Mutagenetix > Incidental Mutation

Incidental Mutation 'R1730:Ptprc'

199178

Institutional Source

Beutler Lab

Gene Symbol

Ptprc

Ensembl Gene

ENSMUSG00000026395

Gene Name

protein tyrosine phosphatase, receptor type, C

Synonyms

B220, Ly-5, Lyt-4, CD45, T200

MMRRC Submission

039762-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138062861-138175708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138112254 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 212 (K212E)

Ref Sequence

ENSEMBL: ENSMUSP00000142052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182283] [ENSMUST00000182755] [ENSMUST00000183301] [ENSMUST00000195533]

AlphaFold

P06800

Predicted Effect

probably benign
Transcript: ENSMUST00000027645
AA Change: K300E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027645
Gene: ENSMUSG00000026395
AA Change: K300E

Domain	Start	End	E-Value	Type
Pfam:PTP_N	5	30	5e-16	PFAM
low complexity region	109	126	N/A	INTRINSIC
low complexity region	168	203	N/A	INTRINSIC
Pfam:CD45	210	267	3.1e-20	PFAM
FN3	372	456	2.28e0	SMART
FN3	472	550	3.48e-1	SMART
transmembrane domain	565	586	N/A	INTRINSIC
PTPc	639	901	7.57e-127	SMART
PTPc	930	1216	1.39e-102	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112036

SMART Domains

Protein: ENSMUSP00000107667
Gene: ENSMUSG00000026395

Domain	Start	End	E-Value	Type
Pfam:PTP_N	5	30	5.8e-13	PFAM
low complexity region	31	64	N/A	INTRINSIC
Pfam:CD45	70	129	1.8e-24	PFAM
FN3	233	317	2.28e0	SMART
FN3	333	411	3.48e-1	SMART
transmembrane domain	426	447	N/A	INTRINSIC
PTPc	500	762	7.57e-127	SMART
PTPc	791	1077	1.39e-102	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182283
AA Change: K163E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138800
Gene: ENSMUSG00000026395
AA Change: K163E

Domain	Start	End	E-Value	Type
Pfam:PTP_N	7	32	4.2e-13	PFAM
low complexity region	33	66	N/A	INTRINSIC
Pfam:CD45	72	131	2.3e-24	PFAM
FN3	235	319	2.28e0	SMART
FN3	335	413	3.48e-1	SMART
transmembrane domain	428	449	N/A	INTRINSIC
PTPc	502	764	7.57e-127	SMART
PTPc	793	1079	1.39e-102	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182755
AA Change: K139E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138275
Gene: ENSMUSG00000026395
AA Change: K139E

Domain	Start	End	E-Value	Type
Pfam:PTP_N	7	34	5.5e-13	PFAM
Pfam:CD45	48	107	2.3e-24	PFAM
FN3	211	295	2.28e0	SMART
FN3	311	389	3.48e-1	SMART
transmembrane domain	404	425	N/A	INTRINSIC
PTPc	478	740	7.57e-127	SMART
PTPc	769	1055	1.39e-102	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183301
AA Change: K302E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138350
Gene: ENSMUSG00000026395
AA Change: K302E

Domain	Start	End	E-Value	Type
Pfam:PTP_N	7	33	2.7e-13	PFAM
low complexity region	111	128	N/A	INTRINSIC
low complexity region	170	205	N/A	INTRINSIC
Pfam:CD45	211	270	2.1e-24	PFAM
FN3	374	458	2.28e0	SMART
FN3	474	552	3.48e-1	SMART
transmembrane domain	567	588	N/A	INTRINSIC
PTPc	641	903	7.57e-127	SMART
PTPc	932	1218	1.39e-102	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188596

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195533
AA Change: K212E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142052
Gene: ENSMUSG00000026395
AA Change: K212E

Domain	Start	End	E-Value	Type
Pfam:PTP_N	7	33	7.4e-11	PFAM
low complexity region	68	115	N/A	INTRINSIC
Pfam:CD45	121	180	2.1e-22	PFAM

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 201 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,919,278 (GRCm38)	I369T	possibly damaging	Het
Aass	T	C	6: 23,121,019 (GRCm38)	D82G	probably damaging	Het
Abi3bp	G	A	16: 56,668,279 (GRCm38)	V1258I	possibly damaging	Het
Acad11	T	A	9: 104,063,882 (GRCm38)	V41E	probably benign	Het
Aff1	T	G	5: 103,833,512 (GRCm38)	L514V	probably damaging	Het
Ankdd1b	G	T	13: 96,460,903 (GRCm38)	T7K	probably damaging	Het
Aspm	A	G	1: 139,473,574 (GRCm38)	I1111V	probably benign	Het
Bag3	A	T	7: 128,523,859 (GRCm38)	M1L	possibly damaging	Het
C4bp	C	G	1: 130,642,988 (GRCm38)	V284L	probably benign	Het
Cacna1s	T	C	1: 136,118,716 (GRCm38)	F1761S	probably benign	Het
Camsap2	C	T	1: 136,281,315 (GRCm38)	R802Q	probably benign	Het
Carmil1	T	C	13: 24,041,689 (GRCm38)	T635A	probably damaging	Het
Ccdc93	T	C	1: 121,461,939 (GRCm38)	V237A	probably benign	Het
Ccdc93	C	T	1: 121,456,126 (GRCm38)	P192L	probably benign	Het
Cd55	C	A	1: 130,459,633 (GRCm38)	A143S	probably benign	Het
Cd55	C	T	1: 130,449,423 (GRCm38)	V333I	probably benign	Het
Cdh19	C	A	1: 110,893,384 (GRCm38)	E541D	probably damaging	Het
Cdh7	C	G	1: 110,065,735 (GRCm38)	L307V	possibly damaging	Het
Cep63	T	A	9: 102,618,867 (GRCm38)	I114F	possibly damaging	Het
Cfh	C	T	1: 140,147,697 (GRCm38)	V268I	possibly damaging	Het
Cfhr2	A	C	1: 139,813,459 (GRCm38)	N259K	probably benign	Het
Cfhr2	A	G	1: 139,813,442 (GRCm38)	M265T	probably benign	Het
Chil1	C	T	1: 134,188,529 (GRCm38)	A250V	probably damaging	Het
Cnr1	A	G	4: 33,943,851 (GRCm38)	T80A	possibly damaging	Het
Cntnap5a	T	C	1: 116,455,101 (GRCm38)	L1033S	probably benign	Het
Cntnap5a	C	T	1: 116,455,143 (GRCm38)	T1047I	probably benign	Het
Cntnap5a	C	A	1: 116,455,004 (GRCm38)	L1001I	probably benign	Het
Col12a1	A	C	9: 79,628,378 (GRCm38)	V2612G	possibly damaging	Het
Crb1	C	T	1: 139,243,417 (GRCm38)	R684H	probably benign	Het
Crb1	C	T	1: 139,242,995 (GRCm38)	G825R	probably damaging	Het
Crb1	G	A	1: 139,241,138 (GRCm38)	P881S	probably damaging	Het
Crb1	A	T	1: 139,237,622 (GRCm38)	H921Q	probably benign	Het
Crb1	T	C	1: 139,234,779 (GRCm38)	M1214V	probably benign	Het
Cxcr4	C	T	1: 128,589,277 (GRCm38)	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667 (GRCm38)	R147W	probably damaging	Het
Cyp2c29	A	T	19: 39,324,945 (GRCm38)	H295L	possibly damaging	Het
Cyp2c68	A	T	19: 39,699,275 (GRCm38)	M426K	possibly damaging	Het
Ddx59	T	C	1: 136,417,053 (GRCm38)	V154A	probably benign	Het
Dsel	G	C	1: 111,859,994 (GRCm38)	T937S	probably benign	Het
Dsel	T	C	1: 111,859,457 (GRCm38)	N1116S	probably benign	Het
Dsg2	G	A	18: 20,591,880 (GRCm38)	V448I	probably benign	Het
Dstyk	C	T	1: 132,456,984 (GRCm38)	L739F	probably damaging	Het
En1	A	G	1: 120,603,621 (GRCm38)	S197G	unknown	Het
Eogt	T	C	6: 97,113,864 (GRCm38)	D438G	probably damaging	Het
Etnk2	T	A	1: 133,376,915 (GRCm38)	V292E	probably benign	Het
Etnk2	G	A	1: 133,365,817 (GRCm38)	R166Q	probably benign	Het
Etnk2	C	T	1: 133,365,816 (GRCm38)	R166*	probably null	Het
Etnk2	G	T	1: 133,365,765 (GRCm38)	G149W	probably damaging	Het
Etnk2	C	A	1: 133,365,587 (GRCm38)	D89E	probably benign	Het
Etnk2	A	G	1: 133,363,923 (GRCm38)	S54G	probably benign	Het
Etnppl	A	G	3: 130,620,749 (GRCm38)	T98A	probably damaging	Het
Eya2	G	T	2: 165,687,663 (GRCm38)	G109W	probably damaging	Het
Fam131b	T	G	6: 42,318,580 (GRCm38)	Q221P	possibly damaging	Het
Fam72a	C	T	1: 131,538,895 (GRCm38)	T139M	probably benign	Het
Fam72a	T	C	1: 131,530,668 (GRCm38)	I56T	probably benign	Het
Fcamr	T	C	1: 130,812,738 (GRCm38)	V298A	probably benign	Het
Fcamr	A	G	1: 130,812,809 (GRCm38)	M322V	probably benign	Het
Fcamr	C	T	1: 130,812,816 (GRCm38)	P324L	probably benign	Het
Fcamr	A	G	1: 130,811,580 (GRCm38)	I206V	probably benign	Het
Fcamr	G	A	1: 130,812,629 (GRCm38)	G262S	probably benign	Het
Fcamr	A	G	1: 130,812,692 (GRCm38)	I283V	probably benign	Het
Fcamr	A	G	1: 130,814,597 (GRCm38)	N574D	probably benign	Het
Fcmr	T	C	1: 130,878,269 (GRCm38)	S321P	probably benign	Het
Fcmr	A	G	1: 130,875,974 (GRCm38)	T172A	probably benign	Het
Gabarap	C	T	11: 69,991,689 (GRCm38)		probably benign	Het
Gatad2a	G	T	8: 69,909,936 (GRCm38)	H600N	probably damaging	Het
Gba2	A	G	4: 43,578,242 (GRCm38)	C36R	probably benign	Het
Gli2	C	T	1: 118,868,087 (GRCm38)	A113T	possibly damaging	Het
Gli2	G	T	1: 119,002,044 (GRCm38)	H44Q	probably benign	Het
Gm10961	T	C	3: 107,632,994 (GRCm38)		probably benign	Het
Gm4847	T	C	1: 166,638,339 (GRCm38)	D227G	possibly damaging	Het
Gpr37l1	C	A	1: 135,161,530 (GRCm38)	E266*	probably null	Het
Gucy1a2	A	T	9: 3,634,957 (GRCm38)	N334Y	probably benign	Het
H2-D1	A	G	17: 35,263,405 (GRCm38)	T34A	probably damaging	Het
Igfn1	T	C	1: 135,998,683 (GRCm38)	I10V	unknown	Het
Igfn1	T	C	1: 135,998,625 (GRCm38)	E29G	probably benign	Het
Igfn1	G	A	1: 135,982,475 (GRCm38)	R124W	probably benign	Het
Igfn1	C	T	1: 135,979,915 (GRCm38)	A231T	probably benign	Het
Igfn1	C	T	1: 135,972,127 (GRCm38)	R482Q	probably benign	Het
Igfn1	T	C	1: 135,970,411 (GRCm38)	S806G	probably benign	Het
Igfn1	G	A	1: 135,968,199 (GRCm38)	A1543V	probably benign	Het
Igfn1	G	A	1: 135,959,928 (GRCm38)	P2466L	probably damaging	Het
Ikbke	C	A	1: 131,265,937 (GRCm38)	A459S	probably benign	Het
Ikbke	T	C	1: 131,269,823 (GRCm38)	S447G	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268 (GRCm38)		probably benign	Het
Ipo9	A	G	1: 135,402,250 (GRCm38)	V484A	probably benign	Het
Jarid2	T	A	13: 44,906,276 (GRCm38)	N661K	probably damaging	Het
Kcna5	A	T	6: 126,533,860 (GRCm38)	I435N	probably damaging	Het
Kcnj5	T	C	9: 32,322,192 (GRCm38)	I276V	probably damaging	Het
Kcnt2	G	A	1: 140,354,547 (GRCm38)	S90N	probably benign	Het
Kif14	T	C	1: 136,515,961 (GRCm38)	F1291L	probably benign	Het
Kif14	T	C	1: 136,525,783 (GRCm38)	V1433A	probably benign	Het
Kif14	C	T	1: 136,503,431 (GRCm38)	L1189F	probably benign	Het
Kif14	A	G	1: 136,490,332 (GRCm38)	S868G	probably benign	Het
Kif14	G	A	1: 136,478,365 (GRCm38)	A556T	probably benign	Het
Kif14	A	G	1: 136,468,975 (GRCm38)	K340E	probably damaging	Het
Kif14	A	G	1: 136,468,279 (GRCm38)	N108D	probably benign	Het
Klhl20	A	G	1: 161,102,990 (GRCm38)	V314A	possibly damaging	Het
Lad1	C	T	1: 135,827,381 (GRCm38)	P132S	possibly damaging	Het
Lad1	C	T	1: 135,828,023 (GRCm38)	R346C	probably damaging	Het
Lax1	G	A	1: 133,683,634 (GRCm38)	P67S	probably damaging	Het
Lax1	T	C	1: 133,680,569 (GRCm38)	N145D	probably benign	Het
Lax1	T	C	1: 133,679,978 (GRCm38)	R342G	probably benign	Het
Lgr6	C	T	1: 134,987,088 (GRCm38)	V641I	probably benign	Het
Lgr6	A	T	1: 134,988,009 (GRCm38)	S334T	probably benign	Het
Lgr6	G	T	1: 134,990,635 (GRCm38)	H263N	probably benign	Het
Lgr6	C	T	1: 135,003,476 (GRCm38)	S3N	probably benign	Het
Lin7b	A	T	7: 45,369,927 (GRCm38)	H72Q	probably benign	Het
Lmod1	C	T	1: 135,364,073 (GRCm38)	T222I	probably benign	Het
Map3k9	A	T	12: 81,722,226 (GRCm38)	V1016E	probably damaging	Het
Mcam	T	C	9: 44,134,706 (GRCm38)	L6P	probably damaging	Het
Mgam	A	G	6: 40,664,860 (GRCm38)	H549R	possibly damaging	Het
Mrc1	T	C	2: 14,327,844 (GRCm38)	V1285A	probably benign	Het
Mroh3	G	C	1: 136,192,144 (GRCm38)	Q440E	possibly damaging	Het
Mybph	C	T	1: 134,197,480 (GRCm38)	R249C	probably benign	Het
Myh7b	A	G	2: 155,625,672 (GRCm38)	D739G	possibly damaging	Het
Nav1	A	T	1: 135,584,727 (GRCm38)	D198E	possibly damaging	Het
Nfkbib	A	T	7: 28,762,055 (GRCm38)	Y86N	probably damaging	Het
Nfrkb	C	T	9: 31,414,636 (GRCm38)	T1125M	probably benign	Het
Nr5a2	C	A	1: 136,952,125 (GRCm38)	R35L	probably benign	Het
Nrip1	G	T	16: 76,292,890 (GRCm38)	T593K	probably benign	Het
Obscn	A	G	11: 59,073,633 (GRCm38)	Y726H	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Olfml2b	G	A	1: 170,681,789 (GRCm38)	G569S	probably damaging	Het
Olfr1012	T	A	2: 85,760,242 (GRCm38)	I45F	possibly damaging	Het
Olfr1240	C	T	2: 89,439,583 (GRCm38)	R232H	probably benign	Het
Olfr1307	T	C	2: 111,945,288 (GRCm38)	H56R	probably benign	Het
Olfr1417	T	A	19: 11,828,081 (GRCm38)	Q315L	probably benign	Het
Olfr371	A	C	8: 85,230,848 (GRCm38)	M118L	probably benign	Het
Olfr453	C	A	6: 42,744,135 (GRCm38)	L33M	possibly damaging	Het
Olfr924	T	A	9: 38,848,972 (GRCm38)	I286K	probably damaging	Het
Olfr951	T	C	9: 39,394,222 (GRCm38)	Y144H	probably benign	Het
Optc	C	G	1: 133,905,170 (GRCm38)	S64T	probably benign	Het
Optc	A	T	1: 133,903,796 (GRCm38)		probably null	Het
Pard6g	T	A	18: 80,079,825 (GRCm38)	F25I	probably damaging	Het
Parp6	C	A	9: 59,633,538 (GRCm38)	C291*	probably null	Het
Pigr	C	T	1: 130,844,522 (GRCm38)	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 133,066,627 (GRCm38)	P110S	probably benign	Het
Plekha6	C	G	1: 133,287,846 (GRCm38)	T792S	probably benign	Het
Polr2i	T	C	7: 30,233,068 (GRCm38)	C67R	probably damaging	Het
Ppfia4	G	A	1: 134,299,321 (GRCm38)	P1159S	probably benign	Het
Prelp	C	T	1: 133,915,131 (GRCm38)	R92K	probably benign	Het
Ptgfrn	T	C	3: 101,056,442 (GRCm38)	N618S	possibly damaging	Het
Ptpn7	A	G	1: 135,134,475 (GRCm38)	Q53R	probably benign	Het
Rab29	A	G	1: 131,872,110 (GRCm38)	Q141R	probably benign	Het
Rad17	C	T	13: 100,622,806 (GRCm38)	R571Q	probably damaging	Het
Ren1	T	A	1: 133,354,206 (GRCm38)	W22R	probably damaging	Het
Ren1	C	T	1: 133,354,237 (GRCm38)	T32I	probably benign	Het
Ren1	A	C	1: 133,356,457 (GRCm38)	K187Q	probably benign	Het
Ren1	C	G	1: 133,360,007 (GRCm38)	L360V	probably benign	Het
Ren1	A	T	1: 133,359,983 (GRCm38)	N352Y	probably benign	Het
Ren1	A	T	1: 133,359,079 (GRCm38)	E315D	probably benign	Het
Rims1	C	T	1: 22,346,529 (GRCm38)		probably null	Het
Rnpep	C	T	1: 135,263,096 (GRCm38)	A571T	possibly damaging	Het
Sctr	T	C	1: 120,031,656 (GRCm38)	F110L	probably benign	Het
Sctr	G	A	1: 120,063,257 (GRCm38)	S440N	possibly damaging	Het
Sele	T	G	1: 164,054,623 (GRCm38)	V559G	probably benign	Het
Sept4	A	T	11: 87,583,436 (GRCm38)	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,538,473 (GRCm38)	S63F	probably damaging	Het
Serpinb2	A	C	1: 107,524,543 (GRCm38)	S284R	probably benign	Het
Serpinb2	C	T	1: 107,523,894 (GRCm38)	T259I	probably benign	Het
Serpinb2	G	A	1: 107,515,635 (GRCm38)	A55T	probably damaging	Het
Serpinb2	C	A	1: 107,523,834 (GRCm38)	A239E	probably benign	Het
Serpinb2	C	T	1: 107,523,890 (GRCm38)	H258Y	probably benign	Het
Serpinb8	G	A	1: 107,598,954 (GRCm38)	A75T	probably benign	Het
Serpinb8	A	C	1: 107,607,004 (GRCm38)	L268F	probably benign	Het
Serpinb8	A	G	1: 107,597,527 (GRCm38)	S20G	probably benign	Het
Setd1a	T	A	7: 127,785,124 (GRCm38)	Y382*	probably null	Het
Sipa1l2	A	T	8: 125,480,141 (GRCm38)		probably null	Het
Slc25a41	T	C	17: 57,039,921 (GRCm38)	E10G	probably benign	Het
Slc26a9	C	T	1: 131,763,870 (GRCm38)	A617V	probably benign	Het
Slc36a1	A	G	11: 55,223,672 (GRCm38)	D192G	probably damaging	Het
Steap3	T	C	1: 120,227,750 (GRCm38)	N493S	probably benign	Het
Steap3	G	A	1: 120,234,378 (GRCm38)	A350V	probably benign	Het
Susd4	A	G	1: 182,853,978 (GRCm38)	E128G	probably damaging	Het
Synpo2l	G	A	14: 20,665,819 (GRCm38)	P233S	probably damaging	Het
Tbc1d17	A	C	7: 44,845,131 (GRCm38)	S227A	probably damaging	Het
Tfg	G	T	16: 56,712,789 (GRCm38)	N2K	probably damaging	Het
Thsd7b	C	T	1: 129,628,891 (GRCm38)	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,667,937 (GRCm38)	F498Y	probably benign	Het
Thsd7b	G	C	1: 129,678,183 (GRCm38)	A554P	probably benign	Het
Thsd7b	A	C	1: 130,116,631 (GRCm38)	Q1116P	probably benign	Het
Tmem143	G	A	7: 45,907,002 (GRCm38)	D144N	possibly damaging	Het
Tnnt2	C	T	1: 135,845,506 (GRCm38)		probably benign	Het
Trim47	A	G	11: 116,106,038 (GRCm38)	L630P	probably damaging	Het
Trove2	T	C	1: 143,760,034 (GRCm38)	D458G	probably benign	Het
Trove2	C	T	1: 143,760,014 (GRCm38)	V465I	probably benign	Het
Ttk	A	G	9: 83,868,592 (GRCm38)	N691S	possibly damaging	Het
Ttn	C	T	2: 76,813,339 (GRCm38)	G11436R	probably damaging	Het
Ttn	T	G	2: 76,716,992 (GRCm38)	T32237P	probably damaging	Het
Ube2t	C	T	1: 134,972,167 (GRCm38)	A149V	probably benign	Het
Uggt1	T	C	1: 36,221,261 (GRCm38)	T158A	probably benign	Het
Usp9y	A	T	Y: 1,367,093 (GRCm38)	V998D	probably benign	Het
Vwa5b2	C	T	16: 20,600,925 (GRCm38)	P644S	probably damaging	Het
Wars	A	C	12: 108,875,741 (GRCm38)	F160C	probably damaging	Het
Zc3h11a	G	A	1: 133,622,154 (GRCm38)	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,624,621 (GRCm38)	V583I	probably benign	Het
Zfp541	A	G	7: 16,077,973 (GRCm38)	T184A	probably damaging	Het
Zfp804b	T	C	5: 6,771,938 (GRCm38)	D375G	probably damaging	Het
Zp3r	A	G	1: 130,596,814 (GRCm38)	L164P	probably benign	Het
Zp3r	C	A	1: 130,619,414 (GRCm38)	E8D	possibly damaging	Het

Other mutations in Ptprc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
lochy	APN	1	138,083,790 (GRCm38)	splice site	probably benign
IGL00486:Ptprc	APN	1	138,115,621 (GRCm38)	missense	probably damaging	0.97
IGL00771:Ptprc	APN	1	138,113,677 (GRCm38)	missense	probably benign	0.00
IGL00833:Ptprc	APN	1	138,078,492 (GRCm38)	missense	possibly damaging	0.55
IGL00919:Ptprc	APN	1	138,113,642 (GRCm38)	missense	probably damaging	1.00
IGL01020:Ptprc	APN	1	138,120,173 (GRCm38)	critical splice acceptor site	probably null	0.00
IGL01024:Ptprc	APN	1	138,080,912 (GRCm38)	missense	probably damaging	1.00
IGL01302:Ptprc	APN	1	138,099,631 (GRCm38)	missense	possibly damaging	0.82
IGL01548:Ptprc	APN	1	138,099,481 (GRCm38)	critical splice donor site	probably null	0.00
IGL01620:Ptprc	APN	1	138,068,410 (GRCm38)	missense	possibly damaging	0.88
IGL01775:Ptprc	APN	1	138,064,759 (GRCm38)	missense	probably damaging	1.00
IGL01820:Ptprc	APN	1	138,066,198 (GRCm38)	missense	probably damaging	1.00
IGL02340:Ptprc	APN	1	138,071,219 (GRCm38)	missense	probably damaging	1.00
IGL02943:Ptprc	APN	1	138,099,513 (GRCm38)	missense	probably damaging	0.99
IGL03169:Ptprc	APN	1	138,113,619 (GRCm38)	missense	probably benign	0.15
IGL03308:Ptprc	APN	1	138,126,320 (GRCm38)	missense	possibly damaging	0.70
IGL03404:Ptprc	APN	1	138,093,001 (GRCm38)	missense	probably damaging	1.00
belittle	UTSW	1	138,137,493 (GRCm38)	intron	probably benign
Benighted	UTSW	1	138,126,301 (GRCm38)	critical splice donor site	probably null
bletchley	UTSW	1	138,117,862 (GRCm38)	missense	probably benign
Blush	UTSW	1	138,117,720 (GRCm38)	intron	probably benign
bruise	UTSW	1	138,064,771 (GRCm38)	missense	probably damaging	1.00
chor_muang	UTSW	1	138,113,562 (GRCm38)	critical splice donor site	probably null
crystal	UTSW	1	138,072,255 (GRCm38)	critical splice donor site	probably null
Dumpling	UTSW	1	138,067,890 (GRCm38)	missense	probably damaging	1.00
fluorescent	UTSW	1	138,101,192 (GRCm38)	missense	probably damaging	0.97
fuchsia	UTSW	1	138,101,041 (GRCm38)	critical splice donor site	probably null
Gentian	UTSW	1	138,067,885 (GRCm38)	critical splice donor site	probably null
guotie	UTSW	1	138,068,401 (GRCm38)	nonsense	probably null
guotie2	UTSW	1	138,094,299 (GRCm38)	missense	probably damaging	0.97
Guotie3	UTSW	1	138,078,451 (GRCm38)	missense	possibly damaging	0.92
Gyoza	UTSW	1	138,083,567 (GRCm38)	missense	probably damaging	1.00
Half_measure	UTSW	1	138,071,249 (GRCm38)	missense	probably damaging	0.98
jirisan	UTSW	1	138,113,678 (GRCm38)	nonsense	probably null
mauve	UTSW	1	138,099,685 (GRCm38)	missense	probably benign
Perverse	UTSW	1	138,101,044 (GRCm38)	missense	probably benign	0.02
petechiae	UTSW	1	138,113,708 (GRCm38)	nonsense	probably null
ultra	UTSW	1	138,078,445 (GRCm38)	critical splice donor site	probably null
violaceous	UTSW	1	138,083,639 (GRCm38)	missense	possibly damaging	0.77
R0013:Ptprc	UTSW	1	138,113,559 (GRCm38)	splice site	probably null
R0189:Ptprc	UTSW	1	138,082,715 (GRCm38)	missense	probably benign	0.10
R0390:Ptprc	UTSW	1	138,122,575 (GRCm38)	missense	possibly damaging	0.71
R0504:Ptprc	UTSW	1	138,088,697 (GRCm38)	missense	probably damaging	1.00
R0602:Ptprc	UTSW	1	138,089,485 (GRCm38)	splice site	probably benign
R0627:Ptprc	UTSW	1	138,068,320 (GRCm38)	missense	probably damaging	0.99
R0632:Ptprc	UTSW	1	138,073,610 (GRCm38)	missense	probably benign	0.01
R0751:Ptprc	UTSW	1	138,092,930 (GRCm38)	missense	probably damaging	1.00
R0839:Ptprc	UTSW	1	138,101,132 (GRCm38)	missense	possibly damaging	0.47
R0942:Ptprc	UTSW	1	138,068,401 (GRCm38)	nonsense	probably null
R0943:Ptprc	UTSW	1	138,111,164 (GRCm38)	missense	probably damaging	0.96
R1159:Ptprc	UTSW	1	138,072,319 (GRCm38)	missense	probably damaging	1.00
R1442:Ptprc	UTSW	1	138,072,312 (GRCm38)	missense	probably damaging	1.00
R1489:Ptprc	UTSW	1	138,120,086 (GRCm38)	missense	possibly damaging	0.91
R1728:Ptprc	UTSW	1	138,107,824 (GRCm38)	missense	probably benign	0.04
R1728:Ptprc	UTSW	1	138,107,823 (GRCm38)	missense	probably benign	0.22
R1728:Ptprc	UTSW	1	138,099,676 (GRCm38)	missense	probably benign	0.05
R1728:Ptprc	UTSW	1	138,112,254 (GRCm38)	missense	possibly damaging	0.53
R1728:Ptprc	UTSW	1	138,107,837 (GRCm38)	missense	probably benign	0.09
R1729:Ptprc	UTSW	1	138,107,823 (GRCm38)	missense	probably benign	0.22
R1729:Ptprc	UTSW	1	138,099,676 (GRCm38)	missense	probably benign	0.05
R1729:Ptprc	UTSW	1	138,112,254 (GRCm38)	missense	possibly damaging	0.53
R1729:Ptprc	UTSW	1	138,107,837 (GRCm38)	missense	probably benign	0.09
R1729:Ptprc	UTSW	1	138,107,824 (GRCm38)	missense	probably benign	0.04
R1730:Ptprc	UTSW	1	138,107,837 (GRCm38)	missense	probably benign	0.09
R1730:Ptprc	UTSW	1	138,099,676 (GRCm38)	missense	probably benign	0.05
R1730:Ptprc	UTSW	1	138,107,823 (GRCm38)	missense	probably benign	0.22
R1730:Ptprc	UTSW	1	138,107,824 (GRCm38)	missense	probably benign	0.04
R1739:Ptprc	UTSW	1	138,107,837 (GRCm38)	missense	probably benign	0.09
R1739:Ptprc	UTSW	1	138,112,254 (GRCm38)	missense	possibly damaging	0.53
R1739:Ptprc	UTSW	1	138,099,676 (GRCm38)	missense	probably benign	0.05
R1739:Ptprc	UTSW	1	138,107,823 (GRCm38)	missense	probably benign	0.22
R1739:Ptprc	UTSW	1	138,107,824 (GRCm38)	missense	probably benign	0.04
R1762:Ptprc	UTSW	1	138,107,837 (GRCm38)	missense	probably benign	0.09
R1762:Ptprc	UTSW	1	138,112,254 (GRCm38)	missense	possibly damaging	0.53
R1762:Ptprc	UTSW	1	138,099,676 (GRCm38)	missense	probably benign	0.05
R1762:Ptprc	UTSW	1	138,107,823 (GRCm38)	missense	probably benign	0.22
R1762:Ptprc	UTSW	1	138,107,824 (GRCm38)	missense	probably benign	0.04
R1783:Ptprc	UTSW	1	138,099,676 (GRCm38)	missense	probably benign	0.05
R1783:Ptprc	UTSW	1	138,107,823 (GRCm38)	missense	probably benign	0.22
R1783:Ptprc	UTSW	1	138,107,824 (GRCm38)	missense	probably benign	0.04
R1783:Ptprc	UTSW	1	138,107,837 (GRCm38)	missense	probably benign	0.09
R1783:Ptprc	UTSW	1	138,112,254 (GRCm38)	missense	possibly damaging	0.53
R1784:Ptprc	UTSW	1	138,107,837 (GRCm38)	missense	probably benign	0.09
R1784:Ptprc	UTSW	1	138,112,254 (GRCm38)	missense	possibly damaging	0.53
R1784:Ptprc	UTSW	1	138,099,676 (GRCm38)	missense	probably benign	0.05
R1784:Ptprc	UTSW	1	138,107,823 (GRCm38)	missense	probably benign	0.22
R1784:Ptprc	UTSW	1	138,107,824 (GRCm38)	missense	probably benign	0.04
R1785:Ptprc	UTSW	1	138,099,676 (GRCm38)	missense	probably benign	0.05
R1785:Ptprc	UTSW	1	138,107,823 (GRCm38)	missense	probably benign	0.22
R1785:Ptprc	UTSW	1	138,112,254 (GRCm38)	missense	possibly damaging	0.53
R1785:Ptprc	UTSW	1	138,107,837 (GRCm38)	missense	probably benign	0.09
R1785:Ptprc	UTSW	1	138,107,824 (GRCm38)	missense	probably benign	0.04
R1862:Ptprc	UTSW	1	138,112,227 (GRCm38)	missense	probably benign	0.13
R2145:Ptprc	UTSW	1	138,073,681 (GRCm38)	missense	probably damaging	1.00
R2290:Ptprc	UTSW	1	138,111,188 (GRCm38)	missense	probably benign	0.00
R2403:Ptprc	UTSW	1	138,088,532 (GRCm38)	missense	probably damaging	1.00
R2439:Ptprc	UTSW	1	138,066,152 (GRCm38)	missense	possibly damaging	0.67
R2887:Ptprc	UTSW	1	138,080,178 (GRCm38)	missense	probably damaging	1.00
R2906:Ptprc	UTSW	1	138,064,534 (GRCm38)	missense	possibly damaging	0.93
R3774:Ptprc	UTSW	1	138,064,773 (GRCm38)	missense	probably damaging	0.97
R3775:Ptprc	UTSW	1	138,064,773 (GRCm38)	missense	probably damaging	0.97
R3776:Ptprc	UTSW	1	138,064,773 (GRCm38)	missense	probably damaging	0.97
R3834:Ptprc	UTSW	1	138,083,567 (GRCm38)	missense	probably damaging	1.00
R4019:Ptprc	UTSW	1	138,078,516 (GRCm38)	missense	probably damaging	1.00
R4377:Ptprc	UTSW	1	138,067,925 (GRCm38)	missense	probably benign	0.04
R4580:Ptprc	UTSW	1	138,071,251 (GRCm38)	missense	probably benign	0.09
R4923:Ptprc	UTSW	1	138,078,498 (GRCm38)	missense	possibly damaging	0.93
R4925:Ptprc	UTSW	1	138,099,497 (GRCm38)	missense	probably benign	0.04
R4937:Ptprc	UTSW	1	138,089,500 (GRCm38)	missense	probably damaging	1.00
R4970:Ptprc	UTSW	1	138,094,299 (GRCm38)	missense	probably damaging	0.97
R5112:Ptprc	UTSW	1	138,094,299 (GRCm38)	missense	probably damaging	0.97
R5145:Ptprc	UTSW	1	138,089,566 (GRCm38)	missense	probably benign	0.07
R5158:Ptprc	UTSW	1	138,175,084 (GRCm38)	missense	possibly damaging	0.75
R5223:Ptprc	UTSW	1	138,117,862 (GRCm38)	missense	probably benign
R5593:Ptprc	UTSW	1	138,117,720 (GRCm38)	intron	probably benign
R5689:Ptprc	UTSW	1	138,117,777 (GRCm38)	missense	probably benign	0.01
R5885:Ptprc	UTSW	1	138,088,508 (GRCm38)	missense	probably damaging	1.00
R6010:Ptprc	UTSW	1	138,101,056 (GRCm38)	missense	probably benign	0.09
R6026:Ptprc	UTSW	1	138,071,249 (GRCm38)	missense	probably damaging	0.98
R6047:Ptprc	UTSW	1	138,101,041 (GRCm38)	critical splice donor site	probably null
R6173:Ptprc	UTSW	1	138,067,890 (GRCm38)	missense	probably damaging	1.00
R6328:Ptprc	UTSW	1	138,113,678 (GRCm38)	nonsense	probably null
R6383:Ptprc	UTSW	1	138,078,451 (GRCm38)	missense	possibly damaging	0.92
R6436:Ptprc	UTSW	1	138,083,639 (GRCm38)	missense	possibly damaging	0.77
R6492:Ptprc	UTSW	1	138,113,562 (GRCm38)	critical splice donor site	probably null
R6520:Ptprc	UTSW	1	138,080,143 (GRCm38)	nonsense	probably null
R6805:Ptprc	UTSW	1	138,067,885 (GRCm38)	critical splice donor site	probably null
R6830:Ptprc	UTSW	1	138,072,255 (GRCm38)	critical splice donor site	probably null
R6847:Ptprc	UTSW	1	138,088,545 (GRCm38)	missense	probably damaging	0.99
R6960:Ptprc	UTSW	1	138,078,445 (GRCm38)	critical splice donor site	probably null
R6995:Ptprc	UTSW	1	138,088,744 (GRCm38)	missense	probably damaging	1.00
R7009:Ptprc	UTSW	1	138,064,553 (GRCm38)	missense	probably damaging	0.97
R7041:Ptprc	UTSW	1	138,126,309 (GRCm38)	missense	probably benign	0.04
R7055:Ptprc	UTSW	1	138,089,571 (GRCm38)	missense	probably damaging	1.00
R7098:Ptprc	UTSW	1	138,099,685 (GRCm38)	missense	probably benign
R7164:Ptprc	UTSW	1	138,117,862 (GRCm38)	missense	probably benign
R7188:Ptprc	UTSW	1	138,071,180 (GRCm38)	missense	probably damaging	1.00
R7191:Ptprc	UTSW	1	138,101,044 (GRCm38)	missense	probably benign	0.02
R7204:Ptprc	UTSW	1	138,117,862 (GRCm38)	missense	probably benign
R7316:Ptprc	UTSW	1	138,064,771 (GRCm38)	missense	probably damaging	1.00
R7644:Ptprc	UTSW	1	138,067,907 (GRCm38)	missense	probably benign	0.01
R7948:Ptprc	UTSW	1	138,064,576 (GRCm38)	missense	probably benign	0.45
R8029:Ptprc	UTSW	1	138,078,459 (GRCm38)	missense	probably damaging	1.00
R8677:Ptprc	UTSW	1	138,083,597 (GRCm38)	missense	probably damaging	1.00
R8704:Ptprc	UTSW	1	138,115,624 (GRCm38)	missense	probably benign	0.34
R8824:Ptprc	UTSW	1	138,113,708 (GRCm38)	nonsense	probably null
R8921:Ptprc	UTSW	1	138,126,301 (GRCm38)	critical splice donor site	probably null
R8998:Ptprc	UTSW	1	138,101,192 (GRCm38)	missense	probably damaging	0.97
R8999:Ptprc	UTSW	1	138,101,192 (GRCm38)	missense	probably damaging	0.97
R9154:Ptprc	UTSW	1	138,088,564 (GRCm38)	missense	probably damaging	1.00
R9388:Ptprc	UTSW	1	138,083,642 (GRCm38)	missense	possibly damaging	0.87
R9428:Ptprc	UTSW	1	138,113,747 (GRCm38)	missense	probably benign	0.01
R9467:Ptprc	UTSW	1	138,066,222 (GRCm38)	missense	probably damaging	1.00
R9468:Ptprc	UTSW	1	138,117,016 (GRCm38)	missense	probably benign	0.01
R9479:Ptprc	UTSW	1	138,073,650 (GRCm38)	missense	probably benign	0.38
R9526:Ptprc	UTSW	1	138,068,373 (GRCm38)	missense	probably benign	0.02
R9632:Ptprc	UTSW	1	138,080,889 (GRCm38)	missense	probably damaging	1.00
R9710:Ptprc	UTSW	1	138,080,889 (GRCm38)	missense	probably damaging	1.00
R9714:Ptprc	UTSW	1	138,080,949 (GRCm38)	missense	probably damaging	1.00
R9777:Ptprc	UTSW	1	138,120,163 (GRCm38)	missense
Z1177:Ptprc	UTSW	1	138,067,907 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAAAGTCTGAGAAAGCAACCTCCG -3'
(R):5'- AGATGTCCCCTAGCGAAATCTCCTG -3'

Sequencing Primer
(F):5'- AACCTCCGGTGTGGATAATAC -3'
(R):5'- TAAGAGCACCTCTCCGTTTC -3'

Posted On

2014-05-23