Mutagenetix > Incidental Mutation

Incidental Mutation 'R1604:Ptprcap'

176368

Institutional Source

Beutler Lab

Gene Symbol

Ptprcap

Ensembl Gene

ENSMUSG00000045826

Gene Name

protein tyrosine phosphatase receptor type C polypeptide-associated protein

Synonyms

CD-45-AP, LSM-1

MMRRC Submission

039641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R1604 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

4204645-4206709 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4206073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 52 (L52*)

Ref Sequence

ENSEMBL: ENSMUSP00000053412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008893] [ENSMUST00000025749] [ENSMUST00000061086] [ENSMUST00000118483] [ENSMUST00000127605] [ENSMUST00000130469] [ENSMUST00000137431]

AlphaFold

Q64697

Predicted Effect

probably benign
Transcript: ENSMUST00000008893

SMART Domains

Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835

Domain	Start	End	E-Value	Type
DUF1899	5	69	1.48e-37	SMART
WD40	68	111	2.1e-7	SMART
WD40	121	161	1.44e-5	SMART
WD40	164	204	4.08e-5	SMART
DUF1900	258	392	6.41e-88	SMART
coiled coil region	445	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025749

SMART Domains

Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	328	2.56e-103	SMART
S_TK_X	329	391	2.6e-26	SMART
low complexity region	406	421	N/A	INTRINSIC
low complexity region	428	485	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000061086
AA Change: L52*

SMART Domains

Protein: ENSMUSP00000053412
Gene: ENSMUSG00000045826
AA Change: L52*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC
Pfam:PTPRCAP	58	197	8.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118483

SMART Domains

Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	328	2.56e-103	SMART
S_TK_X	329	384	1.69e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127605

SMART Domains

Protein: ENSMUSP00000123376
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	304	1.6e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130469

SMART Domains

Protein: ENSMUSP00000117446
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:Pkinase	67	153	2.7e-14	PFAM
Pfam:Pkinase_Tyr	67	153	9.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140419

Predicted Effect

probably benign
Transcript: ENSMUST00000137431

SMART Domains

Protein: ENSMUSP00000116744
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:Pkinase_Tyr	67	277	4.6e-31	PFAM
Pfam:Pkinase	67	278	2.2e-62	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.1%

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 was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired T and B cell responses to antigen receptor stimulation. Mice for a second knock-out allele show enlarged lymph nodes and increased lymph node cellularity but not significantly altered polyclonal T-cell responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,405 (GRCm39)	D110G	probably damaging	Het
Angptl2	T	C	2: 33,133,785 (GRCm39)	M369T	possibly damaging	Het
Anks3	C	T	16: 4,766,117 (GRCm39)	V151M	probably damaging	Het
Arl6ip6	T	C	2: 53,082,508 (GRCm39)	L125P	probably damaging	Het
Bmp1	T	C	14: 70,745,444 (GRCm39)	Q247R	possibly damaging	Het
Ccdc30	A	G	4: 119,188,793 (GRCm39)	I491T	probably damaging	Het
Cdhr1	T	A	14: 36,817,050 (GRCm39)	I104F	probably benign	Het
Cdk17	G	T	10: 93,068,360 (GRCm39)	M372I	probably damaging	Het
Cyp2c54	A	G	19: 40,058,787 (GRCm39)	V215A	probably benign	Het
D430041D05Rik	T	A	2: 104,035,487 (GRCm39)	I1614F	probably damaging	Het
Ddx55	A	G	5: 124,697,369 (GRCm39)	N244D	probably damaging	Het
Dop1b	G	T	16: 93,559,458 (GRCm39)	V617F	probably benign	Het
Erbb4	G	T	1: 68,385,728 (GRCm39)	A287E	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gad2	T	C	2: 22,513,852 (GRCm39)		probably null	Het
Gm17421	G	A	12: 113,333,155 (GRCm39)		noncoding transcript	Het
Gm9894	T	A	13: 67,913,008 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,700 (GRCm39)	S193P	probably damaging	Het
Gpr20	C	T	15: 73,567,853 (GRCm39)	V179M	probably damaging	Het
Hdgf	T	A	3: 87,821,347 (GRCm39)		probably null	Het
Itgb8	A	T	12: 119,166,265 (GRCm39)	L89M	probably damaging	Het
Lnx2	T	C	5: 146,966,135 (GRCm39)	D328G	probably benign	Het
Lrguk	A	G	6: 34,049,305 (GRCm39)	T341A	possibly damaging	Het
Map1b	A	G	13: 99,566,080 (GRCm39)	S2214P	unknown	Het
Mms22l	T	C	4: 24,502,804 (GRCm39)	F131L	probably damaging	Het
Msmo1	A	G	8: 65,180,689 (GRCm39)	I75T	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or2a56	G	A	6: 42,932,650 (GRCm39)	A73T	possibly damaging	Het
Or51k1	G	T	7: 103,661,162 (GRCm39)	A249E	probably damaging	Het
Or8c13	A	G	9: 38,091,645 (GRCm39)	V158A	probably benign	Het
Or8d2	T	G	9: 38,760,000 (GRCm39)	F197V	probably benign	Het
Pkhd1l1	C	T	15: 44,330,763 (GRCm39)	R113*	probably null	Het
Polr2m	T	C	9: 71,390,959 (GRCm39)	D81G	probably damaging	Het
Ppp1r15b	T	A	1: 133,060,287 (GRCm39)	M268K	probably benign	Het
Rasgrp2	C	T	19: 6,457,087 (GRCm39)	T277I	possibly damaging	Het
Rrbp1	T	C	2: 143,831,310 (GRCm39)	N286D	probably damaging	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Scrib	A	C	15: 75,920,089 (GRCm39)	S1557A	probably damaging	Het
Sergef	C	A	7: 46,092,783 (GRCm39)	V409L	probably benign	Het
Shisal1	T	C	15: 84,290,672 (GRCm39)	M212V	probably benign	Het
Slc6a13	A	G	6: 121,309,328 (GRCm39)	M280V	probably benign	Het
Slc9a8	C	T	2: 167,313,352 (GRCm39)	P409S	probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,612,239 (GRCm39)		probably benign	Het
Spc25	T	C	2: 69,035,498 (GRCm39)	D4G	probably damaging	Het
Specc1	C	T	11: 61,933,883 (GRCm39)	R88C	probably damaging	Het
Srsf11	C	T	3: 157,724,948 (GRCm39)		probably null	Het
Stt3b	T	C	9: 115,079,995 (GRCm39)	E639G	probably damaging	Het
Sult3a1	A	C	10: 33,742,616 (GRCm39)	E81A	probably damaging	Het
Taf1b	G	A	12: 24,606,623 (GRCm39)	G481D	probably benign	Het
Tgm4	T	C	9: 122,874,129 (GRCm39)	V123A	probably benign	Het
Tie1	G	T	4: 118,331,604 (GRCm39)	H973N	probably damaging	Het
Tmem117	C	T	15: 94,992,425 (GRCm39)	R362W	probably damaging	Het
Txnip	A	T	3: 96,466,277 (GRCm39)	Q107L	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vcan	A	G	13: 89,837,780 (GRCm39)	V1628A	probably benign	Het
Vmn2r115	T	A	17: 23,564,245 (GRCm39)	M139K	probably benign	Het
Wwp1	A	G	4: 19,659,709 (GRCm39)	V193A	probably benign	Het
Zcchc8	C	T	5: 123,838,721 (GRCm39)	A606T	probably benign	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp518b	T	C	5: 38,830,949 (GRCm39)	D352G	probably damaging	Het
Zfp784	A	G	7: 5,039,453 (GRCm39)		probably benign	Het
Zfp940	A	T	7: 29,545,500 (GRCm39)	F136I	probably benign	Het

Other mutations in Ptprcap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02365:Ptprcap	APN	19	4,206,267 (GRCm39)	missense	probably benign
R0962:Ptprcap	UTSW	19	4,206,463 (GRCm39)	missense	possibly damaging	0.92
R4480:Ptprcap	UTSW	19	4,206,223 (GRCm39)	missense	probably benign	0.41
R6338:Ptprcap	UTSW	19	4,206,223 (GRCm39)	missense	probably benign	0.41
R6522:Ptprcap	UTSW	19	4,206,183 (GRCm39)	missense	possibly damaging	0.95
R7358:Ptprcap	UTSW	19	4,206,238 (GRCm39)	missense	possibly damaging	0.85
R9169:Ptprcap	UTSW	19	4,206,358 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATCAGGTGACAACTCCTCCCTAC -3'
(R):5'- AGCTGACTCCTATAGTGCAGTGACC -3'

Sequencing Primer
(F):5'- ACTGTCTCCCACAGGCTC -3'
(R):5'- ATGCAGGTCACTCAGCAG -3'

Posted On

2014-04-24