Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Ptpn6'

34554

Institutional Source

Beutler Lab

Gene Symbol

Ptpn6

Ensembl Gene

ENSMUSG00000004266

Gene Name

protein tyrosine phosphatase, non-receptor type 6

Synonyms

Hcph, SHP-1, hcp, Ptp1C

MMRRC Submission

038485-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

R0254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124697670-124715672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124705113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 230 (E230G)

Ref Sequence

ENSEMBL: ENSMUSP00000133991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004377] [ENSMUST00000112484] [ENSMUST00000171549] [ENSMUST00000174265] [ENSMUST00000173647] [ENSMUST00000174787]

AlphaFold

P29351

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004377
AA Change: E271G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266
AA Change: E271G

Domain	Start	End	E-Value	Type
SH2	4	87	1.43e-28	SMART
SH2	110	202	1.45e-29	SMART
PTPc	245	519	7.51e-131	SMART
low complexity region	571	581	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112484
AA Change: E269G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266
AA Change: E269G

Domain	Start	End	E-Value	Type
SH2	2	85	4.05e-28	SMART
SH2	108	200	1.45e-29	SMART
PTPc	243	517	7.51e-131	SMART
low complexity region	569	579	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171549
AA Change: E271G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266
AA Change: E271G

Domain	Start	End	E-Value	Type
SH2	4	87	1.43e-28	SMART
SH2	110	202	1.45e-29	SMART
PTPc	245	519	7.51e-131	SMART
low complexity region	571	581	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172613

Predicted Effect

probably benign
Transcript: ENSMUST00000172690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173228

Predicted Effect

probably damaging
Transcript: ENSMUST00000174265
AA Change: E230G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266
AA Change: E230G

Domain	Start	End	E-Value	Type
Pfam:SH2	1	40	3.5e-6	PFAM
SH2	69	161	1.45e-29	SMART
PTPc	204	478	7.51e-131	SMART
low complexity region	530	540	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174861

Predicted Effect

probably benign
Transcript: ENSMUST00000173647

SMART Domains

Protein: ENSMUSP00000133747
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
SH2	2	64	2.35e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174787

Meta Mutation Damage Score

0.3498

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

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, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are immunodeficient and autoimmune and exhibit neutrophilic skin lesions that disrupt hair follicles and give the motheaten appearance. Alleles vary in severity, with death occurring at 6-9 weeks postnatally due to severe pneumonitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,902 (GRCm39)	M252L	probably benign	Het
Abca6	A	G	11: 110,127,615 (GRCm39)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,877,409 (GRCm39)	E656D	probably benign	Het
Abhd4	T	C	14: 54,500,691 (GRCm39)	I160T	probably benign	Het
Aco2	T	C	15: 81,773,557 (GRCm39)	V32A	probably damaging	Het
Actl6b	A	G	5: 137,552,406 (GRCm39)		probably benign	Het
Akap13	T	C	7: 75,386,352 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,726,722 (GRCm39)	T136S	probably benign	Het
Ap1g1	G	T	8: 110,529,749 (GRCm39)	M56I	probably benign	Het
Arid2	C	T	15: 96,268,452 (GRCm39)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,866,259 (GRCm39)	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,680,937 (GRCm39)		probably benign	Het
Blk	C	A	14: 63,618,253 (GRCm39)	A218S	probably benign	Het
C4b	T	A	17: 34,953,750 (GRCm39)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,813,356 (GRCm39)		probably benign	Het
Cdca2	C	A	14: 67,914,627 (GRCm39)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,477,733 (GRCm39)	V83L	probably damaging	Het
Cep290	A	T	10: 100,350,436 (GRCm39)	I677F	probably benign	Het
Clip1	A	T	5: 123,755,395 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,283,777 (GRCm39)		probably benign	Het
Coro1c	A	T	5: 113,983,313 (GRCm39)	V405D	probably benign	Het
Crebrf	A	G	17: 26,958,568 (GRCm39)	T13A	probably benign	Het
Cspg4	A	G	9: 56,804,694 (GRCm39)	E1835G	probably damaging	Het
Cubn	A	T	2: 13,480,846 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,429,505 (GRCm39)	N1332S	probably benign	Het
Cubn	T	C	2: 13,445,325 (GRCm39)	T1014A	possibly damaging	Het
Efnb1	T	C	X: 98,180,634 (GRCm39)		probably benign	Het
Elf2	G	T	3: 51,215,611 (GRCm39)	P33Q	probably damaging	Het
Fap	C	T	2: 62,333,746 (GRCm39)	G633D	probably damaging	Het
Gm10288	T	C	3: 146,544,675 (GRCm39)		noncoding transcript	Het
Got2	T	C	8: 96,596,166 (GRCm39)	N318S	probably benign	Het
Guk1	A	T	11: 59,076,854 (GRCm39)	F76L	probably damaging	Het
H2-K2	A	T	17: 34,215,639 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,209,536 (GRCm39)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,871,242 (GRCm39)		probably null	Het
Hsd11b2	T	A	8: 106,249,699 (GRCm39)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,635,201 (GRCm39)	M81K	probably damaging	Het
Kif11	A	G	19: 37,399,957 (GRCm39)	T815A	probably benign	Het
Kit	G	A	5: 75,781,581 (GRCm39)	V337I	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Klk13	T	C	7: 43,373,245 (GRCm39)	V193A	probably benign	Het
Krt73	T	A	15: 101,708,324 (GRCm39)		probably benign	Het
L1td1	T	A	4: 98,625,419 (GRCm39)	L538*	probably null	Het
Macf1	A	G	4: 123,326,572 (GRCm39)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,860,998 (GRCm39)	I900T	probably damaging	Het
Med16	A	T	10: 79,736,034 (GRCm39)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,783,698 (GRCm39)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,238,692 (GRCm39)	P1249R	probably benign	Het
Mx2	A	T	16: 97,357,295 (GRCm39)	I463L	probably benign	Het
Naaa	A	T	5: 92,412,994 (GRCm39)	N73K	probably damaging	Het
Nags	T	A	11: 102,038,771 (GRCm39)	L404Q	probably damaging	Het
Neb	A	G	2: 52,133,402 (GRCm39)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,348,733 (GRCm39)	E120G	probably damaging	Het
Or11j4	T	C	14: 50,630,536 (GRCm39)	S108P	probably damaging	Het
Or4f53	A	C	2: 111,087,466 (GRCm39)	N2T	probably benign	Het
Or51a42	T	C	7: 103,708,728 (GRCm39)	H27R	probably benign	Het
Or51ah3	T	A	7: 103,209,829 (GRCm39)	Y48*	probably null	Het
Or51f5	C	A	7: 102,424,076 (GRCm39)	S115*	probably null	Het
Pcnt	A	G	10: 76,228,414 (GRCm39)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,328,596 (GRCm39)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,634,497 (GRCm39)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,251,962 (GRCm39)		probably benign	Het
Prmt8	C	A	6: 127,688,771 (GRCm39)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,397,188 (GRCm39)	I2007N	possibly damaging	Het
R3hcc1l	G	A	19: 42,551,587 (GRCm39)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,333,071 (GRCm39)	T1330I	probably damaging	Het
Reep3	G	T	10: 66,857,575 (GRCm39)	T172N	probably benign	Het
Rfwd3	A	G	8: 112,020,655 (GRCm39)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,698 (GRCm39)	I121V	probably damaging	Het
Robo1	T	A	16: 72,461,058 (GRCm39)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,878,910 (GRCm39)		probably benign	Het
Rubcn	A	G	16: 32,668,316 (GRCm39)	V117A	probably benign	Het
Scamp1	T	G	13: 94,347,088 (GRCm39)	N192T	probably benign	Het
Scn8a	T	A	15: 100,916,245 (GRCm39)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,399,304 (GRCm39)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,518,574 (GRCm39)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,839,165 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,906,462 (GRCm39)	M386V	possibly damaging	Het
Smarca5	A	G	8: 81,431,329 (GRCm39)	F963L	probably benign	Het
Smchd1	A	T	17: 71,718,886 (GRCm39)	F828I	probably benign	Het
Smr2l	A	T	5: 88,430,230 (GRCm39)	H42L	possibly damaging	Het
Stab2	G	T	10: 86,733,824 (GRCm39)	Q1333K	probably benign	Het
Svop	T	C	5: 114,176,600 (GRCm39)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,830,998 (GRCm39)	S271N	probably benign	Het
Tec	G	A	5: 72,941,081 (GRCm39)	P159S	probably benign	Het
Tec	T	C	5: 72,920,899 (GRCm39)		probably benign	Het
Tfip11	G	A	5: 112,483,521 (GRCm39)	M645I	probably benign	Het
Thap12	A	T	7: 98,364,488 (GRCm39)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,205,988 (GRCm39)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,562,719 (GRCm39)	Y227H	probably damaging	Het
Urah	G	A	7: 140,417,602 (GRCm39)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,244,811 (GRCm39)	E353K	probably damaging	Het
Zfp1004	G	A	2: 150,033,784 (GRCm39)	R35K	possibly damaging	Het
Zfp101	A	T	17: 33,599,952 (GRCm39)	H601Q	possibly damaging	Het

Other mutations in Ptpn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Ptpn6	APN	6	124,709,319 (GRCm39)	splice site	probably null
IGL01490:Ptpn6	APN	6	124,705,307 (GRCm39)	missense	probably damaging	1.00
IGL01865:Ptpn6	APN	6	124,709,428 (GRCm39)	missense	probably damaging	1.00
IGL02017:Ptpn6	APN	6	124,709,449 (GRCm39)	missense	probably damaging	0.98
IGL02272:Ptpn6	APN	6	124,698,171 (GRCm39)	missense	probably damaging	0.99
IGL02276:Ptpn6	APN	6	124,705,828 (GRCm39)	missense	probably null	1.00
IGL02556:Ptpn6	APN	6	124,705,623 (GRCm39)	missense	probably benign	0.00
candle	UTSW	6	124,705,382 (GRCm39)	missense	probably damaging	1.00
caterpillar	UTSW	6	124,701,947 (GRCm39)	missense	probably benign
farfalla_notturna	UTSW	6	124,709,398 (GRCm39)	missense	probably damaging	1.00
Flutterby	UTSW	6	124,698,821 (GRCm39)	missense	possibly damaging	0.89
Hawk	UTSW	6	124,705,748 (GRCm39)	missense	probably damaging	1.00
Lepidopteran	UTSW	6	124,705,135 (GRCm39)	missense	probably damaging	1.00
Malachite	UTSW	6	124,705,614 (GRCm39)	missense	possibly damaging	0.84
Moth	UTSW	6	124,705,135 (GRCm39)	missense	possibly damaging	0.89
Naphthalene	UTSW	6	124,698,752 (GRCm39)	missense	probably benign	0.42
spin	UTSW	6	124,705,522 (GRCm39)	missense	probably damaging	1.00
spin2	UTSW	6	124,709,332 (GRCm39)	missense	probably damaging	1.00
Vermeil	UTSW	6	124,709,913 (GRCm39)	missense	probably benign	0.10
R0183:Ptpn6	UTSW	6	124,705,914 (GRCm39)	missense	probably damaging	1.00
R0636:Ptpn6	UTSW	6	124,702,242 (GRCm39)	missense	probably benign
R0835:Ptpn6	UTSW	6	124,704,499 (GRCm39)	critical splice acceptor site	probably null
R1383:Ptpn6	UTSW	6	124,698,856 (GRCm39)	missense	probably damaging	1.00
R1638:Ptpn6	UTSW	6	124,698,148 (GRCm39)	missense	probably benign
R1900:Ptpn6	UTSW	6	124,705,896 (GRCm39)	missense	probably benign	0.15
R2047:Ptpn6	UTSW	6	124,698,752 (GRCm39)	missense	probably benign	0.42
R2143:Ptpn6	UTSW	6	124,701,947 (GRCm39)	missense	probably benign	0.01
R3907:Ptpn6	UTSW	6	124,702,239 (GRCm39)	missense	possibly damaging	0.86
R4082:Ptpn6	UTSW	6	124,705,382 (GRCm39)	missense	probably damaging	1.00
R4382:Ptpn6	UTSW	6	124,704,361 (GRCm39)	missense	possibly damaging	0.86
R5319:Ptpn6	UTSW	6	124,709,913 (GRCm39)	missense	probably benign	0.10
R5807:Ptpn6	UTSW	6	124,701,947 (GRCm39)	missense	probably benign
R5878:Ptpn6	UTSW	6	124,705,748 (GRCm39)	missense	probably damaging	1.00
R6056:Ptpn6	UTSW	6	124,709,398 (GRCm39)	missense	probably damaging	1.00
R6374:Ptpn6	UTSW	6	124,709,532 (GRCm39)	splice site	probably null
R7238:Ptpn6	UTSW	6	124,698,821 (GRCm39)	missense	possibly damaging	0.89
R7381:Ptpn6	UTSW	6	124,705,135 (GRCm39)	missense	probably damaging	1.00
R7935:Ptpn6	UTSW	6	124,709,425 (GRCm39)	missense	possibly damaging	0.93
R8297:Ptpn6	UTSW	6	124,705,614 (GRCm39)	missense	possibly damaging	0.84
R8863:Ptpn6	UTSW	6	124,709,309 (GRCm39)	missense	probably damaging	1.00
R9160:Ptpn6	UTSW	6	124,705,135 (GRCm39)	missense	possibly damaging	0.89
R9176:Ptpn6	UTSW	6	124,702,249 (GRCm39)	missense	probably benign
R9448:Ptpn6	UTSW	6	124,709,771 (GRCm39)	missense	probably damaging	1.00
R9594:Ptpn6	UTSW	6	124,704,728 (GRCm39)	missense	probably benign	0.04
R9756:Ptpn6	UTSW	6	124,705,592 (GRCm39)	missense	probably damaging	1.00
Z1176:Ptpn6	UTSW	6	124,702,039 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGACCTTTCCCAAGCCGACAGATG -3'
(R):5'- CGGGTCTTGGAACTGAACAAGAAGC -3'

Sequencing Primer
(F):5'- GACAGATGTTCTTGTCCCCAGAG -3'
(R):5'- AGTCGGAGGACACAGCC -3'

Posted On

2013-05-09