Mutagenetix > Incidental Mutation

Incidental Mutation 'R6056:Ptpn6'

484392

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

044223-MU

Accession Numbers

Essential gene?

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

Stock #

R6056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124697670-124715672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124709398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 25 (Y25C)

Ref Sequence

ENSEMBL: ENSMUSP00000133991 (fasta)

Gene Model

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

AlphaFold

P29351

Predicted Effect

probably damaging
Transcript: ENSMUST00000004377
AA Change: Y66C

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

SMART Domains

Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266
AA Change: Y66C

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: Y64C

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

SMART Domains

Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266
AA Change: Y64C

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

probably damaging
Transcript: ENSMUST00000171549
AA Change: Y66C

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

SMART Domains

Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266
AA Change: Y66C

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: ENSMUST00000173647
AA Change: Y43C

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

SMART Domains

Protein: ENSMUSP00000133747
Gene: ENSMUSG00000004266
AA Change: Y43C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174265
AA Change: Y25C

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

SMART Domains

Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266
AA Change: Y25C

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

Meta Mutation Damage Score

0.8384

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

96% (99/103)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,115 (GRCm39)	W162R	probably benign	Het
4930438A08Rik	C	A	11: 58,184,464 (GRCm39)	P394H	probably damaging	Het
Aggf1	C	T	13: 95,508,123 (GRCm39)	C81Y	probably benign	Het
Agxt2	A	T	15: 10,378,963 (GRCm39)	D188V	probably damaging	Het
Angpt2	T	C	8: 18,748,132 (GRCm39)	K376R	probably benign	Het
Anxa5	A	G	3: 36,504,840 (GRCm39)	S241P	probably damaging	Het
Aox3	A	T	1: 58,209,018 (GRCm39)	K850N	probably damaging	Het
Arid5a	T	C	1: 36,358,473 (GRCm39)	M415T	probably benign	Het
Aspa	T	A	11: 73,199,578 (GRCm39)	N233I	probably damaging	Het
Atp4b	C	T	8: 13,438,782 (GRCm39)	R198Q	probably damaging	Het
Atp8b2	A	T	3: 89,853,528 (GRCm39)	V719E	possibly damaging	Het
Bltp2	C	A	11: 78,162,210 (GRCm39)	L691I	possibly damaging	Het
Cacna1s	T	G	1: 136,033,574 (GRCm39)	V1017G	probably damaging	Het
Chrna4	G	T	2: 180,671,235 (GRCm39)	Q174K	probably damaging	Het
Chrnb1	A	T	11: 69,677,765 (GRCm39)	V329D	probably damaging	Het
Chst14	T	C	2: 118,758,214 (GRCm39)	L336P	probably damaging	Het
Clec2e	T	C	6: 129,077,772 (GRCm39)	D22G	probably benign	Het
Csrnp2	A	C	15: 100,380,263 (GRCm39)	S343A	probably benign	Het
Dapl1	C	A	2: 59,315,057 (GRCm39)	A2E	probably damaging	Het
Dlec1	G	T	9: 118,950,991 (GRCm39)	R519L	probably damaging	Het
Dmgdh	T	A	13: 93,845,251 (GRCm39)	F415I	possibly damaging	Het
Dmgdh	T	C	13: 93,888,834 (GRCm39)	V824A	probably damaging	Het
Dnah11	T	G	12: 117,892,191 (GRCm39)	T3661P	probably benign	Het
Dnah3	A	G	7: 119,629,254 (GRCm39)	F1434L	probably damaging	Het
Dnajc11	C	A	4: 152,062,583 (GRCm39)		probably benign	Het
Dot1l	A	G	10: 80,621,929 (GRCm39)	E527G	probably damaging	Het
Drc7	T	C	8: 95,801,679 (GRCm39)	L680P	probably damaging	Het
Dysf	T	C	6: 84,083,844 (GRCm39)	Y742H	probably benign	Het
Ece1	A	G	4: 137,688,958 (GRCm39)	Y665C	probably damaging	Het
Emc1	A	G	4: 139,081,533 (GRCm39)	K54E	possibly damaging	Het
Enoph1	C	T	5: 100,215,760 (GRCm39)	T247M	probably damaging	Het
Exoc2	T	C	13: 31,084,812 (GRCm39)	K383R	probably benign	Het
Fam227b	A	T	2: 125,962,972 (GRCm39)	H181Q	probably damaging	Het
Fsip2	A	T	2: 82,816,017 (GRCm39)	M3917L	probably benign	Het
Gtf3a	T	A	5: 146,892,338 (GRCm39)		probably benign	Het
Hgfac	T	A	5: 35,198,973 (GRCm39)	C11*	probably null	Het
Hmcn1	C	A	1: 150,539,660 (GRCm39)	A2944S	probably damaging	Het
Hps5	T	A	7: 46,416,521 (GRCm39)	Y947F	probably benign	Het
Ighv2-5	A	T	12: 113,649,120 (GRCm39)	I111K	probably benign	Het
Inpp5e	A	T	2: 26,297,860 (GRCm39)	L247*	probably null	Het
Kbtbd11	T	C	8: 15,077,577 (GRCm39)	S59P	probably benign	Het
Kctd19	G	A	8: 106,123,082 (GRCm39)	H111Y	probably damaging	Het
Kif1a	T	C	1: 92,952,370 (GRCm39)	D1303G	probably damaging	Het
Kif7	A	G	7: 79,363,842 (GRCm39)	V22A	possibly damaging	Het
Lrit3	A	T	3: 129,583,004 (GRCm39)	C328S	probably damaging	Het
Lrrc37a	G	T	11: 103,388,484 (GRCm39)	Q2314K	unknown	Het
LTO1	G	T	7: 144,469,023 (GRCm39)	V17L	possibly damaging	Het
Lurap1	G	T	4: 115,994,599 (GRCm39)	P211T	possibly damaging	Het
Mbd2	T	A	18: 70,713,874 (GRCm39)	N5K	possibly damaging	Het
Mbtps1	A	C	8: 120,242,341 (GRCm39)	L894V	probably benign	Het
Mefv	G	A	16: 3,525,906 (GRCm39)	S787F	possibly damaging	Het
Miip	T	A	4: 147,946,792 (GRCm39)	I289F	probably damaging	Het
Mogat2	T	A	7: 98,872,720 (GRCm39)	I155F	possibly damaging	Het
Mpp3	C	A	11: 101,902,515 (GRCm39)		probably null	Het
Mrrf	A	G	2: 36,067,233 (GRCm39)	K220E	probably damaging	Het
Mtmr6	C	T	14: 60,535,619 (GRCm39)	P485L	probably damaging	Het
Mtor	G	A	4: 148,621,892 (GRCm39)	R1896K	probably benign	Het
Myh3	C	T	11: 66,978,371 (GRCm39)	P453S	probably benign	Het
Nebl	A	G	2: 17,455,045 (GRCm39)	V112A	probably benign	Het
Nmnat2	G	A	1: 152,950,480 (GRCm39)	W55*	probably null	Het
Nprl3	A	G	11: 32,217,432 (GRCm39)	S37P	probably damaging	Het
Or4a73	T	C	2: 89,421,445 (GRCm39)	N5D	possibly damaging	Het
Pcdhga4	T	G	18: 37,819,383 (GRCm39)	S311A	probably benign	Het
Pcdhgb6	T	C	18: 37,876,165 (GRCm39)	V291A	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,712,570 (GRCm39)	E884G	probably damaging	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Phf12	A	G	11: 77,900,341 (GRCm39)	T146A	probably benign	Het
Polr3k	C	G	2: 181,506,281 (GRCm39)	N10K	probably damaging	Het
Prickle4	C	A	17: 48,001,135 (GRCm39)	G144C	probably damaging	Het
Rad1	A	G	15: 10,488,160 (GRCm39)	I95V	probably damaging	Het
Rad23b	A	G	4: 55,382,540 (GRCm39)	T248A	probably benign	Het
Rapgef3	T	C	15: 97,656,742 (GRCm39)	D299G	probably damaging	Het
Rcc2	T	G	4: 140,444,335 (GRCm39)	V342G	possibly damaging	Het
Rgs3	G	T	4: 62,544,143 (GRCm39)	R136L	probably damaging	Het
Scube2	A	T	7: 109,432,220 (GRCm39)	C399*	probably null	Het
Serpinb3d	T	C	1: 107,007,452 (GRCm39)	Y178C	probably damaging	Het
Slc1a7	A	G	4: 107,869,458 (GRCm39)	T508A	probably benign	Het
Slc29a4	C	T	5: 142,705,832 (GRCm39)	R439C	probably damaging	Het
Sntg2	A	G	12: 30,362,560 (GRCm39)	I62T	probably benign	Het
Sowaha	G	A	11: 53,369,914 (GRCm39)	P274L	probably damaging	Het
Sptan1	A	G	2: 29,886,794 (GRCm39)	N869S	probably benign	Het
Stx18	C	A	5: 38,263,908 (GRCm39)	A64D	probably damaging	Het
Stxbp5	A	G	10: 9,646,430 (GRCm39)	V94A	probably benign	Het
Sult1a1	T	A	7: 126,275,624 (GRCm39)		probably null	Het
Susd1	G	T	4: 59,379,687 (GRCm39)	H313Q	possibly damaging	Het
Tdrd9	A	T	12: 111,951,475 (GRCm39)	K88N	probably damaging	Het
Tlr5	A	C	1: 182,801,603 (GRCm39)	R302S	possibly damaging	Het
Tnr	C	T	1: 159,714,479 (GRCm39)	T786I	probably damaging	Het
Tprg1l	A	G	4: 154,244,552 (GRCm39)	S148P	probably damaging	Het
Trpc4ap	T	A	2: 155,512,994 (GRCm39)	N127I	probably damaging	Het
Tulp2	T	A	7: 45,139,797 (GRCm39)		probably null	Het
Uggt2	C	T	14: 119,273,381 (GRCm39)		probably null	Het
Ulk4	T	A	9: 121,102,021 (GRCm39)	Y19F	probably damaging	Het
Upf1	T	C	8: 70,785,687 (GRCm39)	Y1053C	probably damaging	Het
Vars2	A	T	17: 35,976,680 (GRCm39)	H223Q	probably benign	Het
Vmn2r106	T	A	17: 20,487,806 (GRCm39)		probably null	Het
Ythdc2	T	A	18: 44,973,277 (GRCm39)	F305I	probably damaging	Het
Zfp281	T	C	1: 136,553,178 (GRCm39)	F52S	possibly damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp335	A	T	2: 164,737,018 (GRCm39)		probably null	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
R0254:Ptpn6	UTSW	6	124,705,113 (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
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'- ACTTATCTCAAGGGACAGGGC -3'
(R):5'- CCTTGGCAGCTCATTGTGTG -3'

Posted On

2017-07-14