Incidental Mutation 'R5807:Ptpn6'
ID 448580
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 043393-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.489) question?
Stock # R5807 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 124697670-124715672 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124701947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 406 (H406R)
Ref Sequence ENSEMBL: ENSMUSP00000133991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004377] [ENSMUST00000112484] [ENSMUST00000171549] [ENSMUST00000174265] [ENSMUST00000174787]
AlphaFold P29351
Predicted Effect probably benign
Transcript: ENSMUST00000004377
AA Change: H447R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266
AA Change: H447R

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000112484
AA Change: H445R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266
AA Change: H445R

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000171549
AA Change: H447R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266
AA Change: H447R

DomainStartEndE-ValueType
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: ENSMUST00000173228
Predicted Effect probably benign
Transcript: ENSMUST00000174265
AA Change: H406R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266
AA Change: H406R

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000173315
SMART Domains Protein: ENSMUSP00000134274
Gene: ENSMUSG00000004266

DomainStartEndE-ValueType
SCOP:d1eeoa_ 2 38 1e-3 SMART
PDB:3PS5|A 2 91 2e-41 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000174787
Meta Mutation Damage Score 0.1053 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (65/66)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,342,651 (GRCm39) L943P probably damaging Het
Abcg5 C A 17: 84,979,719 (GRCm39) V214F probably damaging Het
Ang T A 14: 51,338,886 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,523,546 (GRCm39) probably null Het
Arhgef4 A G 1: 34,846,696 (GRCm39) probably benign Het
Atp11b T C 3: 35,866,428 (GRCm39) I409T probably damaging Het
Atp5f1b G A 10: 127,924,431 (GRCm39) probably benign Het
Atp9a G A 2: 168,495,454 (GRCm39) A660V probably damaging Het
Avpr1a A G 10: 122,285,376 (GRCm39) T223A probably benign Het
Bmp2k T C 5: 97,211,353 (GRCm39) M507T unknown Het
Cep295 A G 9: 15,243,828 (GRCm39) S287P probably damaging Het
Chrna7 T A 7: 62,798,349 (GRCm39) D111V probably damaging Het
Clxn A T 16: 14,734,836 (GRCm39) I69F probably benign Het
Cnr2 A G 4: 135,644,747 (GRCm39) D275G probably benign Het
Col28a1 T A 6: 8,158,144 (GRCm39) M305L probably benign Het
Cpb1 T A 3: 20,317,906 (GRCm39) D206V probably damaging Het
Cyp2c50 T C 19: 40,101,944 (GRCm39) L453S probably damaging Het
Ddx52 T G 11: 83,840,508 (GRCm39) S284A probably benign Het
Eif2ak4 G T 2: 118,219,332 (GRCm39) R48L probably benign Het
Esrrb A G 12: 86,561,175 (GRCm39) E303G possibly damaging Het
Fbxo21 A G 5: 118,114,933 (GRCm39) E23G probably benign Het
Fcamr T C 1: 130,739,263 (GRCm39) S188P probably damaging Het
Fer1l6 C A 15: 58,462,399 (GRCm39) S818* probably null Het
Fn1 T C 1: 71,687,218 (GRCm39) D213G probably damaging Het
Gcg A G 2: 62,306,069 (GRCm39) I176T possibly damaging Het
Glis1 T A 4: 107,425,279 (GRCm39) S109T probably benign Het
Gm266 T C 12: 111,452,173 (GRCm39) D11G probably benign Het
Gm5070 C A 3: 95,317,965 (GRCm39) noncoding transcript Het
Gm8444 T C 15: 81,727,654 (GRCm39) probably benign Het
Golga4 A G 9: 118,356,198 (GRCm39) T117A probably damaging Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Gvin-ps5 T A 7: 105,929,430 (GRCm39) noncoding transcript Het
Herc2 T A 7: 55,880,667 (GRCm39) F4766L probably damaging Het
Inhbc C A 10: 127,193,411 (GRCm39) E202* probably null Het
Kcnu1 C T 8: 26,339,742 (GRCm39) T20I possibly damaging Het
Klhdc3 T C 17: 46,988,391 (GRCm39) D161G probably damaging Het
Krt84 T A 15: 101,438,647 (GRCm39) K280M probably damaging Het
Krtap9-5 T A 11: 99,839,895 (GRCm39) C199S unknown Het
Mrgprb3 A G 7: 48,293,110 (GRCm39) V147A probably benign Het
Ndufs6 A T 13: 73,475,553 (GRCm39) F48L probably damaging Het
Obscn T C 11: 58,970,476 (GRCm39) S2586G probably damaging Het
Or10n1 A G 9: 39,525,759 (GRCm39) R299G probably benign Het
Or13c7b C A 4: 43,820,912 (GRCm39) V150L probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Osbpl6 A G 2: 76,414,857 (GRCm39) D416G probably damaging Het
Pdilt A G 7: 119,099,766 (GRCm39) probably benign Het
Phf12 C A 11: 77,913,252 (GRCm39) D401E probably benign Het
Pla2r1 C T 2: 60,259,065 (GRCm39) V1108M possibly damaging Het
Prim2 A G 1: 33,519,487 (GRCm39) probably benign Het
Qpctl G T 7: 18,877,132 (GRCm39) H329N probably damaging Het
Ripk3 T A 14: 56,022,755 (GRCm39) N390Y probably damaging Het
Rnase1 A G 14: 51,382,907 (GRCm39) V149A probably benign Het
Rtn3 T A 19: 7,434,192 (GRCm39) D581V probably damaging Het
Slamf1 A G 1: 171,602,630 (GRCm39) Y119C probably damaging Het
Slc25a34 A G 4: 141,350,973 (GRCm39) M12T probably benign Het
Tmem38a A G 8: 73,333,944 (GRCm39) Y141C probably damaging Het
Tnr C T 1: 159,714,500 (GRCm39) T793I possibly damaging Het
Tns3 T C 11: 8,443,211 (GRCm39) D384G probably damaging Het
Vmn2r116 T A 17: 23,606,281 (GRCm39) Y398N probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Other mutations in Ptpn6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGACTCAGCATCGTTCCTCAAC -3'
(R):5'- TTGTGTGGAAGCAGCAGAC -3'

Sequencing Primer
(F):5'- TGTTAGTACGCCATGAGCAC -3'
(R):5'- GGAAGCAGCAGACATTACCTCTTTG -3'
Posted On 2016-12-15