Incidental Mutation 'IGL02276:Ptpn6'
ID287330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn6
Ensembl Gene ENSMUSG00000004266
Gene Nameprotein tyrosine phosphatase, non-receptor type 6
SynonymsHcph, hcp, SHP-1, Ptp1C
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.573) question?
Stock #IGL02276
Quality Score
Status
Chromosome6
Chromosomal Location124720707-124738714 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 124728865 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 105 (D105E)
Ref Sequence ENSEMBL: ENSMUSP00000133991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004377] [ENSMUST00000112484] [ENSMUST00000171549] [ENSMUST00000174265]
Predicted Effect probably null
Transcript: ENSMUST00000004377
AA Change: D146E

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266
AA Change: D146E

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 null
Transcript: ENSMUST00000112484
AA Change: D144E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266
AA Change: D144E

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 null
Transcript: ENSMUST00000171549
AA Change: D146E

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266
AA Change: D146E

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 noncoding transcript
Transcript: ENSMUST00000172770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173228
Predicted Effect probably null
Transcript: ENSMUST00000174265
AA Change: D105E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266
AA Change: D105E

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 noncoding transcript
Transcript: ENSMUST00000174861
Coding Region Coverage
Validation Efficiency
MGI 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.
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,559,128 V1140A probably damaging Het
B020004J07Rik T C 4: 101,838,109 S2G possibly damaging Het
Ccdc88b A G 19: 6,856,107 probably null Het
Cep135 A G 5: 76,634,246 N904S probably benign Het
Dnajc12 G A 10: 63,408,258 R109Q probably damaging Het
Dpp4 A G 2: 62,356,951 noncoding transcript Het
Duox2 A T 2: 122,294,085 N380K probably benign Het
Dusp11 A T 6: 85,958,617 D91E probably damaging Het
Fkbp15 C A 4: 62,336,466 E266* probably null Het
Gm10337 A G 15: 102,503,734 V324A probably damaging Het
Gm4951 A T 18: 60,246,079 I229F probably damaging Het
Grik3 A T 4: 125,623,502 D46V possibly damaging Het
Hdac9 G A 12: 34,431,926 T157I probably damaging Het
Large1 T A 8: 72,818,093 M686L probably benign Het
Lca5 C A 9: 83,398,585 L387F possibly damaging Het
Mtmr9 A T 14: 63,530,276 W295R probably damaging Het
Olfr132 A G 17: 38,130,593 S200P probably damaging Het
Olfr194 A C 16: 59,120,015 D18E probably benign Het
Phf20l1 T A 15: 66,615,410 probably null Het
Plce1 A G 19: 38,524,757 S167G probably benign Het
Plekha6 C A 1: 133,293,861 D934E possibly damaging Het
Rtp1 T C 16: 23,431,313 S143P probably benign Het
Rttn A C 18: 89,048,454 Q1208P possibly damaging Het
Snx27 A T 3: 94,531,379 V183D probably damaging Het
Stim2 T C 5: 54,053,370 Het
Trak1 A T 9: 121,451,668 E374D probably damaging Het
Ttn A T 2: 76,943,882 Het
Vmn2r4 G A 3: 64,406,456 T279I possibly damaging Het
Vmn2r73 A T 7: 85,869,772 probably null Het
Zfp819 G A 7: 43,612,004 V32I probably damaging Het
Other mutations in Ptpn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00710:Ptpn6 APN 6 124732356 missense probably null
IGL01490:Ptpn6 APN 6 124728344 missense probably damaging 1.00
IGL01865:Ptpn6 APN 6 124732465 missense probably damaging 1.00
IGL02017:Ptpn6 APN 6 124732486 missense probably benign 0.00
IGL02272:Ptpn6 APN 6 124721208 missense probably damaging 0.99
IGL02556:Ptpn6 APN 6 124728660 missense probably benign 0.00
candle UTSW 6 124728419 missense probably damaging 1.00
farfalla_notturna UTSW 6 124732435 missense probably damaging 1.00
spin UTSW 6 124728559 missense probably damaging 0.99
spin2 UTSW 6 124732369 missense probably damaging 1.00
Vermeil UTSW 6 124732950 missense probably benign 0.10
R0183:Ptpn6 UTSW 6 124728951 missense probably damaging 1.00
R0254:Ptpn6 UTSW 6 124728150 missense probably damaging 1.00
R0636:Ptpn6 UTSW 6 124725279 missense probably benign
R0835:Ptpn6 UTSW 6 124727536 critical splice acceptor site probably null
R1383:Ptpn6 UTSW 6 124721893 missense probably damaging 1.00
R1638:Ptpn6 UTSW 6 124721185 missense probably benign
R1900:Ptpn6 UTSW 6 124728933 missense probably benign 0.15
R2047:Ptpn6 UTSW 6 124721789 missense probably benign 0.42
R2143:Ptpn6 UTSW 6 124724984 missense probably benign 0.01
R3907:Ptpn6 UTSW 6 124725276 missense possibly damaging 0.86
R4082:Ptpn6 UTSW 6 124728419 missense probably damaging 1.00
R4382:Ptpn6 UTSW 6 124727398 missense possibly damaging 0.86
R5319:Ptpn6 UTSW 6 124732950 missense probably benign 0.10
R5807:Ptpn6 UTSW 6 124724984 missense probably benign
R5878:Ptpn6 UTSW 6 124728785 missense probably damaging 1.00
R6056:Ptpn6 UTSW 6 124732435 missense probably damaging 1.00
Posted OnApr 16, 2015