Incidental Mutation 'IGL01702:Ptprq'
ID 104507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprq
Ensembl Gene ENSMUSG00000035916
Gene Name protein tyrosine phosphatase receptor type Q
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # IGL01702
Quality Score
Status
Chromosome 10
Chromosomal Location 107352910-107555912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107353727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 2263 (N2263S)
Ref Sequence ENSEMBL: ENSMUSP00000058572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050702]
AlphaFold P0C5E4
Predicted Effect probably benign
Transcript: ENSMUST00000050702
AA Change: N2263S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000058572
Gene: ENSMUSG00000035916
AA Change: N2263S

DomainStartEndE-ValueType
FN3 57 141 3.17e-13 SMART
FN3 156 294 1.55e-7 SMART
FN3 307 384 4.45e-8 SMART
FN3 398 555 1.17e-7 SMART
FN3 569 648 7.06e-11 SMART
FN3 666 743 7.68e-12 SMART
FN3 760 839 1.88e-6 SMART
FN3 855 932 1.33e-6 SMART
FN3 949 1037 2.31e-6 SMART
FN3 1054 1135 1.24e-6 SMART
FN3 1151 1229 2.39e-8 SMART
FN3 1244 1325 6.29e-8 SMART
FN3 1341 1416 2.87e-11 SMART
FN3 1431 1524 2.82e-10 SMART
FN3 1540 1622 6.35e-4 SMART
FN3 1642 1732 7.93e-5 SMART
transmembrane domain 1907 1929 N/A INTRINSIC
PTPc 2003 2262 1.14e-130 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7a T C 15: 77,273,886 (GRCm39) probably null Het
Asb2 C T 12: 103,302,164 (GRCm39) G128E possibly damaging Het
Atp11c A T X: 59,315,263 (GRCm39) S683T probably damaging Het
Brinp3 A G 1: 146,627,735 (GRCm39) probably benign Het
Cpeb3 A T 19: 37,103,782 (GRCm39) M369K possibly damaging Het
Exoc5 A T 14: 49,253,072 (GRCm39) C580* probably null Het
Gm9956 A G 10: 56,621,335 (GRCm39) Het
Gzmk C T 13: 113,317,084 (GRCm39) V32I probably damaging Het
Hsf4 T C 8: 105,998,221 (GRCm39) I129T probably damaging Het
Igkv1-115 T A 6: 68,138,516 (GRCm39) W40R probably damaging Het
Iqub A T 6: 24,500,312 (GRCm39) M314K probably benign Het
Krt87 T C 15: 101,389,099 (GRCm39) T78A probably benign Het
Med28 T C 5: 45,682,633 (GRCm39) S100P probably benign Het
Prx G A 7: 27,219,212 (GRCm39) V1238I probably benign Het
Rab12 A G 17: 66,826,384 (GRCm39) F61S probably damaging Het
Serpinb9d T C 13: 33,387,006 (GRCm39) F358S probably damaging Het
Slc25a3 A T 10: 90,953,987 (GRCm39) Y242N probably damaging Het
Smtnl1 T C 2: 84,649,034 (GRCm39) I73M possibly damaging Het
Tnp1 C A 1: 73,054,877 (GRCm39) probably benign Het
Trim5 T C 7: 103,928,638 (GRCm39) E101G probably damaging Het
Other mutations in Ptprq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ptprq APN 10 107,412,790 (GRCm39) missense probably damaging 0.98
IGL00537:Ptprq APN 10 107,546,383 (GRCm39) missense probably benign 0.07
IGL00547:Ptprq APN 10 107,554,402 (GRCm39) missense probably damaging 0.99
IGL00586:Ptprq APN 10 107,443,983 (GRCm39) splice site probably benign
IGL00648:Ptprq APN 10 107,482,577 (GRCm39) missense probably benign 0.10
IGL01123:Ptprq APN 10 107,522,079 (GRCm39) missense probably damaging 0.96
IGL01343:Ptprq APN 10 107,474,700 (GRCm39) missense probably damaging 0.96
IGL01348:Ptprq APN 10 107,547,765 (GRCm39) missense probably damaging 1.00
IGL01433:Ptprq APN 10 107,412,741 (GRCm39) missense probably damaging 0.99
IGL01510:Ptprq APN 10 107,547,909 (GRCm39) missense probably damaging 1.00
IGL01535:Ptprq APN 10 107,535,457 (GRCm39) missense probably benign
IGL01631:Ptprq APN 10 107,479,399 (GRCm39) missense probably benign 0.00
IGL01633:Ptprq APN 10 107,535,584 (GRCm39) splice site probably benign
IGL01733:Ptprq APN 10 107,498,460 (GRCm39) missense probably benign 0.10
IGL01806:Ptprq APN 10 107,535,469 (GRCm39) missense probably damaging 1.00
IGL01832:Ptprq APN 10 107,401,700 (GRCm39) critical splice donor site probably null
IGL01961:Ptprq APN 10 107,479,515 (GRCm39) missense probably damaging 1.00
IGL02108:Ptprq APN 10 107,482,478 (GRCm39) missense probably damaging 1.00
IGL02120:Ptprq APN 10 107,503,333 (GRCm39) missense probably damaging 1.00
IGL02160:Ptprq APN 10 107,489,426 (GRCm39) missense probably benign 0.00
IGL02178:Ptprq APN 10 107,522,180 (GRCm39) missense probably benign 0.03
IGL02249:Ptprq APN 10 107,418,220 (GRCm39) missense probably damaging 1.00
IGL02267:Ptprq APN 10 107,482,419 (GRCm39) missense probably damaging 1.00
IGL02527:Ptprq APN 10 107,522,424 (GRCm39) missense probably benign 0.04
IGL02529:Ptprq APN 10 107,471,226 (GRCm39) missense probably benign 0.03
IGL02542:Ptprq APN 10 107,498,416 (GRCm39) missense probably damaging 1.00
IGL02582:Ptprq APN 10 107,479,860 (GRCm39) missense probably benign 0.00
IGL02708:Ptprq APN 10 107,488,561 (GRCm39) missense probably damaging 1.00
IGL02894:Ptprq APN 10 107,503,285 (GRCm39) missense probably benign
IGL02903:Ptprq APN 10 107,502,447 (GRCm39) missense possibly damaging 0.51
IGL02951:Ptprq APN 10 107,503,321 (GRCm39) missense probably benign 0.03
IGL02982:Ptprq APN 10 107,422,545 (GRCm39) missense probably damaging 1.00
IGL03000:Ptprq APN 10 107,378,518 (GRCm39) missense probably damaging 1.00
IGL03024:Ptprq APN 10 107,521,427 (GRCm39) missense possibly damaging 0.69
IGL03240:Ptprq APN 10 107,524,368 (GRCm39) missense probably benign
P0043:Ptprq UTSW 10 107,416,086 (GRCm39) missense probably benign 0.03
PIT4812001:Ptprq UTSW 10 107,502,428 (GRCm39) missense probably damaging 1.00
R0200:Ptprq UTSW 10 107,521,018 (GRCm39) missense probably benign
R0268:Ptprq UTSW 10 107,541,409 (GRCm39) missense probably benign
R0276:Ptprq UTSW 10 107,378,596 (GRCm39) critical splice acceptor site probably null
R0279:Ptprq UTSW 10 107,444,278 (GRCm39) missense probably damaging 0.96
R0335:Ptprq UTSW 10 107,544,589 (GRCm39) missense probably benign
R0344:Ptprq UTSW 10 107,541,443 (GRCm39) missense probably benign
R0357:Ptprq UTSW 10 107,522,060 (GRCm39) splice site probably benign
R0454:Ptprq UTSW 10 107,418,391 (GRCm39) nonsense probably null
R0479:Ptprq UTSW 10 107,479,855 (GRCm39) nonsense probably null
R0491:Ptprq UTSW 10 107,444,036 (GRCm39) missense probably damaging 0.98
R0519:Ptprq UTSW 10 107,374,781 (GRCm39) splice site probably benign
R0523:Ptprq UTSW 10 107,416,081 (GRCm39) missense possibly damaging 0.54
R0553:Ptprq UTSW 10 107,546,488 (GRCm39) missense probably benign 0.33
R0746:Ptprq UTSW 10 107,353,692 (GRCm39) missense probably damaging 1.00
R0755:Ptprq UTSW 10 107,418,400 (GRCm39) missense probably benign 0.09
R1434:Ptprq UTSW 10 107,422,575 (GRCm39) missense probably damaging 1.00
R1445:Ptprq UTSW 10 107,498,423 (GRCm39) missense probably damaging 1.00
R1470:Ptprq UTSW 10 107,554,435 (GRCm39) missense probably damaging 0.97
R1470:Ptprq UTSW 10 107,554,435 (GRCm39) missense probably damaging 0.97
R1558:Ptprq UTSW 10 107,479,904 (GRCm39) missense probably damaging 1.00
R1567:Ptprq UTSW 10 107,401,748 (GRCm39) missense probably benign 0.13
R1711:Ptprq UTSW 10 107,370,560 (GRCm39) nonsense probably null
R1720:Ptprq UTSW 10 107,522,155 (GRCm39) missense probably damaging 1.00
R1746:Ptprq UTSW 10 107,474,691 (GRCm39) missense probably damaging 1.00
R1776:Ptprq UTSW 10 107,520,950 (GRCm39) missense probably damaging 1.00
R1822:Ptprq UTSW 10 107,554,339 (GRCm39) missense probably damaging 1.00
R1872:Ptprq UTSW 10 107,479,860 (GRCm39) missense probably benign 0.19
R1944:Ptprq UTSW 10 107,418,249 (GRCm39) missense probably benign 0.23
R1945:Ptprq UTSW 10 107,418,249 (GRCm39) missense probably benign 0.23
R2006:Ptprq UTSW 10 107,502,407 (GRCm39) missense probably damaging 1.00
R2014:Ptprq UTSW 10 107,503,283 (GRCm39) missense probably damaging 0.96
R2015:Ptprq UTSW 10 107,503,283 (GRCm39) missense probably damaging 0.96
R2097:Ptprq UTSW 10 107,489,354 (GRCm39) missense probably benign 0.05
R2172:Ptprq UTSW 10 107,426,855 (GRCm39) nonsense probably null
R2174:Ptprq UTSW 10 107,541,414 (GRCm39) missense probably damaging 1.00
R2248:Ptprq UTSW 10 107,478,931 (GRCm39) splice site probably null
R2404:Ptprq UTSW 10 107,522,460 (GRCm39) missense probably damaging 1.00
R3423:Ptprq UTSW 10 107,418,337 (GRCm39) missense probably damaging 0.99
R3683:Ptprq UTSW 10 107,544,489 (GRCm39) missense probably benign 0.01
R3875:Ptprq UTSW 10 107,520,965 (GRCm39) missense possibly damaging 0.88
R3945:Ptprq UTSW 10 107,522,253 (GRCm39) splice site probably benign
R3946:Ptprq UTSW 10 107,522,253 (GRCm39) splice site probably benign
R3974:Ptprq UTSW 10 107,547,923 (GRCm39) missense possibly damaging 0.88
R3982:Ptprq UTSW 10 107,379,257 (GRCm39) missense probably damaging 0.99
R4105:Ptprq UTSW 10 107,408,828 (GRCm39) missense probably damaging 1.00
R4118:Ptprq UTSW 10 107,547,781 (GRCm39) missense probably benign 0.37
R4175:Ptprq UTSW 10 107,547,778 (GRCm39) missense probably benign
R4231:Ptprq UTSW 10 107,522,144 (GRCm39) nonsense probably null
R4356:Ptprq UTSW 10 107,444,225 (GRCm39) missense probably damaging 0.99
R4435:Ptprq UTSW 10 107,520,916 (GRCm39) missense possibly damaging 0.89
R4678:Ptprq UTSW 10 107,521,043 (GRCm39) missense probably benign 0.19
R4679:Ptprq UTSW 10 107,521,043 (GRCm39) missense probably benign 0.19
R4745:Ptprq UTSW 10 107,360,114 (GRCm39) missense probably damaging 1.00
R4771:Ptprq UTSW 10 107,524,288 (GRCm39) missense probably benign
R4778:Ptprq UTSW 10 107,426,883 (GRCm39) missense probably benign 0.15
R4808:Ptprq UTSW 10 107,554,368 (GRCm39) missense probably damaging 1.00
R4809:Ptprq UTSW 10 107,399,036 (GRCm39) missense probably damaging 1.00
R4818:Ptprq UTSW 10 107,546,442 (GRCm39) missense possibly damaging 0.86
R4845:Ptprq UTSW 10 107,489,393 (GRCm39) missense probably benign 0.00
R4901:Ptprq UTSW 10 107,524,275 (GRCm39) missense probably benign 0.01
R4942:Ptprq UTSW 10 107,524,290 (GRCm39) missense probably benign 0.01
R4946:Ptprq UTSW 10 107,361,595 (GRCm39) missense probably benign
R4959:Ptprq UTSW 10 107,522,416 (GRCm39) missense probably damaging 1.00
R4973:Ptprq UTSW 10 107,522,416 (GRCm39) missense probably damaging 1.00
R5007:Ptprq UTSW 10 107,444,137 (GRCm39) missense probably benign 0.00
R5053:Ptprq UTSW 10 107,399,063 (GRCm39) missense probably damaging 1.00
R5055:Ptprq UTSW 10 107,370,540 (GRCm39) missense probably benign 0.37
R5090:Ptprq UTSW 10 107,361,950 (GRCm39) missense probably damaging 1.00
R5158:Ptprq UTSW 10 107,370,565 (GRCm39) missense probably damaging 1.00
R5163:Ptprq UTSW 10 107,360,192 (GRCm39) missense probably damaging 1.00
R5222:Ptprq UTSW 10 107,498,425 (GRCm39) missense probably damaging 0.96
R5244:Ptprq UTSW 10 107,422,556 (GRCm39) missense possibly damaging 0.62
R5249:Ptprq UTSW 10 107,535,496 (GRCm39) missense probably damaging 0.99
R5503:Ptprq UTSW 10 107,524,189 (GRCm39) splice site probably null
R5508:Ptprq UTSW 10 107,522,092 (GRCm39) missense probably benign 0.00
R5601:Ptprq UTSW 10 107,444,291 (GRCm39) missense probably benign
R5722:Ptprq UTSW 10 107,522,226 (GRCm39) missense possibly damaging 0.72
R5819:Ptprq UTSW 10 107,555,744 (GRCm39) start gained probably benign
R5862:Ptprq UTSW 10 107,401,739 (GRCm39) missense probably benign 0.02
R5891:Ptprq UTSW 10 107,412,756 (GRCm39) missense possibly damaging 0.94
R5916:Ptprq UTSW 10 107,359,374 (GRCm39) missense probably damaging 1.00
R6054:Ptprq UTSW 10 107,418,219 (GRCm39) missense probably damaging 1.00
R6058:Ptprq UTSW 10 107,471,135 (GRCm39) missense probably benign 0.00
R6075:Ptprq UTSW 10 107,361,621 (GRCm39) missense probably damaging 1.00
R6101:Ptprq UTSW 10 107,416,127 (GRCm39) missense possibly damaging 0.93
R6189:Ptprq UTSW 10 107,353,748 (GRCm39) missense probably damaging 1.00
R6235:Ptprq UTSW 10 107,471,199 (GRCm39) missense possibly damaging 0.61
R6351:Ptprq UTSW 10 107,544,529 (GRCm39) missense probably damaging 0.99
R6394:Ptprq UTSW 10 107,478,804 (GRCm39) nonsense probably null
R6449:Ptprq UTSW 10 107,541,444 (GRCm39) missense probably benign 0.00
R6526:Ptprq UTSW 10 107,378,514 (GRCm39) nonsense probably null
R6544:Ptprq UTSW 10 107,444,102 (GRCm39) missense probably damaging 1.00
R6609:Ptprq UTSW 10 107,408,829 (GRCm39) missense probably damaging 0.99
R6862:Ptprq UTSW 10 107,522,086 (GRCm39) missense probably damaging 0.96
R6874:Ptprq UTSW 10 107,554,460 (GRCm39) missense possibly damaging 0.80
R6892:Ptprq UTSW 10 107,411,865 (GRCm39) missense probably benign 0.00
R7082:Ptprq UTSW 10 107,544,591 (GRCm39) missense probably benign 0.10
R7210:Ptprq UTSW 10 107,521,032 (GRCm39) missense probably damaging 1.00
R7253:Ptprq UTSW 10 107,444,134 (GRCm39) missense probably benign 0.30
R7293:Ptprq UTSW 10 107,471,367 (GRCm39) nonsense probably null
R7445:Ptprq UTSW 10 107,426,820 (GRCm39) missense probably damaging 1.00
R7632:Ptprq UTSW 10 107,547,783 (GRCm39) missense probably benign 0.32
R7685:Ptprq UTSW 10 107,479,839 (GRCm39) missense probably damaging 1.00
R7703:Ptprq UTSW 10 107,480,007 (GRCm39) missense probably benign 0.01
R7774:Ptprq UTSW 10 107,479,530 (GRCm39) missense probably damaging 0.96
R7897:Ptprq UTSW 10 107,546,484 (GRCm39) missense probably benign 0.21
R7936:Ptprq UTSW 10 107,488,572 (GRCm39) missense probably damaging 1.00
R7983:Ptprq UTSW 10 107,444,272 (GRCm39) nonsense probably null
R8023:Ptprq UTSW 10 107,488,477 (GRCm39) nonsense probably null
R8071:Ptprq UTSW 10 107,479,896 (GRCm39) missense possibly damaging 0.62
R8084:Ptprq UTSW 10 107,444,294 (GRCm39) missense probably benign
R8086:Ptprq UTSW 10 107,482,500 (GRCm39) nonsense probably null
R8169:Ptprq UTSW 10 107,418,351 (GRCm39) missense probably damaging 1.00
R8223:Ptprq UTSW 10 107,535,499 (GRCm39) missense probably benign 0.00
R8235:Ptprq UTSW 10 107,541,351 (GRCm39) missense probably benign 0.32
R8235:Ptprq UTSW 10 107,418,402 (GRCm39) missense probably damaging 1.00
R8278:Ptprq UTSW 10 107,522,239 (GRCm39) missense possibly damaging 0.87
R8710:Ptprq UTSW 10 107,411,919 (GRCm39) missense possibly damaging 0.67
R8828:Ptprq UTSW 10 107,482,513 (GRCm39) missense probably benign
R8830:Ptprq UTSW 10 107,422,556 (GRCm39) missense possibly damaging 0.62
R8869:Ptprq UTSW 10 107,535,469 (GRCm39) missense probably damaging 1.00
R9012:Ptprq UTSW 10 107,489,411 (GRCm39) missense probably benign 0.09
R9072:Ptprq UTSW 10 107,401,736 (GRCm39) missense
R9153:Ptprq UTSW 10 107,416,126 (GRCm39) missense probably damaging 0.98
R9202:Ptprq UTSW 10 107,522,416 (GRCm39) missense probably damaging 1.00
R9252:Ptprq UTSW 10 107,522,247 (GRCm39) missense probably benign 0.12
R9306:Ptprq UTSW 10 107,422,599 (GRCm39) missense probably benign 0.00
R9492:Ptprq UTSW 10 107,478,813 (GRCm39) missense probably damaging 1.00
R9519:Ptprq UTSW 10 107,520,961 (GRCm39) missense probably damaging 1.00
R9581:Ptprq UTSW 10 107,547,771 (GRCm39) missense possibly damaging 0.53
R9593:Ptprq UTSW 10 107,524,254 (GRCm39) missense possibly damaging 0.92
R9621:Ptprq UTSW 10 107,378,523 (GRCm39) missense probably damaging 1.00
R9732:Ptprq UTSW 10 107,412,767 (GRCm39) missense probably damaging 1.00
R9743:Ptprq UTSW 10 107,520,982 (GRCm39) missense probably damaging 1.00
R9771:Ptprq UTSW 10 107,521,085 (GRCm39) missense probably damaging 0.99
R9788:Ptprq UTSW 10 107,401,751 (GRCm39) missense probably benign 0.24
Z1088:Ptprq UTSW 10 107,535,533 (GRCm39) missense possibly damaging 0.56
Z1176:Ptprq UTSW 10 107,361,931 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21