Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01535:Ptprq'

89923

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 #

IGL01535

Quality Score

Status

Chromosome

Chromosomal Location

107352910-107555912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107535457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 436 (S436L)

Ref Sequence

ENSEMBL: ENSMUSP00000058572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050702]

AlphaFold

P0C5E4

Predicted Effect

probably benign
Transcript: ENSMUST00000050702
AA Change: S436L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058572
Gene: ENSMUSG00000035916
AA Change: S436L

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218399

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,101,891 (GRCm39)	S654T	probably benign	Het
Brd10	T	C	19: 29,731,212 (GRCm39)	H600R	possibly damaging	Het
Cacnb3	A	T	15: 98,537,469 (GRCm39)	Q49L	probably benign	Het
Dapk1	A	G	13: 60,878,845 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,566,846 (GRCm39)	L1091*	probably null	Het
Epb42	A	G	2: 120,858,169 (GRCm39)	V263A	probably damaging	Het
Fig4	T	G	10: 41,132,490 (GRCm39)	S439R	probably benign	Het
Gatc	A	T	5: 115,479,048 (GRCm39)	V54E	possibly damaging	Het
Hook2	T	C	8: 85,729,618 (GRCm39)	L686P	probably benign	Het
Med12l	A	T	3: 59,169,680 (GRCm39)	T1615S	probably damaging	Het
Msr1	C	T	8: 40,064,714 (GRCm39)	G320D	probably benign	Het
Nbeal1	T	A	1: 60,256,414 (GRCm39)	F220I	probably damaging	Het
Or14j2	T	A	17: 37,885,679 (GRCm39)	I212F	possibly damaging	Het
Or2l5	G	A	16: 19,334,228 (GRCm39)	H53Y	probably benign	Het
Pcdh10	A	T	3: 45,334,078 (GRCm39)	I131F	probably damaging	Het
Phlpp2	A	G	8: 110,660,697 (GRCm39)	E784G	possibly damaging	Het
Prr36	A	T	8: 4,264,043 (GRCm39)		probably benign	Het
Rock1	T	A	18: 10,132,119 (GRCm39)		probably benign	Het
Sash1	T	G	10: 8,617,341 (GRCm39)	T522P	probably damaging	Het
Serpinb2	T	C	1: 107,447,503 (GRCm39)		probably null	Het
Supt16	T	C	14: 52,414,647 (GRCm39)	K422E	probably damaging	Het
Syt14	T	G	1: 192,669,073 (GRCm39)	D60A	probably damaging	Het
Tbc1d2b	A	C	9: 90,097,526 (GRCm39)		probably benign	Het
Thsd7b	T	C	1: 129,605,954 (GRCm39)	I565T	possibly damaging	Het
Ttn	A	G	2: 76,564,536 (GRCm39)	Y28534H	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vps13b	A	T	15: 35,455,103 (GRCm39)	N671Y	possibly damaging	Het

Other mutations in Ptprq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
IGL01702:Ptprq	APN	10	107,353,727 (GRCm39)	missense	probably benign	0.00
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

2013-12-03