Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02542:Ptprq'

297715

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: 0.246) question?

Stock #

IGL02542

Quality Score

Status

Chromosome

Chromosomal Location

107352910-107555912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107498416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 887 (Y887C)

Ref Sequence

ENSEMBL: ENSMUSP00000058572 (fasta)

Gene Model

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

AlphaFold

P0C5E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000050702
AA Change: Y887C

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

SMART Domains

Protein: ENSMUSP00000058572
Gene: ENSMUSG00000035916
AA Change: Y887C

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsa2	T	A	11: 23,440,559 (GRCm39)	T231S	possibly damaging	Het
Arfgef1	A	G	1: 10,243,067 (GRCm39)	L1091P	probably benign	Het
Arhgap32	A	T	9: 32,166,944 (GRCm39)	K527M	probably damaging	Het
Caap1	T	C	4: 94,438,742 (GRCm39)	N149S	probably benign	Het
Cc2d2a	A	G	5: 43,846,252 (GRCm39)		probably benign	Het
Cdk13	A	T	13: 17,902,763 (GRCm39)	I929K	probably damaging	Het
Fan1	A	G	7: 64,014,408 (GRCm39)	Y608H	probably damaging	Het
Foxj3	A	G	4: 119,477,540 (GRCm39)	N416S	unknown	Het
Gm20547	T	C	17: 35,076,236 (GRCm39)	S1151G	possibly damaging	Het
Ighv1-80	A	T	12: 115,876,199 (GRCm39)	I39N	probably damaging	Het
Igkv11-125	A	C	6: 67,890,991 (GRCm39)	E102A	probably damaging	Het
Mdc1	C	A	17: 36,164,048 (GRCm39)	P1199T	probably damaging	Het
Negr1	T	C	3: 156,267,862 (GRCm39)	S11P	probably damaging	Het
Oxsr1	T	C	9: 119,071,801 (GRCm39)	R477G	possibly damaging	Het
Pappa	T	A	4: 65,094,518 (GRCm39)	F514L	probably damaging	Het
Pde6c	G	T	19: 38,166,578 (GRCm39)	D707Y	probably damaging	Het
Phtf1	T	C	3: 103,901,222 (GRCm39)		probably benign	Het
Piezo2	T	A	18: 63,165,995 (GRCm39)	I2079F	probably damaging	Het
Ptprm	T	C	17: 67,227,145 (GRCm39)	D668G	probably benign	Het
Rax	T	C	18: 66,071,701 (GRCm39)	E62G	possibly damaging	Het
Rnf25	T	C	1: 74,633,260 (GRCm39)	E364G	probably benign	Het
Sipa1l3	A	T	7: 29,087,490 (GRCm39)	D578E	probably damaging	Het
Slc14a2	T	G	18: 78,252,302 (GRCm39)	D3A	probably benign	Het
Slc28a3	A	G	13: 58,721,284 (GRCm39)	Y294H	probably damaging	Het
Slit1	T	C	19: 41,615,687 (GRCm39)	T811A	probably damaging	Het
Sorcs2	T	C	5: 36,183,286 (GRCm39)	T996A	probably damaging	Het
Tmem132b	A	C	5: 125,699,558 (GRCm39)	Q73P	probably damaging	Het
Tnrc6b	T	A	15: 80,786,553 (GRCm39)	I1275N	possibly damaging	Het
Vasp	A	T	7: 18,998,705 (GRCm39)	D17E	probably damaging	Het
Wdr19	A	G	5: 65,388,414 (GRCm39)	T700A	probably benign	Het
Ythdc2	T	G	18: 44,973,308 (GRCm39)	L315W	probably damaging	Het
Zfp385c	A	G	11: 100,520,742 (GRCm39)	V306A	probably 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
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
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
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

2015-04-16