Mutagenetix > Incidental Mutations

Incidental Mutation 'R5891:Ptprq'

457199

Institutional Source

Beutler Lab

Gene Symbol

Ptprq

Ensembl Gene

ENSMUSG00000035916

Gene Name

protein tyrosine phosphatase, receptor type, Q

Synonyms

MMRRC Submission

044092-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R5891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107517049-107720051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107576895 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1781 (D1781V)

Ref Sequence

ENSEMBL: ENSMUSP00000058572 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050702
AA Change: D1781V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058572
Gene: ENSMUSG00000035916
AA Change: D1781V

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

Meta Mutation Damage Score

0.1608

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,188,589	I828V	probably benign	Het
A430105I19Rik	T	A	2: 118,761,383	D92V	probably damaging	Het
Abi3bp	A	T	16: 56,606,133	T504S	probably damaging	Het
Adamtsl4	C	A	3: 95,682,313	R387L	possibly damaging	Het
Adgb	G	A	10: 10,377,847	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,334,863	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,347,977	Y164N	probably benign	Het
Atf7ip	A	T	6: 136,559,977	E69D	possibly damaging	Het
Atm	T	C	9: 53,497,159	T1129A	probably benign	Het
AU021092	T	C	16: 5,212,131	D340G	probably benign	Het
Baz2a	T	A	10: 128,121,322	I978N	probably damaging	Het
BC034090	T	C	1: 155,233,047		probably benign	Het
Bcl9	A	G	3: 97,208,888	L830P	probably damaging	Het
Bicral	T	C	17: 46,801,229	N1015S	probably benign	Het
Ceacam3	C	A	7: 17,151,793	T107N	probably damaging	Het
Cep83	T	C	10: 94,725,675	V109A	probably benign	Het
Ces1e	A	G	8: 93,203,266	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,247,134	V55A	probably benign	Het
Col19a1	T	C	1: 24,289,725	E900G	probably damaging	Het
Commd3	A	G	2: 18,673,815		probably benign	Het
Coro1c	A	G	5: 113,850,811	I157T	probably damaging	Het
Ctso	T	A	3: 81,954,254	F311L	probably benign	Het
Cxcl10	A	G	5: 92,348,224		probably benign	Het
Daam1	C	A	12: 71,944,149	T179N	unknown	Het
Ddx24	T	C	12: 103,424,058	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,775,392	T278A	probably benign	Het
Dnajc2	A	T	5: 21,761,711	N345K	possibly damaging	Het
Dnpep	G	T	1: 75,311,812	Q395K	probably benign	Het
Dync1h1	T	C	12: 110,614,220		probably null	Het
Exoc1	A	G	5: 76,542,144	D177G	probably damaging	Het
Fam135b	C	T	15: 71,525,803	R136H	probably damaging	Het
Fam214a	C	G	9: 75,004,386	C46W	probably damaging	Het
Filip1	T	G	9: 79,819,860	L492F	possibly damaging	Het
Flvcr2	A	T	12: 85,796,228	I359F	possibly damaging	Het
Gmcl1	A	G	6: 86,707,443	W366R	probably damaging	Het
Htt	A	G	5: 34,870,823	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,597,629	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,360,690	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,425		probably benign	Het
Kif13b	T	G	14: 64,788,405		probably null	Het
Klkb1	T	A	8: 45,270,666	T571S	probably benign	Het
Mapkbp1	G	T	2: 120,023,932	E1337*	probably null	Het
Met	A	G	6: 17,491,539	D100G	probably benign	Het
Mgam	T	A	6: 40,744,348	D183E	probably benign	Het
Mrgprb13	T	C	7: 48,312,259		noncoding transcript	Het
Mrgprx2	T	C	7: 48,482,246	T275A	probably benign	Het
Mroh2a	C	A	1: 88,241,615	Q671K	possibly damaging	Het
Nckipsd	T	A	9: 108,808,609	S42R	probably damaging	Het
Nlrp12	T	A	7: 3,219,259		probably benign	Het
Olfr1297	A	T	2: 111,621,433	L214M	probably damaging	Het
Olfr361	T	A	2: 37,084,978	M257L	probably benign	Het
Olfr467	C	T	7: 107,815,180	P199S	probably damaging	Het
Olfr527	C	T	7: 140,336,600	T246I	probably benign	Het
Otoa	T	A	7: 121,132,360		probably null	Het
Pfkm	T	A	15: 98,122,690	C233*	probably null	Het
Pikfyve	A	G	1: 65,202,737	Y212C	probably damaging	Het
Pttg1ip	A	G	10: 77,582,440		probably benign	Het
Rab6a	T	A	7: 100,639,247		probably null	Het
Rbm11	C	T	16: 75,598,837	A132V	possibly damaging	Het
Sept4	G	T	11: 87,588,924		probably benign	Het
Serpinb8	A	G	1: 107,605,845	E210G	probably damaging	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Slco5a1	A	G	1: 12,990,402	F32L	probably benign	Het
Smad2	A	G	18: 76,299,975	E326G	probably damaging	Het
Sp9	T	A	2: 73,274,251	L383Q	probably damaging	Het
Stx11	T	C	10: 12,941,815	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,220,308	Q253L	probably benign	Het
Tcf7l1	T	A	6: 72,637,051		probably benign	Het
Tdrd9	T	A	12: 112,042,719	S1020T	probably damaging	Het
Tead3	A	T	17: 28,341,365	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,815,171	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,671,022	D268E	probably damaging	Het
Ttn	A	G	2: 76,745,741	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,408,626	Y908*	probably null	Het
Urb2	G	T	8: 124,030,856	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,084,900	H188L	probably benign	Het
Zfp518a	T	A	19: 40,912,433	C269S	probably damaging	Het
Zfp933	T	C	4: 147,826,774	K90E	probably benign	Het

Other mutations in Ptprq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ptprq	APN	10	107576929	missense	probably damaging	0.98
IGL00537:Ptprq	APN	10	107710522	missense	probably benign	0.07
IGL00547:Ptprq	APN	10	107718541	missense	probably damaging	0.99
IGL00586:Ptprq	APN	10	107608122	splice site	probably benign
IGL00648:Ptprq	APN	10	107646716	missense	probably benign	0.10
IGL01123:Ptprq	APN	10	107686218	missense	probably damaging	0.96
IGL01343:Ptprq	APN	10	107638839	missense	probably damaging	0.96
IGL01348:Ptprq	APN	10	107711904	missense	probably damaging	1.00
IGL01433:Ptprq	APN	10	107576880	missense	probably damaging	0.99
IGL01510:Ptprq	APN	10	107712048	missense	probably damaging	1.00
IGL01535:Ptprq	APN	10	107699596	missense	probably benign
IGL01631:Ptprq	APN	10	107643538	missense	probably benign	0.00
IGL01633:Ptprq	APN	10	107699723	splice site	probably benign
IGL01702:Ptprq	APN	10	107517866	missense	probably benign	0.00
IGL01733:Ptprq	APN	10	107662599	missense	probably benign	0.10
IGL01806:Ptprq	APN	10	107699608	missense	probably damaging	1.00
IGL01832:Ptprq	APN	10	107565839	critical splice donor site	probably null
IGL01961:Ptprq	APN	10	107643654	missense	probably damaging	1.00
IGL02108:Ptprq	APN	10	107646617	missense	probably damaging	1.00
IGL02120:Ptprq	APN	10	107667472	missense	probably damaging	1.00
IGL02160:Ptprq	APN	10	107653565	missense	probably benign	0.00
IGL02178:Ptprq	APN	10	107686319	missense	probably benign	0.03
IGL02249:Ptprq	APN	10	107582359	missense	probably damaging	1.00
IGL02267:Ptprq	APN	10	107646558	missense	probably damaging	1.00
IGL02527:Ptprq	APN	10	107686563	missense	probably benign	0.04
IGL02529:Ptprq	APN	10	107635365	missense	probably benign	0.03
IGL02542:Ptprq	APN	10	107662555	missense	probably damaging	1.00
IGL02582:Ptprq	APN	10	107643999	missense	probably benign	0.00
IGL02708:Ptprq	APN	10	107652700	missense	probably damaging	1.00
IGL02894:Ptprq	APN	10	107667424	missense	probably benign
IGL02903:Ptprq	APN	10	107666586	missense	possibly damaging	0.51
IGL02951:Ptprq	APN	10	107667460	missense	probably benign	0.03
IGL02982:Ptprq	APN	10	107586684	missense	probably damaging	1.00
IGL03000:Ptprq	APN	10	107542657	missense	probably damaging	1.00
IGL03024:Ptprq	APN	10	107685566	missense	possibly damaging	0.69
IGL03240:Ptprq	APN	10	107688507	missense	probably benign
P0043:Ptprq	UTSW	10	107580225	missense	probably benign	0.03
PIT4812001:Ptprq	UTSW	10	107666567	missense	probably damaging	1.00
R0200:Ptprq	UTSW	10	107685157	missense	probably benign
R0268:Ptprq	UTSW	10	107705548	missense	probably benign
R0276:Ptprq	UTSW	10	107542735	critical splice acceptor site	probably null
R0279:Ptprq	UTSW	10	107608417	missense	probably damaging	0.96
R0335:Ptprq	UTSW	10	107708728	missense	probably benign
R0344:Ptprq	UTSW	10	107705582	missense	probably benign
R0357:Ptprq	UTSW	10	107686199	splice site	probably benign
R0454:Ptprq	UTSW	10	107582530	nonsense	probably null
R0479:Ptprq	UTSW	10	107643994	nonsense	probably null
R0491:Ptprq	UTSW	10	107608175	missense	probably damaging	0.98
R0519:Ptprq	UTSW	10	107538920	splice site	probably benign
R0523:Ptprq	UTSW	10	107580220	missense	possibly damaging	0.54
R0553:Ptprq	UTSW	10	107710627	missense	probably benign	0.33
R0746:Ptprq	UTSW	10	107517831	missense	probably damaging	1.00
R0755:Ptprq	UTSW	10	107582539	missense	probably benign	0.09
R1434:Ptprq	UTSW	10	107586714	missense	probably damaging	1.00
R1445:Ptprq	UTSW	10	107662562	missense	probably damaging	1.00
R1470:Ptprq	UTSW	10	107718574	missense	probably damaging	0.97
R1470:Ptprq	UTSW	10	107718574	missense	probably damaging	0.97
R1558:Ptprq	UTSW	10	107644043	missense	probably damaging	1.00
R1567:Ptprq	UTSW	10	107565887	missense	probably benign	0.13
R1711:Ptprq	UTSW	10	107534699	nonsense	probably null
R1720:Ptprq	UTSW	10	107686294	missense	probably damaging	1.00
R1746:Ptprq	UTSW	10	107638830	missense	probably damaging	1.00
R1776:Ptprq	UTSW	10	107685089	missense	probably damaging	1.00
R1822:Ptprq	UTSW	10	107718478	missense	probably damaging	1.00
R1872:Ptprq	UTSW	10	107643999	missense	probably benign	0.19
R1944:Ptprq	UTSW	10	107582388	missense	probably benign	0.23
R1945:Ptprq	UTSW	10	107582388	missense	probably benign	0.23
R2006:Ptprq	UTSW	10	107666546	missense	probably damaging	1.00
R2014:Ptprq	UTSW	10	107667422	missense	probably damaging	0.96
R2015:Ptprq	UTSW	10	107667422	missense	probably damaging	0.96
R2097:Ptprq	UTSW	10	107653493	missense	probably benign	0.05
R2172:Ptprq	UTSW	10	107590994	nonsense	probably null
R2174:Ptprq	UTSW	10	107705553	missense	probably damaging	1.00
R2248:Ptprq	UTSW	10	107643070	splice site	probably null
R2404:Ptprq	UTSW	10	107686599	missense	probably damaging	1.00
R3423:Ptprq	UTSW	10	107582476	missense	probably damaging	0.99
R3683:Ptprq	UTSW	10	107708628	missense	probably benign	0.01
R3875:Ptprq	UTSW	10	107685104	missense	possibly damaging	0.88
R3945:Ptprq	UTSW	10	107686392	splice site	probably benign
R3946:Ptprq	UTSW	10	107686392	splice site	probably benign
R3974:Ptprq	UTSW	10	107712062	missense	possibly damaging	0.88
R3982:Ptprq	UTSW	10	107543396	missense	probably damaging	0.99
R4105:Ptprq	UTSW	10	107572967	missense	probably damaging	1.00
R4118:Ptprq	UTSW	10	107711920	missense	probably benign	0.37
R4175:Ptprq	UTSW	10	107711917	missense	probably benign
R4231:Ptprq	UTSW	10	107686283	nonsense	probably null
R4356:Ptprq	UTSW	10	107608364	missense	probably damaging	0.99
R4435:Ptprq	UTSW	10	107685055	missense	possibly damaging	0.89
R4678:Ptprq	UTSW	10	107685182	missense	probably benign	0.19
R4679:Ptprq	UTSW	10	107685182	missense	probably benign	0.19
R4745:Ptprq	UTSW	10	107524253	missense	probably damaging	1.00
R4771:Ptprq	UTSW	10	107688427	missense	probably benign
R4778:Ptprq	UTSW	10	107591022	missense	probably benign	0.15
R4808:Ptprq	UTSW	10	107718507	missense	probably damaging	1.00
R4809:Ptprq	UTSW	10	107563175	missense	probably damaging	1.00
R4818:Ptprq	UTSW	10	107710581	missense	possibly damaging	0.86
R4845:Ptprq	UTSW	10	107653532	missense	probably benign	0.00
R4901:Ptprq	UTSW	10	107688414	missense	probably benign	0.01
R4942:Ptprq	UTSW	10	107688429	missense	probably benign	0.01
R4946:Ptprq	UTSW	10	107525734	missense	probably benign
R4959:Ptprq	UTSW	10	107686555	missense	probably damaging	1.00
R4973:Ptprq	UTSW	10	107686555	missense	probably damaging	1.00
R5007:Ptprq	UTSW	10	107608276	missense	probably benign	0.00
R5053:Ptprq	UTSW	10	107563202	missense	probably damaging	1.00
R5055:Ptprq	UTSW	10	107534679	missense	probably benign	0.37
R5090:Ptprq	UTSW	10	107526089	missense	probably damaging	1.00
R5158:Ptprq	UTSW	10	107534704	missense	probably damaging	1.00
R5163:Ptprq	UTSW	10	107524331	missense	probably damaging	1.00
R5222:Ptprq	UTSW	10	107662564	missense	probably damaging	0.96
R5244:Ptprq	UTSW	10	107586695	missense	possibly damaging	0.62
R5249:Ptprq	UTSW	10	107699635	missense	probably damaging	0.99
R5503:Ptprq	UTSW	10	107688328	splice site	probably null
R5508:Ptprq	UTSW	10	107686231	missense	probably benign	0.00
R5601:Ptprq	UTSW	10	107608430	missense	probably benign
R5722:Ptprq	UTSW	10	107686365	missense	possibly damaging	0.72
R5819:Ptprq	UTSW	10	107719883	start gained	probably benign
R5862:Ptprq	UTSW	10	107565878	missense	probably benign	0.02
R5916:Ptprq	UTSW	10	107523513	missense	probably damaging	1.00
R6054:Ptprq	UTSW	10	107582358	missense	probably damaging	1.00
R6058:Ptprq	UTSW	10	107635274	missense	probably benign	0.00
R6075:Ptprq	UTSW	10	107525760	missense	probably damaging	1.00
R6101:Ptprq	UTSW	10	107580266	missense	possibly damaging	0.93
R6189:Ptprq	UTSW	10	107517887	missense	probably damaging	1.00
R6235:Ptprq	UTSW	10	107635338	missense	possibly damaging	0.61
R6351:Ptprq	UTSW	10	107708668	missense	probably damaging	0.99
R6394:Ptprq	UTSW	10	107642943	nonsense	probably null
R6449:Ptprq	UTSW	10	107705583	missense	probably benign	0.00
R6526:Ptprq	UTSW	10	107542653	nonsense	probably null
R6544:Ptprq	UTSW	10	107608241	missense	probably damaging	1.00
R6609:Ptprq	UTSW	10	107572968	missense	probably damaging	0.99
R6862:Ptprq	UTSW	10	107686225	missense	probably damaging	0.96
R6874:Ptprq	UTSW	10	107718599	missense	possibly damaging	0.80
R6892:Ptprq	UTSW	10	107576004	missense	probably benign	0.00
R7082:Ptprq	UTSW	10	107708730	missense	probably benign	0.10
R7210:Ptprq	UTSW	10	107685171	missense	probably damaging	1.00
R7253:Ptprq	UTSW	10	107608273	missense	probably benign	0.30
R7293:Ptprq	UTSW	10	107635506	nonsense	probably null
R7445:Ptprq	UTSW	10	107590959	missense	probably damaging	1.00
R7632:Ptprq	UTSW	10	107711922	missense	probably benign	0.32
R7685:Ptprq	UTSW	10	107643978	missense	probably damaging	1.00
R7703:Ptprq	UTSW	10	107644146	missense	probably benign	0.01
R7774:Ptprq	UTSW	10	107643669	missense	probably damaging	0.96
R7897:Ptprq	UTSW	10	107710623	missense	probably benign	0.21
R7936:Ptprq	UTSW	10	107652711	missense	probably damaging	1.00
R7983:Ptprq	UTSW	10	107608411	nonsense	probably null
R8023:Ptprq	UTSW	10	107652616	nonsense	probably null
R8071:Ptprq	UTSW	10	107644035	missense	possibly damaging	0.62
R8084:Ptprq	UTSW	10	107608433	missense	probably benign
R8086:Ptprq	UTSW	10	107646639	nonsense	probably null
R8169:Ptprq	UTSW	10	107582490	missense	probably damaging	1.00
R8223:Ptprq	UTSW	10	107699638	missense	probably benign	0.00
R8235:Ptprq	UTSW	10	107582541	missense	probably damaging	1.00
R8235:Ptprq	UTSW	10	107705490	missense	probably benign	0.32
R8278:Ptprq	UTSW	10	107686378	missense	possibly damaging	0.87
Z1088:Ptprq	UTSW	10	107699672	missense	possibly damaging	0.56
Z1176:Ptprq	UTSW	10	107526070	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGATCACATATCTTGATAGGCC -3'
(R):5'- CTGTTACCCACATGAAATATGACTC -3'

Sequencing Primer
(F):5'- TGATAGGCCTTTCTTCACTTGAC -3'
(R):5'- TACCCACATGAAATATGACTCTGAAC -3'

Posted On

2017-02-15