Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01673:Gpr63'

103559

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpr63

Ensembl Gene

ENSMUSG00000040372

Gene Name

G protein-coupled receptor 63

Synonyms

PSP24beta

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01673

Quality Score

Status

Chromosome

Chromosomal Location

24966407-25009233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25008014 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 246 (Q246L)

Ref Sequence

ENSEMBL: ENSMUSP00000039312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038920]

Predicted Effect

probably benign
Transcript: ENSMUST00000038920
AA Change: Q246L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000039312
Gene: ENSMUSG00000040372
AA Change: Q246L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	98	392	1.3e-8	PFAM
Pfam:7tm_1	104	377	1.9e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151006

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cpz	A	T	5: 35,512,547	V262E	probably benign	Het
Cyp4f14	A	G	17: 32,911,151		probably null	Het
Ddx46	G	T	13: 55,653,048	V339F	probably damaging	Het
Gpn1	T	G	5: 31,494,835	C21W	probably damaging	Het
Hsp90b1	T	A	10: 86,693,432	M658L	probably damaging	Het
Immp2l	T	C	12: 41,068,321	S4P	probably benign	Het
Krtap9-5	A	T	11: 99,949,551	*359C	probably null	Het
Lgals7	A	G	7: 28,866,196		probably benign	Het
Mak	G	T	13: 41,048,223		probably null	Het
Mrps18c	A	G	5: 100,798,806	R13G	possibly damaging	Het
Myo7a	A	G	7: 98,054,708	V1946A	probably benign	Het
Nfyc	T	C	4: 120,779,110		probably benign	Het
Nkx2-4	C	T	2: 147,083,914	V343M	possibly damaging	Het
Olfr1105	T	C	2: 87,033,387	Y278C	probably damaging	Het
Olfr924	T	C	9: 38,849,020	V302A	probably benign	Het
Rapgef4	G	T	2: 72,241,437	S743I	probably damaging	Het
Tcf7	A	G	11: 52,256,996	C210R	probably damaging	Het
Ubqln3	T	A	7: 104,142,398	I162F	probably benign	Het
Vmn1r216	A	G	13: 23,099,471	Q108R	probably damaging	Het
Vmn1r74	A	T	7: 11,847,390	I206F	possibly damaging	Het
Wdr64	T	C	1: 175,800,356	I872T	possibly damaging	Het

Other mutations in Gpr63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Gpr63	APN	4	25008445	missense	possibly damaging	0.78
IGL01861:Gpr63	APN	4	25008545	missense	probably damaging	0.98
IGL02082:Gpr63	APN	4	25008564	utr 3 prime	probably benign
R0003:Gpr63	UTSW	4	25007651	missense	probably damaging	1.00
R0554:Gpr63	UTSW	4	25007447	missense	probably benign
R0729:Gpr63	UTSW	4	25007480	missense	probably benign	0.02
R1506:Gpr63	UTSW	4	25008227	missense	probably damaging	1.00
R3103:Gpr63	UTSW	4	25007353	missense	probably benign	0.00
R3694:Gpr63	UTSW	4	25007993	missense	probably damaging	1.00
R4021:Gpr63	UTSW	4	25008470	missense	possibly damaging	0.77
R4807:Gpr63	UTSW	4	25007446	missense	probably benign
R4967:Gpr63	UTSW	4	25008368	nonsense	probably null
R5047:Gpr63	UTSW	4	25008202	missense	probably benign	0.44
R5325:Gpr63	UTSW	4	25007294	missense	probably benign	0.00
R5382:Gpr63	UTSW	4	25007952	missense	probably benign
R7047:Gpr63	UTSW	4	25007320	missense	probably benign	0.00
R7216:Gpr63	UTSW	4	25008038	missense	probably damaging	1.00
R8317:Gpr63	UTSW	4	25008223	missense	probably damaging	1.00
R8387:Gpr63	UTSW	4	25008301	missense	possibly damaging	0.64

Posted On

2014-01-21