Mutagenetix > Incidental Mutations

Incidental Mutation 'R7047:Gpr63'

547362

Institutional Source

Beutler Lab

Gene Symbol

Gpr63

Ensembl Gene

ENSMUSG00000040372

Gene Name

G protein-coupled receptor 63

Synonyms

PSP24beta

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24966407-25009233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25007320 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 15 (A15S)

Ref Sequence

ENSEMBL: ENSMUSP00000039312 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038920
AA Change: A15S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000039312
Gene: ENSMUSG00000040372
AA Change: A15S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,660,174	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,267,215	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,326,311	I95V	probably damaging	Het
Anapc1	A	C	2: 128,615,430	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,851,945		probably null	Het
Capn11	G	T	17: 45,638,696	S448*	probably null	Het
Capn7	C	T	14: 31,336,685		probably benign	Het
Cep55	T	A	19: 38,060,091	V65D	possibly damaging	Het
Col5a1	A	G	2: 27,928,084	K107R	unknown	Het
Dbh	T	A	2: 27,165,610	I32N	possibly damaging	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,982,126	N13K	probably benign	Het
Emilin1	A	G	5: 30,917,078	N221S	probably benign	Het
Ext2	A	G	2: 93,739,657	F470L	probably damaging	Het
Fam71f1	T	A	6: 29,323,810	L178H	probably damaging	Het
Filip1	T	A	9: 79,853,634	Q206L	probably damaging	Het
Grhl3	T	C	4: 135,549,240		probably null	Het
Hspa5	C	T	2: 34,773,192	P127L	probably damaging	Het
Ift172	G	T	5: 31,275,894	Y193*	probably null	Het
Ints1	A	C	5: 139,758,471	L1512*	probably null	Het
Kat2b	A	G	17: 53,663,569	Q661R	probably benign	Het
Kat6a	A	G	8: 22,938,538	N1303S	possibly damaging	Het
L3mbtl4	G	T	17: 68,461,566	R223L	probably benign	Het
Maml2	T	C	9: 13,620,881		probably benign	Het
Mixl1	A	G	1: 180,696,618		probably null	Het
Mocs1	T	C	17: 49,452,859		probably null	Het
Ms4a15	T	G	19: 10,984,872	N36T	probably damaging	Het
Msr1	G	A	8: 39,642,616	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,436,035	Y509*	probably null	Het
Nsmce1	C	A	7: 125,491,434	G4C	probably benign	Het
Olfr1218	A	T	2: 89,055,146	F93L	probably damaging	Het
Olfr621-ps1	A	G	7: 103,629,711	V83A	probably damaging	Het
Pan3	G	A	5: 147,546,365	G452D	probably damaging	Het
Pcyox1	G	T	6: 86,388,909	P441H	probably damaging	Het
Phf12	T	C	11: 78,013,273	V273A	probably damaging	Het
Plcd4	A	G	1: 74,551,989	E181G	possibly damaging	Het
Ptgfr	A	T	3: 151,835,541	I110N	possibly damaging	Het
Rab40c	A	C	17: 25,919,484	V8G	probably damaging	Het
Rasal3	T	A	17: 32,396,484	Y460F	probably damaging	Het
Rhbdf2	A	G	11: 116,603,651		probably null	Het
Ryr2	T	A	13: 11,824,400	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,213,002	I4166F	probably damaging	Het
Sh2d3c	T	C	2: 32,721,160	M1T	probably null	Het
Smarca2	C	T	19: 26,669,155	S651L	possibly damaging	Het
Sned1	A	T	1: 93,285,818	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,712,435	Y41H	probably damaging	Het
Stab2	C	T	10: 86,858,152	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,533,368	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,086,240	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,670,112	T116S	probably benign	Het
Tnfrsf19	A	T	14: 61,005,218	C72*	probably null	Het
Usp17le	T	A	7: 104,768,433	T501S	probably benign	Het
Wnt5b	T	A	6: 119,448,256		probably benign	Het

Other mutations in Gpr63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Gpr63	APN	4	25008445	missense	possibly damaging	0.78
IGL01673:Gpr63	APN	4	25008014	missense	probably benign	0.04
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
R7216:Gpr63	UTSW	4	25008038	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGCTGTGTCCATTTTCC -3'
(R):5'- CTGAAAGGATAATCTGAACCGC -3'

Sequencing Primer
(F):5'- TCCAGAATGTGTATCCGAGC -3'
(R):5'- AGGCTCTTAAAAACTGCTGGTGC -3'

Posted On

2019-05-13