Mutagenetix > Incidental Mutations

Incidental Mutation 'R7579:Gprc6a'

586648

Institutional Source

Beutler Lab

Gene Symbol

Gprc6a

Ensembl Gene

ENSMUSG00000019905

Gene Name

G protein-coupled receptor, family C, group 6, member A

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_153071.1; MGI:2429498

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7579 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51614823-51631461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51626787 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 327 (A327T)

Ref Sequence

ENSEMBL: ENSMUSP00000020062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020062] [ENSMUST00000218684] [ENSMUST00000219286]

Predicted Effect

probably benign
Transcript: ENSMUST00000020062
AA Change: A327T

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

SMART Domains

Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: A327T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	73	482	2.3e-62	PFAM
Pfam:NCD3G	519	572	5.9e-18	PFAM
Pfam:7tm_3	600	838	2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218684

Predicted Effect

probably benign
Transcript: ENSMUST00000219286
AA Change: A327T

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

Meta Mutation Damage Score

0.1295

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (51/53)

MGI Phenotype

Strain: 3831176
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele show a metabolic syndrome characterized by impaired bone mineralization, increased fat mass, abnormal renal handling of calcium and phosphorus, fatty liver, glucose intolerance, testicular feminization and abnormal steroidogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	G	T	7: 119,693,710	R21L	probably benign	Het
Adgb	T	A	10: 10,410,818	R120*	probably null	Het
Adgra3	C	A	5: 49,987,635	A539S	probably benign	Het
Ank2	A	G	3: 126,946,398	S1946P	unknown	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cdc20b	A	T	13: 113,037,048		probably null	Het
Cfh	T	G	1: 140,108,590	D730A	possibly damaging	Het
Dennd1a	T	C	2: 37,858,432	H345R	probably damaging	Het
Dhx36	T	C	3: 62,480,873	S614G	possibly damaging	Het
Dio1	C	T	4: 107,292,386	V240I	possibly damaging	Het
Dnah12	A	G	14: 26,770,503	D1200G	probably benign	Het
Dpy19l4	A	T	4: 11,265,909	S680T	probably benign	Het
Eef2	CCC	CCCC	10: 81,178,768		probably null	Het
Fcrlb	T	C	1: 170,907,847		probably null	Het
Gad1	T	A	2: 70,587,132	I253K	possibly damaging	Het
Gars	A	G	6: 55,077,703	D665G	probably damaging	Het
Gldn	A	G	9: 54,338,364	T400A	probably benign	Het
Gm1110	C	A	9: 26,883,826	V455L	possibly damaging	Het
Gm11444	A	G	11: 85,850,243	V30A	unknown	Het
Gm5134	T	C	10: 75,964,437	S51P	probably damaging	Het
Gstt2	A	T	10: 75,834,185	D34E	probably benign	Het
Icam2	A	G	11: 106,380,763	F78L	probably damaging	Het
Jakmip1	T	G	5: 37,127,458	C630G	possibly damaging	Het
Kcnu1	A	T	8: 25,896,658	N523I	probably damaging	Het
Klf10	A	G	15: 38,297,038	S253P	probably benign	Het
Mmd2	A	T	5: 142,608,606	M1K	probably null	Het
Mroh2b	G	T	15: 4,931,061	G759C	probably benign	Het
Olfr1079	C	T	2: 86,538,528	C127Y	probably damaging	Het
Olfr1493-ps1	T	C	19: 13,727,101	L280P	probably damaging	Het
Olfr1535	A	T	13: 21,556,006	N5K	probably benign	Het
Orc5	A	G	5: 22,550,199	F22S	possibly damaging	Het
Prlr	A	G	15: 10,328,935	I499V	probably benign	Het
Ptbp1	A	G	10: 79,859,120	N94S	probably benign	Het
Rassf3	C	A	10: 121,476,198		probably benign	Het
Rbm33	C	T	5: 28,368,266	P455S	probably damaging	Het
Sgcd	C	G	11: 47,125,654	G127A	possibly damaging	Het
Slc22a13	A	G	9: 119,195,160	I336T	possibly damaging	Het
Slc25a31	A	T	3: 40,725,040	D312V	possibly damaging	Het
Slc37a4	G	A	9: 44,401,521	S324N	probably benign	Het
Slco1a5	A	G	6: 142,275,481	V13A	probably benign	Het
Srgap2	T	C	1: 131,292,633	H907R	probably damaging	Het
Supv3l1	C	A	10: 62,435,709	V381L	possibly damaging	Het
Supv3l1	A	C	10: 62,435,708	V381G	probably damaging	Het
Syne1	T	C	10: 5,349,324	D977G	probably damaging	Het
Syt3	T	A	7: 44,390,848	Y168*	probably null	Het
Tshz1	A	T	18: 84,014,665	Y539*	probably null	Het
Ttll13	A	G	7: 80,258,233	K501R	probably benign	Het
Ttn	G	A	2: 76,782,388	Q17116*	probably null	Het
Vcan	T	C	13: 89,692,458	T1656A	probably damaging	Het
Vmn1r73	G	T	7: 11,757,155	C300F	probably benign	Het
Vmn2r9	T	C	5: 108,845,082	K521E	probably damaging	Het
Zdhhc11	T	A	13: 73,982,766		probably benign	Het
Zfp760	T	C	17: 21,722,926	S361P	possibly damaging	Het
Zranb2	A	G	3: 157,540,672	Y114C	probably damaging	Het

Other mutations in Gprc6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Gprc6a	APN	10	51615430	missense	probably damaging	1.00
IGL01640:Gprc6a	APN	10	51627084	missense	probably damaging	0.99
IGL02122:Gprc6a	APN	10	51626723	missense	probably benign
IGL02317:Gprc6a	APN	10	51620953	missense	probably benign	0.01
IGL02995:Gprc6a	APN	10	51626799	missense	probably damaging	1.00
IGL03229:Gprc6a	APN	10	51616603	missense	probably damaging	1.00
IGL03256:Gprc6a	APN	10	51628349	missense	possibly damaging	0.77
IGL03290:Gprc6a	APN	10	51615872	missense	probably damaging	1.00
IGL03393:Gprc6a	APN	10	51615259	missense	probably damaging	1.00
R0040:Gprc6a	UTSW	10	51614984	nonsense	probably null
R0040:Gprc6a	UTSW	10	51614984	nonsense	probably null
R0050:Gprc6a	UTSW	10	51615389	missense	probably damaging	1.00
R0050:Gprc6a	UTSW	10	51615389	missense	probably damaging	1.00
R1495:Gprc6a	UTSW	10	51628437	missense	probably benign	0.01
R1831:Gprc6a	UTSW	10	51615806	missense	probably benign	0.22
R2108:Gprc6a	UTSW	10	51615208	missense	probably damaging	1.00
R2159:Gprc6a	UTSW	10	51615680	frame shift	probably null
R2160:Gprc6a	UTSW	10	51615680	frame shift	probably null
R2162:Gprc6a	UTSW	10	51615680	frame shift	probably null
R2229:Gprc6a	UTSW	10	51626795	missense	possibly damaging	0.50
R3009:Gprc6a	UTSW	10	51628296	missense	probably benign	0.02
R3709:Gprc6a	UTSW	10	51615680	frame shift	probably null
R3710:Gprc6a	UTSW	10	51615680	frame shift	probably null
R3737:Gprc6a	UTSW	10	51626911	missense	probably benign
R3914:Gprc6a	UTSW	10	51628275	missense	probably benign	0.00
R3918:Gprc6a	UTSW	10	51615680	frame shift	probably null
R3964:Gprc6a	UTSW	10	51615680	frame shift	probably null
R3965:Gprc6a	UTSW	10	51615680	frame shift	probably null
R3966:Gprc6a	UTSW	10	51615680	frame shift	probably null
R3973:Gprc6a	UTSW	10	51628448	missense	possibly damaging	0.93
R3977:Gprc6a	UTSW	10	51621101	missense	probably benign	0.18
R3978:Gprc6a	UTSW	10	51621101	missense	probably benign	0.18
R3979:Gprc6a	UTSW	10	51621101	missense	probably benign	0.18
R4306:Gprc6a	UTSW	10	51616639	missense	probably damaging	1.00
R4404:Gprc6a	UTSW	10	51628543	missense	probably benign	0.09
R4405:Gprc6a	UTSW	10	51628543	missense	probably benign	0.09
R4408:Gprc6a	UTSW	10	51628543	missense	probably benign	0.09
R4713:Gprc6a	UTSW	10	51631457	unclassified	probably benign
R4788:Gprc6a	UTSW	10	51615008	missense	probably benign	0.00
R5248:Gprc6a	UTSW	10	51614993	missense	probably damaging	1.00
R5263:Gprc6a	UTSW	10	51626804	missense	probably damaging	1.00
R5436:Gprc6a	UTSW	10	51626702	missense	probably benign
R5721:Gprc6a	UTSW	10	51614980	missense	probably benign	0.06
R6061:Gprc6a	UTSW	10	51615811	missense	probably damaging	1.00
R6092:Gprc6a	UTSW	10	51615077	missense	probably damaging	1.00
R6132:Gprc6a	UTSW	10	51615260	missense	possibly damaging	0.89
R6162:Gprc6a	UTSW	10	51614912	missense	probably benign	0.44
R6207:Gprc6a	UTSW	10	51626835	missense	probably benign	0.36
R6497:Gprc6a	UTSW	10	51615701	missense	probably benign	0.05
R6717:Gprc6a	UTSW	10	51615137	missense	probably damaging	1.00
R6789:Gprc6a	UTSW	10	51631316	missense	probably damaging	1.00
R6807:Gprc6a	UTSW	10	51626745	nonsense	probably null
R7000:Gprc6a	UTSW	10	51615047	missense	probably benign	0.34
R7019:Gprc6a	UTSW	10	51631412	missense	possibly damaging	0.68
R7143:Gprc6a	UTSW	10	51614890	missense	probably benign
R7173:Gprc6a	UTSW	10	51628499	missense	probably benign	0.01
R7736:Gprc6a	UTSW	10	51615453	missense	possibly damaging	0.82
R7920:Gprc6a	UTSW	10	51614930	missense	probably benign	0.02
R8273:Gprc6a	UTSW	10	51631274	missense	probably benign
R8329:Gprc6a	UTSW	10	51627259	nonsense	probably null
R8517:Gprc6a	UTSW	10	51631241	missense	probably benign	0.00
R8723:Gprc6a	UTSW	10	51615422	missense	probably damaging	1.00
R8815:Gprc6a	UTSW	10	51620983	missense	probably benign	0.00
Z1177:Gprc6a	UTSW	10	51615209	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCCAGAGGAAATCATTTCTCTTG -3'
(R):5'- GCAGAAGCCCAGGTTAATGTC -3'

Sequencing Primer
(F):5'- AGTGTCATAGGTCAAAGTTGCC -3'
(R):5'- CAGAAGCCCAGGTTAATGTCATTGTG -3'

Posted On

2019-10-24