Mutagenetix > Incidental Mutation

Incidental Mutation 'R4306:Gprc6a'

324036

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

041092-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51490919-51507554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51492735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 539 (H539R)

Ref Sequence

ENSEMBL: ENSMUSP00000020062 (fasta)

Gene Model

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

AlphaFold

Q8K4Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000020062
AA Change: H539R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: H539R

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 damaging
Transcript: ENSMUST00000218684
AA Change: H364R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219286
AA Change: H468R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1521

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (33/34)

MGI Phenotype

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 12,042,300 (GRCm39)	S440*	probably null	Het
Chrdl2	A	G	7: 99,671,229 (GRCm39)	T116A	probably damaging	Het
Chst12	T	C	5: 140,510,401 (GRCm39)	F343L	probably damaging	Het
Cpeb2	T	A	5: 43,392,578 (GRCm39)		probably benign	Het
Cyp27b1	A	G	10: 126,886,957 (GRCm39)	D391G	probably benign	Het
Dll3	T	C	7: 28,001,082 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,260,932 (GRCm39)	I2030N	probably damaging	Het
Fap	C	T	2: 62,361,051 (GRCm39)		probably null	Het
Frmd4a	C	T	2: 4,337,889 (GRCm39)	R32C	probably benign	Het
Fzd7	T	C	1: 59,523,566 (GRCm39)	V483A	probably damaging	Het
Gpm6a	T	C	8: 55,500,428 (GRCm39)		probably null	Het
Irs1	C	T	1: 82,265,685 (GRCm39)	A844T	probably benign	Het
Myo1a	T	G	10: 127,549,950 (GRCm39)	S477A	probably benign	Het
Naga	C	T	15: 82,221,095 (GRCm39)	W67*	probably null	Het
Or51ah3	G	C	7: 103,210,380 (GRCm39)	R232T	possibly damaging	Het
Or51ah3	A	T	7: 103,210,379 (GRCm39)	R232*	probably null	Het
Osbpl1a	T	C	18: 12,952,652 (GRCm39)	E87G	probably benign	Het
Prr27	A	G	5: 87,990,766 (GRCm39)	H126R	probably benign	Het
Rb1	G	A	14: 73,500,135 (GRCm39)	T504I	probably damaging	Het
Rnf144b	A	G	13: 47,396,418 (GRCm39)	N252D	probably damaging	Het
Slit2	T	A	5: 48,460,125 (GRCm39)	N1385K	possibly damaging	Het
Spaca7b	T	A	8: 11,728,590 (GRCm39)	N27I	probably damaging	Het
Tas2r124	A	G	6: 132,731,954 (GRCm39)	I88V	probably benign	Het
Trip11	A	G	12: 101,853,198 (GRCm39)	F465L	probably benign	Het
Usp31	G	A	7: 121,306,152 (GRCm39)	P109S	possibly damaging	Het
Vmn2r12	A	G	5: 109,233,872 (GRCm39)	L780P	probably damaging	Het
Vmn2r71	G	T	7: 85,273,360 (GRCm39)	D725Y	probably damaging	Het
Zfp459	T	C	13: 67,561,307 (GRCm39)	K47R	probably damaging	Het

Other mutations in Gprc6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Gprc6a	APN	10	51,491,526 (GRCm39)	missense	probably damaging	1.00
IGL01640:Gprc6a	APN	10	51,503,180 (GRCm39)	missense	probably damaging	0.99
IGL02122:Gprc6a	APN	10	51,502,819 (GRCm39)	missense	probably benign
IGL02317:Gprc6a	APN	10	51,497,049 (GRCm39)	missense	probably benign	0.01
IGL02995:Gprc6a	APN	10	51,502,895 (GRCm39)	missense	probably damaging	1.00
IGL03229:Gprc6a	APN	10	51,492,699 (GRCm39)	missense	probably damaging	1.00
IGL03256:Gprc6a	APN	10	51,504,445 (GRCm39)	missense	possibly damaging	0.77
IGL03290:Gprc6a	APN	10	51,491,968 (GRCm39)	missense	probably damaging	1.00
IGL03393:Gprc6a	APN	10	51,491,355 (GRCm39)	missense	probably damaging	1.00
R0040:Gprc6a	UTSW	10	51,491,080 (GRCm39)	nonsense	probably null
R0040:Gprc6a	UTSW	10	51,491,080 (GRCm39)	nonsense	probably null
R0050:Gprc6a	UTSW	10	51,491,485 (GRCm39)	missense	probably damaging	1.00
R0050:Gprc6a	UTSW	10	51,491,485 (GRCm39)	missense	probably damaging	1.00
R1495:Gprc6a	UTSW	10	51,504,533 (GRCm39)	missense	probably benign	0.01
R1831:Gprc6a	UTSW	10	51,491,902 (GRCm39)	missense	probably benign	0.22
R2108:Gprc6a	UTSW	10	51,491,304 (GRCm39)	missense	probably damaging	1.00
R2159:Gprc6a	UTSW	10	51,491,776 (GRCm39)	frame shift	probably null
R2160:Gprc6a	UTSW	10	51,491,776 (GRCm39)	frame shift	probably null
R2162:Gprc6a	UTSW	10	51,491,776 (GRCm39)	frame shift	probably null
R2229:Gprc6a	UTSW	10	51,502,891 (GRCm39)	missense	possibly damaging	0.50
R3009:Gprc6a	UTSW	10	51,504,392 (GRCm39)	missense	probably benign	0.02
R3709:Gprc6a	UTSW	10	51,491,776 (GRCm39)	frame shift	probably null
R3710:Gprc6a	UTSW	10	51,491,776 (GRCm39)	frame shift	probably null
R3737:Gprc6a	UTSW	10	51,503,007 (GRCm39)	missense	probably benign
R3914:Gprc6a	UTSW	10	51,504,371 (GRCm39)	missense	probably benign	0.00
R3918:Gprc6a	UTSW	10	51,491,776 (GRCm39)	frame shift	probably null
R3964:Gprc6a	UTSW	10	51,491,776 (GRCm39)	frame shift	probably null
R3965:Gprc6a	UTSW	10	51,491,776 (GRCm39)	frame shift	probably null
R3966:Gprc6a	UTSW	10	51,491,776 (GRCm39)	frame shift	probably null
R3973:Gprc6a	UTSW	10	51,504,544 (GRCm39)	missense	possibly damaging	0.93
R3977:Gprc6a	UTSW	10	51,497,197 (GRCm39)	missense	probably benign	0.18
R3978:Gprc6a	UTSW	10	51,497,197 (GRCm39)	missense	probably benign	0.18
R3979:Gprc6a	UTSW	10	51,497,197 (GRCm39)	missense	probably benign	0.18
R4404:Gprc6a	UTSW	10	51,504,639 (GRCm39)	missense	probably benign	0.09
R4405:Gprc6a	UTSW	10	51,504,639 (GRCm39)	missense	probably benign	0.09
R4408:Gprc6a	UTSW	10	51,504,639 (GRCm39)	missense	probably benign	0.09
R4713:Gprc6a	UTSW	10	51,507,553 (GRCm39)	unclassified	probably benign
R4788:Gprc6a	UTSW	10	51,491,104 (GRCm39)	missense	probably benign	0.00
R5248:Gprc6a	UTSW	10	51,491,089 (GRCm39)	missense	probably damaging	1.00
R5263:Gprc6a	UTSW	10	51,502,900 (GRCm39)	missense	probably damaging	1.00
R5436:Gprc6a	UTSW	10	51,502,798 (GRCm39)	missense	probably benign
R5721:Gprc6a	UTSW	10	51,491,076 (GRCm39)	missense	probably benign	0.06
R6061:Gprc6a	UTSW	10	51,491,907 (GRCm39)	missense	probably damaging	1.00
R6092:Gprc6a	UTSW	10	51,491,173 (GRCm39)	missense	probably damaging	1.00
R6132:Gprc6a	UTSW	10	51,491,356 (GRCm39)	missense	possibly damaging	0.89
R6162:Gprc6a	UTSW	10	51,491,008 (GRCm39)	missense	probably benign	0.44
R6207:Gprc6a	UTSW	10	51,502,931 (GRCm39)	missense	probably benign	0.36
R6497:Gprc6a	UTSW	10	51,491,797 (GRCm39)	missense	probably benign	0.05
R6717:Gprc6a	UTSW	10	51,491,233 (GRCm39)	missense	probably damaging	1.00
R6789:Gprc6a	UTSW	10	51,507,412 (GRCm39)	missense	probably damaging	1.00
R6807:Gprc6a	UTSW	10	51,502,841 (GRCm39)	nonsense	probably null
R7000:Gprc6a	UTSW	10	51,491,143 (GRCm39)	missense	probably benign	0.34
R7019:Gprc6a	UTSW	10	51,507,508 (GRCm39)	missense	possibly damaging	0.68
R7143:Gprc6a	UTSW	10	51,490,986 (GRCm39)	missense	probably benign
R7173:Gprc6a	UTSW	10	51,504,595 (GRCm39)	missense	probably benign	0.01
R7579:Gprc6a	UTSW	10	51,502,883 (GRCm39)	missense	probably benign
R7736:Gprc6a	UTSW	10	51,491,549 (GRCm39)	missense	possibly damaging	0.82
R7920:Gprc6a	UTSW	10	51,491,026 (GRCm39)	missense	probably benign	0.02
R8273:Gprc6a	UTSW	10	51,507,370 (GRCm39)	missense	probably benign
R8329:Gprc6a	UTSW	10	51,503,355 (GRCm39)	nonsense	probably null
R8517:Gprc6a	UTSW	10	51,507,337 (GRCm39)	missense	probably benign	0.00
R8723:Gprc6a	UTSW	10	51,491,518 (GRCm39)	missense	probably damaging	1.00
R8815:Gprc6a	UTSW	10	51,497,079 (GRCm39)	missense	probably benign	0.00
R8829:Gprc6a	UTSW	10	51,491,295 (GRCm39)	missense	probably damaging	0.99
R9151:Gprc6a	UTSW	10	51,497,182 (GRCm39)	missense	possibly damaging	0.94
R9420:Gprc6a	UTSW	10	51,491,506 (GRCm39)	missense	probably damaging	0.99
R9753:Gprc6a	UTSW	10	51,504,364 (GRCm39)	missense	probably benign	0.20
R9766:Gprc6a	UTSW	10	51,491,884 (GRCm39)	missense	probably damaging	1.00
R9790:Gprc6a	UTSW	10	51,491,395 (GRCm39)	missense	probably damaging	0.98
R9791:Gprc6a	UTSW	10	51,491,395 (GRCm39)	missense	probably damaging	0.98
Z1177:Gprc6a	UTSW	10	51,491,305 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTCCAAGCTAAGTATACTGTGTAGAC -3'
(R):5'- CTGCTTCTTAAGATGGCCCC -3'

Sequencing Primer
(F):5'- GGCCCAAGATTTGAGACCCAG -3'
(R):5'- TGCTTCTTAAGATGGCCCCAAAAC -3'

Posted On

2015-06-24