Mutagenetix > Incidental Mutation

Incidental Mutation 'R0050:Gprc6a'

218461

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

038344-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0050 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

51490919-51507554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51491485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 755 (M755L)

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: M755L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: M755L

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: M580L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219286
AA Change: M684L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.0922

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (54/55)

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
Abca9	C	T	11: 110,036,417 (GRCm39)	C564Y	probably damaging	Het
Adamts2	T	C	11: 50,666,222 (GRCm39)	V406A	probably damaging	Het
Ankar	T	A	1: 72,695,323 (GRCm39)	E1093D	probably damaging	Het
Arhgef38	C	A	3: 132,837,957 (GRCm39)	D75Y	probably damaging	Het
Atg4b	T	A	1: 93,715,440 (GRCm39)		probably benign	Het
Cadm2	A	G	16: 66,750,154 (GRCm39)		probably benign	Het
Ces2c	T	A	8: 105,574,831 (GRCm39)	M96K	probably benign	Het
Dmrt3	C	A	19: 25,599,953 (GRCm39)	P266H	probably damaging	Het
Dock9	A	G	14: 121,844,637 (GRCm39)	V1124A	probably benign	Het
Edem1	T	C	6: 108,805,809 (GRCm39)	F37L	possibly damaging	Het
Ermp1	C	A	19: 29,606,184 (GRCm39)	A190S	probably damaging	Het
Gm10267	T	A	18: 44,289,520 (GRCm39)		probably benign	Het
Golga2	T	A	2: 32,182,139 (GRCm39)	V29D	probably damaging	Het
H1f8	G	T	6: 115,924,729 (GRCm39)	K78N	probably damaging	Het
Lama3	T	A	18: 12,537,160 (GRCm39)	H268Q	probably damaging	Het
Lrriq1	A	G	10: 102,904,792 (GRCm39)	V1614A	probably damaging	Het
Oaz2	A	G	9: 65,595,084 (GRCm39)	E61G	probably damaging	Het
Pear1	G	T	3: 87,663,294 (GRCm39)	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,437,203 (GRCm39)	T3493S	possibly damaging	Het
Plekhg5	T	C	4: 152,192,545 (GRCm39)		probably null	Het
Ppp3cb	A	G	14: 20,581,820 (GRCm39)	V65A	possibly damaging	Het
Rheb	A	T	5: 25,022,832 (GRCm39)		probably benign	Het
Ros1	G	A	10: 51,977,899 (GRCm39)	T1449M	probably damaging	Het
Septin4	T	C	11: 87,458,172 (GRCm39)	L182S	probably damaging	Het
Slc6a12	T	C	6: 121,337,378 (GRCm39)		probably benign	Het
Stx2	A	G	5: 129,076,572 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,892,299 (GRCm39)	D764E	probably damaging	Het
Trmt2a	A	T	16: 18,068,707 (GRCm39)	E234D	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
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
R4306:Gprc6a	UTSW	10	51,492,735 (GRCm39)	missense	probably damaging	1.00
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'- ATGACTATAATCTCCACGGCGGGC -3'
(R):5'- AGGCAGACCTTATTTGGTGTGAGC -3'

Sequencing Primer
(F):5'- CGGGCAAATACTTGCCGAATG -3'
(R):5'- GACAATGTTCCTGAAGTGCC -3'

Posted On

2014-08-11