Mutagenetix > Incidental Mutation

Incidental Mutation 'R2160:Gprc6a'

235120

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

040163-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2160 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

51490919-51507554 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAAA to CA at 51491776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151341 (fasta)

Gene Model

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

AlphaFold

Q8K4Z6

Predicted Effect

probably null
Transcript: ENSMUST00000020062

SMART Domains

Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905

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 null
Transcript: ENSMUST00000218684

Predicted Effect

probably null
Transcript: ENSMUST00000219286

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	G	2: 154,161,595 (GRCm39)	N576D	possibly damaging	Het
Braf	C	T	6: 39,639,007 (GRCm39)	C248Y	probably damaging	Het
Carmil2	A	G	8: 106,423,680 (GRCm39)	E1218G	possibly damaging	Het
Cntnap4	G	T	8: 113,484,203 (GRCm39)	G419C	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah9	C	T	11: 66,008,309 (GRCm39)	D839N	probably damaging	Het
Evc2	A	G	5: 37,537,862 (GRCm39)	T517A	possibly damaging	Het
Fbxw8	G	A	5: 118,263,053 (GRCm39)	P209S	probably damaging	Het
Gcm1	A	G	9: 77,968,662 (GRCm39)	K121E	probably benign	Het
Herc2	A	G	7: 55,862,670 (GRCm39)	D4077G	probably benign	Het
Inpp4b	T	A	8: 82,848,004 (GRCm39)	L937*	probably null	Het
Ipcef1	A	T	10: 6,840,650 (GRCm39)	I349N	probably damaging	Het
Ipmk	A	G	10: 71,217,256 (GRCm39)	T267A	probably benign	Het
Jph3	G	T	8: 122,479,970 (GRCm39)	R216L	possibly damaging	Het
Kctd16	A	G	18: 40,392,138 (GRCm39)	E242G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Krt76	A	G	15: 101,796,820 (GRCm39)	Y360H	probably damaging	Het
Lctl	A	G	9: 64,025,049 (GRCm39)	I12V	probably benign	Het
Lrig3	T	C	10: 125,833,565 (GRCm39)	V347A	possibly damaging	Het
Lrrk2	C	T	15: 91,680,263 (GRCm39)	S2058F	probably damaging	Het
Mark2	G	C	19: 7,260,112 (GRCm39)	S111C	probably damaging	Het
Mon2	T	A	10: 122,911,834 (GRCm39)	K12*	probably null	Het
Nup58	A	G	14: 60,476,957 (GRCm39)	V238A	probably benign	Het
Pak5	T	C	2: 135,940,302 (GRCm39)	D504G	probably benign	Het
Pla2g4e	T	C	2: 120,015,687 (GRCm39)	S286G	probably benign	Het
Ppfia4	A	T	1: 134,241,461 (GRCm39)	V498D	probably benign	Het
Ppfibp1	A	G	6: 146,928,951 (GRCm39)	E846G	probably damaging	Het
Ppp3ca	G	A	3: 136,583,391 (GRCm39)	C166Y	probably damaging	Het
Prpf3	T	C	3: 95,752,542 (GRCm39)	K244E	probably benign	Het
Pzp	A	G	6: 128,502,239 (GRCm39)	S37P	probably damaging	Het
Rab11fip3	G	A	17: 26,288,028 (GRCm39)	H42Y	probably benign	Het
Sprn	C	A	7: 139,733,419 (GRCm39)		probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thap12	A	G	7: 98,359,333 (GRCm39)	S71G	probably damaging	Het
Vmn1r7	A	G	6: 57,001,879 (GRCm39)	F127S	probably damaging	Het
Vmn2r54	C	T	7: 12,349,420 (GRCm39)	V721I	probably benign	Het
Vmn2r56	A	G	7: 12,428,146 (GRCm39)	F707L	probably benign	Het
Zfp976	C	T	7: 42,263,354 (GRCm39)	S161N	probably benign	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
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'- CAAATGACCACTTGAATGCCCG -3'
(R):5'- TATCTGGACTGGGATGACTCC -3'

Sequencing Primer
(F):5'- TGCCCGTGCAGGTAAGAAC -3'
(R):5'- ACTGGGATGACTCCTTGGCTC -3'

Posted On

2014-10-01