Mutagenetix > Incidental Mutation

Incidental Mutation 'R4408:Gprc6a'

327763

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

041690-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4408 (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 51504639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 68 (I68M)

Ref Sequence

ENSEMBL: ENSMUSP00000151341 (fasta)

Gene Model

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

AlphaFold

Q8K4Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000020062
AA Change: I68M

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: I68M

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
AA Change: I68M

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000219286
AA Change: I68M

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0967

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (35/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1h	A	G	17: 25,599,601 (GRCm39)	V1588A	probably damaging	Het
Card6	T	A	15: 5,130,536 (GRCm39)	M287L	probably damaging	Het
Fam227b	T	A	2: 125,958,045 (GRCm39)	Y240F	possibly damaging	Het
Fbln1	T	A	15: 85,115,757 (GRCm39)		probably null	Het
Fndc5	A	G	4: 129,036,322 (GRCm39)		probably null	Het
Gm10799	C	A	2: 103,898,409 (GRCm39)	A99S	possibly damaging	Het
Gm27013	A	T	6: 130,654,728 (GRCm39)	S245T	possibly damaging	Het
Gm5592	A	G	7: 40,935,872 (GRCm39)	T125A	probably benign	Het
Gml2	T	C	15: 74,696,188 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,585,498 (GRCm39)	N149K	possibly damaging	Het
Hnrnpu	T	C	1: 178,158,368 (GRCm39)		probably benign	Het
Irf5	A	G	6: 29,534,000 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,297,513 (GRCm39)	K3149N	probably benign	Het
Lrrn3	A	G	12: 41,504,041 (GRCm39)	V92A	probably benign	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Or4k77	T	A	2: 111,199,625 (GRCm39)	I216K	possibly damaging	Het
Or9s18	A	G	13: 65,300,514 (GRCm39)	T159A	probably benign	Het
Osr2	T	C	15: 35,300,617 (GRCm39)	Y58H	possibly damaging	Het
Pop5	C	T	5: 115,378,836 (GRCm39)		probably benign	Het
Ror2	A	G	13: 53,272,997 (GRCm39)	C211R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sgsm2	C	A	11: 74,742,592 (GRCm39)	R957L	probably damaging	Het
Slc16a11	A	G	11: 70,106,560 (GRCm39)		probably null	Het
Spag17	T	A	3: 100,010,694 (GRCm39)	Y2063N	probably benign	Het
Usp25	A	C	16: 76,912,341 (GRCm39)	K1020T	probably damaging	Het
Vmn1r23	T	C	6: 57,903,353 (GRCm39)	I142V	probably benign	Het
Vmn1r235	A	G	17: 21,481,854 (GRCm39)	K60E	probably damaging	Het
Vmn2r33	A	C	7: 7,554,229 (GRCm39)	F775V	probably damaging	Het
Vps13b	C	T	15: 35,709,440 (GRCm39)	P1796S	probably damaging	Het
Vwa3a	G	A	7: 120,378,149 (GRCm39)	V480I	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
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
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'- TGACCCTTGGCATGTAGCTG -3'
(R):5'- TTCTGCTAAAACTTATGATCAGGGG -3'

Sequencing Primer
(F):5'- AGACCACAGTTTCTCTAGAGCAGTTG -3'
(R):5'- GACAGAGACATGGTTGAGAT -3'

Posted On

2015-07-07