Mutagenetix > Incidental Mutation

Incidental Mutation 'R7736:Gprc6a'

596273

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 #

R7736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51614823-51631461 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 51615453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 733 (N733K)

Ref Sequence

ENSEMBL: ENSMUSP00000020062 (fasta)

Gene Model

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

AlphaFold

Q8K4Z6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020062
AA Change: N733K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: N733K

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

possibly damaging
Transcript: ENSMUST00000218684
AA Change: N558K

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000219286
AA Change: N662K

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,319,964	D561A	probably benign	Het
Adgrg1	T	C	8: 95,005,337	F204S	probably benign	Het
Apoa2	T	C	1: 171,226,172	L72P	probably damaging	Het
Arhgef10	A	T	8: 14,980,583	K987*	probably null	Het
Arrb1	A	G	7: 99,539,774	D9G	unknown	Het
Asph	A	G	4: 9,621,930	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,387,164	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,585,193	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,893,790	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,312,105	G261R	probably benign	Het
Cd53	T	A	3: 106,767,936	Y106F	probably benign	Het
Cdhr3	T	A	12: 33,053,520	D366V	probably benign	Het
Ceacam10	G	C	7: 24,781,211	V256L	unknown	Het
Cilp2	A	G	8: 69,881,421	Y976H	probably damaging	Het
Cklf	A	G	8: 104,261,555	T107A	possibly damaging	Het
Dhx16	T	A	17: 35,881,676	W167R	possibly damaging	Het
Dkk2	T	G	3: 132,178,014	L225R	probably damaging	Het
Dmbt1	A	T	7: 131,116,896	D1782V	unknown	Het
Ebag9	A	T	15: 44,628,404	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,477,317	N144D	possibly damaging	Het
Foxk2	A	T	11: 121,299,647	Q538L	possibly damaging	Het
Fpgt	T	G	3: 155,087,110	I427L	probably benign	Het
Ganc	A	T	2: 120,433,814	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379	Y556C	probably damaging	Het
Gga2	A	T	7: 121,990,524	V534E	probably damaging	Het
Gm6904	C	T	14: 59,251,145	D68N	probably benign	Het
Gm7324	T	A	14: 43,714,799	S300T	possibly damaging	Het
Hivep3	C	T	4: 120,095,543	T352I	possibly damaging	Het
Ift88	T	G	14: 57,445,664	V266G	probably benign	Het
Ikbkap	T	C	4: 56,776,920	T626A	possibly damaging	Het
Ip6k1	G	T	9: 108,045,692	G341V	probably damaging	Het
Itga3	G	T	11: 95,076,203	A45E	probably damaging	Het
Kctd14	T	A	7: 97,457,940	L134Q	probably damaging	Het
Lats1	C	A	10: 7,702,364	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,497,459	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,630,360	T444A	probably benign	Het
M1ap	T	C	6: 83,005,584	I283T	probably benign	Het
Mapre2	T	C	18: 23,877,955	S207P	probably benign	Het
Moxd1	T	C	10: 24,282,710	F421L	probably damaging	Het
Nos2	T	A	11: 78,922,366	C33*	probably null	Het
Olfr115	A	T	17: 37,610,412	L113H	probably damaging	Het
Olfr154	T	C	2: 85,664,414	T7A	probably damaging	Het
Olfr345	A	T	2: 36,640,185	I49F	probably damaging	Het
Otud4	T	C	8: 79,655,765	I201T	possibly damaging	Het
Pank4	T	C	4: 154,969,747	Y128H	probably benign	Het
Pitpnm2	A	G	5: 124,123,030	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,969,623	V8A	probably benign	Het
Por	A	G	5: 135,731,122	E221G	probably damaging	Het
Prokr2	A	T	2: 132,381,580	L14*	probably null	Het
Ptgis	A	G	2: 167,191,971	F459S	unknown	Het
Ptpru	T	C	4: 131,788,382	E887G	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541		probably benign	Het
Slc18a1	A	G	8: 69,065,554		probably null	Het
Slc27a3	A	G	3: 90,389,433	S120P	probably benign	Het
Slc2a12	T	A	10: 22,664,818	Y191N	probably damaging	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Syncrip	A	G	9: 88,461,668		probably null	Het
Taar4	T	A	10: 23,960,999	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,032,466	G237D	probably benign	Het
Tle1	T	C	4: 72,199,334	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,940,568	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455	F698L	probably benign	Het
Ttn	T	A	2: 76,909,230	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,452,891	R685K	probably benign	Het
Ylpm1	C	A	12: 85,012,983	A321E	unknown	Het
Zdbf2	T	A	1: 63,308,007	Y1848*	probably null	Het
Zfand2b	T	A	1: 75,169,532	N61K	probably null	Het
Zfp867	C	T	11: 59,463,190	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,195,509	T404I	probably benign	Het
Zrsr1	C	T	11: 22,973,510	Q95*	probably null	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
R7579:Gprc6a	UTSW	10	51626787	missense	probably benign
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
R8829:Gprc6a	UTSW	10	51615199	missense	probably damaging	0.99
R9151:Gprc6a	UTSW	10	51621086	missense	possibly damaging	0.94
R9420:Gprc6a	UTSW	10	51615410	missense	probably damaging	0.99
R9753:Gprc6a	UTSW	10	51628268	missense	probably benign	0.20
R9766:Gprc6a	UTSW	10	51615788	missense	probably damaging	1.00
R9790:Gprc6a	UTSW	10	51615299	missense	probably damaging	0.98
R9791:Gprc6a	UTSW	10	51615299	missense	probably damaging	0.98
Z1177:Gprc6a	UTSW	10	51615209	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATCCCAAAGGTCAGGAACTTG -3'
(R):5'- ACTTTGCGTGCAAGACCAGG -3'

Sequencing Primer
(F):5'- CCAAAGGTCAGGAACTTGGCTTC -3'
(R):5'- GTGTCTCCTGTATTTTGACCAAG -3'

Posted On

2019-11-26