Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03229:Gprc6a'

413808

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gprc6a

Ensembl Gene

ENSMUSG00000019905

Gene Name

G protein-coupled receptor, family C, group 6, member A

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03229

Quality Score

Status

Chromosome

Chromosomal Location

51490919-51507554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 51492699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 480 (N480T)

Ref Sequence

ENSEMBL: ENSMUSP00000151341 (fasta)

Gene Model

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

AlphaFold

Q8K4Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000020062
AA Change: N551T

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

SMART Domains

Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: N551T

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: N376T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219286
AA Change: N480T

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

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,990,936 (GRCm39)	I832T	probably damaging	Het
Adcyap1r1	T	C	6: 55,455,108 (GRCm39)	S124P	probably damaging	Het
Ccn3	A	G	15: 54,612,704 (GRCm39)	T238A	probably benign	Het
Coq4	A	G	2: 29,678,497 (GRCm39)	D41G	probably benign	Het
Cpb1	A	T	3: 20,304,001 (GRCm39)	Y354*	probably null	Het
Dip2b	T	C	15: 100,105,719 (GRCm39)		probably benign	Het
Dmxl2	C	T	9: 54,311,456 (GRCm39)	R1755H	probably damaging	Het
Dyrk4	G	T	6: 126,863,605 (GRCm39)		probably benign	Het
E2f7	T	C	10: 110,590,207 (GRCm39)	V120A	probably benign	Het
Fsip2	A	T	2: 82,808,420 (GRCm39)	I1580F	possibly damaging	Het
Gm9755	C	A	8: 67,967,324 (GRCm39)		noncoding transcript	Het
H2ac20	C	T	3: 96,127,953 (GRCm39)	A70T	probably damaging	Het
H2-T9	C	T	17: 36,438,614 (GRCm39)	G259E	probably damaging	Het
Hdlbp	T	C	1: 93,357,909 (GRCm39)	I331V	probably benign	Het
Heatr6	G	T	11: 83,672,271 (GRCm39)	G1093V	probably benign	Het
Kri1	T	C	9: 21,193,366 (GRCm39)	E162G	probably damaging	Het
Nckipsd	T	C	9: 108,688,813 (GRCm39)	V116A	probably benign	Het
Nek10	A	G	14: 14,986,686 (GRCm38)	H997R	probably benign	Het
Nxph1	A	G	6: 9,247,830 (GRCm39)	Y267C	probably damaging	Het
Or14a256	T	C	7: 86,265,286 (GRCm39)	D189G	probably benign	Het
Or8k40	A	T	2: 86,584,360 (GRCm39)	C241S	probably damaging	Het
Ppip5k2	A	T	1: 97,656,686 (GRCm39)	V829E	probably damaging	Het
Prkcz	A	C	4: 155,346,963 (GRCm39)	S573A	probably benign	Het
Prl2c1	T	A	13: 28,040,612 (GRCm39)		probably benign	Het
Rgs22	T	A	15: 36,015,925 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,130,057 (GRCm39)	I1253F	probably damaging	Het
Tarm1	A	G	7: 3,545,413 (GRCm39)	C146R	probably damaging	Het
Tor2a	A	T	2: 32,649,704 (GRCm39)	I189F	probably damaging	Het
Trappc9	A	T	15: 72,930,305 (GRCm39)	L17Q	probably damaging	Het
Trim45	T	A	3: 100,830,385 (GRCm39)	L53Q	probably damaging	Het
Ubr7	T	C	12: 102,735,414 (GRCm39)	L291P	probably damaging	Het
Unc79	T	C	12: 103,100,798 (GRCm39)	V1878A	probably damaging	Het
Wdr90	T	C	17: 26,064,437 (GRCm39)		probably benign	Het
Xpnpep1	T	C	19: 53,013,811 (GRCm39)	H42R	probably benign	Het
Zfp750	G	A	11: 121,403,778 (GRCm39)	H366Y	possibly damaging	Het
Zmynd11	A	G	13: 9,739,601 (GRCm39)	C462R	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
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
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

Posted On

2016-08-02