Mutagenetix > Incidental Mutation

Incidental Mutation 'R4007:Gprc5b'

311525

Institutional Source

Beutler Lab

Gene Symbol

Gprc5b

Ensembl Gene

ENSMUSG00000008734

Gene Name

G protein-coupled receptor, family C, group 5, member B

Synonyms

hypothetical protein, clone 2-63

MMRRC Submission

041610-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.405) question?

Stock #

R4007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118571270-118594434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118583437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 144 (A144V)

Ref Sequence

ENSEMBL: ENSMUSP00000146777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008878] [ENSMUST00000208394]

AlphaFold

Q923Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000008878
AA Change: A144V

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000008878
Gene: ENSMUSG00000008734
AA Change: A144V

Domain	Start	End	E-Value	Type
Pfam:7tm_3	67	294	2e-33	PFAM
low complexity region	360	371	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208394
AA Change: A144V

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.0728

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a reporter allele exhibit partial neonatal and postnatal lethality, altered spontaneous activity pattern, and decreased response to a new environment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,895,524 (GRCm39)		probably null	Het
Aff1	A	T	5: 103,932,088 (GRCm39)	K243N	probably benign	Het
Aknad1	T	C	3: 108,682,598 (GRCm39)	I558T	probably benign	Het
Ampd1	A	G	3: 102,999,776 (GRCm39)	I460V	probably damaging	Het
Atp10b	A	T	11: 43,150,679 (GRCm39)	H1459L	probably benign	Het
Card9	T	A	2: 26,243,012 (GRCm39)	R459W	possibly damaging	Het
Chd3	A	T	11: 69,239,827 (GRCm39)	I1667N	probably benign	Het
Col6a3	A	G	1: 90,730,291 (GRCm39)	S1672P	probably damaging	Het
Cul4a	A	G	8: 13,172,859 (GRCm39)	N164S	probably benign	Het
Dhx37	G	A	5: 125,501,995 (GRCm39)		probably benign	Het
Dnah1	T	C	14: 31,025,741 (GRCm39)		probably benign	Het
Elp1	G	A	4: 56,794,139 (GRCm39)	T168I	probably damaging	Het
Erbb4	C	A	1: 68,779,560 (GRCm39)	R72L	probably damaging	Het
F11r	A	G	1: 171,288,916 (GRCm39)	K178R	probably benign	Het
Fan1	A	G	7: 64,016,309 (GRCm39)	L605P	probably damaging	Het
Fcna	A	G	2: 25,516,018 (GRCm39)		probably null	Het
Filip1	A	G	9: 79,726,009 (GRCm39)	I870T	possibly damaging	Het
Gm11595	C	T	11: 99,662,861 (GRCm39)	C273Y	unknown	Het
Gml	T	A	15: 74,685,548 (GRCm39)	I146L	possibly damaging	Het
Htr2a	A	T	14: 74,879,581 (GRCm39)	H70L	probably benign	Het
Ifitm6	T	A	7: 140,596,627 (GRCm39)	I69F	possibly damaging	Het
Iqsec3	A	G	6: 121,353,187 (GRCm39)	S1144P	probably damaging	Het
Kazn	T	C	4: 141,834,203 (GRCm39)	T618A	unknown	Het
Mrps5	C	A	2: 127,433,755 (GRCm39)	T48K	possibly damaging	Het
Mst1	A	G	9: 107,960,147 (GRCm39)	E377G	possibly damaging	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Opn4	A	T	14: 34,321,789 (GRCm39)	S43T	probably benign	Het
Or8k35	T	C	2: 86,424,908 (GRCm39)	D88G	probably benign	Het
Plcb2	T	C	2: 118,541,274 (GRCm39)	E1021G	probably damaging	Het
Pramex1	A	T	X: 134,514,374 (GRCm39)	L305Q	probably damaging	Het
Rbsn	T	A	6: 92,166,800 (GRCm39)	T615S	probably benign	Het
Reg1	A	G	6: 78,404,013 (GRCm39)	D60G	probably null	Het
Ros1	A	T	10: 51,994,328 (GRCm39)	D1317E	probably damaging	Het
Rpap2	A	G	5: 107,751,738 (GRCm39)	I129V	probably damaging	Het
Rubcnl	G	T	14: 75,287,143 (GRCm39)	V604L	possibly damaging	Het
Slc26a4	T	A	12: 31,590,532 (GRCm39)	K374*	probably null	Het
Slc4a4	T	A	5: 89,362,452 (GRCm39)	S854R	probably damaging	Het
Sv2c	A	G	13: 96,123,341 (GRCm39)		probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tnik	A	G	3: 28,658,430 (GRCm39)	S572G	probably damaging	Het
Trbv13-3	T	C	6: 41,107,120 (GRCm39)	C14R	probably benign	Het
Ttc7	G	A	17: 87,597,679 (GRCm39)	D84N	possibly damaging	Het
Ubtd1	G	T	19: 42,020,555 (GRCm39)	G100*	probably null	Het
Vmn2r18	A	T	5: 151,508,711 (GRCm39)	W138R	probably damaging	Het
Zan	T	C	5: 137,462,201 (GRCm39)	T993A	unknown	Het
Zfp385b	C	T	2: 77,549,836 (GRCm39)	G83D	probably benign	Het
Zfp493	A	G	13: 67,932,038 (GRCm39)		probably benign	Het

Other mutations in Gprc5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Gprc5b	APN	7	118,583,084 (GRCm39)	missense	probably benign
IGL01687:Gprc5b	APN	7	118,583,209 (GRCm39)	missense	possibly damaging	0.67
IGL02937:Gprc5b	APN	7	118,583,017 (GRCm39)	missense	probably benign	0.36
IGL03088:Gprc5b	APN	7	118,582,856 (GRCm39)	missense	probably benign	0.08
IGL03106:Gprc5b	APN	7	118,583,416 (GRCm39)	missense	probably damaging	1.00
IGL03166:Gprc5b	APN	7	118,583,222 (GRCm39)	missense	probably benign	0.20
R0189:Gprc5b	UTSW	7	118,582,856 (GRCm39)	missense	probably benign	0.08
R0588:Gprc5b	UTSW	7	118,583,218 (GRCm39)	missense	probably benign
R1563:Gprc5b	UTSW	7	118,582,984 (GRCm39)	missense	probably benign	0.22
R2126:Gprc5b	UTSW	7	118,583,398 (GRCm39)	missense	probably damaging	1.00
R2842:Gprc5b	UTSW	7	118,583,302 (GRCm39)	missense	possibly damaging	0.93
R3153:Gprc5b	UTSW	7	118,575,770 (GRCm39)	missense	probably damaging	1.00
R3802:Gprc5b	UTSW	7	118,582,943 (GRCm39)	missense	possibly damaging	0.92
R3978:Gprc5b	UTSW	7	118,583,354 (GRCm39)	missense	probably damaging	1.00
R4183:Gprc5b	UTSW	7	118,583,749 (GRCm39)	missense	probably benign	0.03
R4297:Gprc5b	UTSW	7	118,583,437 (GRCm39)	missense	possibly damaging	0.55
R4298:Gprc5b	UTSW	7	118,583,437 (GRCm39)	missense	possibly damaging	0.55
R4299:Gprc5b	UTSW	7	118,583,437 (GRCm39)	missense	possibly damaging	0.55
R5286:Gprc5b	UTSW	7	118,582,910 (GRCm39)	missense	possibly damaging	0.93
R6492:Gprc5b	UTSW	7	118,583,800 (GRCm39)	missense	possibly damaging	0.68
R6606:Gprc5b	UTSW	7	118,583,296 (GRCm39)	missense	probably benign	0.00
R7085:Gprc5b	UTSW	7	118,582,855 (GRCm39)	missense	probably damaging	0.97
R7312:Gprc5b	UTSW	7	118,583,482 (GRCm39)	missense	probably damaging	1.00
R7593:Gprc5b	UTSW	7	118,583,492 (GRCm39)	missense	probably damaging	1.00
R9180:Gprc5b	UTSW	7	118,583,542 (GRCm39)	missense	probably damaging	1.00
R9383:Gprc5b	UTSW	7	118,575,761 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAAATCCATGGGCTCGTAGG -3'
(R):5'- TGATCACACTGCTTCTGATGC -3'

Sequencing Primer
(F):5'- ATGGGCTCGTAGGCGCAG -3'
(R):5'- TCCTAGTGAGACTACCCTTCATCAAG -3'

Posted On

2015-04-29