Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Gprc5c'

435470

Institutional Source

Beutler Lab

Gene Symbol

Gprc5c

Ensembl Gene

ENSMUSG00000051043

Gene Name

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

Synonyms

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114851152-114872617 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114864267 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 257 (V257L)

Ref Sequence

ENSEMBL: ENSMUSP00000061760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021071] [ENSMUST00000053361] [ENSMUST00000122967] [ENSMUST00000133245] [ENSMUST00000136785] [ENSMUST00000142262] [ENSMUST00000152314] [ENSMUST00000177952]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021071
AA Change: V257L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
AA Change: V257L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:7tm_3	58	302	1.3e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053361
AA Change: V257L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: V257L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:7tm_3	60	301	1.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122967

SMART Domains

Protein: ENSMUSP00000114335
Gene: ENSMUSG00000051043

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133245

SMART Domains

Protein: ENSMUSP00000121572
Gene: ENSMUSG00000051043

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136785
AA Change: V257L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116786
Gene: ENSMUSG00000051043
AA Change: V257L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:7tm_3	58	283	1.5e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142262

SMART Domains

Protein: ENSMUSP00000121524
Gene: ENSMUSG00000051043

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:7tm_3	58	133	6.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152314

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177952
AA Change: V257L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
AA Change: V257L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:7tm_3	58	302	1.3e-42	PFAM

Meta Mutation Damage Score

0.1280

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is 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 specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele are behaviorally normal but exhibit reticulocytosis, increased mean corpuscular volume, increased percentage of basophils, decreased mean corpuscular hemogloblin concentration, and increased alkaline phophatase and lactic dehydrogenase levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,717,501	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,714,949	N646K	probably benign	Het
Abi2	C	A	1: 60,438,912		probably benign	Het
Adamts13	T	C	2: 26,973,639	S35P	probably benign	Het
B4galt3	A	G	1: 171,272,519		probably null	Het
Bag5	T	C	12: 111,710,090	N433S	probably benign	Het
Birc7	T	A	2: 180,932,979	V218D	probably benign	Het
Catsperg1	T	G	7: 29,195,871	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,908,613	T179P	probably damaging	Het
Col4a3	C	T	1: 82,715,247		probably benign	Het
Crlf1	A	G	8: 70,498,667	I65M	probably benign	Het
Dennd4a	T	G	9: 64,904,227	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,268,368	R148Q	probably damaging	Het
Dlg4	C	T	11: 70,042,280	P504L	probably damaging	Het
Dopey2	A	G	16: 93,763,931	T886A	probably damaging	Het
Dst	T	A	1: 34,282,586	V4394E	probably damaging	Het
Endov	T	C	11: 119,502,360	M112T	possibly damaging	Het
Eps8	T	C	6: 137,479,096	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,770,754	Y7*	probably null	Het
Farsb	C	T	1: 78,469,251		probably null	Het
Fasn	A	G	11: 120,812,426	M1591T	probably benign	Het
Fbn2	C	T	18: 58,115,659	A384T	probably benign	Het
Fnta	T	C	8: 25,999,536	D349G	probably damaging	Het
Glis3	G	T	19: 28,264,009	H842N	probably benign	Het
Gm17067	G	A	7: 42,708,521	P186S	probably damaging	Het
Hk3	A	T	13: 55,012,075	L362*	probably null	Het
Ing3	A	G	6: 21,968,909	H130R	possibly damaging	Het
Inpp4b	A	T	8: 81,952,259	Q306L	probably damaging	Het
Kcnq2	T	C	2: 181,134,897	K66E	probably benign	Het
Kif21b	C	A	1: 136,170,059	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,972,134	N84Y	probably damaging	Het
Mill2	T	A	7: 18,855,959	Y55*	probably null	Het
Mmachc	T	C	4: 116,705,900	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259	V524A	probably benign	Het
Olfr1116	A	T	2: 87,269,392	T204S	possibly damaging	Het
Olfr1189	G	A	2: 88,592,553	V250M	probably damaging	Het
Olfr1453	C	A	19: 13,027,640	A230S	probably benign	Het
Olfr312	G	A	11: 58,831,987	V278I	probably benign	Het
Olfr357	T	A	2: 36,997,346	C179S	probably damaging	Het
Olfr832	T	C	9: 18,945,170	I174T	possibly damaging	Het
Pigu	G	T	2: 155,278,629	Y404*	probably null	Het
Plaa	A	T	4: 94,584,007		probably null	Het
Plcg2	A	T	8: 117,586,557	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,560,152	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,001	V1030D	probably benign	Het
Raver2	C	A	4: 101,136,139	S505R	probably benign	Het
Samd7	A	T	3: 30,756,620	Q262L	probably benign	Het
Scn9a	T	A	2: 66,547,103	N412Y	probably damaging	Het
Sytl1	C	A	4: 133,259,356	R91M	probably damaging	Het
Tead3	A	T	17: 28,336,270		probably benign	Het
Tgm1	A	G	14: 55,705,643	M580T	probably benign	Het
Themis	A	T	10: 28,781,886	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,109,531	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 85,063,800	V695A	probably damaging	Het
Trim23	A	T	13: 104,187,509	T159S	probably damaging	Het
Trim66	T	C	7: 109,483,737	Y166C	probably benign	Het
Troap	A	T	15: 99,075,794	T111S	possibly damaging	Het
Ttn	T	C	2: 76,890,390		probably null	Het
Tub	T	G	7: 109,025,718	S180A	probably damaging	Het
Vcan	A	G	13: 89,703,112	V1243A	possibly damaging	Het
Zfp608	T	C	18: 54,987,870	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,967,363	V1021E	probably damaging	Het
Zim1	T	A	7: 6,677,711	I318F	probably damaging	Het

Other mutations in Gprc5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Gprc5c	APN	11	114864252	missense	probably benign	0.01
IGL01762:Gprc5c	APN	11	114864024	missense	probably benign	0.28
IGL02039:Gprc5c	APN	11	114864486	nonsense	probably null
R0800:Gprc5c	UTSW	11	114866711	missense	probably damaging	0.99
R1618:Gprc5c	UTSW	11	114864394	missense	possibly damaging	0.88
R4198:Gprc5c	UTSW	11	114863860	missense	probably damaging	1.00
R4807:Gprc5c	UTSW	11	114864498	missense	probably damaging	0.97
R4846:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R4902:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R4904:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5016:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5048:Gprc5c	UTSW	11	114870351	makesense	probably null
R5106:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5109:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5173:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5266:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5267:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5475:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5508:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5562:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5563:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5598:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5599:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5729:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5756:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5792:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5793:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5794:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5817:Gprc5c	UTSW	11	114863624	nonsense	probably null
R5976:Gprc5c	UTSW	11	114864487	missense	possibly damaging	0.89
R6151:Gprc5c	UTSW	11	114864025	missense	probably damaging	1.00
R6617:Gprc5c	UTSW	11	114864105	missense	probably benign	0.05
R7108:Gprc5c	UTSW	11	114864282	missense	probably damaging	1.00
R7191:Gprc5c	UTSW	11	114868617	missense	possibly damaging	0.56
R7796:Gprc5c	UTSW	11	114864532	missense	probably damaging	0.97
R8543:Gprc5c	UTSW	11	114864268	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGTCAGTGCCGACTCGAC -3'
(R):5'- CTTCAGGATGGTCTCATAGCCC -3'

Sequencing Primer
(F):5'- GACCATGACCTCTCCGTGTG -3'
(R):5'- GGGTACATGTCCCCCTGGTAG -3'

Posted On

2016-10-24