Mutagenetix > Incidental Mutations

Incidental Mutation 'R5267:Gprc5c'

401793

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

042859-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R5267 (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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (86/88)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	T	C	5: 90,584,857	F509S	probably damaging	Het
Abca12	T	A	1: 71,335,774		probably benign	Het
Adam15	T	G	3: 89,349,899		probably benign	Het
Atp12a	T	C	14: 56,384,211	S768P	probably damaging	Het
Atp8a1	G	A	5: 67,762,544	T393I	probably damaging	Het
B4galnt4	T	G	7: 141,070,611	I3S	probably damaging	Het
Bfsp1	G	A	2: 143,827,051	T536I	probably benign	Het
Brsk1	G	T	7: 4,704,709	W284L	probably damaging	Het
C87977	A	T	4: 144,213,005		probably benign	Het
Cadm3	A	T	1: 173,337,102	D370E	probably damaging	Het
Cadps2	A	G	6: 23,626,668	I207T	possibly damaging	Het
Calr4	A	C	4: 109,244,076	T52P	probably damaging	Het
Catsperg2	G	A	7: 29,717,066	T307M	probably damaging	Het
Ckap5	T	A	2: 91,591,752	N1166K	probably null	Het
Clca4a	G	A	3: 144,953,812	T761I	probably damaging	Het
Cnksr3	A	T	10: 7,126,633		probably null	Het
Diaph3	A	G	14: 86,656,553	S7P	probably benign	Het
Dnah7a	G	A	1: 53,479,692	P2969S	probably damaging	Het
Dnaic2	A	T	11: 114,740,467	T221S	probably benign	Het
Dsc2	A	G	18: 20,034,583		probably null	Het
Eif4g1	A	G	16: 20,685,533	N789S	probably damaging	Het
Fn1	C	T	1: 71,629,704	R694H	probably damaging	Het
Gm5478	G	A	15: 101,644,402	R365C	probably damaging	Het
Gm5591	A	T	7: 38,518,914	M845K	possibly damaging	Het
Gm5800	A	T	14: 51,713,837		probably null	Het
H2-Q2	A	T	17: 35,343,179	Y134F	probably benign	Het
Hcfc1r1	A	G	17: 23,674,674	R76G	possibly damaging	Het
Hectd4	T	C	5: 121,344,824	I3146T	probably benign	Het
Herc1	G	T	9: 66,461,809	L2928F	probably damaging	Het
Hmx3	C	T	7: 131,544,169	A202V	probably benign	Het
Ikzf3	A	T	11: 98,490,580	M58K	probably benign	Het
Il20ra	A	G	10: 19,749,359	T129A	probably damaging	Het
Il21	T	C	3: 37,227,797	H66R	probably benign	Het
Kcnh5	A	T	12: 75,087,416	M453K	probably damaging	Het
Kdf1	C	G	4: 133,528,947	A325G	probably damaging	Het
Klhl10	C	T	11: 100,447,221	A262V	probably benign	Het
Krt81	T	A	15: 101,459,459	N464I	probably benign	Het
Ksr1	A	T	11: 79,020,425	I698N	probably damaging	Het
Lrp2	A	G	2: 69,548,978	V130A	possibly damaging	Het
Mcm2	T	C	6: 88,897,450	T25A	probably benign	Het
Mrps18c	T	A	5: 100,803,094	Y93*	probably null	Het
Mycl	C	T	4: 123,000,496	A363V	probably damaging	Het
Mylk2	C	A	2: 152,913,549	A211E	probably benign	Het
Myo5a	G	A	9: 75,152,010	D507N	probably damaging	Het
Myo7b	A	G	18: 31,998,734	F470L	probably damaging	Het
Oas1a	A	T	5: 120,899,221	C248S	probably benign	Het
Olfr1036	T	A	2: 86,075,538	V266E	probably benign	Het
Olfr1229	C	T	2: 89,282,230	W301*	probably null	Het
Olfr1471	A	G	19: 13,445,111	Y33C	probably damaging	Het
Olfr26	G	A	9: 38,855,805	V248M	probably damaging	Het
Olfr492	A	G	7: 108,322,978	S233P	probably damaging	Het
Olfr612	T	C	7: 103,538,824	I137V	probably benign	Het
Olfr701	T	C	7: 106,818,808	S242P	probably damaging	Het
Otub1	C	A	19: 7,199,992	G67C	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Paqr8	A	G	1: 20,934,696	I25V	probably benign	Het
Pcdh1	A	G	18: 38,192,199	Y897H	probably damaging	Het
Pde4d	T	G	13: 109,260,809		probably benign	Het
Pdzd8	C	A	19: 59,301,026	K647N	probably damaging	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Praf2	T	C	X: 7,730,402		probably benign	Het
Psg25	A	T	7: 18,524,786	Y322N	possibly damaging	Het
Rxrg	A	G	1: 167,635,766	E402G	probably damaging	Het
Selenok	T	A	14: 29,970,065	V20E	probably benign	Het
Sipa1	G	A	19: 5,655,758	T394I	probably benign	Het
Spag17	A	T	3: 100,061,948	N1247I	probably damaging	Het
Spata31d1c	A	G	13: 65,035,904	D420G	probably damaging	Het
Syk	A	G	13: 52,641,926	K519R	probably benign	Het
Syne2	A	T	12: 75,938,741	E1654D	possibly damaging	Het
Tha1	A	C	11: 117,869,676	S241A	probably damaging	Het
Thsd7a	T	A	6: 12,379,602	E941V	probably damaging	Het
Tjp1	T	C	7: 65,323,049	T548A	probably damaging	Het
Tube1	C	A	10: 39,144,556	D210E	probably benign	Het
Vmn1r183	T	A	7: 24,055,546	I258N	possibly damaging	Het
Vmn1r89	A	T	7: 13,220,213	N292I	probably damaging	Het
Vmp1	C	A	11: 86,663,551	V79L	probably benign	Het
Zfp182	T	A	X: 21,036,366	D125V	possibly damaging	Het
Zfp975	T	G	7: 42,662,230	T320P	probably damaging	Het
Znrf1	G	A	8: 111,537,267	A43T	probably benign	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
R5475:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5508:Gprc5c	UTSW	11	114864267	missense	possibly damaging	0.92
R5557: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'- AAATGCCTTGTTCTCCACAAACATG -3'

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

Posted On

2016-07-06