Mutagenetix > Incidental Mutation

Incidental Mutation 'R6415:Gpr182'

517878

Institutional Source

Beutler Lab

Gene Symbol

Gpr182

Ensembl Gene

ENSMUSG00000058396

Gene Name

G protein-coupled receptor 182

Synonyms

Gpcr17, NOW, G10-D, Admr, AM-R, Gpcr22

MMRRC Submission

044557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6415 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

127585471-127587667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127586375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 192 (D192V)

Ref Sequence

ENSEMBL: ENSMUSP00000100882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054287] [ENSMUST00000079692]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000054287

SMART Domains

Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617

Domain	Start	End	E-Value	Type
BTB	30	126	9.15e-24	SMART
low complexity region	197	206	N/A	INTRINSIC
low complexity region	213	229	N/A	INTRINSIC
ZnF_C2H2	372	394	6.4e0	SMART
ZnF_C2H2	400	420	3.21e1	SMART
ZnF_C2H2	451	474	9.31e1	SMART
ZnF_C2H2	480	502	6.92e0	SMART
ZnF_C2H2	508	530	1.79e-2	SMART
ZnF_C2H2	538	560	1.18e-2	SMART
ZnF_C2H2	605	627	2.57e-3	SMART
ZnF_C2H2	633	655	3.78e-1	SMART
ZnF_C2H2	661	683	2.49e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079692
AA Change: D192V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100882
Gene: ENSMUSG00000058396
AA Change: D192V

Domain	Start	End	E-Value	Type
Pfam:7tm_1	66	316	1.2e-40	PFAM
low complexity region	340	352	N/A	INTRINSIC

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,881,296 (GRCm39)	T482M	probably benign	Het
Adam9	A	G	8: 25,468,498 (GRCm39)	Y513H	probably damaging	Het
Adamts20	C	T	15: 94,222,540 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,588,759 (GRCm39)	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,354,243 (GRCm39)	I224T	probably damaging	Het
Ccdc18	A	G	5: 108,309,612 (GRCm39)	I402M	probably benign	Het
Cckar	A	T	5: 53,860,398 (GRCm39)	C73S	probably damaging	Het
Cdk13	C	T	13: 17,913,739 (GRCm39)	R880H	probably damaging	Het
Col1a1	A	G	11: 94,830,986 (GRCm39)	N218D	unknown	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp2c69	A	G	19: 39,831,365 (GRCm39)	F483L	probably benign	Het
Ddx60	A	G	8: 62,436,939 (GRCm39)	D963G	probably benign	Het
Dhx8	G	T	11: 101,628,513 (GRCm39)	A142S	unknown	Het
Dock7	C	T	4: 98,880,685 (GRCm39)	R926Q	probably damaging	Het
Dscaml1	C	T	9: 45,594,975 (GRCm39)	Q693*	probably null	Het
Dysf	G	A	6: 84,117,024 (GRCm39)	C1234Y	probably damaging	Het
Ercc1	G	A	7: 19,089,102 (GRCm39)		probably null	Het
Fam91a1	T	C	15: 58,314,766 (GRCm39)	L549P	probably damaging	Het
Fxyd2	T	A	9: 45,314,592 (GRCm39)	Y5N	possibly damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gps1	T	C	11: 120,678,548 (GRCm39)	V286A	possibly damaging	Het
Grk1	A	G	8: 13,463,127 (GRCm39)	Y383C	probably damaging	Het
H2bc15	T	C	13: 21,938,656 (GRCm39)	Y122H	probably benign	Het
Hic1	G	A	11: 75,057,143 (GRCm39)	P582L	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Khdc4	T	C	3: 88,607,279 (GRCm39)	F328L	probably benign	Het
Lactb	T	C	9: 66,877,927 (GRCm39)	K301E	possibly damaging	Het
Lrp3	A	T	7: 34,903,593 (GRCm39)	V251E	probably benign	Het
Mapt	G	A	11: 104,189,824 (GRCm39)	G265S	probably benign	Het
Obscn	A	T	11: 58,925,956 (GRCm39)	D6245E	probably damaging	Het
Or10al2	G	T	17: 37,983,448 (GRCm39)	C178F	possibly damaging	Het
Or1j12	A	G	2: 36,342,617 (GRCm39)	S7G	probably damaging	Het
Or4b1c	T	A	2: 90,126,381 (GRCm39)	I275F	probably damaging	Het
Or4c10b	T	C	2: 89,711,206 (GRCm39)	L12P	probably damaging	Het
Or6c207	T	C	10: 129,104,890 (GRCm39)	T101A	probably benign	Het
Or7e165	T	A	9: 19,695,044 (GRCm39)	I205N	probably damaging	Het
Or7g19	T	C	9: 18,856,415 (GRCm39)	L157P	probably damaging	Het
Oxsm	A	T	14: 16,241,904 (GRCm38)	H288Q	probably benign	Het
Pcdh9	C	T	14: 93,253,278 (GRCm39)	M1128I	possibly damaging	Het
Pcdha8	T	C	18: 37,127,614 (GRCm39)	Y699H	probably damaging	Het
Pgk2	A	T	17: 40,518,459 (GRCm39)	I323N	probably benign	Het
Plin4	A	G	17: 56,410,264 (GRCm39)	V1216A	probably damaging	Het
Ppargc1a	T	C	5: 51,620,176 (GRCm39)		probably benign	Het
Prelp	A	T	1: 133,840,516 (GRCm39)	I322N	probably benign	Het
Prelp	A	T	1: 133,842,395 (GRCm39)	I250N	probably damaging	Het
Prss27	T	A	17: 24,261,882 (GRCm39)	C63*	probably null	Het
Rab38	G	A	7: 88,079,748 (GRCm39)	A47T	possibly damaging	Het
Rprd2	G	A	3: 95,681,531 (GRCm39)	A436V	probably benign	Het
Sacs	A	T	14: 61,442,808 (GRCm39)	N1618I	probably damaging	Het
Scp2	T	G	4: 107,962,337 (GRCm39)	S63R	probably benign	Het
Sftpb	T	G	6: 72,281,633 (GRCm39)	W9G	probably damaging	Het
Slco1a4	A	T	6: 141,780,415 (GRCm39)	L125*	probably null	Het
Sptlc1	T	C	13: 53,505,728 (GRCm39)		probably null	Het
Sub1	T	A	15: 11,986,560 (GRCm39)	M96L	probably benign	Het
Tanc1	T	C	2: 59,667,458 (GRCm39)	V1233A	probably benign	Het
Tmem140	A	T	6: 34,849,658 (GRCm39)	D58V	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,083,811 (GRCm39)	Y91H	probably benign	Het
Trap1	C	T	16: 3,861,856 (GRCm39)	R636H	possibly damaging	Het
Ttc14	A	G	3: 33,857,724 (GRCm39)	H275R	possibly damaging	Het
Tut7	T	A	13: 59,964,110 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,391,869 (GRCm39)	W494R	probably damaging	Het
Ypel1	A	G	16: 16,921,438 (GRCm39)		probably null	Het
Zbtb44	T	A	9: 30,975,510 (GRCm39)	I380N	possibly damaging	Het
Zswim5	T	C	4: 116,838,063 (GRCm39)	F798L	possibly damaging	Het

Other mutations in Gpr182

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Gpr182	APN	10	127,586,559 (GRCm39)	missense	probably benign	0.09
IGL00983:Gpr182	APN	10	127,586,657 (GRCm39)	missense	possibly damaging	0.89
IGL01337:Gpr182	APN	10	127,586,655 (GRCm39)	missense	possibly damaging	0.95
IGL01810:Gpr182	APN	10	127,586,733 (GRCm39)	missense	probably damaging	1.00
R0449:Gpr182	UTSW	10	127,586,565 (GRCm39)	missense	probably damaging	1.00
R0554:Gpr182	UTSW	10	127,586,940 (GRCm39)	missense	probably benign	0.00
R2229:Gpr182	UTSW	10	127,586,010 (GRCm39)	missense	possibly damaging	0.91
R2292:Gpr182	UTSW	10	127,586,051 (GRCm39)	missense	possibly damaging	0.89
R2349:Gpr182	UTSW	10	127,586,806 (GRCm39)	missense	probably damaging	1.00
R2445:Gpr182	UTSW	10	127,586,496 (GRCm39)	missense	probably benign	0.01
R5977:Gpr182	UTSW	10	127,586,748 (GRCm39)	missense	possibly damaging	0.79
R6290:Gpr182	UTSW	10	127,586,893 (GRCm39)	missense	probably benign	0.00
R8014:Gpr182	UTSW	10	127,586,874 (GRCm39)	missense	possibly damaging	0.59
R8093:Gpr182	UTSW	10	127,586,783 (GRCm39)	missense	probably damaging	1.00
R8333:Gpr182	UTSW	10	127,585,790 (GRCm39)	missense	probably benign	0.08
R8543:Gpr182	UTSW	10	127,586,861 (GRCm39)	missense	probably benign	0.43
R8788:Gpr182	UTSW	10	127,586,529 (GRCm39)	missense	probably benign	0.00
R9047:Gpr182	UTSW	10	127,586,517 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATAGTCACTTGGTAGGGCAGC -3'
(R):5'- AGCATCTTCTTCCTGACGTG -3'

Sequencing Primer
(F):5'- CACATCAACAGGCAGTGGCG -3'
(R):5'- TGCCTCAGCATTGACCG -3'

Posted On

2018-05-24