Mutagenetix > Incidental Mutation

Incidental Mutation 'R5595:Mrgprb1'

437771

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb1

Ensembl Gene

ENSMUSG00000070547

Gene Name

MAS-related GPR, member B1

Synonyms

MrgB1

MMRRC Submission

043147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5595 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48444113-48456342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48447684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 160 (I160K)

Ref Sequence

ENSEMBL: ENSMUSP00000091946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094384] [ENSMUST00000188095] [ENSMUST00000188918]

AlphaFold

Q3UG61

Predicted Effect

probably damaging
Transcript: ENSMUST00000094384
AA Change: I160K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: I160K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	50	227	5.5e-11	PFAM
Pfam:7tm_1	59	290	4.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188095

Predicted Effect

probably benign
Transcript: ENSMUST00000188918

SMART Domains

Protein: ENSMUSP00000140432
Gene: ENSMUSG00000070547

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	23	84	3e-6	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,864,279	F991S	probably benign	Het
4931406B18Rik	A	G	7: 43,497,872	I218T	possibly damaging	Het
4931440F15Rik	T	C	11: 29,824,288	N390D	probably benign	Het
9930111J21Rik2	C	T	11: 49,019,711	A632T	possibly damaging	Het
Akt1	A	T	12: 112,658,616	L166Q	probably null	Het
Alpk2	A	T	18: 65,266,248	D2086E	probably damaging	Het
Ankrd11	A	T	8: 122,894,304	C915*	probably null	Het
Ankrd44	A	T	1: 54,735,050	I398K	probably damaging	Het
Ankrd44	T	C	1: 54,762,347	T274A	probably damaging	Het
Arhgef2	A	G	3: 88,642,976	T663A	probably benign	Het
BC048403	T	C	10: 121,740,147		probably benign	Het
Btbd16	G	A	7: 130,823,303	M471I	possibly damaging	Het
Btbd16	C	A	7: 130,823,304	Q472K	probably damaging	Het
Cdc37	G	A	9: 21,143,213	R39C	probably damaging	Het
Cnnm1	A	G	19: 43,465,157	N537S	possibly damaging	Het
Cop1	T	A	1: 159,250,073	D159E	probably benign	Het
Crtac1	C	T	19: 42,413,951	V73I	probably benign	Het
Cryz	T	A	3: 154,606,518	V84E	probably damaging	Het
Ctnnd2	C	T	15: 30,669,543	L433F	probably benign	Het
Ctsq	C	A	13: 61,037,060	D271Y	probably benign	Het
Cyp3a25	A	C	5: 145,994,863		probably null	Het
Dmbt1	G	C	7: 131,054,067	W412C	probably benign	Het
Eif4e1b	G	A	13: 54,786,716	V131I	possibly damaging	Het
Epha1	A	G	6: 42,364,634	V494A	possibly damaging	Het
Fbxl4	T	C	4: 22,433,641	S593P	probably damaging	Het
Fbxo41	G	A	6: 85,479,901	P429S	probably benign	Het
Fgfr3	G	A	5: 33,730,003	C204Y	probably damaging	Het
Gbf1	T	C	19: 46,284,422	V1665A	possibly damaging	Het
Htt	T	A	5: 34,905,397	V2825E	probably damaging	Het
Irs1	A	T	1: 82,289,925	V190E	probably damaging	Het
Klk1	T	C	7: 44,228,737		probably null	Het
Kmt2d	T	C	15: 98,850,024		probably benign	Het
Meox1	T	C	11: 101,879,343	E186G	probably damaging	Het
Micu2	G	A	14: 57,971,744	R86W	probably damaging	Het
Nckap1l	T	A	15: 103,475,658	M561K	possibly damaging	Het
Olfr1199	A	T	2: 88,756,405	I90N	probably damaging	Het
Olfr605	A	T	7: 103,442,428	S232T	probably damaging	Het
Olfr689	A	T	7: 105,314,006	M1L	probably benign	Het
Otoa	T	A	7: 121,121,977	L405H	probably damaging	Het
Phyhip	A	T	14: 70,466,874	M178L	probably benign	Het
Pkd1l3	A	T	8: 109,655,520	N1630I	probably damaging	Het
Plek2	T	A	12: 78,894,109	T247S	probably benign	Het
Rhbdl3	T	C	11: 80,337,583	V293A	probably damaging	Het
Rock2	T	A	12: 16,942,809	F193Y	probably damaging	Het
Scn3a	C	T	2: 65,460,713	M1896I	probably benign	Het
Snrnp200	T	C	2: 127,226,013	V810A	probably damaging	Het
Taar4	G	A	10: 23,960,741	S83N	probably damaging	Het
Tdpoz4	A	T	3: 93,797,499	T368S	probably benign	Het
Tec	T	A	5: 72,768,744	I322F	possibly damaging	Het
Teddm2	T	C	1: 153,850,400	I190V	probably benign	Het
Tmem117	A	G	15: 95,094,884	E475G	probably damaging	Het
Trip10	T	A	17: 57,262,460	Y495N	probably damaging	Het
Ush2a	T	C	1: 188,906,498	V4035A	possibly damaging	Het
Utrn	C	T	10: 12,682,318	V1466M	possibly damaging	Het
Vasp	A	G	7: 19,257,891		probably benign	Het
Vmn1r89	A	T	7: 13,219,930	M130L	possibly damaging	Het
Vmn2r2	A	T	3: 64,126,615	D495E	possibly damaging	Het
Zfp213	A	G	17: 23,561,186	V120A	possibly damaging	Het

Other mutations in Mrgprb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Mrgprb1	APN	7	48447543	missense	probably damaging	0.99
IGL01141:Mrgprb1	APN	7	48448027	missense	probably benign	0.36
IGL01393:Mrgprb1	APN	7	48448006	missense	possibly damaging	0.48
IGL02430:Mrgprb1	APN	7	48447661	missense	possibly damaging	0.95
IGL02485:Mrgprb1	APN	7	48447717	missense	possibly damaging	0.88
R0026:Mrgprb1	UTSW	7	48447204	missense	possibly damaging	0.66
R0051:Mrgprb1	UTSW	7	48447214	missense	probably benign	0.01
R0789:Mrgprb1	UTSW	7	48456184	splice site	probably benign
R1223:Mrgprb1	UTSW	7	48447687	missense	possibly damaging	0.61
R1327:Mrgprb1	UTSW	7	48447429	missense	possibly damaging	0.87
R1456:Mrgprb1	UTSW	7	48448029	missense	probably damaging	0.98
R1561:Mrgprb1	UTSW	7	48447125	splice site	probably null
R1567:Mrgprb1	UTSW	7	48447453	missense	probably damaging	0.97
R2030:Mrgprb1	UTSW	7	48447328	missense	possibly damaging	0.83
R2165:Mrgprb1	UTSW	7	48447322	missense	probably benign	0.00
R2885:Mrgprb1	UTSW	7	48447721	missense	probably damaging	1.00
R3108:Mrgprb1	UTSW	7	48447328	missense	possibly damaging	0.93
R3919:Mrgprb1	UTSW	7	48448081	missense	probably benign	0.03
R4021:Mrgprb1	UTSW	7	48447123	missense	possibly damaging	0.95
R4613:Mrgprb1	UTSW	7	48447708	missense	possibly damaging	0.91
R4809:Mrgprb1	UTSW	7	48447991	missense	possibly damaging	0.89
R5249:Mrgprb1	UTSW	7	48447477	missense	possibly damaging	0.91
R5425:Mrgprb1	UTSW	7	48447971	missense	possibly damaging	0.81
R5555:Mrgprb1	UTSW	7	48447775	missense	probably benign	0.06
R5982:Mrgprb1	UTSW	7	48447820	missense	probably benign	0.01
R6746:Mrgprb1	UTSW	7	48447897	missense	possibly damaging	0.82
R7066:Mrgprb1	UTSW	7	48447676	missense	probably benign	0.27
R7141:Mrgprb1	UTSW	7	48447687	missense	possibly damaging	0.61
R7633:Mrgprb1	UTSW	7	48447583	missense	probably benign	0.01
R8072:Mrgprb1	UTSW	7	48448147	nonsense	probably null
R8080:Mrgprb1	UTSW	7	48446910	splice site	probably null
R8112:Mrgprb1	UTSW	7	48447934	missense	probably damaging	0.97
R8493:Mrgprb1	UTSW	7	48447573	missense	probably damaging	0.99
R8817:Mrgprb1	UTSW	7	48447322	missense	probably benign	0.01
R9135:Mrgprb1	UTSW	7	48447298	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TAAGCACCAAGGCCAGACTG -3'
(R):5'- AGATGAGCAGGAATGCCTTCTC -3'

Sequencing Primer
(F):5'- GCCAGACTGGATCCCAAGAG -3'
(R):5'- GAGCAGGAATGCCTTCTCTGTCTAC -3'

Posted On

2016-10-26