Mutagenetix > Incidental Mutations

Incidental Mutation 'R5555:Mrgprb1'

435336

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb1

Ensembl Gene

ENSMUSG00000070547

Gene Name

MAS-related GPR, member B1

Synonyms

MrgB1

MMRRC Submission

043112-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5555 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48444113-48456342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48447775 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 130 (I130F)

Ref Sequence

ENSEMBL: ENSMUSP00000091946 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094384
AA Change: I130F

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: I130F

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: 98.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	A	5: 9,422,296		probably null	Het
Atg7	T	C	6: 114,702,053	V366A	probably damaging	Het
Cadm2	A	T	16: 66,784,815	V192E	probably damaging	Het
Chil6	C	T	3: 106,389,952	S291N	possibly damaging	Het
D7Ertd443e	T	C	7: 134,349,591	T118A	probably benign	Het
Dennd4b	G	A	3: 90,268,368	R148Q	probably damaging	Het
Dnah1	T	A	14: 31,290,819	T1837S	probably damaging	Het
Ext1	A	G	15: 53,088,143	V515A	probably damaging	Het
Fer1l4	T	C	2: 156,048,189	E272G	probably damaging	Het
Fras1	T	A	5: 96,677,377	H1475Q	probably benign	Het
Grid1	T	C	14: 35,520,705	S672P	possibly damaging	Het
Gtpbp4	A	G	13: 8,979,427		probably null	Het
Hsp90aa1	A	T	12: 110,692,734	V543E	probably damaging	Het
Irf5	T	C	6: 29,531,146	S4P	probably benign	Het
Kif2b	G	T	11: 91,575,460	Q666K	probably benign	Het
Macc1	A	T	12: 119,450,375	H762L	probably benign	Het
Map1s	C	T	8: 70,917,107	T941M	probably damaging	Het
Nbeal1	T	G	1: 60,237,152	V684G	possibly damaging	Het
Ngly1	C	T	14: 16,270,508	Q173*	probably null	Het
Plcb3	A	T	19: 6,966,219	M104K	probably benign	Het
Plcg2	T	A	8: 117,612,995	Y1048*	probably null	Het
Ptprf	T	C	4: 118,224,924	Y1039C	probably damaging	Het
Rab38	A	G	7: 88,430,487	Y29C	probably damaging	Het
Rcan2	T	A	17: 44,037,030	V210E	probably damaging	Het
Rptn	A	T	3: 93,396,701	Q447L	probably benign	Het
Scel	G	A	14: 103,602,206	R495K	probably benign	Het
Scn11a	G	T	9: 119,755,238	P1437Q	probably damaging	Het
Sim2	A	G	16: 94,109,456	D239G	probably damaging	Het
Skap2	A	G	6: 51,860,018	Y356H	probably damaging	Het
Skint11	A	G	4: 114,194,601	T49A	probably benign	Het
Snx33	G	A	9: 56,925,397	H463Y	probably benign	Het
Steap2	T	C	5: 5,677,544	T264A	possibly damaging	Het
Stk40	T	A	4: 126,135,059	V238E	probably damaging	Het
Sun2	T	C	15: 79,734,127	D277G	probably benign	Het
Ttll9	T	C	2: 152,990,100		probably null	Het
Vmn1r54	G	A	6: 90,269,365	C87Y	probably benign	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
R5595:Mrgprb1	UTSW	7	48447684	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- GTCTTACACAAACCAGGGCC -3'
(R):5'- TGGAAATGCCACAGTGTTATGG -3'

Sequencing Primer
(F):5'- CCAGGGCCACTAGTGTAATATAG -3'
(R):5'- TTCCAGATGAGCAGGAATGCCTTC -3'

Posted On

2016-10-24