Mutagenetix > Incidental Mutation

Incidental Mutation 'R1456:Mrgprb1'

161783

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb1

Ensembl Gene

ENSMUSG00000070547

Gene Name

MAS-related GPR, member B1

Synonyms

MrgB1

MMRRC Submission

039511-MU

Accession Numbers

Essential gene?

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

Stock #

R1456 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48444113-48456342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48448029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 45 (M45K)

Ref Sequence

ENSEMBL: ENSMUSP00000140432 (fasta)

Gene Model

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

AlphaFold

Q3UG61

Predicted Effect

probably benign
Transcript: ENSMUST00000094384
AA Change: M45K

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: M45K

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 damaging
Transcript: ENSMUST00000188918
AA Change: M45K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140432
Gene: ENSMUSG00000070547
AA Change: M45K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.9%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,480,920 (GRCm38)		probably null	Het
4930563D23Rik	T	A	16: 92,320,665 (GRCm38)	Y245F	probably damaging	Het
4932414N04Rik	A	T	2: 68,716,214 (GRCm38)	E80V	possibly damaging	Het
Alkbh3	A	G	2: 94,001,419 (GRCm38)		probably null	Het
Ankar	A	T	1: 72,665,118 (GRCm38)	Y664N	probably benign	Het
Arhgap18	T	C	10: 26,916,440 (GRCm38)	I629T	probably benign	Het
Arhgef28	C	T	13: 98,075,002 (GRCm38)	E158K	probably benign	Het
Asxl2	C	T	12: 3,501,872 (GRCm38)	H1205Y	possibly damaging	Het
Birc6	A	G	17: 74,609,290 (GRCm38)	I427V	probably benign	Het
Camk4	A	G	18: 33,129,843 (GRCm38)		probably benign	Het
Ccdc178	A	T	18: 22,150,424 (GRCm38)	D16E	possibly damaging	Het
Cct6b	G	T	11: 82,753,620 (GRCm38)		probably benign	Het
Ccz1	A	G	5: 144,011,018 (GRCm38)		probably benign	Het
Cdh23	T	C	10: 60,487,120 (GRCm38)	N335S	possibly damaging	Het
Cemip	T	A	7: 83,998,510 (GRCm38)	S121C	possibly damaging	Het
Cers1	A	G	8: 70,331,188 (GRCm38)	E262G	probably damaging	Het
Clec11a	G	T	7: 44,306,450 (GRCm38)	P58T	possibly damaging	Het
Clec16a	T	C	16: 10,691,555 (GRCm38)	I797T	probably damaging	Het
Col4a1	A	C	8: 11,242,829 (GRCm38)		probably benign	Het
Colgalt2	G	A	1: 152,484,904 (GRCm38)	V231I	probably damaging	Het
D430041D05Rik	G	T	2: 104,208,083 (GRCm38)	N1580K	probably damaging	Het
Dcdc5	A	G	2: 106,351,565 (GRCm38)		noncoding transcript	Het
Ddx17	T	C	15: 79,530,376 (GRCm38)	D530G	probably benign	Het
Dhx9	A	T	1: 153,465,695 (GRCm38)	D601E	probably benign	Het
Dnah3	A	G	7: 120,047,630 (GRCm38)	Y1059H	probably damaging	Het
Dtx1	C	A	5: 120,710,504 (GRCm38)		probably benign	Het
Egfr	A	G	11: 16,863,065 (GRCm38)	S182G	probably benign	Het
Fads1	A	G	19: 10,185,752 (GRCm38)	N131S	probably benign	Het
Fancm	C	T	12: 65,118,351 (GRCm38)	A1490V	possibly damaging	Het
Fsd2	C	A	7: 81,559,591 (GRCm38)	E168*	probably null	Het
Gm20388	T	C	8: 122,841,948 (GRCm38)		probably benign	Het
Gm9772	A	T	17: 22,007,118 (GRCm38)	C62S	probably damaging	Het
H60c	C	T	10: 3,260,307 (GRCm38)	A81T	possibly damaging	Het
Hira	T	G	16: 18,925,663 (GRCm38)	S377A	probably benign	Het
Iffo1	T	C	6: 125,145,914 (GRCm38)	S220P	possibly damaging	Het
Itih4	A	G	14: 30,892,653 (GRCm38)	M491V	probably benign	Het
Khdrbs2	T	C	1: 32,520,696 (GRCm38)	R102G	possibly damaging	Het
Klhdc7a	T	G	4: 139,965,524 (GRCm38)	Y704S	possibly damaging	Het
Klk1b21	G	A	7: 44,105,499 (GRCm38)	V73I	probably benign	Het
Krt42	C	T	11: 100,269,610 (GRCm38)	A88T	probably benign	Het
Krt42	G	A	11: 100,269,609 (GRCm38)	A88V	probably benign	Het
Limk1	G	T	5: 134,657,510 (GRCm38)	D580E	probably benign	Het
Lipk	C	T	19: 34,046,785 (GRCm38)	P323S	probably damaging	Het
Lipo5	T	A	19: 33,465,873 (GRCm38)		probably benign	Het
Llgl2	A	G	11: 115,845,499 (GRCm38)	D166G	probably benign	Het
Mapk8ip3	A	T	17: 24,906,949 (GRCm38)	N439K	probably damaging	Het
Mapkbp1	C	T	2: 119,973,145 (GRCm38)	R32W	probably damaging	Het
Med23	T	A	10: 24,903,652 (GRCm38)		probably benign	Het
Mroh7	G	A	4: 106,695,141 (GRCm38)		probably benign	Het
Mrpl27	G	A	11: 94,653,833 (GRCm38)		probably benign	Het
Ms4a10	T	A	19: 10,964,733 (GRCm38)	T175S	possibly damaging	Het
Muc3	T	C	5: 137,137,951 (GRCm38)	H330R	probably benign	Het
Myo15	A	T	11: 60,508,202 (GRCm38)	I2787F	probably damaging	Het
Ndst1	A	G	18: 60,713,205 (GRCm38)	C11R	possibly damaging	Het
Obsl1	C	A	1: 75,487,656 (GRCm38)	G1669*	probably null	Het
Olfr477	A	G	7: 107,990,398 (GRCm38)	E11G	probably benign	Het
Olfr784	A	T	10: 129,387,783 (GRCm38)	D50V	probably damaging	Het
Olfr873	T	C	9: 20,300,838 (GRCm38)	Y214H	probably benign	Het
Pafah2	T	A	4: 134,404,157 (GRCm38)	I52N	probably damaging	Het
Pcsk6	A	T	7: 66,043,535 (GRCm38)	I693F	possibly damaging	Het
Pde4c	G	T	8: 70,746,613 (GRCm38)	R228L	probably benign	Het
Pdzd8	T	C	19: 59,300,472 (GRCm38)	N832S	probably benign	Het
Plbd1	T	A	6: 136,613,816 (GRCm38)	M451L	probably benign	Het
Pramef17	G	T	4: 143,993,281 (GRCm38)	D171E	probably benign	Het
Prom1	T	C	5: 44,037,623 (GRCm38)	D260G	probably damaging	Het
Ranbp17	A	G	11: 33,266,310 (GRCm38)	S813P	probably damaging	Het
Scn10a	T	C	9: 119,691,478 (GRCm38)	I119V	probably benign	Het
Sh3pxd2b	A	G	11: 32,415,967 (GRCm38)	T353A	probably damaging	Het
Shq1	A	T	6: 100,669,698 (GRCm38)		probably null	Het
Slc22a28	T	A	19: 8,071,858 (GRCm38)	H342L	possibly damaging	Het
Slco2b1	C	T	7: 99,664,907 (GRCm38)	E9K	probably null	Het
Specc1l	T	C	10: 75,246,284 (GRCm38)	F505L	probably damaging	Het
Sptan1	G	T	2: 29,980,203 (GRCm38)		probably null	Het
St6gal2	A	G	17: 55,490,931 (GRCm38)		probably benign	Het
Taok2	T	C	7: 126,880,141 (GRCm38)	I73V	probably benign	Het
Tax1bp1	C	T	6: 52,744,244 (GRCm38)	T478I	probably benign	Het
Tbc1d4	A	T	14: 101,507,106 (GRCm38)	N361K	probably damaging	Het
Tph1	A	T	7: 46,647,483 (GRCm38)	Y429*	probably null	Het
Tprkb	A	T	6: 85,924,421 (GRCm38)	R14W	probably damaging	Het
Trio	A	T	15: 27,753,804 (GRCm38)		probably benign	Het
Ttc23	T	C	7: 67,667,154 (GRCm38)		probably benign	Het
Vmn1r211	T	C	13: 22,852,245 (GRCm38)	Y84C	probably damaging	Het
Vmn2r22	C	G	6: 123,637,665 (GRCm38)	G322A	possibly damaging	Het
Wdr74	A	G	19: 8,740,412 (GRCm38)	Q330R	probably benign	Het
Wdtc1	C	A	4: 133,297,428 (GRCm38)	S486I	possibly damaging	Het
Zbtb24	T	C	10: 41,464,993 (GRCm38)	V673A	possibly damaging	Het
Zfpm2	A	T	15: 41,102,481 (GRCm38)	R655S	probably damaging	Het
Zkscan5	A	G	5: 145,220,988 (GRCm38)	N694D	probably benign	Het

Other mutations in Mrgprb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Mrgprb1	APN	7	48,447,543 (GRCm38)	missense	probably damaging	0.99
IGL01141:Mrgprb1	APN	7	48,448,027 (GRCm38)	missense	probably benign	0.36
IGL01393:Mrgprb1	APN	7	48,448,006 (GRCm38)	missense	possibly damaging	0.48
IGL02430:Mrgprb1	APN	7	48,447,661 (GRCm38)	missense	possibly damaging	0.95
IGL02485:Mrgprb1	APN	7	48,447,717 (GRCm38)	missense	possibly damaging	0.88
R0026:Mrgprb1	UTSW	7	48,447,204 (GRCm38)	missense	possibly damaging	0.66
R0051:Mrgprb1	UTSW	7	48,447,214 (GRCm38)	missense	probably benign	0.01
R0789:Mrgprb1	UTSW	7	48,456,184 (GRCm38)	splice site	probably benign
R1223:Mrgprb1	UTSW	7	48,447,687 (GRCm38)	missense	possibly damaging	0.61
R1327:Mrgprb1	UTSW	7	48,447,429 (GRCm38)	missense	possibly damaging	0.87
R1561:Mrgprb1	UTSW	7	48,447,125 (GRCm38)	splice site	probably null
R1567:Mrgprb1	UTSW	7	48,447,453 (GRCm38)	missense	probably damaging	0.97
R2030:Mrgprb1	UTSW	7	48,447,328 (GRCm38)	missense	possibly damaging	0.83
R2165:Mrgprb1	UTSW	7	48,447,322 (GRCm38)	missense	probably benign	0.00
R2885:Mrgprb1	UTSW	7	48,447,721 (GRCm38)	missense	probably damaging	1.00
R3108:Mrgprb1	UTSW	7	48,447,328 (GRCm38)	missense	possibly damaging	0.93
R3919:Mrgprb1	UTSW	7	48,448,081 (GRCm38)	missense	probably benign	0.03
R4021:Mrgprb1	UTSW	7	48,447,123 (GRCm38)	missense	possibly damaging	0.95
R4613:Mrgprb1	UTSW	7	48,447,708 (GRCm38)	missense	possibly damaging	0.91
R4809:Mrgprb1	UTSW	7	48,447,991 (GRCm38)	missense	possibly damaging	0.89
R5249:Mrgprb1	UTSW	7	48,447,477 (GRCm38)	missense	possibly damaging	0.91
R5425:Mrgprb1	UTSW	7	48,447,971 (GRCm38)	missense	possibly damaging	0.81
R5555:Mrgprb1	UTSW	7	48,447,775 (GRCm38)	missense	probably benign	0.06
R5595:Mrgprb1	UTSW	7	48,447,684 (GRCm38)	missense	probably damaging	0.99
R5982:Mrgprb1	UTSW	7	48,447,820 (GRCm38)	missense	probably benign	0.01
R6746:Mrgprb1	UTSW	7	48,447,897 (GRCm38)	missense	possibly damaging	0.82
R7066:Mrgprb1	UTSW	7	48,447,676 (GRCm38)	missense	probably benign	0.27
R7141:Mrgprb1	UTSW	7	48,447,687 (GRCm38)	missense	possibly damaging	0.61
R7633:Mrgprb1	UTSW	7	48,447,583 (GRCm38)	missense	probably benign	0.01
R8072:Mrgprb1	UTSW	7	48,448,147 (GRCm38)	nonsense	probably null
R8080:Mrgprb1	UTSW	7	48,446,910 (GRCm38)	splice site	probably null
R8112:Mrgprb1	UTSW	7	48,447,934 (GRCm38)	missense	probably damaging	0.97
R8493:Mrgprb1	UTSW	7	48,447,573 (GRCm38)	missense	probably damaging	0.99
R8817:Mrgprb1	UTSW	7	48,447,322 (GRCm38)	missense	probably benign	0.01
R9135:Mrgprb1	UTSW	7	48,447,298 (GRCm38)	missense	possibly damaging	0.95

Predicted Primers

Posted On

2014-03-14