Mutagenetix > Incidental Mutation

Incidental Mutation 'R1567:Mrgprb1'

175345

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb1

Ensembl Gene

ENSMUSG00000070547

Gene Name

MAS-related GPR, member B1

Synonyms

MrgB1

MMRRC Submission

039606-MU

Accession Numbers

Essential gene?

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

Stock #

R1567 (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 48447453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 237 (V237E)

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: V237E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: V237E

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: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,431,129 (GRCm38)	V155I	probably benign	Het
Actrt2	T	C	4: 154,666,914 (GRCm38)	Q255R	possibly damaging	Het
Adar	A	T	3: 89,735,781 (GRCm38)	H323L	probably benign	Het
Adgrg5	T	A	8: 94,937,698 (GRCm38)	V312E	probably damaging	Het
Anapc1	T	C	2: 128,617,716 (GRCm38)	T1808A	probably damaging	Het
Aox3	C	A	1: 58,194,693 (GRCm38)	A1285E	probably damaging	Het
Arhgap40	T	A	2: 158,546,799 (GRCm38)	L551Q	probably damaging	Het
Blk	A	G	14: 63,380,729 (GRCm38)	S243P	probably damaging	Het
Cfap206	G	T	4: 34,716,490 (GRCm38)	A325E	probably benign	Het
Cimap1b	C	A	15: 89,377,778 (GRCm38)	R137L	probably benign	Het
Cnn3	A	T	3: 121,449,958 (GRCm38)	K23*	probably null	Het
Cog8	G	A	8: 107,054,108 (GRCm38)	R173*	probably null	Het
Col11a1	G	A	3: 114,138,612 (GRCm38)	R880H	unknown	Het
Cyp2c40	T	C	19: 39,803,771 (GRCm38)	Q243R	probably null	Het
Dcbld1	A	G	10: 52,319,656 (GRCm38)	E391G	probably damaging	Het
Dchs1	C	A	7: 105,771,861 (GRCm38)	A451S	probably benign	Het
Ddx43	A	G	9: 78,416,709 (GRCm38)	K441E	probably damaging	Het
Depdc1a	A	T	3: 159,522,540 (GRCm38)	I310F	possibly damaging	Het
Dnah17	C	T	11: 118,125,985 (GRCm38)	V247M	probably damaging	Het
Dtd1	G	T	2: 144,747,025 (GRCm38)	G201V	probably damaging	Het
Eif1ad3	A	T	12: 87,876,984 (GRCm38)	I134F	unknown	Het
Enoph1	G	A	5: 100,061,025 (GRCm38)	G80S	probably benign	Het
Fam76a	A	T	4: 132,917,728 (GRCm38)	Y48*	probably null	Het
Fut9	T	G	4: 25,620,344 (GRCm38)	T157P	probably damaging	Het
Gm57859	T	A	11: 113,687,902 (GRCm38)	V41D	probably damaging	Het
Gtpbp1	T	C	15: 79,712,190 (GRCm38)	I310T	probably damaging	Het
Hk3	T	A	13: 55,006,605 (GRCm38)	I753F	probably damaging	Het
Hnrnpl	G	T	7: 28,820,183 (GRCm38)	A419S	possibly damaging	Het
Ighv5-6	T	C	12: 113,625,908 (GRCm38)		probably benign	Het
Itpkb	A	G	1: 180,421,858 (GRCm38)	T933A	probably benign	Het
Kcnn2	T	G	18: 45,670,334 (GRCm38)		probably null	Het
Klra3	G	C	6: 130,333,144 (GRCm38)	R138G	probably benign	Het
Lmcd1	C	T	6: 112,310,565 (GRCm38)	R71C	probably damaging	Het
Mybl1	T	A	1: 9,685,751 (GRCm38)	E191V	probably damaging	Het
Nbas	T	A	12: 13,285,278 (GRCm38)	F158I	possibly damaging	Het
Nbr1	C	G	11: 101,575,211 (GRCm38)	L748V	probably damaging	Het
Nlrp10	G	A	7: 108,927,050 (GRCm38)	T27M	probably benign	Het
Notch3	G	A	17: 32,158,580 (GRCm38)	T174I	possibly damaging	Het
Nup85	T	A	11: 115,568,398 (GRCm38)	I109K	possibly damaging	Het
Or10h28	A	G	17: 33,269,476 (GRCm38)	I251V	probably benign	Het
Or2b28	A	T	13: 21,347,425 (GRCm38)	I166L	probably benign	Het
Or2n1e	A	G	17: 38,275,568 (GRCm38)	I266V	possibly damaging	Het
Or4c12b	T	C	2: 89,817,184 (GRCm38)	L280P	probably damaging	Het
Or4k48	G	T	2: 111,645,926 (GRCm38)	Q24K	possibly damaging	Het
Or5b105	T	C	19: 13,102,642 (GRCm38)	T221A	probably benign	Het
Phf2	T	C	13: 48,832,113 (GRCm38)	K64E	unknown	Het
Polr2a	T	C	11: 69,746,031 (GRCm38)	T365A	probably benign	Het
Prkcd	A	G	14: 30,607,448 (GRCm38)	C12R	probably benign	Het
Ptprq	T	C	10: 107,565,887 (GRCm38)	I1915V	probably benign	Het
Rcbtb2	G	A	14: 73,162,462 (GRCm38)	V112I	probably benign	Het
Rxfp3	A	G	15: 11,036,101 (GRCm38)	V395A	probably benign	Het
Ryr2	C	A	13: 11,759,677 (GRCm38)	G1198C	possibly damaging	Het
Scn1a	T	A	2: 66,273,331 (GRCm38)	I1851F	probably damaging	Het
Selenop	A	G	15: 3,279,698 (GRCm38)	*377W	probably null	Het
Sema4a	A	T	3: 88,452,046 (GRCm38)	C113S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395 (GRCm38)	E12Q	possibly damaging	Het
Speg	T	C	1: 75,428,047 (GRCm38)	S2575P	probably benign	Het
Stk24	T	A	14: 121,308,056 (GRCm38)	I97L	probably benign	Het
Tap2	A	G	17: 34,214,091 (GRCm38)	K449R	probably benign	Het
Tecpr2	T	A	12: 110,941,596 (GRCm38)		probably null	Het
Ttn	T	A	2: 76,897,611 (GRCm38)		probably benign	Het
Uggt2	A	G	14: 119,009,093 (GRCm38)	F1204L	possibly damaging	Het
Ugt2b36	T	C	5: 87,092,399 (GRCm38)	I42M	probably damaging	Het
Zdhhc8	A	G	16: 18,227,120 (GRCm38)	L274P	probably benign	Het
Zfp974	C	A	7: 27,910,723 (GRCm38)	D526Y	probably damaging	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
R1456:Mrgprb1	UTSW	7	48,448,029 (GRCm38)	missense	probably damaging	0.98
R1561:Mrgprb1	UTSW	7	48,447,125 (GRCm38)	splice site	probably null
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

PCR Primer
(F):5'- AGCTTGAGAGTCTTCCGTTGAAACC -3'
(R):5'- ACTGTCATTAGCACTGAACGCTTCC -3'

Sequencing Primer
(F):5'- TTGAAACCGATGGTGCCTAATG -3'
(R):5'- AGCACTGAACGCTTCCTATCTG -3'

Posted On

2014-04-24