Mutagenetix > Incidental Mutation

Incidental Mutation 'R1561:Mrgprb1'

170609

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb1

Ensembl Gene

ENSMUSG00000070547

Gene Name

MAS-related GPR, member B1

Synonyms

MrgB1

MMRRC Submission

039600-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R1561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48093861-48106090 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to G at 48096873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140432 (fasta)

Gene Model

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

AlphaFold

Q3UG61

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094384
AA Change: L346F

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: L346F

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

possibly damaging
Transcript: ENSMUST00000188095
AA Change: L53F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably null
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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,184,431 (GRCm39)	N69D	probably benign	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Ap1g2	T	C	14: 55,342,344 (GRCm39)	E171G	probably damaging	Het
Atg7	T	C	6: 114,678,133 (GRCm39)	V341A	possibly damaging	Het
Bace1	G	T	9: 45,750,492 (GRCm39)	R56L	probably benign	Het
Cd200l1	A	G	16: 45,262,875 (GRCm39)	V88A	possibly damaging	Het
Chfr	A	T	5: 110,306,674 (GRCm39)	D472V	probably benign	Het
Ckap2l	G	A	2: 129,112,645 (GRCm39)	T621I	probably benign	Het
Cmip	A	G	8: 118,180,589 (GRCm39)	T554A	probably benign	Het
Crocc	C	T	4: 140,757,579 (GRCm39)	E905K	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
F5	C	A	1: 164,014,472 (GRCm39)	S581*	probably null	Het
Fam227a	T	A	15: 79,520,963 (GRCm39)	Y291F	possibly damaging	Het
Gpr151	A	T	18: 42,712,221 (GRCm39)	S152R	probably benign	Het
Gpr158	A	T	2: 21,820,505 (GRCm39)		probably null	Het
Kcna5	T	C	6: 126,511,546 (GRCm39)	Y194C	probably damaging	Het
Khsrp	A	G	17: 57,332,639 (GRCm39)	S214P	probably benign	Het
Mrnip	C	T	11: 50,067,676 (GRCm39)	T30I	probably damaging	Het
Mtus2	A	C	5: 148,013,362 (GRCm39)	K52Q	probably benign	Het
Naca	G	T	10: 127,876,267 (GRCm39)		probably benign	Het
Obscn	T	G	11: 58,926,899 (GRCm39)	T5539P	probably damaging	Het
Or13p3	T	A	4: 118,566,751 (GRCm39)	I49N	probably damaging	Het
Or9m1	C	T	2: 87,733,505 (GRCm39)	V172I	probably benign	Het
Ovca2	A	G	11: 75,068,805 (GRCm39)	L198P	probably damaging	Het
Pdzrn4	T	C	15: 92,575,518 (GRCm39)	V308A	possibly damaging	Het
Pkd1l3	A	G	8: 110,341,445 (GRCm39)	I99M	unknown	Het
Polr3b	T	A	10: 84,470,776 (GRCm39)	M139K	probably damaging	Het
Prkag2	T	C	5: 25,076,593 (GRCm39)	Y191C	probably damaging	Het
Prss47	A	T	13: 65,194,062 (GRCm39)	C278S	probably damaging	Het
Ptprm	T	C	17: 67,247,536 (GRCm39)	T600A	probably damaging	Het
Ruvbl1	T	C	6: 88,456,136 (GRCm39)	V70A	probably damaging	Het
Sf3a1	T	C	11: 4,129,217 (GRCm39)	V726A	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc26a3	A	G	12: 31,516,451 (GRCm39)	N603S	probably benign	Het
Slc2a1	A	G	4: 118,993,606 (GRCm39)	E481G	possibly damaging	Het
Slc35a5	A	C	16: 44,971,884 (GRCm39)	S127A	possibly damaging	Het
Spen	C	A	4: 141,199,694 (GRCm39)	G2978*	probably null	Het
Srrt	T	A	5: 137,298,281 (GRCm39)	E297V	probably benign	Het
Srsf4	T	A	4: 131,625,006 (GRCm39)	D134E	probably damaging	Het
Tdrd6	G	A	17: 43,936,515 (GRCm39)	S1511L	probably damaging	Het
Tmem65	T	A	15: 58,694,707 (GRCm39)	I91F	probably benign	Het
Top2b	A	G	14: 16,398,993 (GRCm38)	K538E	possibly damaging	Het
Trappc8	G	A	18: 20,974,680 (GRCm39)	R883*	probably null	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Vav3	T	C	3: 109,402,154 (GRCm39)		probably null	Het
Vmn1r42	C	T	6: 89,822,363 (GRCm39)	G69S	probably damaging	Het
Zan	A	T	5: 137,379,100 (GRCm39)	Y5333*	probably null	Het
Zfp994	A	C	17: 22,420,206 (GRCm39)	F248V	probably damaging	Het

Other mutations in Mrgprb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Mrgprb1	APN	7	48,097,291 (GRCm39)	missense	probably damaging	0.99
IGL01141:Mrgprb1	APN	7	48,097,775 (GRCm39)	missense	probably benign	0.36
IGL01393:Mrgprb1	APN	7	48,097,754 (GRCm39)	missense	possibly damaging	0.48
IGL02430:Mrgprb1	APN	7	48,097,409 (GRCm39)	missense	possibly damaging	0.95
IGL02485:Mrgprb1	APN	7	48,097,465 (GRCm39)	missense	possibly damaging	0.88
R0026:Mrgprb1	UTSW	7	48,096,952 (GRCm39)	missense	possibly damaging	0.66
R0051:Mrgprb1	UTSW	7	48,096,962 (GRCm39)	missense	probably benign	0.01
R0789:Mrgprb1	UTSW	7	48,105,932 (GRCm39)	splice site	probably benign
R1223:Mrgprb1	UTSW	7	48,097,435 (GRCm39)	missense	possibly damaging	0.61
R1327:Mrgprb1	UTSW	7	48,097,177 (GRCm39)	missense	possibly damaging	0.87
R1456:Mrgprb1	UTSW	7	48,097,777 (GRCm39)	missense	probably damaging	0.98
R1567:Mrgprb1	UTSW	7	48,097,201 (GRCm39)	missense	probably damaging	0.97
R2030:Mrgprb1	UTSW	7	48,097,076 (GRCm39)	missense	possibly damaging	0.83
R2165:Mrgprb1	UTSW	7	48,097,070 (GRCm39)	missense	probably benign	0.00
R2885:Mrgprb1	UTSW	7	48,097,469 (GRCm39)	missense	probably damaging	1.00
R3108:Mrgprb1	UTSW	7	48,097,076 (GRCm39)	missense	possibly damaging	0.93
R3919:Mrgprb1	UTSW	7	48,097,829 (GRCm39)	missense	probably benign	0.03
R4021:Mrgprb1	UTSW	7	48,096,871 (GRCm39)	missense	possibly damaging	0.95
R4613:Mrgprb1	UTSW	7	48,097,456 (GRCm39)	missense	possibly damaging	0.91
R4809:Mrgprb1	UTSW	7	48,097,739 (GRCm39)	missense	possibly damaging	0.89
R5249:Mrgprb1	UTSW	7	48,097,225 (GRCm39)	missense	possibly damaging	0.91
R5425:Mrgprb1	UTSW	7	48,097,719 (GRCm39)	missense	possibly damaging	0.81
R5555:Mrgprb1	UTSW	7	48,097,523 (GRCm39)	missense	probably benign	0.06
R5595:Mrgprb1	UTSW	7	48,097,432 (GRCm39)	missense	probably damaging	0.99
R5982:Mrgprb1	UTSW	7	48,097,568 (GRCm39)	missense	probably benign	0.01
R6746:Mrgprb1	UTSW	7	48,097,645 (GRCm39)	missense	possibly damaging	0.82
R7066:Mrgprb1	UTSW	7	48,097,424 (GRCm39)	missense	probably benign	0.27
R7141:Mrgprb1	UTSW	7	48,097,435 (GRCm39)	missense	possibly damaging	0.61
R7633:Mrgprb1	UTSW	7	48,097,331 (GRCm39)	missense	probably benign	0.01
R8072:Mrgprb1	UTSW	7	48,097,895 (GRCm39)	nonsense	probably null
R8080:Mrgprb1	UTSW	7	48,096,658 (GRCm39)	splice site	probably null
R8112:Mrgprb1	UTSW	7	48,097,682 (GRCm39)	missense	probably damaging	0.97
R8493:Mrgprb1	UTSW	7	48,097,321 (GRCm39)	missense	probably damaging	0.99
R8817:Mrgprb1	UTSW	7	48,097,070 (GRCm39)	missense	probably benign	0.01
R9135:Mrgprb1	UTSW	7	48,097,046 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGTCAATTGTGGTCAACACCTCTCC -3'
(R):5'- GCTCCATTAGGCACCATCGGTTTC -3'

Sequencing Primer
(F):5'- GCTCTGAGCAAGATAGCTGC -3'
(R):5'- TCGGTTTCAACGGAAGACTC -3'

Posted On

2014-04-13