Mutagenetix > Incidental Mutation

Incidental Mutation 'R3953:Mrgprb2'

308047

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb2

Ensembl Gene

ENSMUSG00000050425

Gene Name

MAS-related GPR, member B2

Synonyms

4833406I20Rik

MMRRC Submission

040830-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3953 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48200713-48207834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48202116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 203 (G203D)

Ref Sequence

ENSEMBL: ENSMUSP00000061878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052730]

AlphaFold

Q3KNA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052730
AA Change: G203D

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061878
Gene: ENSMUSG00000050425
AA Change: G203D

Domain	Start	End	E-Value	Type
Pfam:7tm_1	54	286	2.1e-7	PFAM
low complexity region	293	308	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired mast cell activation and inflammatory response after 48/80 treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Adgrf1	A	G	17: 43,621,098 (GRCm39)	N445S	probably benign	Het
Aldh7a1	C	A	18: 56,681,577 (GRCm39)	V198L	probably damaging	Het
Ank2	A	T	3: 126,781,809 (GRCm39)	D6E	probably damaging	Het
Arhgap31	A	G	16: 38,423,826 (GRCm39)	F747L	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cadps	T	C	14: 12,505,937 (GRCm38)	D711G	probably damaging	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Cyp4f18	C	T	8: 72,754,801 (GRCm39)	R148H	probably damaging	Het
Dennd4a	C	A	9: 64,759,857 (GRCm39)	P321T	probably damaging	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	G	A	11: 69,344,929 (GRCm39)	T2715M	probably damaging	Het
Evc2	T	C	5: 37,537,931 (GRCm39)		probably null	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gucy1a2	T	C	9: 3,582,704 (GRCm39)		probably benign	Het
Gys1	C	T	7: 45,089,470 (GRCm39)	P274S	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Herc1	C	T	9: 66,341,075 (GRCm39)	Q1731*	probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lnx1	T	C	5: 74,766,750 (GRCm39)	T455A	probably benign	Het
Mast2	A	T	4: 116,170,926 (GRCm39)	H612Q	probably damaging	Het
Mcm9	G	A	10: 53,439,440 (GRCm39)	H578Y	probably damaging	Het
Mefv	A	G	16: 3,533,264 (GRCm39)	S336P	possibly damaging	Het
Micu1	A	T	10: 59,586,326 (GRCm39)	H134L	probably benign	Het
Ncapd2	T	C	6: 125,147,697 (GRCm39)	I1179V	probably damaging	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5b119	G	A	19: 13,456,806 (GRCm39)	S252L	probably benign	Het
Pcnx3	A	G	19: 5,733,808 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,103,145 (GRCm39)		probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptprb	A	G	10: 116,177,399 (GRCm39)	N1320S	probably benign	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Robo1	A	G	16: 72,821,226 (GRCm39)	D1331G	probably damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Slc44a5	A	G	3: 153,877,209 (GRCm39)	D13G	probably benign	Het
Slco1a1	A	T	6: 141,868,833 (GRCm39)	M377K	probably damaging	Het
St18	T	A	1: 6,873,117 (GRCm39)	L284Q	probably damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tln2	G	A	9: 67,277,911 (GRCm39)	P368S	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Tmf1	C	A	6: 97,153,167 (GRCm39)	R302L	probably damaging	Het
Tnip3	A	T	6: 65,574,379 (GRCm39)	T137S	possibly damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Vps13d	A	G	4: 144,875,450 (GRCm39)	S1686P	probably damaging	Het
Wdr41	A	G	13: 95,133,571 (GRCm39)	E75G	probably damaging	Het

Other mutations in Mrgprb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Mrgprb2	APN	7	48,201,746 (GRCm39)	missense	probably benign	0.29
IGL01509:Mrgprb2	APN	7	48,202,674 (GRCm39)	missense	possibly damaging	0.70
IGL01978:Mrgprb2	APN	7	48,202,312 (GRCm39)	missense	probably damaging	0.98
IGL02307:Mrgprb2	APN	7	48,202,644 (GRCm39)	missense	probably benign	0.01
IGL02726:Mrgprb2	APN	7	48,202,618 (GRCm39)	missense	probably damaging	0.97
IGL03393:Mrgprb2	APN	7	48,202,650 (GRCm39)	missense	probably benign	0.13
R0190:Mrgprb2	UTSW	7	48,202,525 (GRCm39)	missense	possibly damaging	0.95
R0334:Mrgprb2	UTSW	7	48,202,077 (GRCm39)	missense	probably damaging	1.00
R0514:Mrgprb2	UTSW	7	48,201,718 (GRCm39)	missense	probably benign	0.05
R2177:Mrgprb2	UTSW	7	48,202,128 (GRCm39)	missense	probably benign	0.11
R2932:Mrgprb2	UTSW	7	48,202,194 (GRCm39)	missense	probably benign	0.17
R3417:Mrgprb2	UTSW	7	48,202,281 (GRCm39)	missense	probably damaging	0.98
R5673:Mrgprb2	UTSW	7	48,202,121 (GRCm39)	missense	probably benign	0.00
R5733:Mrgprb2	UTSW	7	48,202,261 (GRCm39)	missense	probably benign	0.01
R5890:Mrgprb2	UTSW	7	48,201,707 (GRCm39)	makesense	probably null
R5915:Mrgprb2	UTSW	7	48,202,554 (GRCm39)	missense	probably benign	0.14
R6147:Mrgprb2	UTSW	7	48,202,113 (GRCm39)	missense	possibly damaging	0.64
R6381:Mrgprb2	UTSW	7	48,202,138 (GRCm39)	missense	probably benign	0.01
R6414:Mrgprb2	UTSW	7	48,202,129 (GRCm39)	missense	probably benign	0.01
R6965:Mrgprb2	UTSW	7	48,202,597 (GRCm39)	missense	probably damaging	0.97
R7017:Mrgprb2	UTSW	7	48,202,585 (GRCm39)	missense	probably benign	0.08
R7341:Mrgprb2	UTSW	7	48,202,644 (GRCm39)	missense	probably benign	0.01
R7399:Mrgprb2	UTSW	7	48,201,890 (GRCm39)	missense	probably damaging	1.00
R8168:Mrgprb2	UTSW	7	48,201,767 (GRCm39)	missense	probably benign	0.26
R8189:Mrgprb2	UTSW	7	48,202,502 (GRCm39)	nonsense	probably null
R8738:Mrgprb2	UTSW	7	48,202,648 (GRCm39)	missense	probably benign	0.04
R9160:Mrgprb2	UTSW	7	48,201,982 (GRCm39)	missense	possibly damaging	0.82
R9210:Mrgprb2	UTSW	7	48,202,392 (GRCm39)	missense	possibly damaging	0.91
R9212:Mrgprb2	UTSW	7	48,202,392 (GRCm39)	missense	possibly damaging	0.91
R9308:Mrgprb2	UTSW	7	48,202,655 (GRCm39)	missense	possibly damaging	0.86
R9562:Mrgprb2	UTSW	7	48,202,674 (GRCm39)	missense	possibly damaging	0.70
R9565:Mrgprb2	UTSW	7	48,202,674 (GRCm39)	missense	possibly damaging	0.70
R9763:Mrgprb2	UTSW	7	48,202,174 (GRCm39)	missense	probably benign	0.00
Z1177:Mrgprb2	UTSW	7	48,202,721 (GRCm39)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- GGGGTTCATACAGCTGTTAACAC -3'
(R):5'- TCGCTGTAAACGTCCAAGAC -3'

Sequencing Primer
(F):5'- ACACAGGATAGGAATAGTATCTCAAG -3'
(R):5'- CACACATCAGCTATCACATGTTTTG -3'

Posted On

2015-04-17