Mutagenetix > Incidental Mutations

Incidental Mutation 'R2932:Mrgprb2'

254971

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb2

Ensembl Gene

ENSMUSG00000050425

Gene Name

MAS-related GPR, member B2

Synonyms

4833406I20Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R2932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48550965-48558086 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48552446 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 177 (L177S)

Ref Sequence

ENSEMBL: ENSMUSP00000061878 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000052730
AA Change: L177S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000061878
Gene: ENSMUSG00000050425
AA Change: L177S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,620,562	D1259G	possibly damaging	Het
Arpp21	T	C	9: 112,179,105	D106G	probably damaging	Het
Atp6v1a	A	G	16: 44,089,043	S542P	probably benign	Het
Ccar1	T	C	10: 62,776,759	N209S	probably benign	Het
Ccdc15	G	A	9: 37,315,658	T327I	probably benign	Het
Dhx15	G	A	5: 52,166,732	P406L	probably benign	Het
Fat3	G	A	9: 16,375,944	S761L	probably damaging	Het
Lor	AGCCGCCGCCGCCGCCGCCGCCGCCGCC	AGCCGCCGCCGCCGCCGCCGCCGCC	3: 92,081,878		probably benign	Het
Lrrc1	T	A	9: 77,457,439	H153L	probably benign	Het
Lrrc46	T	C	11: 97,041,109		probably benign	Het
Mtmr2	A	T	9: 13,749,117		probably benign	Het
Mtnr1b	A	T	9: 15,874,324	V46E	probably damaging	Het
Myo5a	A	G	9: 75,196,136	E207G	possibly damaging	Het
Nalcn	A	G	14: 123,593,018	S137P	probably benign	Het
Nipal1	A	G	5: 72,667,635	I224V	possibly damaging	Het
Oas1g	T	G	5: 120,879,143	K283Q	probably benign	Het
Pex12	T	A	11: 83,296,223	M300L	probably benign	Het
Phldb2	A	G	16: 45,748,785	V1237A	possibly damaging	Het
Rc3h2	C	A	2: 37,378,359	V920F	probably benign	Het
Ulk1	C	T	5: 110,789,357	R691Q	probably benign	Het

Other mutations in Mrgprb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Mrgprb2	APN	7	48551998	missense	probably benign	0.29
IGL01509:Mrgprb2	APN	7	48552926	missense	possibly damaging	0.70
IGL01978:Mrgprb2	APN	7	48552564	missense	probably damaging	0.98
IGL02307:Mrgprb2	APN	7	48552896	missense	probably benign	0.01
IGL02726:Mrgprb2	APN	7	48552870	missense	probably damaging	0.97
IGL03393:Mrgprb2	APN	7	48552902	missense	probably benign	0.13
R0190:Mrgprb2	UTSW	7	48552777	missense	possibly damaging	0.95
R0334:Mrgprb2	UTSW	7	48552329	missense	probably damaging	1.00
R0514:Mrgprb2	UTSW	7	48551970	missense	probably benign	0.05
R2177:Mrgprb2	UTSW	7	48552380	missense	probably benign	0.11
R3417:Mrgprb2	UTSW	7	48552533	missense	probably damaging	0.98
R3953:Mrgprb2	UTSW	7	48552368	missense	possibly damaging	0.78
R5673:Mrgprb2	UTSW	7	48552373	missense	probably benign	0.00
R5733:Mrgprb2	UTSW	7	48552513	missense	probably benign	0.01
R5890:Mrgprb2	UTSW	7	48551959	makesense	probably null
R5915:Mrgprb2	UTSW	7	48552806	missense	probably benign	0.14
R6147:Mrgprb2	UTSW	7	48552365	missense	possibly damaging	0.64
R6381:Mrgprb2	UTSW	7	48552390	missense	probably benign	0.01
R6414:Mrgprb2	UTSW	7	48552381	missense	probably benign	0.01
R6965:Mrgprb2	UTSW	7	48552849	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GAGTATCCAATAGATCCCAAAGGG -3'
(R):5'- TGCTTATCTTTCAGGTCTGAGC -3'

Sequencing Primer
(F):5'- ACCAAGACTGTGAGTGTAATAGTC -3'
(R):5'- GAGCATTCTCAGCACCATTAGCATTG -3'

Posted On

2014-12-29