Mutagenetix > Incidental Mutations

Incidental Mutation 'R8168:Mrgprb2'

633905

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb2

Ensembl Gene

ENSMUSG00000050425

Gene Name

MAS-related GPR, member B2

Synonyms

4833406I20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48550965-48558086 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48552019 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 319 (S319R)

Ref Sequence

ENSEMBL: ENSMUSP00000061878 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000052730
AA Change: S319R

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061878
Gene: ENSMUSG00000050425
AA Change: S319R

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (44/44)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	G	A	10: 77,982,944	A150T	probably benign	Het
9430020K01Rik	A	T	18: 4,675,094	D952V	probably benign	Het
AI607873	A	C	1: 173,729,938	S411R	probably benign	Het
Ano4	A	G	10: 88,980,995	I652T	probably damaging	Het
Arhgef1	A	G	7: 24,925,406	T862A	probably benign	Het
Atp6v1b2	T	C	8: 69,108,331	S404P	possibly damaging	Het
Cfap54	A	T	10: 92,908,877	S2170T	unknown	Het
Copa	A	T	1: 172,099,672	H204L	probably damaging	Het
Cwc22	A	C	2: 77,927,271	V171G	probably damaging	Het
D230025D16Rik	C	T	8: 105,248,769	P330L	probably benign	Het
Dock5	A	T	14: 67,770,197		probably null	Het
Flrt1	G	A	19: 7,096,637	L182F	probably damaging	Het
Foxf1	T	C	8: 121,085,162	V255A	probably damaging	Het
Gnptab	G	T	10: 88,419,133	A194S	probably benign	Het
Gzf1	C	T	2: 148,684,766	R386C	probably damaging	Het
H2-Aa	T	A	17: 34,287,721	T16S	possibly damaging	Het
Hdgfrp2	T	C	17: 56,082,282	F52S	probably damaging	Het
Htt	A	G	5: 34,882,956	N2154S	probably benign	Het
Lama3	T	A	18: 12,506,942	W65R	probably null	Het
Mef2c	G	T	13: 83,656,350	L356F	probably damaging	Het
Mtrr	C	T	13: 68,572,613	V288I	probably benign	Het
Myo18a	T	A	11: 77,821,142	I713N	probably damaging	Het
Nelfa	A	T	5: 33,921,907	N107K	possibly damaging	Het
Nim1k	A	T	13: 119,712,752	V202D	probably damaging	Het
Nlrc4	T	C	17: 74,445,211	T726A	probably benign	Het
Olfr1154	T	A	2: 87,903,199	H159L	probably damaging	Het
Olfr1208	T	A	2: 88,896,776	M274L	probably benign	Het
Prdm10	G	A	9: 31,346,967	A514T	probably benign	Het
Prg4	T	A	1: 150,455,850	E357D	unknown	Het
Ptp4a3	T	G	15: 73,756,846	Y152D	probably damaging	Het
Raph1	A	G	1: 60,499,620	C389R	unknown	Het
Rcc1	T	C	4: 132,335,785	E170G	probably benign	Het
Spag17	C	T	3: 100,034,984	T775M	possibly damaging	Het
Srcap	T	A	7: 127,542,523	V1825D	probably damaging	Het
Tex40	A	G	19: 6,922,652	S162P	possibly damaging	Het
Tshr	T	A	12: 91,511,965	H195Q	probably benign	Het
Vmn1r174	A	T	7: 23,754,671	D254V	probably damaging	Het
Vps13a	A	C	19: 16,749,548	I244M	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
R2932:Mrgprb2	UTSW	7	48552446	missense	probably benign	0.17
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
R7017:Mrgprb2	UTSW	7	48552837	missense	probably benign	0.08
R7341:Mrgprb2	UTSW	7	48552896	missense	probably benign	0.01
R7399:Mrgprb2	UTSW	7	48552142	missense	probably damaging	1.00
R8189:Mrgprb2	UTSW	7	48552754	nonsense	probably null
Z1177:Mrgprb2	UTSW	7	48552973	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- TATGACAAGACCCATTTCTCTCAAC -3'
(R):5'- AGCGAATTCCTATGACCAGGC -3'

Sequencing Primer
(F):5'- AAGACCCATTTCTCTCAACTTTTAC -3'
(R):5'- CGAATTCCTATGACCAGGCTGTATG -3'

Posted On

2020-07-13