Mutagenetix > Incidental Mutation

Incidental Mutation 'R5311:Mrgprb3'

404848

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb3

Ensembl Gene

ENSMUSG00000070546

Gene Name

MAS-related GPR, member B3

Synonyms

MrgB3

MMRRC Submission

042894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5311 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48292611-48293549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48293059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 164 (C164Y)

Ref Sequence

ENSEMBL: ENSMUSP00000091945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094383]

AlphaFold

Q91ZC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094383
AA Change: C164Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091945
Gene: ENSMUSG00000070546
AA Change: C164Y

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	25	279	4e-13	SMART
low complexity region	301	312	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5z1	A	G	5: 142,453,442 (GRCm39)	K137E	possibly damaging	Het
Atm	A	C	9: 53,429,923 (GRCm39)	V371G	probably benign	Het
Cacna2d3	A	G	14: 29,068,987 (GRCm39)	Y247H	probably damaging	Het
Ccdc180	T	C	4: 45,917,556 (GRCm39)	V927A	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Edar	G	A	10: 58,443,257 (GRCm39)	P290S	possibly damaging	Het
Ext2	T	C	2: 93,526,606 (GRCm39)	I677V	probably benign	Het
Fam53a	A	G	5: 33,765,080 (GRCm39)	S209P	probably damaging	Het
Fshr	A	T	17: 89,318,441 (GRCm39)		probably null	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gm14295	A	T	2: 176,502,465 (GRCm39)	I652L	probably benign	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Gm5431	T	A	11: 48,779,716 (GRCm39)	E402V	probably damaging	Het
Gm6899	GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC	GGAGGCCGCCCAGTGGCAGAGGC	11: 26,543,725 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,115,346 (GRCm39)	D342G	probably benign	Het
Lgi2	A	T	5: 52,711,827 (GRCm39)	D164E	probably damaging	Het
Lrriq1	A	G	10: 103,050,448 (GRCm39)	I768T	probably damaging	Het
Map1a	C	A	2: 121,132,868 (GRCm39)	A990E	probably damaging	Het
Mdh1b	A	G	1: 63,759,163 (GRCm39)	V143A	probably benign	Het
Mtpap	T	A	18: 4,386,328 (GRCm39)	V316E	probably damaging	Het
Mybpc3	T	A	2: 90,959,023 (GRCm39)	C655*	probably null	Het
Myh15	A	G	16: 48,986,204 (GRCm39)	E1558G	possibly damaging	Het
Mylk	A	G	16: 34,742,127 (GRCm39)	T880A	probably benign	Het
Nckap1	T	A	2: 80,370,466 (GRCm39)	D408V	probably damaging	Het
Nos3	A	T	5: 24,582,343 (GRCm39)	H605L	probably benign	Het
Nrxn2	C	A	19: 6,581,428 (GRCm39)	D411E	probably benign	Het
Or1af1	T	C	2: 37,109,633 (GRCm39)	V44A	probably benign	Het
Or8j3b	T	A	2: 86,205,094 (GRCm39)	I221L	possibly damaging	Het
Pde4d	C	A	13: 109,769,398 (GRCm39)	P29T	probably benign	Het
Pde4d	C	T	13: 109,769,399 (GRCm39)	P29L	probably benign	Het
Pkhd1	A	G	1: 20,636,094 (GRCm39)	V412A	possibly damaging	Het
Rev1	T	A	1: 38,118,474 (GRCm39)	I480L	probably benign	Het
Rimbp3	A	G	16: 17,028,708 (GRCm39)	T711A	probably benign	Het
RP23-191E1.1	T	A	3: 106,204,784 (GRCm39)		noncoding transcript	Het
Serpina11	A	T	12: 103,952,221 (GRCm39)	I183N	probably damaging	Het
Siglec1	T	C	2: 130,921,236 (GRCm39)	H645R	probably damaging	Het
Skint7	G	A	4: 111,837,501 (GRCm39)	R93H	probably damaging	Het
Slfn8	T	C	11: 82,894,910 (GRCm39)	E632G	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Trps1	G	A	15: 50,528,156 (GRCm39)	T658I	probably damaging	Het
Ubash3a	A	G	17: 31,438,691 (GRCm39)	T287A	probably damaging	Het
Ugt2b35	G	A	5: 87,159,139 (GRCm39)	W444*	probably null	Het
Vmn1r219	T	A	13: 23,347,063 (GRCm39)	V84D	probably damaging	Het
Vmn2r10	T	C	5: 109,154,121 (GRCm39)	Y61C	probably damaging	Het
Vmn2r104	G	A	17: 20,250,163 (GRCm39)	P703S	probably damaging	Het
Wdsub1	T	A	2: 59,708,873 (GRCm39)		probably benign	Het
Zfp667	A	G	7: 6,308,715 (GRCm39)	Q461R	probably benign	Het
Zfp941	C	A	7: 140,391,872 (GRCm39)	G496*	probably null	Het

Other mutations in Mrgprb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03069:Mrgprb3	APN	7	48,293,198 (GRCm39)	missense	possibly damaging	0.71
Reserve	UTSW	7	48,293,447 (GRCm39)	missense	probably benign	0.02
starker	UTSW	7	48,293,116 (GRCm39)	missense	probably benign	0.28
IGL03052:Mrgprb3	UTSW	7	48,293,341 (GRCm39)	missense	possibly damaging	0.93
R0446:Mrgprb3	UTSW	7	48,292,984 (GRCm39)	missense	probably benign	0.42
R0546:Mrgprb3	UTSW	7	48,293,263 (GRCm39)	missense	probably damaging	1.00
R0885:Mrgprb3	UTSW	7	48,292,844 (GRCm39)	missense	probably damaging	1.00
R1764:Mrgprb3	UTSW	7	48,292,771 (GRCm39)	missense	probably benign	0.01
R2044:Mrgprb3	UTSW	7	48,293,482 (GRCm39)	missense	possibly damaging	0.92
R2230:Mrgprb3	UTSW	7	48,292,770 (GRCm39)	missense	probably benign	0.05
R2232:Mrgprb3	UTSW	7	48,292,770 (GRCm39)	missense	probably benign	0.05
R2240:Mrgprb3	UTSW	7	48,293,389 (GRCm39)	missense	probably damaging	0.99
R3001:Mrgprb3	UTSW	7	48,293,232 (GRCm39)	missense	probably benign
R3002:Mrgprb3	UTSW	7	48,293,232 (GRCm39)	missense	probably benign
R4717:Mrgprb3	UTSW	7	48,293,000 (GRCm39)	missense	probably benign	0.01
R4805:Mrgprb3	UTSW	7	48,293,054 (GRCm39)	missense	probably benign	0.01
R5083:Mrgprb3	UTSW	7	48,292,762 (GRCm39)	missense	probably benign	0.01
R5330:Mrgprb3	UTSW	7	48,292,682 (GRCm39)	missense	possibly damaging	0.90
R5331:Mrgprb3	UTSW	7	48,292,682 (GRCm39)	missense	possibly damaging	0.90
R5615:Mrgprb3	UTSW	7	48,293,234 (GRCm39)	missense	probably benign	0.01
R5621:Mrgprb3	UTSW	7	48,293,116 (GRCm39)	missense	probably benign	0.28
R5697:Mrgprb3	UTSW	7	48,292,673 (GRCm39)	missense	probably damaging	0.96
R5725:Mrgprb3	UTSW	7	48,293,548 (GRCm39)	start codon destroyed	probably null	0.02
R5758:Mrgprb3	UTSW	7	48,293,067 (GRCm39)	missense	probably benign	0.01
R5807:Mrgprb3	UTSW	7	48,293,110 (GRCm39)	missense	probably benign	0.02
R5908:Mrgprb3	UTSW	7	48,293,366 (GRCm39)	missense	probably damaging	0.98
R6902:Mrgprb3	UTSW	7	48,293,447 (GRCm39)	missense	probably benign	0.02
R7037:Mrgprb3	UTSW	7	48,292,942 (GRCm39)	missense	probably damaging	1.00
R7288:Mrgprb3	UTSW	7	48,293,059 (GRCm39)	missense	probably damaging	1.00
R7605:Mrgprb3	UTSW	7	48,292,862 (GRCm39)	missense	probably benign	0.01
R8246:Mrgprb3	UTSW	7	48,293,268 (GRCm39)	missense	probably benign	0.02
R8292:Mrgprb3	UTSW	7	48,293,255 (GRCm39)	missense	probably benign	0.01
R8972:Mrgprb3	UTSW	7	48,293,422 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATCAGGAGGAGTAGCACTCTG -3'
(R):5'- CATTAGACAGCTTTTGGATACTGTG -3'

Sequencing Primer
(F):5'- GAGTGCAATAGTTACATTCAGCCTGG -3'
(R):5'- GACAGCTTTTGGATACTGTGACAATG -3'

Posted On

2016-07-22