Mutagenetix > Incidental Mutation

Incidental Mutation 'R2859:Mrgprb4'

252643

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb4

Ensembl Gene

ENSMUSG00000070550

Gene Name

MAS-related GPR, member B4

Synonyms

MrgB4

MMRRC Submission

040449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48198070-48199288 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48198336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 281 (R281S)

Ref Sequence

ENSEMBL: ENSMUSP00000091952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094388]

AlphaFold

Q91ZC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094388
AA Change: R281S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091952
Gene: ENSMUSG00000070550
AA Change: R281S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	37	215	6.4e-8	PFAM
Pfam:7tm_1	46	274	7.6e-12	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are viable, fertile and overtly normal with no apparent alterations in the pattern of axonal innervation of the epidermis. [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
Abca17	T	C	17: 24,281,314 (GRCm38)	Y1301C	possibly damaging	Het
Amfr	A	T	8: 94,005,214 (GRCm38)	N11K	probably damaging	Het
C87977	A	G	4: 144,209,622 (GRCm38)	S23P	probably benign	Het
Cadm3	A	G	1: 173,346,545 (GRCm38)	S34P	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Cdh23	C	T	10: 60,382,653 (GRCm38)		probably null	Het
Ceacam1	T	A	7: 25,474,017 (GRCm38)	I249F	probably damaging	Het
Cuzd1	C	T	7: 131,316,134 (GRCm38)	V246M	probably damaging	Het
Ehd2	A	T	7: 15,964,129 (GRCm38)	V61E	probably damaging	Het
Fam71b	T	C	11: 46,405,212 (GRCm38)	I137T	probably damaging	Het
Fibin	C	T	2: 110,362,197 (GRCm38)	R200H	probably damaging	Het
Fmo9	A	C	1: 166,673,667 (GRCm38)	F237C	probably damaging	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Iqgap3	C	A	3: 88,107,596 (GRCm38)	S873*	probably null	Het
Ism2	T	C	12: 87,299,663 (GRCm38)	M15V	unknown	Het
Itk	T	G	11: 46,344,835 (GRCm38)		probably benign	Het
Mastl	C	A	2: 23,139,967 (GRCm38)	C249F	probably damaging	Het
Mink1	T	C	11: 70,612,508 (GRCm38)	V1143A	probably damaging	Het
Mthfd1	T	C	12: 76,288,925 (GRCm38)	Y258H	probably damaging	Het
Ntmt1	A	G	2: 30,822,365 (GRCm38)	H140R	probably damaging	Het
Olfr139	C	T	11: 74,044,827 (GRCm38)	G149D	possibly damaging	Het
Olfr311	T	A	11: 58,841,882 (GRCm38)	V256E	probably benign	Het
Olfr340	T	C	2: 36,453,130 (GRCm38)	S182P	probably benign	Het
Olfr401	T	C	11: 74,121,982 (GRCm38)	I231T	probably damaging	Het
Parm1	A	G	5: 91,594,306 (GRCm38)	T178A	possibly damaging	Het
Patl1	T	C	19: 11,923,831 (GRCm38)	F282L	probably damaging	Het
Phospho2	T	C	2: 69,795,851 (GRCm38)	V117A	possibly damaging	Het
Ppp4r3a	T	C	12: 101,042,647 (GRCm38)		probably null	Het
Rbm17	A	G	2: 11,590,704 (GRCm38)	F230S	possibly damaging	Het
Robo3	C	A	9: 37,428,104 (GRCm38)	G196*	probably null	Het
Samhd1	A	G	2: 157,106,229 (GRCm38)		probably null	Het
Setx	GTGGCT	GT	2: 29,154,061 (GRCm38)	1814	probably null	Het
Thbs4	A	G	13: 92,790,708 (GRCm38)	F91S	probably benign	Het
Trim34b	A	T	7: 104,336,232 (GRCm38)	N358I	probably benign	Het
Ulk1	A	G	5: 110,794,629 (GRCm38)	L255P	probably damaging	Het
Vmn2r104	T	A	17: 20,048,193 (GRCm38)	I5F	possibly damaging	Het
Vrk2	C	A	11: 26,483,324 (GRCm38)	S286I	possibly damaging	Het
Zswim3	T	C	2: 164,820,389 (GRCm38)	L263P	probably damaging	Het

Other mutations in Mrgprb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Mrgprb4	APN	7	48,198,901 (GRCm38)	missense	probably benign
IGL02745:Mrgprb4	APN	7	48,198,358 (GRCm38)	missense	probably damaging	0.97
R0718:Mrgprb4	UTSW	7	48,198,553 (GRCm38)	missense	probably benign	0.10
R0849:Mrgprb4	UTSW	7	48,199,120 (GRCm38)	missense	probably benign	0.24
R1526:Mrgprb4	UTSW	7	48,198,411 (GRCm38)	nonsense	probably null
R2857:Mrgprb4	UTSW	7	48,198,336 (GRCm38)	missense	possibly damaging	0.91
R4355:Mrgprb4	UTSW	7	48,198,701 (GRCm38)	missense	possibly damaging	0.63
R5354:Mrgprb4	UTSW	7	48,198,329 (GRCm38)	missense	probably benign	0.07
R5636:Mrgprb4	UTSW	7	48,198,470 (GRCm38)	missense	probably benign	0.02
R5715:Mrgprb4	UTSW	7	48,199,039 (GRCm38)	missense	probably damaging	1.00
R6180:Mrgprb4	UTSW	7	48,198,826 (GRCm38)	missense	probably damaging	1.00
R6277:Mrgprb4	UTSW	7	48,198,901 (GRCm38)	missense	probably benign
R7092:Mrgprb4	UTSW	7	48,198,236 (GRCm38)	missense	probably benign	0.01
R7301:Mrgprb4	UTSW	7	48,198,758 (GRCm38)	missense	probably damaging	0.99
R7779:Mrgprb4	UTSW	7	48,199,147 (GRCm38)	missense	probably benign	0.19
R8077:Mrgprb4	UTSW	7	48,198,455 (GRCm38)	missense	probably benign	0.00
R8292:Mrgprb4	UTSW	7	48,198,806 (GRCm38)	missense	probably damaging	1.00
R8429:Mrgprb4	UTSW	7	48,198,425 (GRCm38)	missense	probably benign	0.01
R9000:Mrgprb4	UTSW	7	48,199,021 (GRCm38)	missense	probably damaging	1.00
R9006:Mrgprb4	UTSW	7	48,198,595 (GRCm38)	missense	probably benign	0.12
R9106:Mrgprb4	UTSW	7	48,198,931 (GRCm38)	missense	probably benign	0.43
R9717:Mrgprb4	UTSW	7	48,198,835 (GRCm38)	missense	possibly damaging	0.96
Z1088:Mrgprb4	UTSW	7	48,198,682 (GRCm38)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GTCAGTTTCTGTGTAACAAGCTC -3'
(R):5'- TTGCTCTCACAGTGGTGGTC -3'

Sequencing Primer
(F):5'- CAGTTTCTGTGTAACAAGCTCATTTC -3'
(R):5'- TCACAGTGGTGGTCTTCATATAC -3'

Posted On

2014-12-04