Mutagenetix > Incidental Mutation

Incidental Mutation 'R2857:Mrgprb4'

252476

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb4

Ensembl Gene

ENSMUSG00000070550

Gene Name

MAS-related GPR, member B4

Synonyms

MrgB4

MMRRC Submission

040447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47847961-47848926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47848084 bp (GRCm39)

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: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330087D11Rik	A	T	7: 29,273,303 (GRCm39)		noncoding transcript	Het
Amfr	A	T	8: 94,731,842 (GRCm39)	N11K	probably damaging	Het
Bpifa6	G	A	2: 153,831,194 (GRCm39)	M253I	probably benign	Het
C330018D20Rik	A	G	18: 57,095,531 (GRCm39)	L18P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh23	C	T	10: 60,218,432 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,173,442 (GRCm39)	I249F	probably damaging	Het
Cfap54	C	T	10: 92,881,144 (GRCm39)	R348Q	probably damaging	Het
Cfap91	A	C	16: 38,123,075 (GRCm39)	L651R	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cuzd1	C	T	7: 130,917,863 (GRCm39)	V246M	probably damaging	Het
Ehd2	A	T	7: 15,698,054 (GRCm39)	V61E	probably damaging	Het
Erich5	C	T	15: 34,471,560 (GRCm39)	T263I	probably damaging	Het
Fbxo36	A	G	1: 84,874,316 (GRCm39)	K104R	probably benign	Het
Fibin	C	T	2: 110,192,542 (GRCm39)	R200H	probably damaging	Het
Gad2	A	C	2: 22,563,987 (GRCm39)	M397L	probably benign	Het
Garin3	T	C	11: 46,296,039 (GRCm39)	I137T	probably damaging	Het
Iqgap3	C	A	3: 88,014,903 (GRCm39)	S873*	probably null	Het
Kcnh8	A	G	17: 53,284,961 (GRCm39)	D977G	probably benign	Het
Mau2	T	C	8: 70,472,474 (GRCm39)	M570V	probably benign	Het
Mthfd1	T	C	12: 76,335,699 (GRCm39)	Y258H	probably damaging	Het
Nexn	C	T	3: 151,953,680 (GRCm39)	E247K	probably damaging	Het
Or11g27	T	A	14: 50,770,897 (GRCm39)	N9K	probably benign	Het
Or3a10	C	T	11: 73,935,653 (GRCm39)	G149D	possibly damaging	Het
Or9e1	T	A	11: 58,732,708 (GRCm39)	V256E	probably benign	Het
Phrf1	T	A	7: 140,839,593 (GRCm39)		probably benign	Het
Prc1	A	G	7: 79,961,969 (GRCm39)	N52S	probably damaging	Het
Psd	G	C	19: 46,312,859 (GRCm39)	S170R	probably benign	Het
Riok1	T	C	13: 38,233,053 (GRCm39)	F229L	probably damaging	Het
Slco1a7	A	G	6: 141,690,264 (GRCm39)	V163A	probably benign	Het
Stat2	A	G	10: 128,112,770 (GRCm39)		probably null	Het
Sycp3	A	G	10: 88,303,234 (GRCm39)	E166G	probably damaging	Het
Szt2	G	A	4: 118,226,599 (GRCm39)	T510I	probably damaging	Het
Trank1	A	T	9: 111,196,001 (GRCm39)	T1342S	probably benign	Het
Trav3-1	C	A	14: 52,818,515 (GRCm39)	A63E	probably benign	Het
Trim34b	A	T	7: 103,985,439 (GRCm39)	N358I	probably benign	Het
Trmt11	G	C	10: 30,423,744 (GRCm39)	P387R	probably damaging	Het
Vmn2r82	T	A	10: 79,217,090 (GRCm39)	I474N	probably damaging	Het
Vrk2	C	A	11: 26,433,324 (GRCm39)	S286I	possibly damaging	Het
Wdfy3	A	T	5: 102,023,796 (GRCm39)	I2451N	probably benign	Het
Zfp326	G	A	5: 106,036,395 (GRCm39)	R102H	probably benign	Het

Other mutations in Mrgprb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Mrgprb4	APN	7	47,848,649 (GRCm39)	missense	probably benign
IGL02745:Mrgprb4	APN	7	47,848,106 (GRCm39)	missense	probably damaging	0.97
R0718:Mrgprb4	UTSW	7	47,848,301 (GRCm39)	missense	probably benign	0.10
R0849:Mrgprb4	UTSW	7	47,848,868 (GRCm39)	missense	probably benign	0.24
R1526:Mrgprb4	UTSW	7	47,848,159 (GRCm39)	nonsense	probably null
R2859:Mrgprb4	UTSW	7	47,848,084 (GRCm39)	missense	possibly damaging	0.91
R4355:Mrgprb4	UTSW	7	47,848,449 (GRCm39)	missense	possibly damaging	0.63
R5354:Mrgprb4	UTSW	7	47,848,077 (GRCm39)	missense	probably benign	0.07
R5636:Mrgprb4	UTSW	7	47,848,218 (GRCm39)	missense	probably benign	0.02
R5715:Mrgprb4	UTSW	7	47,848,787 (GRCm39)	missense	probably damaging	1.00
R6180:Mrgprb4	UTSW	7	47,848,574 (GRCm39)	missense	probably damaging	1.00
R6277:Mrgprb4	UTSW	7	47,848,649 (GRCm39)	missense	probably benign
R7092:Mrgprb4	UTSW	7	47,847,984 (GRCm39)	missense	probably benign	0.01
R7301:Mrgprb4	UTSW	7	47,848,506 (GRCm39)	missense	probably damaging	0.99
R7779:Mrgprb4	UTSW	7	47,848,895 (GRCm39)	missense	probably benign	0.19
R8077:Mrgprb4	UTSW	7	47,848,203 (GRCm39)	missense	probably benign	0.00
R8292:Mrgprb4	UTSW	7	47,848,554 (GRCm39)	missense	probably damaging	1.00
R8429:Mrgprb4	UTSW	7	47,848,173 (GRCm39)	missense	probably benign	0.01
R9000:Mrgprb4	UTSW	7	47,848,769 (GRCm39)	missense	probably damaging	1.00
R9006:Mrgprb4	UTSW	7	47,848,343 (GRCm39)	missense	probably benign	0.12
R9106:Mrgprb4	UTSW	7	47,848,679 (GRCm39)	missense	probably benign	0.43
R9717:Mrgprb4	UTSW	7	47,848,583 (GRCm39)	missense	possibly damaging	0.96
Z1088:Mrgprb4	UTSW	7	47,848,430 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

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

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

Posted On

2014-12-04