Mutagenetix > Incidental Mutation

Incidental Mutation 'R6797:Mrgprb8'

533050

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb8

Ensembl Gene

ENSMUSG00000050870

Gene Name

MAS-related GPR, member B8

Synonyms

MrgB8

MMRRC Submission

044910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48038274-48039396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48038892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 188 (V188I)

Ref Sequence

ENSEMBL: ENSMUSP00000052230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056676]

AlphaFold

Q7TN51

Predicted Effect

probably benign
Transcript: ENSMUST00000056676
AA Change: V188I

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000052230
Gene: ENSMUSG00000050870
AA Change: V188I

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	37	219	3.9e-7	PFAM
low complexity region	302	327	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c18	T	A	13: 4,195,276 (GRCm39)	I61L	probably benign	Het
Angptl2	T	C	2: 33,118,277 (GRCm39)	V17A	probably benign	Het
Casp14	T	C	10: 78,550,975 (GRCm39)	D70G	possibly damaging	Het
Cckbr	A	G	7: 105,083,773 (GRCm39)	M234V	possibly damaging	Het
Cd93	T	C	2: 148,284,044 (GRCm39)	N434S	probably benign	Het
Cenpe	A	T	3: 134,943,899 (GRCm39)	Q938L	possibly damaging	Het
Col6a3	A	C	1: 90,731,810 (GRCm39)	V1481G	probably damaging	Het
Dnah5	G	T	15: 28,233,384 (GRCm39)	E248*	probably null	Het
Dnah5	G	A	15: 28,451,609 (GRCm39)	R4349Q	probably damaging	Het
F11	A	G	8: 45,706,092 (GRCm39)	Y98H	probably benign	Het
Fen1	A	G	19: 10,178,067 (GRCm39)	F126L	probably benign	Het
Gpr146	G	A	5: 139,378,795 (GRCm39)	G199D	possibly damaging	Het
Gramd1b	A	G	9: 40,219,702 (GRCm39)	I324T	probably benign	Het
H2bc12	A	T	13: 22,220,259 (GRCm39)	N68I	probably benign	Het
Hivep1	C	A	13: 42,310,557 (GRCm39)	S932R	probably benign	Het
Hk3	A	T	13: 55,158,644 (GRCm39)		probably null	Het
Hspbp1	T	A	7: 4,663,781 (GRCm39)	M355L	possibly damaging	Het
Jaml	T	C	9: 45,000,058 (GRCm39)	C77R	probably damaging	Het
Kmt2e	A	G	5: 23,687,505 (GRCm39)	N452D	possibly damaging	Het
Krt5	T	C	15: 101,621,076 (GRCm39)	Y57C	unknown	Het
Lipn	A	T	19: 34,058,160 (GRCm39)	M294L	probably benign	Het
Magel2	A	G	7: 62,029,907 (GRCm39)	E937G	unknown	Het
Med13l	G	A	5: 118,897,329 (GRCm39)		probably null	Het
Ocln	T	C	13: 100,676,223 (GRCm39)	D90G	probably damaging	Het
Ofcc1	C	T	13: 40,241,423 (GRCm39)	R695Q	possibly damaging	Het
Or11h23	T	A	14: 50,948,563 (GRCm39)	Y259N	probably damaging	Het
Or52ab7	G	A	7: 102,978,328 (GRCm39)	V212I	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pak5	A	T	2: 135,939,454 (GRCm39)	H560Q	probably damaging	Het
Pigg	T	C	5: 108,480,694 (GRCm39)	S493P	probably damaging	Het
Ppp6r3	A	G	19: 3,564,719 (GRCm39)	W185R	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sacs	T	A	14: 61,450,522 (GRCm39)	D4189E	probably damaging	Het
Serpinb9b	A	G	13: 33,213,467 (GRCm39)	N8S	possibly damaging	Het
Slit3	A	G	11: 35,524,779 (GRCm39)	T730A	possibly damaging	Het
Srgap3	A	T	6: 112,806,503 (GRCm39)	F53I	probably damaging	Het
Stc2	T	A	11: 31,315,351 (GRCm39)	K163*	probably null	Het
Tasor2	T	C	13: 3,626,769 (GRCm39)	I1060M	probably benign	Het
Tlk1	T	A	2: 70,568,770 (GRCm39)	K411*	probably null	Het
Ttc27	G	T	17: 75,036,883 (GRCm39)	L185F	probably benign	Het
Vmn2r102	C	T	17: 19,880,694 (GRCm39)	Q12*	probably null	Het
Vmn2r95	C	T	17: 18,672,551 (GRCm39)		probably benign	Het
Vopp1	A	G	6: 57,739,492 (GRCm39)	Y19H	possibly damaging	Het
Wdr64	T	A	1: 175,638,176 (GRCm39)		probably null	Het

Other mutations in Mrgprb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02031:Mrgprb8	APN	7	48,039,087 (GRCm39)	missense	probably benign	0.01
IGL02191:Mrgprb8	APN	7	48,038,527 (GRCm39)	missense	probably damaging	1.00
IGL02449:Mrgprb8	APN	7	48,038,431 (GRCm39)	nonsense	probably null
IGL02724:Mrgprb8	APN	7	48,039,121 (GRCm39)	missense	possibly damaging	0.85
IGL02927:Mrgprb8	APN	7	48,038,373 (GRCm39)	nonsense	probably null
astroclast1	UTSW	7	48,038,892 (GRCm39)	missense	probably benign	0.05
A4554:Mrgprb8	UTSW	7	48,039,156 (GRCm39)	missense	probably damaging	1.00
R0676:Mrgprb8	UTSW	7	48,038,412 (GRCm39)	missense	probably benign
R0890:Mrgprb8	UTSW	7	48,038,777 (GRCm39)	nonsense	probably null
R2094:Mrgprb8	UTSW	7	48,038,953 (GRCm39)	missense	probably benign	0.16
R2102:Mrgprb8	UTSW	7	48,038,634 (GRCm39)	missense	possibly damaging	0.56
R4839:Mrgprb8	UTSW	7	48,038,656 (GRCm39)	missense	probably benign	0.18
R5370:Mrgprb8	UTSW	7	48,038,568 (GRCm39)	missense	probably benign	0.00
R5471:Mrgprb8	UTSW	7	48,038,471 (GRCm39)	missense	probably damaging	1.00
R5548:Mrgprb8	UTSW	7	48,038,778 (GRCm39)	missense	probably benign	0.29
R6165:Mrgprb8	UTSW	7	48,038,565 (GRCm39)	missense	possibly damaging	0.78
R6199:Mrgprb8	UTSW	7	48,039,051 (GRCm39)	missense	probably benign	0.00
R6315:Mrgprb8	UTSW	7	48,038,983 (GRCm39)	missense	probably damaging	1.00
R6924:Mrgprb8	UTSW	7	48,038,871 (GRCm39)	missense	possibly damaging	0.71
R8219:Mrgprb8	UTSW	7	48,038,649 (GRCm39)	missense	possibly damaging	0.90
R8489:Mrgprb8	UTSW	7	48,038,701 (GRCm39)	missense	possibly damaging	0.86
R8806:Mrgprb8	UTSW	7	48,038,976 (GRCm39)	missense	possibly damaging	0.95
R9146:Mrgprb8	UTSW	7	48,039,200 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTCTTCCTCTGCACTCACATT -3'
(R):5'- AGCAAATGATAGGATTGGCACAG -3'

Sequencing Primer
(F):5'- CCCTGGAAAATCTCATTAGG -3'
(R):5'- CAGCTGTTAACACCGGATAG -3'

Posted On

2018-08-29