Mutagenetix > Incidental Mutation

Incidental Mutation 'R5051:Mrgpra6'

394647

Institutional Source

Beutler Lab

Gene Symbol

Mrgpra6

Ensembl Gene

ENSMUSG00000052303

Gene Name

MAS-related GPR, member A6

Synonyms

MrgA6

MMRRC Submission

042641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R5051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46835465-46839164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46835690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 244 (V244I)

Ref Sequence

ENSEMBL: ENSMUSP00000073463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073793] [ENSMUST00000186456]

AlphaFold

Q91ZC6

Predicted Effect

probably benign
Transcript: ENSMUST00000073793
AA Change: V244I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073463
Gene: ENSMUSG00000052303
AA Change: V244I

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	17	198	5.9e-8	PFAM
Pfam:7tm_1	26	258	5.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186456

SMART Domains

Protein: ENSMUSP00000140353
Gene: ENSMUSG00000052303

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
Pfam:7TM_GPCR_Srx	48	228	1.1e-5	PFAM
Pfam:7tm_1	57	270	1e-15	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	G	A	11: 25,718,990 (GRCm39)	T51I	unknown	Het
Alms1	C	T	6: 85,604,916 (GRCm39)	Q2189*	probably null	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Ap3d1	T	G	10: 80,555,033 (GRCm39)	T431P	probably damaging	Het
Arnt	A	G	3: 95,377,648 (GRCm39)	T125A	probably benign	Het
Atp10a	TGTCCGTC	TGTC	7: 58,389,994 (GRCm39)		probably null	Het
Bscl2	A	T	19: 8,822,643 (GRCm39)	R195*	probably null	Het
Ccdc146	C	T	5: 21,508,081 (GRCm39)	V656I	possibly damaging	Het
Ccn6	A	G	10: 39,031,152 (GRCm39)	F124L	probably benign	Het
Ccr4	T	C	9: 114,321,714 (GRCm39)	Y117C	probably damaging	Het
Cd55	T	A	1: 130,376,085 (GRCm39)	D355V	probably damaging	Het
Cntn6	T	A	6: 104,749,558 (GRCm39)	I259N	probably damaging	Het
Cspg4	A	G	9: 56,793,020 (GRCm39)	I252V	possibly damaging	Het
Dmbt1	T	C	7: 130,696,472 (GRCm39)	V895A	probably benign	Het
Ect2	A	G	3: 27,156,635 (GRCm39)	V775A	probably benign	Het
Gm14486	T	C	2: 30,548,889 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,756,393 (GRCm39)	N444S	possibly damaging	Het
Heatr5b	T	C	17: 79,102,703 (GRCm39)	D1225G	probably damaging	Het
Il1rl2	G	A	1: 40,382,254 (GRCm39)	V189I	probably benign	Het
Kif1a	G	A	1: 93,003,876 (GRCm39)		probably null	Het
Ltbr	T	A	6: 125,289,733 (GRCm39)	T154S	probably damaging	Het
Myo15a	G	A	11: 60,378,251 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,204,106 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,268,913 (GRCm39)	N496K	possibly damaging	Het
Nkd2	A	G	13: 73,973,195 (GRCm39)	V147A	probably benign	Het
Nlrp3	G	C	11: 59,457,025 (GRCm39)	R1013P	probably benign	Het
Or4d11	C	A	19: 12,013,288 (GRCm39)	V273F	possibly damaging	Het
Or4k36	T	A	2: 111,146,599 (GRCm39)	Y258*	probably null	Het
Pdk2	T	C	11: 94,919,598 (GRCm39)	S263G	probably benign	Het
Pla2g4e	T	A	2: 120,004,785 (GRCm39)	I520F	probably damaging	Het
Plat	A	G	8: 23,263,688 (GRCm39)	T196A	probably benign	Het
Podn	T	A	4: 107,872,043 (GRCm39)	D400V	probably benign	Het
Poteg	T	C	8: 27,943,357 (GRCm39)	V147A	possibly damaging	Het
Prkar2a	A	G	9: 108,622,690 (GRCm39)	N315D	probably benign	Het
Rac2	A	G	15: 78,449,134 (GRCm39)	I13T	possibly damaging	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Relch	T	A	1: 105,619,711 (GRCm39)	N313K	possibly damaging	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Supv3l1	A	C	10: 62,279,196 (GRCm39)	I240S	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Tead4	A	C	6: 128,271,262 (GRCm39)		probably benign	Het
Tex10	G	A	4: 48,460,019 (GRCm39)	A444V	possibly damaging	Het
Tgds	A	T	14: 118,365,639 (GRCm39)	I73K	probably damaging	Het
Tmem117	C	A	15: 94,612,794 (GRCm39)	T110K	probably damaging	Het
Trim30a	T	A	7: 104,060,913 (GRCm39)		probably benign	Het
Unc80	C	T	1: 66,548,636 (GRCm39)	T636I	probably damaging	Het
Ybey	G	A	10: 76,304,173 (GRCm39)	R10W	probably damaging	Het
Zap70	A	G	1: 36,820,532 (GRCm39)	I576V	probably benign	Het
Zfp64	T	C	2: 168,768,304 (GRCm39)	D436G	probably damaging	Het

Other mutations in Mrgpra6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01645:Mrgpra6	APN	7	46,835,681 (GRCm39)	missense	probably benign	0.00
IGL01780:Mrgpra6	APN	7	46,838,497 (GRCm39)	missense	probably damaging	1.00
IGL01801:Mrgpra6	APN	7	46,835,572 (GRCm39)	missense	possibly damaging	0.90
IGL02158:Mrgpra6	APN	7	46,835,700 (GRCm39)	nonsense	probably null
IGL02715:Mrgpra6	APN	7	46,838,396 (GRCm39)	splice site	probably benign
IGL02896:Mrgpra6	APN	7	46,838,655 (GRCm39)	missense	probably benign	0.02
D4216:Mrgpra6	UTSW	7	46,838,504 (GRCm39)	missense	probably damaging	0.96
R1566:Mrgpra6	UTSW	7	46,838,652 (GRCm39)	missense	probably benign	0.02
R4016:Mrgpra6	UTSW	7	46,838,463 (GRCm39)	missense	possibly damaging	0.76
R5384:Mrgpra6	UTSW	7	46,838,629 (GRCm39)	missense	probably damaging	1.00
R5386:Mrgpra6	UTSW	7	46,838,629 (GRCm39)	missense	probably damaging	1.00
R5638:Mrgpra6	UTSW	7	46,835,657 (GRCm39)	missense	probably damaging	1.00
R5860:Mrgpra6	UTSW	7	46,839,099 (GRCm39)	missense	probably benign	0.41
R6633:Mrgpra6	UTSW	7	46,838,493 (GRCm39)	missense	possibly damaging	0.89
R6952:Mrgpra6	UTSW	7	46,835,693 (GRCm39)	missense	probably benign	0.01
R6980:Mrgpra6	UTSW	7	46,838,697 (GRCm39)	missense	probably damaging	0.97
R9455:Mrgpra6	UTSW	7	46,838,967 (GRCm39)	missense	probably damaging	1.00
R9615:Mrgpra6	UTSW	7	46,835,675 (GRCm39)	missense	probably benign	0.06
R9701:Mrgpra6	UTSW	7	46,835,533 (GRCm39)	missense	probably benign	0.00
R9802:Mrgpra6	UTSW	7	46,835,533 (GRCm39)	missense	probably benign	0.00
Z1177:Mrgpra6	UTSW	7	46,838,910 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GGCTCTTCATCACAGCTCTG -3'
(R):5'- CATTGGACACGCAGACTTTGTG -3'

Sequencing Primer
(F):5'- ACAGCTCTGCTTTGTTTCTTGACATC -3'
(R):5'- AGACTTTGTGTGCCCCGGTAC -3'

Posted On

2016-06-15