Mutagenetix > Incidental Mutation

Incidental Mutation 'R6952:Mrgpra6'

543282

Institutional Source

Beutler Lab

Gene Symbol

Mrgpra6

Ensembl Gene

ENSMUSG00000052303

Gene Name

MAS-related GPR, member A6

Synonyms

MrgA6

MMRRC Submission

045064-MU

Accession Numbers

Essential gene?

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

Stock #

R6952 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46835465-46839164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46835693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 243 (S243T)

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: S243T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000073463
Gene: ENSMUSG00000052303
AA Change: S243T

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	G	16: 20,368,484 (GRCm39)		probably null	Het
Acap1	C	A	11: 69,776,343 (GRCm39)	V219L	probably benign	Het
Arpp21	G	A	9: 111,955,550 (GRCm39)	P530S	probably damaging	Het
Atp6v1b1	T	C	6: 83,731,792 (GRCm39)	V224A	probably damaging	Het
Brd3	T	C	2: 27,344,371 (GRCm39)	D453G	probably damaging	Het
Btbd10	A	T	7: 112,951,150 (GRCm39)		probably null	Het
Ccdc148	T	C	2: 58,713,657 (GRCm39)	H498R	probably damaging	Het
Cga	A	T	4: 34,905,171 (GRCm39)	Y65F	possibly damaging	Het
Chd7	A	T	4: 8,856,797 (GRCm39)	H136L	probably damaging	Het
Chit1	T	C	1: 134,071,022 (GRCm39)	Y34H	probably damaging	Het
Cimap2	C	G	4: 106,467,596 (GRCm39)		probably null	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnhd1	T	G	7: 105,362,895 (GRCm39)	V3819G	probably damaging	Het
Dsg3	A	T	18: 20,658,216 (GRCm39)	I276F	possibly damaging	Het
Dusp1	T	C	17: 26,726,577 (GRCm39)	S162G	probably benign	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Gga2	C	A	7: 121,598,111 (GRCm39)	A328S	probably benign	Het
Gpr183	A	G	14: 122,191,897 (GRCm39)	I208T	possibly damaging	Het
Haspin	T	C	11: 73,026,971 (GRCm39)	D706G	possibly damaging	Het
Hdac5	T	C	11: 102,095,786 (GRCm39)	I338V	probably benign	Het
Ik	C	T	18: 36,886,613 (GRCm39)	R362C	probably damaging	Het
Kdm4c	T	G	4: 74,275,587 (GRCm39)	C754W	probably damaging	Het
Limk1	T	A	5: 134,699,332 (GRCm39)	I142F	possibly damaging	Het
Mccc2	T	C	13: 100,104,234 (GRCm39)	E305G	probably benign	Het
Mdm1	A	G	10: 118,003,962 (GRCm39)	D639G	probably damaging	Het
Mefv	T	G	16: 3,528,744 (GRCm39)	T566P	probably damaging	Het
Mep1b	G	A	18: 21,221,727 (GRCm39)	V226I	probably benign	Het
Mgmt	T	C	7: 136,553,064 (GRCm39)	M19T	probably benign	Het
Myh7	C	T	14: 55,229,197 (GRCm39)	R169Q	probably damaging	Het
Myo1b	T	C	1: 51,801,668 (GRCm39)	I917V	probably damaging	Het
Or4a80	A	T	2: 89,582,971 (GRCm39)	M67K	possibly damaging	Het
Phlpp1	T	C	1: 106,100,209 (GRCm39)	L159P	probably benign	Het
Plekhh3	T	C	11: 101,056,482 (GRCm39)	E371G	probably damaging	Het
Rps6ka2	C	A	17: 7,495,377 (GRCm39)	D21E	probably benign	Het
Slc47a1	T	A	11: 61,235,280 (GRCm39)	M518L	probably benign	Het
Slitrk6	T	C	14: 110,987,974 (GRCm39)	T578A	probably benign	Het
Syne2	A	T	12: 75,974,205 (GRCm39)	K1133N	possibly damaging	Het
Taco1	T	C	11: 105,963,942 (GRCm39)	S234P	probably benign	Het
Trpv4	G	A	5: 114,771,263 (GRCm39)	S422F	probably damaging	Het
Tvp23b	T	A	11: 62,775,952 (GRCm39)	D97E	possibly damaging	Het
Vmn1r37	A	T	6: 66,708,523 (GRCm39)	I13L	probably benign	Het
Vrk2	T	A	11: 26,485,597 (GRCm39)	K130N	probably damaging	Het
Wdfy4	C	T	14: 32,681,923 (GRCm39)	R3016Q	probably damaging	Het
Zfp383	T	C	7: 29,614,380 (GRCm39)	S212P	probably benign	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
R5051:Mrgpra6	UTSW	7	46,835,690 (GRCm39)	missense	probably benign	0.00
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
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'- AGGCTCTTCATCACAGCTCTG -3'
(R):5'- TTGGACACGCAGACTTTGTG -3'

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

Posted On

2018-11-28