Mutagenetix > Incidental Mutations

Incidental Mutation 'R4521:Mrgpra9'

334221

Institutional Source

Beutler Lab

Gene Symbol

Mrgpra9

Ensembl Gene

ENSMUSG00000074111

Gene Name

MAS-related GPR, member A9

Synonyms

EG668725, MrgA9

MMRRC Submission

041764-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4521 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47234861-47252848 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47235190 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 243 (L243H)

Ref Sequence

ENSEMBL: ENSMUSP00000136396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098436] [ENSMUST00000179005]

Predicted Effect

probably damaging
Transcript: ENSMUST00000098436
AA Change: L242H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096035
Gene: ENSMUSG00000074111
AA Change: L242H

Domain	Start	End	E-Value	Type
low complexity region	37	48	N/A	INTRINSIC
Pfam:7tm_1	56	225	1.5e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179005
AA Change: L243H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136396
Gene: ENSMUSG00000074111
AA Change: L243H

Domain	Start	End	E-Value	Type
Pfam:7tm_1	12	178	3.4e-9	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,660,670	N700D	probably benign	Het
Bora	G	T	14: 99,068,548	S451I	probably damaging	Het
Cadm3	A	T	1: 173,345,063		probably null	Het
Car14	A	G	3: 95,904,378		probably benign	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Cdc20b	A	G	13: 113,081,191	I381M	probably damaging	Het
Col12a1	C	T	9: 79,633,357	V2449I	probably benign	Het
Crb2	T	C	2: 37,795,337		probably benign	Het
Dcaf6	A	T	1: 165,390,490	D347E	probably damaging	Het
Dlgap2	G	A	8: 14,727,871	R372H	probably damaging	Het
Fat3	T	C	9: 15,922,942	N4118S	probably null	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fpr2	A	C	17: 17,893,247	R168S	probably benign	Het
Ghr	A	G	15: 3,325,958	I281T	probably damaging	Het
Glmp	C	A	3: 88,328,039	N259K	possibly damaging	Het
Grhl3	T	C	4: 135,546,250	K564E	probably damaging	Het
Helz2	T	C	2: 181,228,833	H2875R	probably benign	Het
Lcp1	A	G	14: 75,215,168	D438G	possibly damaging	Het
Lrfn2	T	A	17: 49,069,894	M1K	probably null	Het
Lrp6	A	G	6: 134,485,862	C612R	probably damaging	Het
Map3k13	T	C	16: 21,905,775	V341A	possibly damaging	Het
Megf8	T	A	7: 25,342,701	C1315S	probably benign	Het
Mrgprx1	T	C	7: 48,021,699	D100G	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Nup93	T	C	8: 94,314,636	Y801H	probably damaging	Het
Olfr623	C	T	7: 103,660,332	R306H	probably benign	Het
Olfr810	T	A	10: 129,791,181	N136I	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Plce1	T	C	19: 38,524,319	S21P	possibly damaging	Het
Plpp2	A	G	10: 79,530,625	Y118H	probably damaging	Het
Ppwd1	A	G	13: 104,209,659	V496A	probably benign	Het
Rbm20	A	G	19: 53,817,202	N466S	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Skida1	T	C	2: 18,045,872		probably benign	Het
Stk17b	A	G	1: 53,764,038	Y73H	probably damaging	Het
Tapbpl	A	G	6: 125,228,122	I287T	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Topbp1	T	C	9: 103,334,202		probably benign	Het
Tsen54	G	A	11: 115,817,106		probably null	Het
Ttn	G	A	2: 76,725,216	R28736*	probably null	Het
Wdr36	G	A	18: 32,841,148		probably null	Het

Other mutations in Mrgpra9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Mrgpra9	APN	7	47235091	missense	possibly damaging	0.85
IGL00575:Mrgpra9	APN	7	47235305	missense	possibly damaging	0.76
IGL01649:Mrgpra9	APN	7	47235152	missense	probably benign	0.22
IGL03207:Mrgpra9	APN	7	47235637	missense	possibly damaging	0.68
R0388:Mrgpra9	UTSW	7	47252794	start codon destroyed	probably null	0.08
R0972:Mrgpra9	UTSW	7	47235455	missense	probably damaging	0.99
R1270:Mrgpra9	UTSW	7	47252783	critical splice donor site	probably null
R1381:Mrgpra9	UTSW	7	47235302	missense	possibly damaging	0.75
R1403:Mrgpra9	UTSW	7	47235638	missense	probably benign	0.24
R1403:Mrgpra9	UTSW	7	47235638	missense	probably benign	0.24
R1448:Mrgpra9	UTSW	7	47235813	missense	probably benign	0.02
R2045:Mrgpra9	UTSW	7	47235835	missense	probably benign
R2144:Mrgpra9	UTSW	7	47235463	missense	probably benign	0.31
R2187:Mrgpra9	UTSW	7	47235049	missense	probably damaging	1.00
R2507:Mrgpra9	UTSW	7	47235494	missense	possibly damaging	0.63
R2913:Mrgpra9	UTSW	7	47235080	missense	probably benign
R3810:Mrgpra9	UTSW	7	47235779	missense	probably damaging	0.98
R4177:Mrgpra9	UTSW	7	47235554	missense	probably damaging	1.00
R4781:Mrgpra9	UTSW	7	47235047	missense	possibly damaging	0.88
R4926:Mrgpra9	UTSW	7	47235011	missense	possibly damaging	0.62
R6469:Mrgpra9	UTSW	7	47235106	missense	probably benign	0.02
R6505:Mrgpra9	UTSW	7	47235136	missense	probably benign	0.00
R6724:Mrgpra9	UTSW	7	47235038	missense	probably damaging	1.00
R7398:Mrgpra9	UTSW	7	47235637	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GTCTGGTGCTTCAACCGATG -3'
(R):5'- TGCATTCTGAATAGGTATTTCTGCG -3'

Sequencing Primer
(F):5'- GCTTCAACCGATGCCTGAATGAG -3'
(R):5'- CTGCGGTTTCTTAGATACCAAATATG -3'

Posted On

2015-08-18