Mutagenetix > Incidental Mutation

Incidental Mutation 'R6724:Mrgpra9'

529762

Institutional Source

Beutler Lab

Gene Symbol

Mrgpra9

Ensembl Gene

ENSMUSG00000074111

Gene Name

MAS-related GPR, member A9

Synonyms

EG668725, MrgA9

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47234861-47252848 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47235038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 293 (S293P)

Ref Sequence

ENSEMBL: ENSMUSP00000096035 (fasta)

Gene Model

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

AlphaFold

A0A140T8U8

Predicted Effect

probably damaging
Transcript: ENSMUST00000098436
AA Change: S293P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096035
Gene: ENSMUSG00000074111
AA Change: S293P

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: S294P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136396
Gene: ENSMUSG00000074111
AA Change: S294P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	A	16: 85,868,557	T619S	probably benign	Het
Adgra2	G	A	8: 27,114,182	A467T	possibly damaging	Het
AF366264	A	T	8: 13,837,083	L336Q	probably damaging	Het
Alox5	A	T	6: 116,414,548	I416N	probably damaging	Het
Blmh	A	G	11: 76,971,907		probably null	Het
Cftr	T	A	6: 18,255,974	Y567*	probably null	Het
Cnr1	T	A	4: 33,944,728	M372K	possibly damaging	Het
Col6a3	T	C	1: 90,779,152	T2080A	unknown	Het
Crybg3	A	T	16: 59,544,138	C2374S	probably benign	Het
Csmd2	A	G	4: 128,563,371	I3544V	probably damaging	Het
Dnah12	A	T	14: 26,796,223	D1809V	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dnajb12	A	G	10: 59,892,780	D190G	possibly damaging	Het
Dtnb	T	A	12: 3,686,817	V319D	probably damaging	Het
Ercc6	A	T	14: 32,566,331	E820V	probably benign	Het
Fip1l1	T	G	5: 74,591,774	V378G	probably damaging	Het
Gabrg1	T	A	5: 70,754,209	Y358F	possibly damaging	Het
Gcn1l1	T	G	5: 115,609,158		probably null	Het
Gm11011	T	A	2: 169,587,482	T28S	unknown	Het
Gm13762	T	G	2: 88,973,268	I208L	probably benign	Het
Gm14025	A	C	2: 129,038,056	V650G	probably benign	Het
Gm4027	A	T	12: 87,621,984	I129F	unknown	Het
Guf1	C	A	5: 69,566,393	N438K	probably damaging	Het
Hoxa7	T	C	6: 52,215,739	E223G	probably benign	Het
Hspg2	G	A	4: 137,515,307	G611E	probably damaging	Het
Ipo8	A	T	6: 148,809,975		probably null	Het
Isl2	A	G	9: 55,541,288	D3G	possibly damaging	Het
Kcnb2	A	G	1: 15,710,440	Y512C	probably damaging	Het
Kifc1	T	A	17: 33,886,733		probably null	Het
Klhdc10	A	G	6: 30,446,641	D183G	probably damaging	Het
Klra5	T	A	6: 129,906,680	K71N	probably benign	Het
Lrp6	T	C	6: 134,486,541	H559R	possibly damaging	Het
Maml3	T	C	3: 51,855,875	N556S	probably damaging	Het
Man2a1	A	G	17: 64,731,269	I83V	possibly damaging	Het
Nalcn	A	G	14: 123,298,067	S1282P	probably damaging	Het
Npepps	A	T	11: 97,206,002		probably benign	Het
Olfr1037	A	T	2: 86,085,357	V140E	possibly damaging	Het
Olfr1154	T	G	2: 87,903,602	S25R	probably benign	Het
Olfr1245	A	T	2: 89,574,965	F254I	probably benign	Het
Pkn3	C	A	2: 30,090,550	R818S	possibly damaging	Het
Plekha3	T	A	2: 76,687,401	H190Q	probably damaging	Het
Ppp2r3c	A	T	12: 55,288,496	S261T	probably benign	Het
Ptprj	T	C	2: 90,450,851	D1015G	probably benign	Het
Pus10	T	C	11: 23,729,037	M503T	possibly damaging	Het
Pvr	T	C	7: 19,918,679	R104G	possibly damaging	Het
Rubcnl	A	G	14: 75,052,010	R653G	probably benign	Het
Serpina1a	G	T	12: 103,860,420		probably benign	Het
Shank3	G	A	15: 89,532,453	R265Q	probably damaging	Het
Slc22a22	C	T	15: 57,247,532	R433H	probably damaging	Het
Slc22a26	A	G	19: 7,802,361	I30T	probably benign	Het
Spz1	A	T	13: 92,575,484	N161K	possibly damaging	Het
Tacc2	A	G	7: 130,728,762	R259G	probably damaging	Het
Top1	G	A	2: 160,712,696	V456M	probably damaging	Het
Tpcn2	G	A	7: 145,256,520	A649V	probably benign	Het
Trank1	C	G	9: 111,365,916	R1003G	probably damaging	Het
Tril	T	A	6: 53,819,574	H221L	possibly damaging	Het
Unc79	C	T	12: 103,104,861	T1305I	probably damaging	Het
Unc80	C	T	1: 66,683,191	A2988V	possibly damaging	Het
Vmn1r81	A	T	7: 12,260,672	M3K	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het
Vwa3b	G	A	1: 37,045,031	R95Q	probably damaging	Het
Wdr6	G	A	9: 108,574,894	H597Y	probably benign	Het
Yme1l1	C	T	2: 23,194,762	T624I	probably damaging	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
R4521:Mrgpra9	UTSW	7	47235190	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
R7398:Mrgpra9	UTSW	7	47235637	missense	possibly damaging	0.68
R8737:Mrgpra9	UTSW	7	47235876	missense	probably benign	0.00
R8824:Mrgpra9	UTSW	7	47235293	missense	probably benign	0.06
R8881:Mrgpra9	UTSW	7	47235494	missense	possibly damaging	0.63
R9320:Mrgpra9	UTSW	7	47235644	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGACAGTGGTCAATTGCAGC -3'
(R):5'- GCGGATGAAGCTTACCAGATTG -3'

Sequencing Primer
(F):5'- CAGGGAAGTGCTCACTCCAAAG -3'
(R):5'- GAAGCTTACCAGATTGTACGTGACC -3'

Posted On

2018-08-01