Mutagenetix > Incidental Mutations

Incidental Mutation 'R0026:Mrgprb1'

189170

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb1

Ensembl Gene

ENSMUSG00000070547

Gene Name

MAS-related GPR, member B1

Synonyms

MrgB1

MMRRC Submission

038321-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

48444113-48456342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48447204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 108 (R108G)

Ref Sequence

ENSEMBL: ENSMUSP00000140432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094384] [ENSMUST00000188095] [ENSMUST00000188918]

AlphaFold

Q3UG61

Predicted Effect

probably benign
Transcript: ENSMUST00000094384
AA Change: E320G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: E320G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	50	227	5.5e-11	PFAM
Pfam:7tm_1	59	290	4.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188095
AA Change: E27G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188918
AA Change: R108G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140432
Gene: ENSMUSG00000070547
AA Change: R108G

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	23	84	3e-6	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,805	I585N	possibly damaging	Het
4931408C20Rik	T	A	1: 26,683,369	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372		probably benign	Het
Abca16	C	T	7: 120,477,923		probably benign	Het
Acot10	G	A	15: 20,666,236	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400		probably benign	Het
Cdc16	T	A	8: 13,759,130		probably null	Het
Cep135	C	T	5: 76,606,734	R353*	probably null	Het
Cma1	A	T	14: 55,942,164	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,647,521	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,477,784	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909		probably benign	Het
Got1l1	C	T	8: 27,200,248	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527		probably benign	Het
Ibtk	A	G	9: 85,690,303	V1278A	probably benign	Het
Kctd3	T	C	1: 188,976,621	T519A	probably damaging	Het
Lgsn	T	A	1: 31,203,443	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708	F381L	possibly damaging	Het
Map1s	G	A	8: 70,914,638	G729D	probably damaging	Het
Mlycd	A	G	8: 119,410,435	I465V	probably benign	Het
Mrgprx2	T	A	7: 48,482,023	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573	S3P	probably damaging	Het
Olfr109	T	A	17: 37,466,803	V199D	probably damaging	Het
Olfr921	G	A	9: 38,775,596	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930		probably benign	Het
Prpf31	T	A	7: 3,639,668	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161	S307P	probably benign	Het
Relt	C	A	7: 100,850,221	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468		probably benign	Het
Slc35b1	T	C	11: 95,390,642	S294P	probably benign	Het
Slc5a2	T	A	7: 128,270,053	I335N	probably damaging	Het
Sstr1	T	A	12: 58,212,858	M89K	probably damaging	Het
Szt2	A	T	4: 118,384,772	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236		probably null	Het
Taf1d	T	A	9: 15,308,648	S64R	probably damaging	Het
Tmem125	A	G	4: 118,542,073	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371		probably null	Het
Unc5b	A	T	10: 60,774,592	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196		probably benign	Het
Vmn2r61	T	G	7: 42,275,474	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160	L240*	probably null	Het

Other mutations in Mrgprb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Mrgprb1	APN	7	48447543	missense	probably damaging	0.99
IGL01141:Mrgprb1	APN	7	48448027	missense	probably benign	0.36
IGL01393:Mrgprb1	APN	7	48448006	missense	possibly damaging	0.48
IGL02430:Mrgprb1	APN	7	48447661	missense	possibly damaging	0.95
IGL02485:Mrgprb1	APN	7	48447717	missense	possibly damaging	0.88
R0051:Mrgprb1	UTSW	7	48447214	missense	probably benign	0.01
R0789:Mrgprb1	UTSW	7	48456184	splice site	probably benign
R1223:Mrgprb1	UTSW	7	48447687	missense	possibly damaging	0.61
R1327:Mrgprb1	UTSW	7	48447429	missense	possibly damaging	0.87
R1456:Mrgprb1	UTSW	7	48448029	missense	probably damaging	0.98
R1561:Mrgprb1	UTSW	7	48447125	splice site	probably null
R1567:Mrgprb1	UTSW	7	48447453	missense	probably damaging	0.97
R2030:Mrgprb1	UTSW	7	48447328	missense	possibly damaging	0.83
R2165:Mrgprb1	UTSW	7	48447322	missense	probably benign	0.00
R2885:Mrgprb1	UTSW	7	48447721	missense	probably damaging	1.00
R3108:Mrgprb1	UTSW	7	48447328	missense	possibly damaging	0.93
R3919:Mrgprb1	UTSW	7	48448081	missense	probably benign	0.03
R4021:Mrgprb1	UTSW	7	48447123	missense	possibly damaging	0.95
R4613:Mrgprb1	UTSW	7	48447708	missense	possibly damaging	0.91
R4809:Mrgprb1	UTSW	7	48447991	missense	possibly damaging	0.89
R5249:Mrgprb1	UTSW	7	48447477	missense	possibly damaging	0.91
R5425:Mrgprb1	UTSW	7	48447971	missense	possibly damaging	0.81
R5555:Mrgprb1	UTSW	7	48447775	missense	probably benign	0.06
R5595:Mrgprb1	UTSW	7	48447684	missense	probably damaging	0.99
R5982:Mrgprb1	UTSW	7	48447820	missense	probably benign	0.01
R6746:Mrgprb1	UTSW	7	48447897	missense	possibly damaging	0.82
R7066:Mrgprb1	UTSW	7	48447676	missense	probably benign	0.27
R7141:Mrgprb1	UTSW	7	48447687	missense	possibly damaging	0.61
R7633:Mrgprb1	UTSW	7	48447583	missense	probably benign	0.01
R8072:Mrgprb1	UTSW	7	48448147	nonsense	probably null
R8080:Mrgprb1	UTSW	7	48446910	splice site	probably null
R8112:Mrgprb1	UTSW	7	48447934	missense	probably damaging	0.97
R8493:Mrgprb1	UTSW	7	48447573	missense	probably damaging	0.99
R8817:Mrgprb1	UTSW	7	48447322	missense	probably benign	0.01
R9135:Mrgprb1	UTSW	7	48447298	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGGAGTTGGTAAAGCTCTGAGCAAG -3'
(R):5'- TTCTGTGGCTTACACAAGGTTCCTG -3'

Sequencing Primer
(F):5'- GCTCTGAGCAAGATAGCTGC -3'
(R):5'- TTACACAAGGTTCCTGTGACCAG -3'

Posted On

2014-05-13