Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Mrgprb1'

398796

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb1

Ensembl Gene

ENSMUSG00000070547

Gene Name

MAS-related GPR, member B1

Synonyms

MrgB1

MMRRC Submission

042820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48444113-48456342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48447477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 229 (V229E)

Ref Sequence

ENSEMBL: ENSMUSP00000091946 (fasta)

Gene Model

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

AlphaFold

Q3UG61

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094384
AA Change: V229E

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: V229E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188918

SMART Domains

Protein: ENSMUSP00000140432
Gene: ENSMUSG00000070547

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: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,620,231 (GRCm38)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,060,922 (GRCm38)	D394G	probably damaging	Het
Adam18	T	C	8: 24,625,852 (GRCm38)	T609A	probably benign	Het
Adam25	T	A	8: 40,755,954 (GRCm38)	N752K	probably benign	Het
Ano6	A	C	15: 95,913,588 (GRCm38)	S176R	probably benign	Het
Ano7	T	C	1: 93,375,196 (GRCm38)	S19P	probably benign	Het
Ap1b1	A	G	11: 5,026,364 (GRCm38)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,265,637 (GRCm38)	C46*	probably null	Het
Arhgef26	T	A	3: 62,340,560 (GRCm38)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 141,065,070 (GRCm38)	T219I	probably damaging	Het
Bap1	C	T	14: 31,257,286 (GRCm38)		probably benign	Het
Catip	T	G	1: 74,362,795 (GRCm38)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,758,508 (GRCm38)	R331C	unknown	Het
Cep85l	T	C	10: 53,319,594 (GRCm38)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm38)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,073,736 (GRCm38)	C352R	probably damaging	Het
Clic6	A	T	16: 92,539,451 (GRCm38)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,293,073 (GRCm38)		probably benign	Het
Cyb5r3	A	C	15: 83,158,635 (GRCm38)		probably benign	Het
Dnah6	C	T	6: 73,113,488 (GRCm38)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,902,440 (GRCm38)	R296L	probably damaging	Het
Dtwd1	C	A	2: 126,154,774 (GRCm38)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,516,574 (GRCm38)	V723L	probably benign	Het
Fbxo42	T	C	4: 141,199,024 (GRCm38)	L339P	probably damaging	Het
Furin	A	T	7: 80,393,421 (GRCm38)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,483,363 (GRCm38)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,897 (GRCm38)	D207G	probably damaging	Het
Hlf	A	G	11: 90,387,806 (GRCm38)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,649 (GRCm38)	Q174*	probably null	Het
Kcnb1	T	A	2: 167,105,183 (GRCm38)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm38)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,696,725 (GRCm38)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,169,228 (GRCm38)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,998,440 (GRCm38)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,137,914 (GRCm38)	V372L	probably benign	Het
Lig1	C	T	7: 13,308,507 (GRCm38)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,462,564 (GRCm38)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,115,121 (GRCm38)	H10Y	probably benign	Het
Med1	A	T	11: 98,157,240 (GRCm38)	M910K	probably benign	Het
Mia2	A	T	12: 59,108,125 (GRCm38)	D209V	probably damaging	Het
Mpp4	C	T	1: 59,144,858 (GRCm38)		probably benign	Het
Mtor	T	A	4: 148,463,732 (GRCm38)	C485S	probably damaging	Het
Mx1	T	C	16: 97,457,428 (GRCm38)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,783,233 (GRCm38)	D740G	probably benign	Het
Myt1l	G	A	12: 29,832,332 (GRCm38)	G509R	unknown	Het
Nav2	G	A	7: 49,535,913 (GRCm38)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,461,166 (GRCm38)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,618,259 (GRCm38)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,966,209 (GRCm38)	A164T	probably benign	Het
Or8b51	A	G	9: 38,658,078 (GRCm38)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,757,433 (GRCm38)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,463,753 (GRCm38)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,646,996 (GRCm38)		probably benign	Het
Phf21a	C	T	2: 92,228,477 (GRCm38)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,108,130 (GRCm38)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,779,144 (GRCm38)		probably benign	Het
Ptprq	T	C	10: 107,699,635 (GRCm38)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,762,814 (GRCm38)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,213,000 (GRCm38)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,523,117 (GRCm38)	E23G	probably benign	Het
Rpia	G	T	6: 70,783,579 (GRCm38)	C121*	probably null	Het
Sanbr	A	G	11: 23,575,483 (GRCm38)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,998,697 (GRCm38)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,137,734 (GRCm38)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,162,065 (GRCm38)		probably benign	Het
Slamf6	A	C	1: 171,936,682 (GRCm38)	N214T	probably damaging	Het
Slc7a2	T	C	8: 40,908,093 (GRCm38)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,671,178 (GRCm38)		probably null	Het
Spink7	A	T	18: 62,592,436 (GRCm38)	F79I	possibly damaging	Het
Srpk3	C	T	X: 73,774,949 (GRCm38)	R82*	probably null	Het
Sspo	A	T	6: 48,493,310 (GRCm38)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,676,859 (GRCm38)	K700R	probably benign	Het
Tcf25	G	T	8: 123,388,633 (GRCm38)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,071,783 (GRCm38)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,546,789 (GRCm38)	D685G	unknown	Het
Themis	G	T	10: 28,761,199 (GRCm38)	E100*	probably null	Het
Tmem52b	G	A	6: 129,514,258 (GRCm38)		probably null	Het
Tnr	C	T	1: 159,684,656 (GRCm38)		probably benign	Het
Tox3	T	C	8: 90,248,816 (GRCm38)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm38)	E269V	probably benign	Het
Tulp1	C	T	17: 28,362,677 (GRCm38)		probably benign	Het
Tymp	GC	GCC	15: 89,374,364 (GRCm38)		probably null	Het
Ube2j2	A	C	4: 155,949,058 (GRCm38)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,492,608 (GRCm38)	M1K	probably null	Het
Vmn2r52	C	A	7: 10,176,270 (GRCm38)	R6L	probably benign	Het
Zbed4	G	A	15: 88,781,087 (GRCm38)	V453M	probably benign	Het
Zfp319	T	C	8: 95,328,471 (GRCm38)	E368G	probably benign	Het
Zfp366	A	C	13: 99,229,609 (GRCm38)	E426A	probably damaging	Het
Zfp687	A	T	3: 95,009,466 (GRCm38)	I783N	probably damaging	Het

Other mutations in Mrgprb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Mrgprb1	APN	7	48,447,543 (GRCm38)	missense	probably damaging	0.99
IGL01141:Mrgprb1	APN	7	48,448,027 (GRCm38)	missense	probably benign	0.36
IGL01393:Mrgprb1	APN	7	48,448,006 (GRCm38)	missense	possibly damaging	0.48
IGL02430:Mrgprb1	APN	7	48,447,661 (GRCm38)	missense	possibly damaging	0.95
IGL02485:Mrgprb1	APN	7	48,447,717 (GRCm38)	missense	possibly damaging	0.88
R0026:Mrgprb1	UTSW	7	48,447,204 (GRCm38)	missense	possibly damaging	0.66
R0051:Mrgprb1	UTSW	7	48,447,214 (GRCm38)	missense	probably benign	0.01
R0789:Mrgprb1	UTSW	7	48,456,184 (GRCm38)	splice site	probably benign
R1223:Mrgprb1	UTSW	7	48,447,687 (GRCm38)	missense	possibly damaging	0.61
R1327:Mrgprb1	UTSW	7	48,447,429 (GRCm38)	missense	possibly damaging	0.87
R1456:Mrgprb1	UTSW	7	48,448,029 (GRCm38)	missense	probably damaging	0.98
R1561:Mrgprb1	UTSW	7	48,447,125 (GRCm38)	splice site	probably null
R1567:Mrgprb1	UTSW	7	48,447,453 (GRCm38)	missense	probably damaging	0.97
R2030:Mrgprb1	UTSW	7	48,447,328 (GRCm38)	missense	possibly damaging	0.83
R2165:Mrgprb1	UTSW	7	48,447,322 (GRCm38)	missense	probably benign	0.00
R2885:Mrgprb1	UTSW	7	48,447,721 (GRCm38)	missense	probably damaging	1.00
R3108:Mrgprb1	UTSW	7	48,447,328 (GRCm38)	missense	possibly damaging	0.93
R3919:Mrgprb1	UTSW	7	48,448,081 (GRCm38)	missense	probably benign	0.03
R4021:Mrgprb1	UTSW	7	48,447,123 (GRCm38)	missense	possibly damaging	0.95
R4613:Mrgprb1	UTSW	7	48,447,708 (GRCm38)	missense	possibly damaging	0.91
R4809:Mrgprb1	UTSW	7	48,447,991 (GRCm38)	missense	possibly damaging	0.89
R5425:Mrgprb1	UTSW	7	48,447,971 (GRCm38)	missense	possibly damaging	0.81
R5555:Mrgprb1	UTSW	7	48,447,775 (GRCm38)	missense	probably benign	0.06
R5595:Mrgprb1	UTSW	7	48,447,684 (GRCm38)	missense	probably damaging	0.99
R5982:Mrgprb1	UTSW	7	48,447,820 (GRCm38)	missense	probably benign	0.01
R6746:Mrgprb1	UTSW	7	48,447,897 (GRCm38)	missense	possibly damaging	0.82
R7066:Mrgprb1	UTSW	7	48,447,676 (GRCm38)	missense	probably benign	0.27
R7141:Mrgprb1	UTSW	7	48,447,687 (GRCm38)	missense	possibly damaging	0.61
R7633:Mrgprb1	UTSW	7	48,447,583 (GRCm38)	missense	probably benign	0.01
R8072:Mrgprb1	UTSW	7	48,448,147 (GRCm38)	nonsense	probably null
R8080:Mrgprb1	UTSW	7	48,446,910 (GRCm38)	splice site	probably null
R8112:Mrgprb1	UTSW	7	48,447,934 (GRCm38)	missense	probably damaging	0.97
R8493:Mrgprb1	UTSW	7	48,447,573 (GRCm38)	missense	probably damaging	0.99
R8817:Mrgprb1	UTSW	7	48,447,322 (GRCm38)	missense	probably benign	0.01
R9135:Mrgprb1	UTSW	7	48,447,298 (GRCm38)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGGTTGGCACAGCTGTTAATAC -3'
(R):5'- GGCACACATCAGCTGTCATATG -3'

Sequencing Primer
(F):5'- CAGGACAGAAATATTGTCACGTTACG -3'
(R):5'- GCACACATCAGCTGTCATATGTACTG -3'

Posted On

2016-07-06