Mutagenetix > Incidental Mutation

Incidental Mutation 'R8493:Mrgprb1'

658118

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb1

Ensembl Gene

ENSMUSG00000070547

Gene Name

MAS-related GPR, member B1

Synonyms

MrgB1

MMRRC Submission

067935-MU

Accession Numbers

Essential gene?

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

Stock #

R8493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48444113-48456342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48447573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 197 (I197N)

Ref Sequence

ENSEMBL: ENSMUSP00000091946 (fasta)

Gene Model

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

AlphaFold

Q3UG61

Predicted Effect

probably damaging
Transcript: ENSMUST00000094384
AA Change: I197N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: I197N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,835,589 (GRCm38)	M1L	unknown	Het
4933402N22Rik	T	C	5: 11,921,522 (GRCm38)	L147P	probably damaging	Het
Abca13	T	A	11: 9,510,668 (GRCm38)	I4226N	probably damaging	Het
Ankrd10	C	A	8: 11,628,518 (GRCm38)	E125*	probably null	Het
Apob	A	T	12: 8,009,009 (GRCm38)	D2497V	possibly damaging	Het
Arap1	G	A	7: 101,386,518 (GRCm38)	W87*	probably null	Het
Arhgef37	C	T	18: 61,507,206 (GRCm38)	V261I	probably benign	Het
Arl4a	A	C	12: 40,036,473 (GRCm38)	C92G	probably benign	Het
Arrdc2	C	T	8: 70,836,857 (GRCm38)		probably null	Het
Atg16l1	A	C	1: 87,778,982 (GRCm38)	T355P	probably damaging	Het
Card14	T	G	11: 119,333,609 (GRCm38)		probably null	Het
Cd109	G	A	9: 78,657,519 (GRCm38)	V249I	probably benign	Het
Cdhr4	A	G	9: 107,996,254 (GRCm38)	D395G	probably damaging	Het
Celsr1	C	A	15: 85,938,006 (GRCm38)	M1703I	possibly damaging	Het
Cfap157	A	G	2: 32,779,740 (GRCm38)	I277T	probably benign	Het
Chst4	A	G	8: 110,030,463 (GRCm38)	V173A	probably damaging	Het
Clca4b	T	C	3: 144,912,150 (GRCm38)	N731D	probably benign	Het
Col11a2	A	G	17: 34,059,962 (GRCm38)	E1122G	possibly damaging	Het
Csf1r	C	G	18: 61,114,882 (GRCm38)	P341A	probably damaging	Het
Dclk3	A	G	9: 111,468,147 (GRCm38)	E253G	probably benign	Het
Dnah2	T	A	11: 69,452,978 (GRCm38)	D2829V	probably damaging	Het
Dnah7a	T	C	1: 53,472,908 (GRCm38)	N2998S	probably damaging	Het
Ehbp1	C	T	11: 22,285,842 (GRCm38)		probably benign	Het
Eprs	A	T	1: 185,407,174 (GRCm38)	K919*	probably null	Het
Esp16	A	T	17: 39,539,930 (GRCm38)	K67*	probably null	Het
Fam169a	G	T	13: 97,122,859 (GRCm38)	E474D	probably benign	Het
Fam83h	C	T	15: 76,002,653 (GRCm38)	R945H	probably benign	Het
Flnb	T	A	14: 7,869,822 (GRCm38)	V195E	probably damaging	Het
Gm3159	T	C	14: 4,398,567 (GRCm38)	I86T	probably damaging	Het
Gm3259	C	T	5: 95,340,233 (GRCm38)	H9Y	possibly damaging	Het
Gm4070	A	G	7: 105,898,881 (GRCm38)	S1655P	probably benign	Het
Gm4744	G	A	6: 40,949,347 (GRCm38)	S103F		Het
Ift122	T	A	6: 115,910,331 (GRCm38)	I713N	probably benign	Het
Ilkap	A	G	1: 91,378,544 (GRCm38)	I105T	probably damaging	Het
Isl1	G	T	13: 116,305,299 (GRCm38)	H133N	possibly damaging	Het
Jade1	T	A	3: 41,604,678 (GRCm38)	L398Q	possibly damaging	Het
Kcnh7	C	T	2: 62,850,659 (GRCm38)	V195M	probably benign	Het
Kif3a	A	T	11: 53,598,800 (GRCm38)	K669*	probably null	Het
L3mbtl4	G	A	17: 68,630,244 (GRCm38)	R420H	probably damaging	Het
Mthfd1	A	G	12: 76,294,155 (GRCm38)	T263A	probably damaging	Het
Mtmr7	G	A	8: 40,606,884 (GRCm38)	A62V	possibly damaging	Het
Naxe	A	G	3: 88,058,450 (GRCm38)		probably benign	Het
Ndufs2	T	C	1: 171,241,108 (GRCm38)	T51A	probably benign	Het
Nlrc5	T	A	8: 94,523,220 (GRCm38)	L1824Q	probably damaging	Het
Notch1	A	G	2: 26,472,239 (GRCm38)	V27A	unknown	Het
Nucks1	A	T	1: 131,929,735 (GRCm38)	M169L	probably benign	Het
Olfr1115	T	A	2: 87,252,871 (GRCm38)	D311E	probably benign	Het
Olfr1128	T	A	2: 87,544,770 (GRCm38)	Y258F	probably damaging	Het
Olfr1253	T	A	2: 89,752,255 (GRCm38)	Y191F	probably benign	Het
Olfr1295	T	A	2: 111,564,979 (GRCm38)	H155L	probably damaging	Het
Olfr1342	C	T	4: 118,690,032 (GRCm38)	S140N	probably benign	Het
Olfr612	A	T	7: 103,538,272 (GRCm38)	S321T	probably benign	Het
Olfr659	G	T	7: 104,670,815 (GRCm38)	V38L	probably benign	Het
Pcnt	C	T	10: 76,403,623 (GRCm38)		probably null	Het
Pdcd7	T	C	9: 65,346,757 (GRCm38)	S206P	probably benign	Het
Pdia4	A	T	6: 47,796,641 (GRCm38)	Y591*	probably null	Het
Plxna4	C	T	6: 32,215,712 (GRCm38)	M771I	probably benign	Het
Ptpn13	A	G	5: 103,569,805 (GRCm38)	I1906V	probably benign	Het
Ptpn13	A	G	5: 103,564,165 (GRCm38)	Y1643C	probably damaging	Het
Rab33b	T	A	3: 51,484,374 (GRCm38)	S15T	probably benign	Het
Rasip1	A	T	7: 45,635,043 (GRCm38)	M644L	possibly damaging	Het
Rnf4	G	A	5: 34,348,691 (GRCm38)	C55Y	probably damaging	Het
Sel1l	A	T	12: 91,813,961 (GRCm38)	Y585*	probably null	Het
Slc40a1	A	T	1: 45,911,416 (GRCm38)	F292Y	probably damaging	Het
Smarca4	G	A	9: 21,658,848 (GRCm38)	D716N	probably damaging	Het
Sp7	T	A	15: 102,358,402 (GRCm38)	H323L	possibly damaging	Het
Sprtn	A	G	8: 124,903,194 (GRCm38)	S409G	probably benign	Het
St3gal2	T	G	8: 110,962,221 (GRCm38)	L131R	probably damaging	Het
Tctn1	A	G	5: 122,261,489 (GRCm38)	C91R	probably damaging	Het
Tgm1	A	T	14: 55,700,297 (GRCm38)	V785E	probably damaging	Het
Tmem8	G	T	17: 26,121,957 (GRCm38)	R678L	probably damaging	Het
Topaz1	G	T	9: 122,750,508 (GRCm38)	V828L	probably benign	Het
Triobp	C	T	15: 78,994,126 (GRCm38)	H1750Y	possibly damaging	Het
Ttc27	G	A	17: 74,743,052 (GRCm38)		probably null	Het
Usp2	G	A	9: 44,076,053 (GRCm38)	G216D	possibly damaging	Het
Vmn2r99	A	G	17: 19,393,758 (GRCm38)	D580G	probably benign	Het
Wbp1l	G	A	19: 46,652,549 (GRCm38)	R106H	possibly damaging	Het
Zmym2	G	T	14: 56,914,149 (GRCm38)	C497F	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
R5249:Mrgprb1	UTSW	7	48,447,477 (GRCm38)	missense	possibly damaging	0.91
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
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'- ACTCTAAGAGGAACCAGTAGATCCC -3'
(R):5'- AGTGGTCTGAGCATCCTCAC -3'

Sequencing Primer
(F):5'- GTAGATCCCATAGGGCAGACC -3'
(R):5'- TCACTGTCATTAGCACTGAACG -3'

Posted On

2021-01-18