Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Mrgprb1'

672799

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb1

Ensembl Gene

ENSMUSG00000070547

Gene Name

MAS-related GPR, member B1

Synonyms

MrgB1

MMRRC Submission

068727-MU

Accession Numbers

Essential gene?

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

Stock #

R8817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48444113-48456342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48447322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 281 (I281F)

Ref Sequence

ENSEMBL: ENSMUSP00000091946 (fasta)

Gene Model

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

AlphaFold

Q3UG61

Predicted Effect

probably benign
Transcript: ENSMUST00000094384
AA Change: I281F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: I281F

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: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,673,791 (GRCm38)	V139A	probably benign	Het
Aass	A	T	6: 23,097,196 (GRCm38)	Y41*	probably null	Het
AI429214	G	A	8: 36,994,114 (GRCm38)	V139I	probably benign	Het
Cacna1a	G	A	8: 84,638,797 (GRCm38)	A2190T	probably benign	Het
Cstpp1	A	G	2: 91,276,998 (GRCm38)	Y320H	probably benign	Het
Cutc	T	C	19: 43,755,674 (GRCm38)	V38A	probably benign	Het
Cxcl10	G	T	5: 92,347,371 (GRCm38)	P98H	probably damaging	Het
Dop1a	T	C	9: 86,513,950 (GRCm38)	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,624,287 (GRCm38)	L117P	probably damaging	Het
Emc3	A	G	6: 113,515,907 (GRCm38)	F261S	probably damaging	Het
Ephx2	T	C	14: 66,107,276 (GRCm38)	T200A	probably benign	Het
Eri1	A	C	8: 35,478,638 (GRCm38)	D164E	probably damaging	Het
Ethe1	T	C	7: 24,606,302 (GRCm38)	I158T	probably damaging	Het
Fancm	C	T	12: 65,120,557 (GRCm38)	R1547C	probably damaging	Het
Fer1l4	T	A	2: 156,048,223 (GRCm38)	T261S	probably damaging	Het
Fyb2	A	G	4: 104,945,455 (GRCm38)	R185G	probably benign	Het
Gabrp	A	T	11: 33,554,464 (GRCm38)	S284T	possibly damaging	Het
Gga2	G	A	7: 121,991,622 (GRCm38)	R488*	probably null	Het
Gm9758	A	G	5: 14,912,216 (GRCm38)	L126S	probably damaging	Het
Gse1	T	C	8: 120,567,803 (GRCm38)	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,770,085 (GRCm38)	S2P	probably damaging	Het
Hmmr	G	A	11: 40,721,672 (GRCm38)	S206F	probably damaging	Het
Huwe1	A	G	X: 151,886,997 (GRCm38)	K1482R	probably benign	Het
Lama2	A	T	10: 27,187,873 (GRCm38)	W1307R	probably damaging	Het
Map3k6	A	G	4: 133,246,760 (GRCm38)	K517E	probably benign	Het
Mbl1	T	A	14: 41,153,598 (GRCm38)	L3Q	unknown	Het
Mepe	G	T	5: 104,337,285 (GRCm38)	R97L	probably benign	Het
Minpp1	T	A	19: 32,486,347 (GRCm38)	M136K	possibly damaging	Het
Naip5	T	C	13: 100,212,699 (GRCm38)	I1374V	probably benign	Het
Or14j8	A	G	17: 37,952,382 (GRCm38)	I214T	probably damaging	Het
Or4c12	A	G	2: 89,943,446 (GRCm38)	L223S	probably damaging	Het
Or52e19b	A	T	7: 103,383,618 (GRCm38)	I128N	probably damaging	Het
Or8g34	C	T	9: 39,462,091 (GRCm38)	S217F	probably damaging	Het
Or8g37	G	T	9: 39,819,643 (GRCm38)	M1I	probably null	Het
Pamr1	T	G	2: 102,634,421 (GRCm38)	V305G	probably benign	Het
Pcbp3	T	C	10: 76,789,836 (GRCm38)	T125A	probably benign	Het
Peli2	G	A	14: 48,252,673 (GRCm38)	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 72,051,068 (GRCm38)	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,818,573 (GRCm38)	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,333,509 (GRCm38)		probably benign	Het
Prpf40a	T	C	2: 53,152,959 (GRCm38)	K480E	probably damaging	Het
Psd3	A	G	8: 67,960,483 (GRCm38)	I465T	possibly damaging	Het
Pskh1	C	T	8: 105,929,720 (GRCm38)	R343W	probably damaging	Het
Ptprz1	A	T	6: 23,007,372 (GRCm38)	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,670,351 (GRCm38)	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,024 (GRCm38)		probably benign	Het
Recql	G	A	6: 142,358,886 (GRCm38)		probably benign	Het
Rnf40	T	C	7: 127,597,160 (GRCm38)	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,030,636 (GRCm38)	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,140,599 (GRCm38)	V468A	probably benign	Het
Ryr2	T	A	13: 11,735,623 (GRCm38)	I1921F	possibly damaging	Het
Sirpa	G	A	2: 129,593,638 (GRCm38)	G9D	unknown	Het
Slc28a2b	A	T	2: 122,518,507 (GRCm38)	T305S	possibly damaging	Het
Slc40a1	A	C	1: 45,909,539 (GRCm38)	V527G	probably damaging	Het
Smarca4	T	A	9: 21,636,201 (GRCm38)	M260K	probably benign	Het
Smarca5	A	T	8: 80,733,750 (GRCm38)	M119K	probably benign	Het
Smg1	A	G	7: 118,159,664 (GRCm38)	V2206A	unknown	Het
Sp4	A	T	12: 118,261,889 (GRCm38)	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,034,562 (GRCm38)	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069 (GRCm38)		probably null	Het
Srcap	T	C	7: 127,553,223 (GRCm38)	S2220P	probably benign	Het
Stra6	G	T	9: 58,151,982 (GRCm38)	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,874,128 (GRCm38)	F1626I	probably benign	Het
Tjp1	T	C	7: 65,303,062 (GRCm38)	N1508S	probably benign	Het
Trrap	T	A	5: 144,845,538 (GRCm38)	L3298Q	probably damaging	Het
Tsn	A	G	1: 118,304,740 (GRCm38)	L135P	probably damaging	Het
Ttl	A	T	2: 129,068,858 (GRCm38)	H54L	probably damaging	Het
Ttn	T	A	2: 76,829,907 (GRCm38)	T12110S	unknown	Het
Uba6	T	C	5: 86,148,913 (GRCm38)	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425 (GRCm38)	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172 (GRCm38)		probably benign	Het
Ush2a	A	T	1: 188,263,034 (GRCm38)	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,843,134 (GRCm38)	V158F	probably benign	Het
Wif1	A	G	10: 121,096,716 (GRCm38)	H333R	possibly damaging	Het
Zfp282	T	A	6: 47,904,826 (GRCm38)	N482K	probably benign	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
R8493:Mrgprb1	UTSW	7	48,447,573 (GRCm38)	missense	probably damaging	0.99
R9135:Mrgprb1	UTSW	7	48,447,298 (GRCm38)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGATCAAAGCAGCTCTCAGTCC -3'
(R):5'- TGGCCTTGGTGCTTACCATC -3'

Sequencing Primer
(F):5'- GCTCTCAGTCCCTTCCAGACAG -3'
(R):5'- GGTGCTTACCATCTTCTGTGGC -3'

Posted On

2021-04-30