Mutagenetix > Incidental Mutations

Incidental Mutation 'R2277:Mrgprb5'

242854

Institutional Source

Beutler Lab

Gene Symbol

Mrgprb5

Ensembl Gene

ENSMUSG00000070551

Gene Name

MAS-related GPR, member B5

Synonyms

MrgB5

MMRRC Submission

040276-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48167983-48169019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48168831 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 52 (L52P)

Ref Sequence

ENSEMBL: ENSMUSP00000091953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094389]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094389
AA Change: L52P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091953
Gene: ENSMUSG00000070551
AA Change: L52P

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
Pfam:7TM_GPCR_Srx	38	217	1.4e-8	PFAM
Pfam:7tm_1	47	210	1.7e-7	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13d	T	C	19: 4,280,984	H165R	probably benign	Het
Arhgap21	T	C	2: 20,863,226	I829V	possibly damaging	Het
Atxn1	T	C	13: 45,557,068	N796S	probably damaging	Het
Bdp1	C	A	13: 100,061,330	S849I	probably benign	Het
Bdp1	T	A	13: 100,061,339	E846V	probably damaging	Het
Cdh4	C	A	2: 179,797,524	H155N	possibly damaging	Het
Cela3a	T	C	4: 137,405,876	I62V	possibly damaging	Het
Cr2	T	C	1: 195,157,368	R960G	possibly damaging	Het
Ddx42	T	A	11: 106,242,939	D580E	probably damaging	Het
Dnah17	T	C	11: 118,096,561	K1308E	possibly damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Gh	T	C	11: 106,300,787	E143G	probably damaging	Het
Hcn3	C	A	3: 89,147,861	R693L	probably benign	Het
Hdlbp	G	A	1: 93,408,178	R1199*	probably null	Het
Hook2	C	T	8: 85,002,931	Q667*	probably null	Het
Ibtk	T	C	9: 85,703,151	I1147V	probably benign	Het
Itpk1	T	C	12: 102,570,260	T376A	probably benign	Het
Lars	C	T	18: 42,235,502	V425I	probably benign	Het
Lgi4	T	G	7: 31,060,612	L78V	probably damaging	Het
Madd	A	T	2: 91,143,683	C1419S	possibly damaging	Het
Mamld1	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	X: 71,118,815		probably benign	Het
Mpp2	T	C	11: 102,064,301	E166G	probably damaging	Het
Nlrp2	T	C	7: 5,328,129	T423A	probably benign	Het
Nphs1	T	A	7: 30,467,564	L732*	probably null	Het
Pcdhb10	T	C	18: 37,412,624	I251T	possibly damaging	Het
Plcg1	T	A	2: 160,755,805	M789K	possibly damaging	Het
Pom121l2	T	C	13: 21,984,247	I896T	probably benign	Het
Ptpn4	T	C	1: 119,684,591	D24G	probably damaging	Het
Rbm28	T	C	6: 29,135,514		probably null	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rhebl1	A	T	15: 98,878,286	D162E	probably benign	Het
Runx1t1	T	C	4: 13,771,501	V15A	probably benign	Het
Serpina10	T	A	12: 103,626,743	I291F	probably benign	Het
Slc23a2	A	G	2: 132,091,259	I93T	possibly damaging	Het
Slc25a29	T	C	12: 108,826,926	E242G	probably benign	Het
Sulf1	A	C	1: 12,796,794	R67S	probably benign	Het
Syne2	A	G	12: 75,927,466	E1146G	possibly damaging	Het
Tmem45a	A	T	16: 56,823,519	L89Q	probably damaging	Het
Top3a	A	C	11: 60,745,874	V655G	possibly damaging	Het
Ttc23l	A	G	15: 10,523,592	I347T	possibly damaging	Het

Other mutations in Mrgprb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Mrgprb5	APN	7	48168384	missense	probably damaging	1.00
IGL01662:Mrgprb5	APN	7	48168424	missense	probably benign	0.02
IGL01752:Mrgprb5	APN	7	48168667	missense	probably benign	0.22
IGL02117:Mrgprb5	APN	7	48168994	utr 5 prime	probably benign
IGL02866:Mrgprb5	APN	7	48168166	missense	probably damaging	0.99
IGL03382:Mrgprb5	APN	7	48168694	missense	probably benign	0.01
R0545:Mrgprb5	UTSW	7	48168885	missense	probably benign	0.08
R1389:Mrgprb5	UTSW	7	48168330	missense	probably damaging	1.00
R1939:Mrgprb5	UTSW	7	48168938	missense	probably benign	0.00
R2367:Mrgprb5	UTSW	7	48168599	nonsense	probably null
R2912:Mrgprb5	UTSW	7	48168067	missense	probably benign
R2968:Mrgprb5	UTSW	7	48168569	missense	probably damaging	0.98
R2969:Mrgprb5	UTSW	7	48168569	missense	probably damaging	0.98
R2970:Mrgprb5	UTSW	7	48168569	missense	probably damaging	0.98
R3499:Mrgprb5	UTSW	7	48168913	missense	probably benign	0.04
R3828:Mrgprb5	UTSW	7	48168091	missense	probably benign	0.01
R4590:Mrgprb5	UTSW	7	48168061	missense	probably benign	0.16
R4719:Mrgprb5	UTSW	7	48168778	missense	probably damaging	1.00
R5263:Mrgprb5	UTSW	7	48168189	missense	probably damaging	0.99
R5264:Mrgprb5	UTSW	7	48168048	missense	probably benign	0.10
R5644:Mrgprb5	UTSW	7	48168207	missense	probably benign	0.00
R6485:Mrgprb5	UTSW	7	48168777	missense	probably damaging	0.99
R6713:Mrgprb5	UTSW	7	48168789	missense	probably damaging	0.98
R7112:Mrgprb5	UTSW	7	48168907	missense	probably benign
R7176:Mrgprb5	UTSW	7	48168311	missense	possibly damaging	0.68
R7446:Mrgprb5	UTSW	7	48168504	missense	possibly damaging	0.65
R7640:Mrgprb5	UTSW	7	48168259	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATAGAGAGCGCTCAACACTGATG -3'
(R):5'- CGGGAACACCACTGGAAACTTC -3'

Sequencing Primer
(F):5'- GCTCAACACTGATGGCTGCAATC -3'
(R):5'- GGAAACTTCCTAAACATGGGTCTAAC -3'

Posted On

2014-10-16