Incidental Mutation 'R2277:Mrgprb5'
ID242854
Institutional Source Beutler Lab
Gene Symbol Mrgprb5
Ensembl Gene ENSMUSG00000070551
Gene NameMAS-related GPR, member B5
SynonymsMrgB5
MMRRC Submission 040276-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R2277 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location48167983-48169019 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48168831 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2014-10-16