Incidental Mutation 'IGL00540:Mrgprb1'
ID5243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrgprb1
Ensembl Gene ENSMUSG00000070547
Gene NameMAS-related GPR, member B1
SynonymsMrgB1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL00540
Quality Score
Status
Chromosome7
Chromosomal Location48444113-48456342 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 48447543 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 207 (V207E)
Ref Sequence ENSEMBL: ENSMUSP00000091946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094384] [ENSMUST00000188095] [ENSMUST00000188918]
Predicted Effect probably damaging
Transcript: ENSMUST00000094384
AA Change: V207E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: V207E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1l9ha_ 23 84 3e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A G 1: 26,684,977 I374T probably benign Het
Amph G T 13: 19,120,606 G398V probably damaging Het
C2cd3 T G 7: 100,391,128 S301R probably benign Het
Calr G A 8: 84,844,744 P178S possibly damaging Het
Cbll1 G T 12: 31,487,941 P271T probably damaging Het
Ccl7 A T 11: 82,047,062 D89V probably damaging Het
Cd82 T A 2: 93,420,659 I179F probably null Het
Cdh10 A T 15: 18,963,995 D81V probably damaging Het
Cenpo A G 12: 4,216,685 V141A probably benign Het
Dnah11 A G 12: 118,186,922 V367A probably benign Het
Fam161b T C 12: 84,361,751 probably benign Het
Gemin5 G A 11: 58,160,818 P268S probably damaging Het
Gm5965 T A 16: 88,778,340 C134S probably damaging Het
Icam4 C A 9: 21,030,086 R174S possibly damaging Het
Kdm5a T A 6: 120,385,719 probably null Het
Klhl10 A G 11: 100,445,418 K77R probably benign Het
Myh10 A G 11: 68,790,708 N1067S probably benign Het
Myo1b T C 1: 51,763,954 E856G possibly damaging Het
Nbea T C 3: 55,628,493 Y2890C probably damaging Het
Pcdhb16 T C 18: 37,479,798 S604P probably damaging Het
Pelp1 A T 11: 70,394,812 D743E possibly damaging Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Rab25 A G 3: 88,545,239 S21P probably damaging Het
Sspo G A 6: 48,498,213 probably benign Het
Ssr1 T C 13: 37,983,431 D252G probably damaging Het
Stx1b T C 7: 127,810,698 E19G probably damaging Het
Tbc1d23 T A 16: 57,171,776 E607V probably damaging Het
Tchhl1 A G 3: 93,470,923 I311M probably benign Het
Trpm6 C T 19: 18,783,908 probably benign Het
Other mutations in Mrgprb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Mrgprb1 APN 7 48448027 missense probably benign 0.36
IGL01393:Mrgprb1 APN 7 48448006 missense possibly damaging 0.48
IGL02430:Mrgprb1 APN 7 48447661 missense possibly damaging 0.95
IGL02485:Mrgprb1 APN 7 48447717 missense possibly damaging 0.88
R0026:Mrgprb1 UTSW 7 48447204 missense possibly damaging 0.66
R0051:Mrgprb1 UTSW 7 48447214 missense probably benign 0.01
R0789:Mrgprb1 UTSW 7 48456184 splice site probably benign
R1223:Mrgprb1 UTSW 7 48447687 missense possibly damaging 0.61
R1327:Mrgprb1 UTSW 7 48447429 missense possibly damaging 0.87
R1456:Mrgprb1 UTSW 7 48448029 missense probably damaging 0.98
R1561:Mrgprb1 UTSW 7 48447125 splice site probably null
R1567:Mrgprb1 UTSW 7 48447453 missense probably damaging 0.97
R2030:Mrgprb1 UTSW 7 48447328 missense possibly damaging 0.83
R2165:Mrgprb1 UTSW 7 48447322 missense probably benign 0.00
R2885:Mrgprb1 UTSW 7 48447721 missense probably damaging 1.00
R3108:Mrgprb1 UTSW 7 48447328 missense possibly damaging 0.93
R3919:Mrgprb1 UTSW 7 48448081 missense probably benign 0.03
R4021:Mrgprb1 UTSW 7 48447123 missense possibly damaging 0.95
R4613:Mrgprb1 UTSW 7 48447708 missense possibly damaging 0.91
R4809:Mrgprb1 UTSW 7 48447991 missense possibly damaging 0.89
R5249:Mrgprb1 UTSW 7 48447477 missense possibly damaging 0.91
R5425:Mrgprb1 UTSW 7 48447971 missense possibly damaging 0.81
R5555:Mrgprb1 UTSW 7 48447775 missense probably benign 0.06
R5595:Mrgprb1 UTSW 7 48447684 missense probably damaging 0.99
R5982:Mrgprb1 UTSW 7 48447820 missense probably benign 0.01
R6746:Mrgprb1 UTSW 7 48447897 missense possibly damaging 0.82
R7066:Mrgprb1 UTSW 7 48447676 missense probably benign 0.27
R7141:Mrgprb1 UTSW 7 48447687 missense possibly damaging 0.61
R7633:Mrgprb1 UTSW 7 48447583 missense probably benign 0.01
R8072:Mrgprb1 UTSW 7 48448147 nonsense probably null
R8080:Mrgprb1 UTSW 7 48446910 splice site probably null
R8112:Mrgprb1 UTSW 7 48447934 missense probably damaging 0.97
R8493:Mrgprb1 UTSW 7 48447573 missense probably damaging 0.99
Posted On2012-04-20