Incidental Mutation 'IGL02958:Agtr1b'
ID365202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agtr1b
Ensembl Gene ENSMUSG00000054988
Gene Nameangiotensin II receptor, type 1b
SynonymsAgtr-1b, Angtr-1b, AT1B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02958
Quality Score
Status
Chromosome3
Chromosomal Location20314473-20367177 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 20316094 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 116 (V116E)
Ref Sequence ENSEMBL: ENSMUSP00000128724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068316] [ENSMUST00000163776]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068316
AA Change: V116E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068298
Gene: ENSMUSG00000054988
AA Change: V116E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 39 310 5.4e-10 PFAM
Pfam:7tm_1 45 302 3e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163776
AA Change: V116E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128724
Gene: ENSMUSG00000054988
AA Change: V116E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 39 310 5.4e-10 PFAM
Pfam:7tm_1 45 302 1.1e-65 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations are phenotypically normal, but homozygotes for the Agtr1b/Agtr1a double knockout exhibit reductions in growth, survival, blood pressure, and kidney size not found in either single knockout. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G T 17: 45,518,172 V755L probably benign Het
Abhd15 T C 11: 77,515,965 V256A possibly damaging Het
Ahi1 A T 10: 20,963,799 D203V probably damaging Het
Aplp2 G T 9: 31,164,676 probably benign Het
Arid4a T C 12: 71,097,563 S1249P probably benign Het
Asz1 T A 6: 18,073,814 K298M possibly damaging Het
C4bp A G 1: 130,636,795 I384T probably damaging Het
Cacna1e C A 1: 154,465,741 A1236S probably damaging Het
Cdh13 T C 8: 119,312,721 I634T possibly damaging Het
Cemip A T 7: 83,975,055 F524L probably damaging Het
Dnah7c G A 1: 46,657,111 R2051H probably damaging Het
Dnajc17 T C 2: 119,185,762 K77E probably benign Het
Efhc2 C T X: 17,161,246 probably benign Het
Ergic2 A T 6: 148,181,943 *50K probably null Het
Fam83g C T 11: 61,707,722 P812S probably damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gm7102 G T 19: 61,175,680 Q106K possibly damaging Het
Gm9047 G A 6: 29,471,626 G34R probably damaging Het
Itih3 T C 14: 30,913,182 T73A probably benign Het
Kcnj1 A G 9: 32,396,555 S72G probably damaging Het
Kcnn4 T C 7: 24,374,745 V78A probably benign Het
Lrp1b T A 2: 41,302,916 D1353V probably damaging Het
Lrrc2 T A 9: 110,962,673 probably null Het
Ndufs8 T C 19: 3,911,232 E45G probably benign Het
Nell1 G A 7: 50,220,337 probably null Het
Nxt1 A G 2: 148,675,772 probably benign Het
Olfr1039 T A 2: 86,131,007 I219F probably benign Het
Olfr1390 A G 11: 49,341,300 Y256C probably benign Het
Pdzd8 A T 19: 59,300,372 C865* probably null Het
Pop1 G T 15: 34,530,363 C969F probably damaging Het
Rc3h2 A C 2: 37,414,700 I16S probably damaging Het
Shank1 T C 7: 44,354,473 V1863A possibly damaging Het
Slc15a4 A T 5: 127,604,665 L296Q possibly damaging Het
Ssr4 T C X: 73,787,250 probably benign Het
Supt20 T A 3: 54,713,723 probably benign Het
Ttc8 A T 12: 98,964,544 K282N probably benign Het
Usp40 A T 1: 87,978,485 V676E probably damaging Het
Vmn1r43 T C 6: 89,870,049 I152V probably benign Het
Vmn2r61 A T 7: 42,299,937 I594F probably benign Het
Vps53 A C 11: 76,117,711 I261S probably damaging Het
Wdr19 T A 5: 65,212,807 probably null Het
Zc3hav1 T A 6: 38,332,984 D301V probably damaging Het
Other mutations in Agtr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01558:Agtr1b APN 3 20316260 missense probably damaging 0.99
IGL02706:Agtr1b APN 3 20315863 missense probably benign 0.01
IGL03243:Agtr1b APN 3 20315795 missense probably benign 0.13
R0125:Agtr1b UTSW 3 20315540 missense probably benign 0.00
R0565:Agtr1b UTSW 3 20315674 missense probably damaging 0.99
R0661:Agtr1b UTSW 3 20315999 missense possibly damaging 0.83
R1070:Agtr1b UTSW 3 20315748 missense probably benign 0.34
R1469:Agtr1b UTSW 3 20315500 missense probably damaging 1.00
R1469:Agtr1b UTSW 3 20315500 missense probably damaging 1.00
R1713:Agtr1b UTSW 3 20316309 missense probably benign 0.00
R4502:Agtr1b UTSW 3 20315798 missense probably damaging 1.00
R5613:Agtr1b UTSW 3 20316260 missense probably damaging 0.99
R6142:Agtr1b UTSW 3 20316394 missense probably benign 0.06
R6320:Agtr1b UTSW 3 20315779 missense probably benign 0.22
R6667:Agtr1b UTSW 3 20315749 missense possibly damaging 0.91
R6987:Agtr1b UTSW 3 20316421 missense probably benign 0.00
R7407:Agtr1b UTSW 3 20315731 missense possibly damaging 0.79
R7598:Agtr1b UTSW 3 20315913 missense possibly damaging 0.91
X0037:Agtr1b UTSW 3 20316388 missense probably damaging 1.00
X0060:Agtr1b UTSW 3 20316388 missense probably damaging 1.00
X0063:Agtr1b UTSW 3 20316388 missense probably damaging 1.00
X0063:Agtr1b UTSW 3 20315506 missense probably damaging 1.00
Posted On2015-12-18