Incidental Mutation 'IGL02958:Agtr1b'
ID 365202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agtr1b
Ensembl Gene ENSMUSG00000054988
Gene Name angiotensin II receptor, type 1b
Synonyms AT1B, Angtr-1b, Agtr-1b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02958
Quality Score
Status
Chromosome 3
Chromosomal Location 20368637-20421341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20370258 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P29755
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: 45,829,098 (GRCm39) V755L probably benign Het
Abhd15 T C 11: 77,406,791 (GRCm39) V256A possibly damaging Het
Ahi1 A T 10: 20,839,698 (GRCm39) D203V probably damaging Het
Aplp2 G T 9: 31,075,972 (GRCm39) probably benign Het
Arid4a T C 12: 71,144,337 (GRCm39) S1249P probably benign Het
Asz1 T A 6: 18,073,813 (GRCm39) K298M possibly damaging Het
C4bp A G 1: 130,564,532 (GRCm39) I384T probably damaging Het
Cacna1e C A 1: 154,341,487 (GRCm39) A1236S probably damaging Het
Cdh13 T C 8: 120,039,460 (GRCm39) I634T possibly damaging Het
Cemip A T 7: 83,624,263 (GRCm39) F524L probably damaging Het
Dnah7c G A 1: 46,696,271 (GRCm39) R2051H probably damaging Het
Dnajc17 T C 2: 119,016,243 (GRCm39) K77E probably benign Het
Efhc2 C T X: 17,027,485 (GRCm39) probably benign Het
Ergic2 A T 6: 148,083,441 (GRCm39) *50K probably null Het
Fam83g C T 11: 61,598,548 (GRCm39) P812S probably damaging Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Itih3 T C 14: 30,635,139 (GRCm39) T73A probably benign Het
Kcnj1 A G 9: 32,307,851 (GRCm39) S72G probably damaging Het
Kcnn4 T C 7: 24,074,170 (GRCm39) V78A probably benign Het
Lrp1b T A 2: 41,192,928 (GRCm39) D1353V probably damaging Het
Lrrc2 T A 9: 110,791,741 (GRCm39) probably null Het
Mplkipl1 G T 19: 61,164,118 (GRCm39) Q106K possibly damaging Het
Ndufs8 T C 19: 3,961,232 (GRCm39) E45G probably benign Het
Nell1 G A 7: 49,870,085 (GRCm39) probably null Het
Nxt1 A G 2: 148,517,692 (GRCm39) probably benign Het
Or2y17 A G 11: 49,232,127 (GRCm39) Y256C probably benign Het
Or5al5 T A 2: 85,961,351 (GRCm39) I219F probably benign Het
Pdzd8 A T 19: 59,288,804 (GRCm39) C865* probably null Het
Pop1 G T 15: 34,530,509 (GRCm39) C969F probably damaging Het
Rc3h2 A C 2: 37,304,712 (GRCm39) I16S probably damaging Het
Shank1 T C 7: 44,003,897 (GRCm39) V1863A possibly damaging Het
Slc15a4 A T 5: 127,681,729 (GRCm39) L296Q possibly damaging Het
Spmip1 G A 6: 29,471,625 (GRCm39) G34R probably damaging Het
Ssr4 T C X: 72,830,856 (GRCm39) probably benign Het
Supt20 T A 3: 54,621,144 (GRCm39) probably benign Het
Ttc8 A T 12: 98,930,803 (GRCm39) K282N probably benign Het
Usp40 A T 1: 87,906,207 (GRCm39) V676E probably damaging Het
Vmn1r43 T C 6: 89,847,031 (GRCm39) I152V probably benign Het
Vmn2r61 A T 7: 41,949,361 (GRCm39) I594F probably benign Het
Vps53 A C 11: 76,008,537 (GRCm39) I261S probably damaging Het
Wdr19 T A 5: 65,370,150 (GRCm39) probably null Het
Zc3hav1 T A 6: 38,309,919 (GRCm39) D301V probably damaging Het
Other mutations in Agtr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01558:Agtr1b APN 3 20,370,424 (GRCm39) missense probably damaging 0.99
IGL02706:Agtr1b APN 3 20,370,027 (GRCm39) missense probably benign 0.01
IGL03243:Agtr1b APN 3 20,369,959 (GRCm39) missense probably benign 0.13
R0125:Agtr1b UTSW 3 20,369,704 (GRCm39) missense probably benign 0.00
R0565:Agtr1b UTSW 3 20,369,838 (GRCm39) missense probably damaging 0.99
R0661:Agtr1b UTSW 3 20,370,163 (GRCm39) missense possibly damaging 0.83
R1070:Agtr1b UTSW 3 20,369,912 (GRCm39) missense probably benign 0.34
R1469:Agtr1b UTSW 3 20,369,664 (GRCm39) missense probably damaging 1.00
R1469:Agtr1b UTSW 3 20,369,664 (GRCm39) missense probably damaging 1.00
R1713:Agtr1b UTSW 3 20,370,473 (GRCm39) missense probably benign 0.00
R4502:Agtr1b UTSW 3 20,369,962 (GRCm39) missense probably damaging 1.00
R5613:Agtr1b UTSW 3 20,370,424 (GRCm39) missense probably damaging 0.99
R6142:Agtr1b UTSW 3 20,370,558 (GRCm39) missense probably benign 0.06
R6320:Agtr1b UTSW 3 20,369,943 (GRCm39) missense probably benign 0.22
R6667:Agtr1b UTSW 3 20,369,913 (GRCm39) missense possibly damaging 0.91
R6987:Agtr1b UTSW 3 20,370,585 (GRCm39) missense probably benign 0.00
R7407:Agtr1b UTSW 3 20,369,895 (GRCm39) missense possibly damaging 0.79
R7598:Agtr1b UTSW 3 20,370,077 (GRCm39) missense possibly damaging 0.91
R8701:Agtr1b UTSW 3 20,370,256 (GRCm39) missense probably damaging 0.99
R8791:Agtr1b UTSW 3 20,370,280 (GRCm39) missense probably damaging 1.00
R9005:Agtr1b UTSW 3 20,370,343 (GRCm39) missense possibly damaging 0.66
X0037:Agtr1b UTSW 3 20,370,552 (GRCm39) missense probably damaging 1.00
X0060:Agtr1b UTSW 3 20,370,552 (GRCm39) missense probably damaging 1.00
X0063:Agtr1b UTSW 3 20,370,552 (GRCm39) missense probably damaging 1.00
X0063:Agtr1b UTSW 3 20,369,670 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18