Incidental Mutation 'IGL01558:Agtr1b'
ID90767
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 #IGL01558
Quality Score
Status
Chromosome3
Chromosomal Location20314473-20367177 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20316260 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 61 (T61A)
Ref Sequence ENSEMBL: ENSMUSP00000128724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068316] [ENSMUST00000163776]
Predicted Effect probably damaging
Transcript: ENSMUST00000068316
AA Change: T61A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068298
Gene: ENSMUSG00000054988
AA Change: T61A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 39 310 5.4e-10 PFAM
Pfam:7tm_1 45 302 3e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163776
AA Change: T61A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128724
Gene: ENSMUSG00000054988
AA Change: T61A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 39 310 5.4e-10 PFAM
Pfam:7tm_1 45 302 1.1e-65 PFAM
Meta Mutation Damage Score 0.4668 question?
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,888,617 E359G possibly damaging Het
Casd1 T A 6: 4,624,143 I312N possibly damaging Het
Cebpz A T 17: 78,935,305 F307I probably damaging Het
Dhx33 T C 11: 70,999,753 R207G probably benign Het
G0s2 T C 1: 193,272,695 Y27C probably damaging Het
Glg1 A T 8: 111,187,730 M474K probably benign Het
Macf1 T C 4: 123,453,005 N2490S probably benign Het
Mpdz C A 4: 81,295,530 E1565* probably null Het
Mthfsl A G 9: 88,688,817 I126T possibly damaging Het
Nectin4 A G 1: 171,384,689 D285G probably benign Het
Neurod1 T C 2: 79,454,019 H340R possibly damaging Het
Nop53 G A 7: 15,945,826 probably benign Het
Siglec1 A G 2: 131,078,499 L795P probably damaging Het
Sntg1 A T 1: 8,463,388 probably benign Het
Stk33 T C 7: 109,341,284 probably benign Het
Stox1 C T 10: 62,667,872 V135M probably damaging Het
Sult2a8 C A 7: 14,425,452 E81* probably null Het
Tdrd6 A G 17: 43,625,768 V1463A probably damaging Het
Tdrd6 C T 17: 43,624,766 G1797D probably benign Het
Trmt2b C A X: 134,238,556 R389I possibly damaging Het
Ttc28 G T 5: 111,283,962 V1903L probably damaging Het
Other mutations in Agtr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02706:Agtr1b APN 3 20315863 missense probably benign 0.01
IGL02958:Agtr1b APN 3 20316094 missense possibly damaging 0.91
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 On2013-12-09