Incidental Mutation 'IGL02706:Agtr1b'
ID304331
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 #IGL02706
Quality Score
Status
Chromosome3
Chromosomal Location20314473-20367177 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 20315863 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 193 (I193N)
Ref Sequence ENSEMBL: ENSMUSP00000128724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068316] [ENSMUST00000163776]
Predicted Effect probably benign
Transcript: ENSMUST00000068316
AA Change: I193N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000068298
Gene: ENSMUSG00000054988
AA Change: I193N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 39 310 5.4e-10 PFAM
Pfam:7tm_1 45 302 3e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163776
AA Change: I193N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128724
Gene: ENSMUSG00000054988
AA Change: I193N

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,298,992 E781G probably benign Het
Abcc8 C T 7: 46,166,921 R265Q probably benign Het
Atp6v1e2 A G 17: 86,944,934 I12T probably damaging Het
Cacna1g T C 11: 94,456,992 T757A probably damaging Het
Cldn15 A G 5: 136,974,831 K200R probably benign Het
Dip2b G T 15: 100,215,311 V1302F probably damaging Het
Dnajb6 T A 5: 29,752,423 Y68N probably damaging Het
Dok1 T A 6: 83,032,334 E179V probably damaging Het
Epha4 T C 1: 77,426,845 T342A probably damaging Het
Etf1 A T 18: 34,931,637 S6R possibly damaging Het
Fryl T C 5: 73,093,163 I987V probably benign Het
Gba2 C T 4: 43,567,257 G897S probably benign Het
Habp2 G T 19: 56,310,138 probably null Het
Hapln1 G T 13: 89,605,459 S248I possibly damaging Het
Hydin A G 8: 110,410,566 D667G probably damaging Het
Kcnma1 T A 14: 23,309,154 H1074L probably damaging Het
Kctd9 T C 14: 67,724,681 probably null Het
L3mbtl4 A G 17: 68,486,919 D306G probably damaging Het
Lgalsl T C 11: 20,830,090 R49G probably damaging Het
Lpo C T 11: 87,817,773 S133N probably benign Het
Lrp8 A T 4: 107,803,319 R59* probably null Het
Mctp1 T C 13: 76,823,069 F629S probably damaging Het
Med1 A G 11: 98,156,707 probably benign Het
Nbea T C 3: 56,037,278 H555R probably damaging Het
Nedd1 T C 10: 92,686,285 H630R possibly damaging Het
Nr3c2 A T 8: 76,908,416 probably null Het
Nubp2 A T 17: 24,883,197 V267E probably benign Het
Oacyl A T 18: 65,749,721 Y629F probably damaging Het
Olfr1475 A T 19: 13,480,098 Y33* probably null Het
Olfr353 A G 2: 36,890,719 I43T probably damaging Het
Olfr54 T A 11: 51,027,264 H87Q probably damaging Het
Pknox2 T C 9: 36,936,379 H114R probably benign Het
Ppp2r1b A G 9: 50,878,834 D564G possibly damaging Het
Ppp3ca T G 3: 136,905,318 N367K possibly damaging Het
Ptprn2 T C 12: 116,888,898 V525A probably damaging Het
Reps1 T G 10: 18,123,015 probably benign Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sipa1l1 A G 12: 82,397,433 I973V possibly damaging Het
Ssh2 T A 11: 77,453,406 V739D possibly damaging Het
Tbc1d24 A G 17: 24,185,421 F250L probably benign Het
Ube3a T A 7: 59,272,133 H84Q possibly damaging Het
Usp34 T C 11: 23,388,659 probably benign Het
Zdhhc8 G T 16: 18,224,894 L481I probably damaging Het
Zfp574 A G 7: 25,081,365 H604R probably damaging Het
Zfp945 A T 17: 22,857,282 M63K probably damaging Het
Other mutations in Agtr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01558:Agtr1b APN 3 20316260 missense probably damaging 0.99
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
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 On2015-04-16