Incidental Mutation 'IGL01775:Adra1b'
ID 154083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adra1b
Ensembl Gene ENSMUSG00000050541
Gene Name adrenergic receptor, alpha 1b
Synonyms alpha1B-adrenergic receptor
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01775
Quality Score
Status
Chromosome 11
Chromosomal Location 43665433-43792037 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43726128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 263 (D263V)
Ref Sequence ENSEMBL: ENSMUSP00000129200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067258] [ENSMUST00000139906] [ENSMUST00000167574]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000067258
AA Change: D263V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070200
Gene: ENSMUSG00000050541
AA Change: D263V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 54 182 1.3e-6 PFAM
Pfam:7TM_GPCR_Srsx 56 363 3.7e-17 PFAM
Pfam:7tm_1 62 348 7.9e-84 PFAM
low complexity region 368 381 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124306
Predicted Effect probably benign
Transcript: ENSMUST00000139906
AA Change: D263V

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123435
Gene: ENSMUSG00000050541
AA Change: D263V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 54 183 4.4e-7 PFAM
Pfam:7TM_GPCR_Srsx 56 363 1.8e-17 PFAM
Pfam:7tm_1 62 348 2.7e-84 PFAM
low complexity region 368 381 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167574
AA Change: D263V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129200
Gene: ENSMUSG00000050541
AA Change: D263V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 54 182 8.5e-7 PFAM
Pfam:7TM_GPCR_Srsx 56 363 3.7e-17 PFAM
Pfam:7tm_1 62 348 1.2e-79 PFAM
low complexity region 368 381 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted mutations that inactivate the gene affect atrial contractility and left ventricle function, suggesting their use in modeling chronic heart failure in humans. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A T 11: 84,361,963 (GRCm39) L333Q probably damaging Het
Ablim3 A T 18: 61,949,989 (GRCm39) probably benign Het
Acsl6 T C 11: 54,236,826 (GRCm39) probably benign Het
Aicda G A 6: 122,538,012 (GRCm39) V57M probably damaging Het
C2cd3 T C 7: 100,092,638 (GRCm39) W494R probably damaging Het
Ccnb1 T C 13: 100,920,017 (GRCm39) S165G probably benign Het
Cnot4 A T 6: 35,046,411 (GRCm39) probably benign Het
Dph6 A T 2: 114,348,776 (GRCm39) probably benign Het
Emc3 A G 6: 113,508,296 (GRCm39) S50P possibly damaging Het
Fbxo45 A C 16: 32,052,093 (GRCm39) probably null Het
Gm14496 A T 2: 181,642,125 (GRCm39) T599S probably benign Het
Gspt1 T C 16: 11,041,159 (GRCm39) I535V possibly damaging Het
Hemk1 A G 9: 107,207,995 (GRCm39) I215T possibly damaging Het
Ighm A T 12: 113,386,087 (GRCm39) C88S unknown Het
Itih2 A C 2: 10,134,097 (GRCm39) D38E probably benign Het
Lat C A 7: 125,967,261 (GRCm39) V113L probably benign Het
Mical2 T A 7: 111,981,269 (GRCm39) F480L possibly damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Msh2 A T 17: 87,990,074 (GRCm39) N254I possibly damaging Het
Naglu T C 11: 100,964,921 (GRCm39) M336T probably damaging Het
Nhsl1 C T 10: 18,400,222 (GRCm39) R483C probably damaging Het
Nsmaf C T 4: 6,396,791 (GRCm39) E899K possibly damaging Het
Nup85 T C 11: 115,471,593 (GRCm39) Y181H probably damaging Het
Or52n2 A T 7: 104,542,499 (GRCm39) M112K possibly damaging Het
Or5m5 T C 2: 85,815,014 (GRCm39) S277P probably damaging Het
Or7g35 A T 9: 19,496,001 (GRCm39) Q56L probably benign Het
Or8g23 C A 9: 38,971,763 (GRCm39) L66F probably damaging Het
P2rx3 C T 2: 84,854,501 (GRCm39) R91H probably benign Het
Plag1 T C 4: 3,904,513 (GRCm39) D226G probably damaging Het
Pofut1 T A 2: 153,090,393 (GRCm39) F96I probably damaging Het
Prim1 A G 10: 127,865,112 (GRCm39) N399S probably benign Het
Prkd3 G T 17: 79,320,189 (GRCm39) T51K probably damaging Het
Ptprc T C 1: 137,992,497 (GRCm39) Y1210C probably damaging Het
Rbm43 A T 2: 51,815,460 (GRCm39) S254T probably damaging Het
Retsat G A 6: 72,584,300 (GRCm39) R528Q probably damaging Het
Rlig1 A T 10: 100,419,799 (GRCm39) L94Q probably benign Het
Rps8 C A 4: 117,012,249 (GRCm39) R56L probably benign Het
Samhd1 A T 2: 156,956,250 (GRCm39) probably benign Het
Sfxn1 T C 13: 54,259,758 (GRCm39) probably benign Het
Stk33 T A 7: 108,911,574 (GRCm39) E396D possibly damaging Het
Tcaim T C 9: 122,647,890 (GRCm39) V135A probably damaging Het
Thsd7b A G 1: 129,556,676 (GRCm39) D421G probably damaging Het
Unc80 A G 1: 66,640,215 (GRCm39) D1374G possibly damaging Het
Wnk2 C A 13: 49,224,586 (GRCm39) D232Y probably damaging Het
Zfand1 T C 3: 10,409,926 (GRCm39) T145A probably damaging Het
Other mutations in Adra1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1827:Adra1b UTSW 11 43,726,476 (GRCm39) missense probably damaging 1.00
R2073:Adra1b UTSW 11 43,726,698 (GRCm39) missense probably damaging 1.00
R4982:Adra1b UTSW 11 43,726,057 (GRCm39) missense probably damaging 1.00
R6418:Adra1b UTSW 11 43,667,028 (GRCm39) missense probably benign 0.17
R6763:Adra1b UTSW 11 43,666,833 (GRCm39) missense possibly damaging 0.88
R6787:Adra1b UTSW 11 43,726,242 (GRCm39) missense probably damaging 1.00
R7236:Adra1b UTSW 11 43,667,151 (GRCm39) missense possibly damaging 0.67
R7402:Adra1b UTSW 11 43,666,845 (GRCm39) missense possibly damaging 0.95
R7491:Adra1b UTSW 11 43,726,794 (GRCm39) missense probably benign 0.13
R7819:Adra1b UTSW 11 43,726,194 (GRCm39) missense probably damaging 1.00
R8289:Adra1b UTSW 11 43,726,315 (GRCm39) missense probably damaging 1.00
R8857:Adra1b UTSW 11 43,727,092 (GRCm39) start gained probably benign
R9098:Adra1b UTSW 11 43,667,218 (GRCm39) missense probably damaging 1.00
R9102:Adra1b UTSW 11 43,667,056 (GRCm39) missense possibly damaging 0.61
R9194:Adra1b UTSW 11 43,726,263 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04