Incidental Mutation 'IGL02901:Adra1d'
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ID363606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adra1d
Ensembl Gene ENSMUSG00000027335
Gene Nameadrenergic receptor, alpha 1d
SynonymsAdra1, Gpcr8, alpha1D-AR, Adra1a, Adra-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02901
Quality Score
Status
Chromosome2
Chromosomal Location131545850-131562283 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 131561604 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 189 (Y189N)
Ref Sequence ENSEMBL: ENSMUSP00000099473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103184]
Predicted Effect probably damaging
Transcript: ENSMUST00000103184
AA Change: Y189N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099473
Gene: ENSMUSG00000027335
AA Change: Y189N

DomainStartEndE-ValueType
low complexity region 13 57 N/A INTRINSIC
low complexity region 65 83 N/A INTRINSIC
Pfam:7TM_GPCR_Srx 98 228 7.4e-7 PFAM
Pfam:7TM_GPCR_Srsx 101 411 8.9e-14 PFAM
Pfam:7tm_1 107 396 4.5e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146049
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-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display hypotension or reduced rearing behavior in a novel environment, decreased wheel-running activity during the night, and reduced hyperlocomotion after amphetamine administration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 A G 4: 133,064,934 D1162G possibly damaging Het
Alpk2 A G 18: 65,306,411 M637T probably benign Het
Arvcf G A 16: 18,398,242 A440T probably damaging Het
BC051665 A T 13: 60,784,718 V51E probably damaging Het
Clca3a2 A T 3: 144,816,768 V164E probably damaging Het
Cox6a2 A C 7: 128,206,282 L5R probably damaging Het
Cpsf1 A T 15: 76,599,496 L849* probably null Het
Dclk1 A G 3: 55,487,787 probably benign Het
Fam120b T A 17: 15,407,702 probably benign Het
Iqub A G 6: 24,454,195 L563P probably damaging Het
Itgb3 A T 11: 104,637,946 I300F probably benign Het
Mdga2 A G 12: 66,797,809 probably benign Het
Mfsd6 A G 1: 52,708,473 I411T probably benign Het
Misp A T 10: 79,826,937 Y396F possibly damaging Het
Nhsl2 T A X: 102,079,243 V884D probably benign Het
Nxf7 A T X: 135,587,235 probably null Het
Olfr120 T A 17: 37,726,420 I132K probably damaging Het
Olfr1271 G A 2: 90,265,708 H241Y probably damaging Het
Palld T A 8: 61,876,995 K283* probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Proc T G 18: 32,123,625 T330P possibly damaging Het
Prpf38a T C 4: 108,568,418 D221G probably damaging Het
Prss55 T A 14: 64,077,127 N198I probably damaging Het
Rabggta A G 14: 55,721,681 S10P probably benign Het
Sbk2 A G 7: 4,957,290 Y294H possibly damaging Het
Smyd1 A G 6: 71,238,630 V115A probably benign Het
Trpm7 A G 2: 126,807,287 probably null Het
Ttc21a A G 9: 119,958,281 N751S probably damaging Het
Upk1a A T 7: 30,603,779 M241K possibly damaging Het
Vmn2r71 A C 7: 85,619,262 E224D probably benign Het
Vmn2r81 C T 10: 79,270,730 T514I probably damaging Het
Zkscan16 T C 4: 58,946,283 W53R probably damaging Het
Other mutations in Adra1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Adra1d APN 2 131561677 missense possibly damaging 0.83
IGL02198:Adra1d APN 2 131546492 missense probably damaging 0.99
IGL03155:Adra1d APN 2 131546081 missense probably benign 0.00
R0238:Adra1d UTSW 2 131546214 missense probably benign 0.01
R0239:Adra1d UTSW 2 131546214 missense probably benign 0.01
R0239:Adra1d UTSW 2 131546214 missense probably benign 0.01
R1568:Adra1d UTSW 2 131546172 missense possibly damaging 0.88
R1806:Adra1d UTSW 2 131546149 missense probably benign 0.31
R2192:Adra1d UTSW 2 131561369 missense probably damaging 1.00
R2510:Adra1d UTSW 2 131562135 nonsense probably null
R3913:Adra1d UTSW 2 131562155 missense probably damaging 0.98
R4660:Adra1d UTSW 2 131561142 missense probably damaging 1.00
R5303:Adra1d UTSW 2 131546249 missense possibly damaging 0.87
R5355:Adra1d UTSW 2 131561087 missense probably damaging 1.00
R5428:Adra1d UTSW 2 131561403 missense probably damaging 1.00
R6277:Adra1d UTSW 2 131561163 missense probably damaging 1.00
R6392:Adra1d UTSW 2 131561609 missense probably damaging 1.00
R7200:Adra1d UTSW 2 131561250 missense probably benign 0.00
R7779:Adra1d UTSW 2 131561885 missense probably damaging 0.99
R8070:Adra1d UTSW 2 131561582 missense probably damaging 1.00
Posted On2015-12-18