Incidental Mutation 'IGL00090:Adra1d'
ID1842
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: 0.053) question?
Stock #IGL00090
Quality Score
Status
Chromosome2
Chromosomal Location131545850-131562283 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 131561677 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 164 (D164E)
Ref Sequence ENSEMBL: ENSMUSP00000099473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103184]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103184
AA Change: D164E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099473
Gene: ENSMUSG00000027335
AA Change: D164E

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T G 10: 82,283,752 M4475L probably benign Het
Abcb5 T C 12: 118,890,610 T857A probably benign Het
Abcc9 A T 6: 142,633,190 probably benign Het
Adam11 A G 11: 102,776,831 T709A probably benign Het
Adgre1 A G 17: 57,450,055 I771V probably benign Het
Adgrv1 T G 13: 81,405,408 probably null Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Ago3 A G 4: 126,371,541 L319P probably damaging Het
Aim2 A G 1: 173,455,465 S38G probably benign Het
Apoh A G 11: 108,395,834 D28G probably benign Het
Atm C T 9: 53,524,443 R189K probably damaging Het
Bbs1 T C 19: 4,893,010 T451A probably benign Het
BC034090 T C 1: 155,225,447 D719G possibly damaging Het
Bcr T C 10: 75,157,071 probably benign Het
Bmp2 A T 2: 133,561,027 Q166L probably benign Het
Bms1 A T 6: 118,404,583 S665T probably benign Het
Ccser1 A T 6: 62,380,142 T855S possibly damaging Het
Cfap36 C T 11: 29,222,875 V217M probably benign Het
Clca3b T C 3: 144,836,632 N470D probably damaging Het
Cort A G 4: 149,125,295 F100S probably damaging Het
Cyp4f14 G T 17: 32,914,566 D105E probably benign Het
Dnah1 A G 14: 31,287,873 S1913P probably benign Het
Fam91a1 A T 15: 58,430,735 H308L probably damaging Het
Fbn1 A C 2: 125,324,947 I2016M probably damaging Het
Fibcd1 T A 2: 31,833,874 Q251L possibly damaging Het
Flg2 T A 3: 93,202,109 Y481* probably null Het
Ly9 A T 1: 171,593,451 I624N probably damaging Het
Mapt C T 11: 104,322,485 S301L probably damaging Het
Meiob G A 17: 24,823,629 V144I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo5a T A 9: 75,161,497 C660* probably null Het
Necab3 G T 2: 154,547,568 probably benign Het
Nr2c2ap A G 8: 70,132,629 Y93C probably damaging Het
Nxpe5 A G 5: 138,248,834 D356G probably benign Het
Olfr1331 T A 4: 118,869,287 Y168N probably damaging Het
Olfr225 A T 11: 59,613,321 Y119F possibly damaging Het
Plce1 A G 19: 38,745,788 Q1544R probably damaging Het
Plppr4 T A 3: 117,322,220 T605S probably benign Het
Poglut1 C A 16: 38,542,916 W167L possibly damaging Het
Pou2f1 G T 1: 165,902,298 R162S probably damaging Het
Ptprf A G 4: 118,223,220 probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Rexo2 A G 9: 48,474,447 S126P probably damaging Het
Robo4 A G 9: 37,411,104 S844G probably damaging Het
Scn7a A G 2: 66,683,327 probably benign Het
Sdc1 A G 12: 8,790,459 T75A possibly damaging Het
Slc38a4 C T 15: 97,019,809 E12K probably benign Het
Tbck T C 3: 132,743,093 probably null Het
Tex2 A T 11: 106,568,535 V23E probably damaging Het
Zfp770 A G 2: 114,195,932 V552A probably benign Het
Zfyve26 T C 12: 79,249,460 probably benign Het
Other mutations in Adra1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02198:Adra1d APN 2 131546492 missense probably damaging 0.99
IGL02901:Adra1d APN 2 131561604 missense probably damaging 1.00
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
Posted On2011-07-12