Incidental Mutation 'IGL00090:Adra1d'
ID 1842
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adra1d
Ensembl Gene ENSMUSG00000027335
Gene Name adrenergic receptor, alpha 1d
Synonyms Gpcr8, Adra1, Adra-1, Adra1a, alpha1D-AR
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL00090
Quality Score
Status
Chromosome 2
Chromosomal Location 131387770-131404203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 131403597 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Adra1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02198:Adra1d APN 2 131,388,412 (GRCm39) missense probably damaging 0.99
IGL02901:Adra1d APN 2 131,403,524 (GRCm39) missense probably damaging 1.00
IGL03155:Adra1d APN 2 131,388,001 (GRCm39) missense probably benign 0.00
BB006:Adra1d UTSW 2 131,403,600 (GRCm39) nonsense probably null
BB016:Adra1d UTSW 2 131,403,600 (GRCm39) nonsense probably null
R0238:Adra1d UTSW 2 131,388,134 (GRCm39) missense probably benign 0.01
R0239:Adra1d UTSW 2 131,388,134 (GRCm39) missense probably benign 0.01
R0239:Adra1d UTSW 2 131,388,134 (GRCm39) missense probably benign 0.01
R1568:Adra1d UTSW 2 131,388,092 (GRCm39) missense possibly damaging 0.88
R1806:Adra1d UTSW 2 131,388,069 (GRCm39) missense probably benign 0.31
R2192:Adra1d UTSW 2 131,403,289 (GRCm39) missense probably damaging 1.00
R2510:Adra1d UTSW 2 131,404,055 (GRCm39) nonsense probably null
R3913:Adra1d UTSW 2 131,404,075 (GRCm39) missense probably damaging 0.98
R4660:Adra1d UTSW 2 131,403,062 (GRCm39) missense probably damaging 1.00
R5303:Adra1d UTSW 2 131,388,169 (GRCm39) missense possibly damaging 0.87
R5355:Adra1d UTSW 2 131,403,007 (GRCm39) missense probably damaging 1.00
R5428:Adra1d UTSW 2 131,403,323 (GRCm39) missense probably damaging 1.00
R6277:Adra1d UTSW 2 131,403,083 (GRCm39) missense probably damaging 1.00
R6392:Adra1d UTSW 2 131,403,529 (GRCm39) missense probably damaging 1.00
R7200:Adra1d UTSW 2 131,403,170 (GRCm39) missense probably benign 0.00
R7779:Adra1d UTSW 2 131,403,805 (GRCm39) missense probably damaging 0.99
R7929:Adra1d UTSW 2 131,403,600 (GRCm39) nonsense probably null
R8070:Adra1d UTSW 2 131,403,502 (GRCm39) missense probably damaging 1.00
R8135:Adra1d UTSW 2 131,403,692 (GRCm39) missense probably damaging 1.00
R8708:Adra1d UTSW 2 131,403,400 (GRCm39) missense probably damaging 1.00
R8808:Adra1d UTSW 2 131,403,397 (GRCm39) missense probably damaging 1.00
R9290:Adra1d UTSW 2 131,403,898 (GRCm39) missense probably benign 0.09
Posted On 2011-07-12