Incidental Mutation 'R1568:Adra1d'
ID 175398
Institutional Source Beutler Lab
Gene Symbol Adra1d
Ensembl Gene ENSMUSG00000027335
Gene Name adrenergic receptor, alpha 1d
Synonyms Gpcr8, Adra1, Adra-1, Adra1a, alpha1D-AR
MMRRC Submission 039607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1568 (G1)
Quality Score 124
Status Not validated
Chromosome 2
Chromosomal Location 131387770-131404203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131388092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 488 (R488G)
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: R488G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099473
Gene: ENSMUSG00000027335
AA Change: R488G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.9%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T G 8: 25,137,799 (GRCm39) probably null Het
Adgb A T 10: 10,318,409 (GRCm39) Y138* probably null Het
Ahnak G A 19: 8,979,739 (GRCm39) G341E probably damaging Het
Ankmy1 T C 1: 92,808,838 (GRCm39) D690G probably damaging Het
Arhgef38 C T 3: 132,838,225 (GRCm39) E21K probably damaging Het
Atp8b2 T C 3: 89,857,155 (GRCm39) M402V probably damaging Het
Atp8b4 G T 2: 126,167,314 (GRCm39) H1062N probably benign Het
Bdnf A G 2: 109,554,139 (GRCm39) H131R probably damaging Het
Cblb C T 16: 51,956,192 (GRCm39) T265M probably damaging Het
Cenpe T A 3: 134,945,519 (GRCm39) M1011K probably benign Het
Clca3a2 A T 3: 144,781,410 (GRCm39) Y711* probably null Het
Clca4a A G 3: 144,658,690 (GRCm39) Y842H probably benign Het
Clspn T A 4: 126,475,310 (GRCm39) M1021K probably benign Het
Cpne8 G T 15: 90,503,845 (GRCm39) R107S probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah5 T A 15: 28,409,323 (GRCm39) N3580K probably damaging Het
Dsp T C 13: 38,359,123 (GRCm39) I298T probably damaging Het
Dync2h1 T C 9: 7,157,553 (GRCm39) K858R probably null Het
Fasn A T 11: 120,704,075 (GRCm39) V1448E possibly damaging Het
Ghdc A G 11: 100,659,331 (GRCm39) I322T probably benign Het
Gins2 T C 8: 121,308,939 (GRCm39) D105G probably damaging Het
Insr A T 8: 3,215,576 (GRCm39) D975E probably benign Het
Klrc3 T C 6: 129,616,510 (GRCm39) D169G probably benign Het
Krt76 T A 15: 101,793,443 (GRCm39) S532C unknown Het
Lamp3 A T 16: 19,492,275 (GRCm39) M323K probably damaging Het
Lgmn T C 12: 102,360,868 (GRCm39) I423M possibly damaging Het
Lpgat1 A T 1: 191,508,538 (GRCm39) T359S possibly damaging Het
Lrguk T A 6: 34,063,373 (GRCm39) I466N probably damaging Het
Magi3 A C 3: 103,996,843 (GRCm39) M234R probably benign Het
Myh14 G A 7: 44,261,122 (GRCm39) R1042* probably null Het
Nfia T G 4: 97,999,461 (GRCm39) Y378D possibly damaging Het
Npffr1 T A 10: 61,462,012 (GRCm39) S383T possibly damaging Het
Or4f57 C A 2: 111,790,585 (GRCm39) V278F probably benign Het
Or52n4 T A 7: 104,293,977 (GRCm39) I199F probably benign Het
Or5b112 C A 19: 13,319,539 (GRCm39) P139Q probably benign Het
Or9s14 T C 1: 92,535,676 (GRCm39) L39P probably damaging Het
Osr1 G A 12: 9,629,798 (GRCm39) probably null Het
Pde4b A C 4: 102,454,896 (GRCm39) R375S probably damaging Het
Pde8a A G 7: 80,942,011 (GRCm39) E150G probably damaging Het
Pkhd1l1 A T 15: 44,408,897 (GRCm39) probably null Het
Ppp3ca A G 3: 136,634,305 (GRCm39) T422A probably benign Het
Proser1 T C 3: 53,385,180 (GRCm39) V354A possibly damaging Het
Rgs20 G T 1: 5,091,050 (GRCm39) R127S probably benign Het
Sanbr T C 11: 23,539,971 (GRCm39) K48E probably damaging Het
Sec22a T C 16: 35,167,998 (GRCm39) D171G probably benign Het
Secisbp2 A G 13: 51,827,143 (GRCm39) E417G possibly damaging Het
Serpinb6b T C 13: 33,158,895 (GRCm39) L32S probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Slc39a10 A T 1: 46,865,375 (GRCm39) S487T probably benign Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Spag6 A G 2: 18,737,925 (GRCm39) D265G probably benign Het
Spata31e2 T C 1: 26,724,950 (GRCm39) T77A probably benign Het
Sybu G T 15: 44,582,228 (GRCm39) S132* probably null Het
Virma T C 4: 11,528,776 (GRCm39) S1288P probably damaging Het
Vmn1r229 T A 17: 21,035,067 (GRCm39) V104D probably damaging Het
Vmn1r238 T C 18: 3,123,358 (GRCm39) T19A probably benign Het
Vmn2r86 C T 10: 130,289,010 (GRCm39) V164I probably benign Het
Wfdc13 G T 2: 164,528,854 (GRCm39) A64S probably damaging Het
Zfp873 C A 10: 81,896,113 (GRCm39) H318Q probably damaging Het
Zyg11a A G 4: 108,040,843 (GRCm39) probably null Het
Other mutations in Adra1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Adra1d APN 2 131,403,597 (GRCm39) missense possibly damaging 0.83
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
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
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- CTTcctccgcctcctgc -3'
Posted On 2014-04-24