Incidental Mutation 'R4553:Adra2a'
ID 341796
Institutional Source Beutler Lab
Gene Symbol Adra2a
Ensembl Gene ENSMUSG00000033717
Gene Name adrenergic receptor, alpha 2a
Synonyms alpha2A-adrenergic receptor, Adra-2, alpha2A-AR, alpha(2A)AR, alpha2A, Adra-2a
MMRRC Submission 041595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4553 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 54033690-54037413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54035166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 174 (V174A)
Ref Sequence ENSEMBL: ENSMUSP00000036203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036700]
AlphaFold Q01338
Predicted Effect possibly damaging
Transcript: ENSMUST00000036700
AA Change: V174A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036203
Gene: ENSMUSG00000033717
AA Change: V174A

DomainStartEndE-ValueType
Pfam:7tm_4 55 237 1.5e-7 PFAM
Pfam:7TM_GPCR_Srx 56 188 2.5e-6 PFAM
Pfam:7TM_GPCR_Srsx 59 245 3.7e-7 PFAM
Pfam:7tm_1 65 441 1.5e-73 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene fail to produce hypotensive responsiveness to alpha2AR agonists, including failure to inhibit voltage-gated Ca2+ currents and spontaneous neuronal firing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik T C 5: 114,951,254 (GRCm39) Y49C probably damaging Het
Adat1 T C 8: 112,716,912 (GRCm39) T32A probably damaging Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
Cand2 C A 6: 115,769,172 (GRCm39) R661S probably damaging Het
Cd274 T C 19: 29,357,848 (GRCm39) V180A probably benign Het
Crat T C 2: 30,298,229 (GRCm39) T157A probably benign Het
Cts6 G A 13: 61,345,407 (GRCm39) P230L probably damaging Het
Dppa2 A G 16: 48,130,877 (GRCm39) Y3C possibly damaging Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Garin1a A G 6: 29,287,705 (GRCm39) I210M probably benign Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Hgfac T A 5: 35,200,200 (GRCm39) C130S probably damaging Het
Ifi35 T C 11: 101,348,717 (GRCm39) V188A probably damaging Het
Iqsec2 A G X: 150,994,277 (GRCm39) H585R probably benign Het
Itih4 T C 14: 30,622,910 (GRCm39) L842P probably damaging Het
Kif3a C A 11: 53,469,745 (GRCm39) L119I possibly damaging Het
Lrp2 T C 2: 69,343,629 (GRCm39) D910G probably benign Het
Lyve1 T C 7: 110,451,567 (GRCm39) probably null Het
Mtss2 A G 8: 111,465,137 (GRCm39) T464A probably damaging Het
Mx2 A G 16: 97,353,205 (GRCm39) T398A possibly damaging Het
Nlrp4e T C 7: 23,020,404 (GRCm39) M297T probably benign Het
Nog A G 11: 89,192,248 (GRCm39) L200P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Phf11b G A 14: 59,578,734 (GRCm39) P11S probably benign Het
Plcb1 T C 2: 135,177,413 (GRCm39) S582P probably benign Het
Pld1 G T 3: 28,178,851 (GRCm39) R915L probably benign Het
Sell C T 1: 163,899,685 (GRCm39) T34I probably benign Het
Slc34a1 G A 13: 55,559,874 (GRCm39) probably null Het
Slc8b1 T C 5: 120,667,663 (GRCm39) V432A probably damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,517 (GRCm39) F177Y probably damaging Het
Xab2 T C 8: 3,661,015 (GRCm39) T700A probably benign Het
Other mutations in Adra2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
splenda UTSW 19 54,034,926 (GRCm39) missense probably damaging 1.00
splenda2 UTSW 19 54,035,070 (GRCm39) missense probably damaging 1.00
R0245:Adra2a UTSW 19 54,035,840 (GRCm39) missense probably damaging 1.00
R1933:Adra2a UTSW 19 54,034,837 (GRCm39) missense probably damaging 1.00
R2175:Adra2a UTSW 19 54,034,793 (GRCm39) missense probably benign 0.04
R4781:Adra2a UTSW 19 54,034,926 (GRCm39) missense probably damaging 1.00
R4984:Adra2a UTSW 19 54,035,070 (GRCm39) missense probably damaging 1.00
R5260:Adra2a UTSW 19 54,035,039 (GRCm39) missense probably damaging 1.00
R5326:Adra2a UTSW 19 54,035,112 (GRCm39) missense probably damaging 1.00
R5585:Adra2a UTSW 19 54,034,670 (GRCm39) missense probably benign 0.00
R6861:Adra2a UTSW 19 54,034,818 (GRCm39) missense probably damaging 1.00
R7290:Adra2a UTSW 19 54,034,835 (GRCm39) missense probably damaging 1.00
R7677:Adra2a UTSW 19 54,035,375 (GRCm39) missense probably damaging 1.00
R7836:Adra2a UTSW 19 54,034,659 (GRCm39) missense probably benign 0.41
R8997:Adra2a UTSW 19 54,035,729 (GRCm39) missense probably benign 0.04
R9486:Adra2a UTSW 19 54,035,963 (GRCm39) missense probably damaging 1.00
R9544:Adra2a UTSW 19 54,035,454 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- GCCAACGAGGTTATGGGTTAC -3'
(R):5'- GCTTGGCGATCTGGTAAATACG -3'

Sequencing Primer
(F):5'- CAACGAGGTTATGGGTTACTGGTAC -3'
(R):5'- TCTGGTAAATACGCACGTAGAC -3'
Posted On 2015-09-24