Incidental Mutation 'R3156:Adra2b'
ID 263488
Institutional Source Beutler Lab
Gene Symbol Adra2b
Ensembl Gene ENSMUSG00000058620
Gene Name adrenergic receptor, alpha 2b
Synonyms alpha2B, [a]2B, a2b-AR, Adra-2b
MMRRC Submission 040607-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.839) question?
Stock # R3156 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 127205128-127209141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127205570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 29 (L29P)
Ref Sequence ENSEMBL: ENSMUSP00000071798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071902] [ENSMUST00000104934]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071902
AA Change: L29P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071798
Gene: ENSMUSG00000058620
AA Change: L29P

DomainStartEndE-ValueType
Pfam:7tm_4 23 168 1.7e-9 PFAM
Pfam:7TM_GPCR_Srx 25 159 9.5e-10 PFAM
Pfam:7TM_GPCR_Srsx 28 218 1.2e-10 PFAM
Pfam:7tm_1 34 429 6.8e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000104934
AA Change: L24P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100539
Gene: ENSMUSG00000058620
AA Change: L24P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 20 154 4e-9 PFAM
Pfam:7TM_GPCR_Srsx 23 213 1.9e-10 PFAM
Pfam:7tm_1 29 424 7e-77 PFAM
Meta Mutation Damage Score 0.4260 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous null mice exhibit poor survival and breeding, lack the vasoconstrictor response to alpha2-adrenergic receptor agonists, and display background strain dependent postnatal respiratory failure. Heterozygotes show an attenuated hypertensive response to subtotal nephrectomy and salt loading. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T C 1: 85,859,104 (GRCm39) probably benign Het
Anxa9 A T 3: 95,209,716 (GRCm39) D134E probably benign Het
Atad1 A T 19: 32,684,355 (GRCm39) N14K probably benign Het
Cbl T C 9: 44,070,147 (GRCm39) I533M possibly damaging Het
Cdca2 T C 14: 67,935,612 (GRCm39) N368D possibly damaging Het
Cfap45 A T 1: 172,373,291 (GRCm39) N543Y possibly damaging Het
Col4a2 T A 8: 11,363,414 (GRCm39) probably benign Het
Dis3l T C 9: 64,219,032 (GRCm39) T633A probably benign Het
Dnah5 G A 15: 28,438,237 (GRCm39) probably benign Het
Fut2 A T 7: 45,300,091 (GRCm39) L227Q probably damaging Het
Gcnt2 T C 13: 41,014,654 (GRCm39) V275A probably benign Het
Glrp1 C A 1: 88,430,976 (GRCm39) Q131H unknown Het
Gm6871 T C 7: 41,223,079 (GRCm39) N3S probably benign Het
Hmgcs1 C T 13: 120,166,614 (GRCm39) T402I probably benign Het
Hps6 A G 19: 45,992,180 (GRCm39) D39G probably damaging Het
Mab21l4 T A 1: 93,087,764 (GRCm39) I30F possibly damaging Het
Mycbp2 A T 14: 103,446,179 (GRCm39) probably benign Het
Myh6 A G 14: 55,182,125 (GRCm39) I1761T probably damaging Het
Neo1 T C 9: 58,796,262 (GRCm39) probably null Het
Or4k15c T C 14: 50,321,982 (GRCm39) D52G probably benign Het
Or7g27 A G 9: 19,250,720 (GRCm39) probably null Het
Patj A G 4: 98,562,465 (GRCm39) E1478G probably damaging Het
Paxbp1 T C 16: 90,832,878 (GRCm39) T304A probably benign Het
Rbp3 A T 14: 33,679,071 (GRCm39) K1006N probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ror2 G T 13: 53,271,400 (GRCm39) N306K probably damaging Het
Rusc1 T C 3: 88,999,038 (GRCm39) D248G probably benign Het
Secisbp2 A G 13: 51,816,711 (GRCm39) T288A probably benign Het
Setbp1 A G 18: 78,902,518 (GRCm39) V383A probably benign Het
Sez6 T A 11: 77,844,605 (GRCm39) S143T possibly damaging Het
Slc5a9 A T 4: 111,747,421 (GRCm39) I322N possibly damaging Het
Szt2 A G 4: 118,260,016 (GRCm39) probably null Het
Tex2 A G 11: 106,424,695 (GRCm39) probably null Het
Tonsl A T 15: 76,523,721 (GRCm39) L64Q probably damaging Het
Triml2 A G 8: 43,640,716 (GRCm39) N191D probably benign Het
Trpc1 C T 9: 95,603,185 (GRCm39) probably null Het
Yeats4 C T 10: 117,058,186 (GRCm39) V22I probably benign Het
Other mutations in Adra2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03181:Adra2b APN 2 127,205,903 (GRCm39) missense probably benign 0.09
R0081:Adra2b UTSW 2 127,206,212 (GRCm39) missense probably benign
R1964:Adra2b UTSW 2 127,205,734 (GRCm39) missense probably damaging 1.00
R2265:Adra2b UTSW 2 127,205,791 (GRCm39) missense probably damaging 1.00
R3818:Adra2b UTSW 2 127,205,755 (GRCm39) nonsense probably null
R4818:Adra2b UTSW 2 127,206,012 (GRCm39) nonsense probably null
R5893:Adra2b UTSW 2 127,206,402 (GRCm39) missense probably benign 0.01
R8197:Adra2b UTSW 2 127,206,578 (GRCm39) missense possibly damaging 0.94
R8518:Adra2b UTSW 2 127,206,056 (GRCm39) missense probably damaging 1.00
R8706:Adra2b UTSW 2 127,206,487 (GRCm39) missense probably benign
R8787:Adra2b UTSW 2 127,206,417 (GRCm39) missense probably benign 0.02
R8955:Adra2b UTSW 2 127,205,504 (GRCm39) missense probably benign
R9104:Adra2b UTSW 2 127,205,858 (GRCm39) missense probably damaging 1.00
R9574:Adra2b UTSW 2 127,206,283 (GRCm39) missense probably benign 0.01
Z1176:Adra2b UTSW 2 127,205,958 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- ATAGATGGTCCTGGGTGTCC -3'
(R):5'- GTACAGAAGAGCACGTCTAGC -3'

Sequencing Primer
(F):5'- AGGCTACGGTGCTCCAGAG -3'
(R):5'- AAGAGCACGTCTAGCGCCAG -3'
Posted On 2015-02-05