Incidental Mutation 'R3818:Adra2b'
ID 274768
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 040772-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.839) question?
Stock # R3818 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 127205128-127209141 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 127205755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 86 (E86*)
Ref Sequence ENSEMBL: ENSMUSP00000100539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071902] [ENSMUST00000104934]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000071902
AA Change: E91*
SMART Domains Protein: ENSMUSP00000071798
Gene: ENSMUSG00000058620
AA Change: E91*

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 null
Transcript: ENSMUST00000104934
AA Change: E86*
SMART Domains Protein: ENSMUSP00000100539
Gene: ENSMUSG00000058620
AA Change: E86*

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 0.9711 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 100% (34/34)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310011J03Rik T C 10: 80,155,351 (GRCm39) D54G probably damaging Het
Cachd1 A T 4: 100,848,062 (GRCm39) D1059V probably damaging Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Col25a1 A G 3: 130,343,720 (GRCm39) K396R possibly damaging Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Cyp4a30b G T 4: 115,316,206 (GRCm39) A311S probably damaging Het
Dse T C 10: 34,029,429 (GRCm39) I554V probably benign Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Gpr21 C A 2: 37,408,324 (GRCm39) T290N probably damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
Hivep2 T C 10: 14,019,685 (GRCm39) V2152A possibly damaging Het
Mamdc4 C T 2: 25,455,785 (GRCm39) S840N probably benign Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8i2 G A 2: 86,852,054 (GRCm39) T278I probably benign Het
Pah A G 10: 87,357,866 (GRCm39) probably benign Het
Pikfyve T A 1: 65,284,917 (GRCm39) S794T probably damaging Het
Plekhn1 T C 4: 156,309,990 (GRCm39) H108R probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Prkd1 A T 12: 50,466,667 (GRCm39) probably benign Het
Pwp1 C T 10: 85,723,993 (GRCm39) P498L possibly damaging Het
Rasa4 A G 5: 136,131,147 (GRCm39) T414A possibly damaging Het
Rbm26 A T 14: 105,378,706 (GRCm39) L594I probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Sorcs3 A G 19: 48,592,343 (GRCm39) N336S probably benign Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Tlr4 A G 4: 66,759,553 (GRCm39) E782G probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttl T C 2: 128,934,914 (GRCm39) V358A probably damaging Het
Wdhd1 A G 14: 47,481,258 (GRCm39) probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign Het
Zfp939 T C 7: 39,122,792 (GRCm39) noncoding transcript 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
R3156:Adra2b UTSW 2 127,205,570 (GRCm39) missense probably damaging 1.00
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'- GCAATGCGCTGGTAATTCTG -3'
(R):5'- TCTTGGTTGAGCTCACACTG -3'

Sequencing Primer
(F):5'- AATTCTGGCTGTGTTGACCAGC -3'
(R):5'- TTGAGCTCACACTGGGGGAG -3'
Posted On 2015-04-02