Incidental Mutation 'IGL03181:Adra2b'
ID412230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adra2b
Ensembl Gene ENSMUSG00000058620
Gene Nameadrenergic receptor, alpha 2b
Synonymsalpha2B, [a]2B, Adra-2b
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.865) question?
Stock #IGL03181
Quality Score
Status
Chromosome2
Chromosomal Location127363208-127367221 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 127363983 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 140 (T140I)
Ref Sequence ENSEMBL: ENSMUSP00000071798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071902] [ENSMUST00000104934]
Predicted Effect probably benign
Transcript: ENSMUST00000071902
AA Change: T140I

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071798
Gene: ENSMUSG00000058620
AA Change: T140I

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 benign
Transcript: ENSMUST00000104934
AA Change: T135I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000100539
Gene: ENSMUSG00000058620
AA Change: T135I

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
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,193,373 V1319A possibly damaging Het
Abcb11 T A 2: 69,328,008 probably benign Het
Acss3 G T 10: 107,053,388 H190Q probably damaging Het
Arl1 T A 10: 88,743,059 probably benign Het
Atp4a T G 7: 30,724,704 C968G probably benign Het
BC003331 G T 1: 150,363,539 P378T probably benign Het
Clec4n T C 6: 123,230,515 C13R possibly damaging Het
Cnot3 T C 7: 3,653,248 Y178H probably damaging Het
Col18a1 G A 10: 77,055,698 R1560C probably damaging Het
Cyp2c66 T C 19: 39,142,039 F106S probably benign Het
Dcn A C 10: 97,483,452 E30D probably damaging Het
Dennd5a A T 7: 109,933,658 F302I probably damaging Het
Dip2b T C 15: 100,215,207 V1501A probably damaging Het
Dnah10 C T 5: 124,748,457 P687S probably damaging Het
Drc7 A G 8: 95,068,127 T387A probably benign Het
Dusp7 T A 9: 106,373,810 M378K probably damaging Het
Ftmt T C 18: 52,331,881 Y90H probably damaging Het
Glb1l3 T C 9: 26,828,363 probably null Het
Gm884 A T 11: 103,616,416 probably benign Het
Gpatch3 T C 4: 133,578,122 F223L probably damaging Het
Gpr158 T A 2: 21,783,161 F538I probably benign Het
Gucy2e A G 11: 69,230,182 probably benign Het
Hadha A G 5: 30,121,526 V566A probably benign Het
Hectd4 A T 5: 121,353,958 S3787C possibly damaging Het
Hnrnpk A T 13: 58,394,316 D265E possibly damaging Het
Hspbp1 G A 7: 4,684,364 R83W probably damaging Het
Hspg2 T A 4: 137,515,937 L758Q probably damaging Het
Ippk A G 13: 49,441,987 Y180C probably damaging Het
Itpr3 T A 17: 27,111,268 M1620K probably benign Het
Klf7 T C 1: 64,035,726 K298R possibly damaging Het
Ktn1 A T 14: 47,733,284 T1229S probably benign Het
Lefty2 A G 1: 180,897,550 N282D probably damaging Het
Nsd1 G A 13: 55,247,045 E820K probably damaging Het
Obsl1 C A 1: 75,492,584 A1238S probably benign Het
Pias2 T C 18: 77,133,242 I391T possibly damaging Het
Ppp1r10 G T 17: 35,930,624 G764* probably null Het
Ptpra T C 2: 130,517,787 F158L probably damaging Het
Recql T C 6: 142,378,192 S59G probably benign Het
Rrp1b A T 17: 32,057,176 I566F probably benign Het
Sh3yl1 G A 12: 30,941,980 D145N possibly damaging Het
Slc35f5 T A 1: 125,585,185 I52N probably damaging Het
Slc51b A G 9: 65,415,165 probably null Het
Smpd4 C T 16: 17,625,807 Q72* probably null Het
Spata6 A G 4: 111,822,766 D391G probably benign Het
Tnc T A 4: 63,967,306 D1853V possibly damaging Het
Tnks1bp1 C T 2: 85,062,714 T333I probably benign Het
Vmn2r100 T A 17: 19,531,945 I813N probably damaging Het
Vwa8 T A 14: 79,009,250 H677Q probably benign Het
Washc4 T C 10: 83,591,019 Y1064H probably damaging Het
Wdr82 T A 9: 106,186,415 I272K probably benign Het
Zc3h12a T C 4: 125,119,304 Y589C probably damaging Het
Other mutations in Adra2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0081:Adra2b UTSW 2 127364292 missense probably benign
R1964:Adra2b UTSW 2 127363814 missense probably damaging 1.00
R2265:Adra2b UTSW 2 127363871 missense probably damaging 1.00
R3156:Adra2b UTSW 2 127363650 missense probably damaging 1.00
R3818:Adra2b UTSW 2 127363835 nonsense probably null
R4818:Adra2b UTSW 2 127364092 nonsense probably null
R5893:Adra2b UTSW 2 127364482 missense probably benign 0.01
Z1176:Adra2b UTSW 2 127364038 missense probably benign 0.13
Posted On2016-08-02