Incidental Mutation 'R8159:Adrb3'
ID 633437
Institutional Source Beutler Lab
Gene Symbol Adrb3
Ensembl Gene ENSMUSG00000031489
Gene Name adrenergic receptor, beta 3
Synonyms Adrb-3, Beta-3 AR, Beta-3 adrenoceptor, beta3-adrenergic receptor, beta 3-AR
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.467) question?
Stock # R8159 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 27225776-27250616 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 27228071 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 117 (C117G)
Ref Sequence ENSEMBL: ENSMUSP00000113732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081438] [ENSMUST00000117565] [ENSMUST00000121838] [ENSMUST00000209299]
AlphaFold P25962
Predicted Effect probably benign
Transcript: ENSMUST00000081438
AA Change: C117G

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080162
Gene: ENSMUSG00000031489
AA Change: C117G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 43 240 1.1e-6 PFAM
Pfam:7TM_GPCR_Srsx 45 357 2.3e-14 PFAM
Pfam:7tm_1 51 343 9.3e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117565
AA Change: C117G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113732
Gene: ENSMUSG00000031489
AA Change: C117G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 43 240 1.8e-6 PFAM
Pfam:7TM_GPCR_Srsx 45 357 2.4e-14 PFAM
Pfam:7tm_1 51 343 4.9e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121838
AA Change: C117G

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113006
Gene: ENSMUSG00000031489
AA Change: C117G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 43 240 1.1e-6 PFAM
Pfam:7TM_GPCR_Srsx 45 357 2.3e-14 PFAM
Pfam:7tm_1 51 343 9.3e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209299
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for targeted null mutations develop greater adiposity, especially on a high-fat diet, and are unresponsive to the beta3-adrenergic receptor agonist, CL316,243. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C T 16: 14,472,930 T1468I probably damaging Het
Aff4 A T 11: 53,411,894 S1065C possibly damaging Het
Agrn G A 4: 156,172,368 A1260V probably benign Het
Auts2 A G 5: 131,460,125 probably null Het
BC005537 T A 13: 24,809,933 H159Q probably benign Het
C130079G13Rik C A 3: 59,936,422 P179Q probably damaging Het
Cacna2d4 A G 6: 119,297,527 D625G probably benign Het
Cd72 A G 4: 43,450,174 Y245H probably damaging Het
Ceacam20 G T 7: 19,976,184 V378L probably damaging Het
Chpf C T 1: 75,478,792 R105K probably null Het
Chst9 A T 18: 15,452,308 Y399* probably null Het
Cntn5 A G 9: 10,145,381 I108T possibly damaging Het
Col14a1 A G 15: 55,427,928 T931A unknown Het
D630045J12Rik T C 6: 38,128,475 H1890R probably damaging Het
Dkk2 T C 3: 132,174,978 I128T probably benign Het
Ece2 C T 16: 20,611,784 P54S probably damaging Het
Fam160b1 T C 19: 57,384,265 probably null Het
Fry A T 5: 150,399,533 T1050S probably benign Het
Gfra2 A G 14: 70,895,957 K76E probably damaging Het
Gigyf1 A T 5: 137,522,195 D423V unknown Het
Gpr180 G A 14: 118,153,890 G235R probably damaging Het
Herc1 A G 9: 66,461,721 Q403R probably null Het
Hes5 A G 4: 154,961,045 N17S probably benign Het
Insrr T A 3: 87,800,428 L59H probably damaging Het
Irs1 A C 1: 82,288,569 I642S probably damaging Het
Mettl22 T C 16: 8,488,769 V363A probably benign Het
Mpp6 A T 6: 50,194,547 E392V probably benign Het
Notch2 A G 3: 98,120,922 H983R possibly damaging Het
Nynrin T G 14: 55,863,130 S126A probably damaging Het
Nynrin A T 14: 55,865,060 M729L probably benign Het
Olfr18 A C 9: 20,314,719 I67S possibly damaging Het
Olfr620 G A 7: 103,612,140 T71I possibly damaging Het
Otof C T 5: 30,380,194 G1257D probably benign Het
Pcdhgc5 A G 18: 37,821,122 E483G probably benign Het
Phldb2 T C 16: 45,860,384 E20G possibly damaging Het
Ptprz1 A G 6: 23,001,663 I1251V probably benign Het
Rfx2 A T 17: 56,803,605 M127K probably benign Het
Slc9a3 A G 13: 74,164,288 N668S probably benign Het
Smg6 G A 11: 75,038,639 V965M probably damaging Het
Spen A T 4: 141,475,003 H2104Q possibly damaging Het
Svep1 C T 4: 58,069,396 E2797K possibly damaging Het
Svep1 T C 4: 58,087,815 S1755G probably benign Het
Sycp2 A C 2: 178,354,977 S1144R probably damaging Het
Tsen54 T A 11: 115,820,978 L407* probably null Het
Uba1y T A Y: 828,806 I538K possibly damaging Het
Vil1 C A 1: 74,423,977 H440N probably benign Het
Other mutations in Adrb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0639:Adrb3 UTSW 8 27228265 missense probably damaging 0.97
R0786:Adrb3 UTSW 8 27226852 unclassified probably benign
R1370:Adrb3 UTSW 8 27227770 splice site probably null
R1449:Adrb3 UTSW 8 27227387 missense probably damaging 1.00
R1874:Adrb3 UTSW 8 27227563 missense probably damaging 1.00
R3426:Adrb3 UTSW 8 27228181 missense probably damaging 1.00
R3428:Adrb3 UTSW 8 27228181 missense probably damaging 1.00
R4941:Adrb3 UTSW 8 27227422 missense probably damaging 1.00
R4989:Adrb3 UTSW 8 27227770 missense probably damaging 1.00
R4994:Adrb3 UTSW 8 27227827 splice site probably null
R5133:Adrb3 UTSW 8 27227770 missense probably damaging 1.00
R5134:Adrb3 UTSW 8 27227770 missense probably damaging 1.00
R5162:Adrb3 UTSW 8 27227320 missense probably benign 0.25
R5342:Adrb3 UTSW 8 27226781 nonsense probably null
R5656:Adrb3 UTSW 8 27227377 missense probably damaging 0.99
R9020:Adrb3 UTSW 8 27227919 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCGAGCATAGACGAAGAGC -3'
(R):5'- TAATCATAGCCATCGCCCGC -3'

Sequencing Primer
(F):5'- CAGCGCATAGGGCATGTTG -3'
(R):5'- GCACGCCGAGACTACAG -3'
Posted On 2020-07-13