Incidental Mutation 'R6787:Adrb1'
ID 532460
Institutional Source Beutler Lab
Gene Symbol Adrb1
Ensembl Gene ENSMUSG00000035283
Gene Name adrenergic receptor, beta 1
Synonyms Adrb-1, beta 1-AR
MMRRC Submission 044901-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R6787 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 56710549-56713582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56711021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 73 (V73A)
Ref Sequence ENSEMBL: ENSMUSP00000040847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038949]
AlphaFold P34971
Predicted Effect probably damaging
Transcript: ENSMUST00000038949
AA Change: V73A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040847
Gene: ENSMUSG00000035283
AA Change: V73A

DomainStartEndE-ValueType
low complexity region 19 54 N/A INTRINSIC
Pfam:7TM_GPCR_Srx 66 266 2.2e-9 PFAM
Pfam:7TM_GPCR_Srsx 69 380 1.4e-18 PFAM
Pfam:7tm_1 75 366 6.1e-82 PFAM
Pfam:7TM_GPCR_Srv 96 382 5.9e-11 PFAM
low complexity region 407 430 N/A INTRINSIC
Meta Mutation Damage Score 0.3403 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for targeted mutations that inactivate the gene die prenatally, with the penetrance of lethality showing strain dependence. Surviving knockouts appear normal, but lack the chronotropic and inotropic responses seen in wild-type mice when beta-AR agonists such as isoproterenol are administered. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,126,768 (GRCm39) T32I probably benign Het
4930486L24Rik T A 13: 61,000,922 (GRCm39) I205L probably benign Het
Aatk C T 11: 119,901,508 (GRCm39) V963M probably damaging Het
Adra1b C A 11: 43,726,242 (GRCm39) R225L probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
BC035947 G T 1: 78,475,527 (GRCm39) P335Q possibly damaging Het
C2cd3 T C 7: 100,104,553 (GRCm39) F2189L probably benign Het
Capn9 A G 8: 125,342,924 (GRCm39) I635V probably benign Het
Cep55 T A 19: 38,046,374 (GRCm39) D42E probably benign Het
Cftr T A 6: 18,274,607 (GRCm39) Y878* probably null Het
Clpb A T 7: 101,312,866 (GRCm39) probably benign Het
Cpeb3 T C 19: 37,022,089 (GRCm39) I569V possibly damaging Het
Cpne6 A T 14: 55,752,701 (GRCm39) D297V probably damaging Het
Ddhd1 T C 14: 45,894,976 (GRCm39) T165A probably benign Het
Fam98b T C 2: 117,093,402 (GRCm39) probably null Het
Frem2 T C 3: 53,561,744 (GRCm39) N921S probably benign Het
Gbf1 T A 19: 46,260,211 (GRCm39) V1039E probably benign Het
Gmip A G 8: 70,266,436 (GRCm39) E212G probably damaging Het
Gpcpd1 C T 2: 132,379,758 (GRCm39) probably benign Het
Gtf2ird1 A T 5: 134,392,766 (GRCm39) N796K probably damaging Het
Hadhb T C 5: 30,360,247 (GRCm39) probably benign Het
Itga4 T A 2: 79,119,609 (GRCm39) S472T probably damaging Het
Kcna4 G A 2: 107,125,670 (GRCm39) E135K possibly damaging Het
Kmt2c G T 5: 25,480,737 (GRCm39) probably null Het
Lama1 T C 17: 68,091,020 (GRCm39) I1620T unknown Het
Lins1 A G 7: 66,363,902 (GRCm39) E594G probably benign Het
Lrrc38 T A 4: 143,096,364 (GRCm39) M225K probably benign Het
Mphosph9 A G 5: 124,399,090 (GRCm39) I975T probably damaging Het
Mrgprh T C 17: 13,095,874 (GRCm39) F38S probably benign Het
Myo1h G A 5: 114,458,714 (GRCm39) G150R probably damaging Het
Oas2 T G 5: 120,876,863 (GRCm39) I391L possibly damaging Het
Or4a70 T A 2: 89,324,378 (GRCm39) R93* probably null Het
Or5p72 T C 7: 108,021,889 (GRCm39) I37T possibly damaging Het
Or6c3b T A 10: 129,527,391 (GRCm39) D173V possibly damaging Het
Or7e178 T C 9: 20,247,221 (GRCm39) D14G probably benign Het
Pdcd5 T C 7: 35,342,063 (GRCm39) T182A probably damaging Het
Pdlim7 T C 13: 55,656,810 (GRCm39) D48G probably damaging Het
Polr3b A C 10: 84,464,489 (GRCm39) probably null Het
Psmd5 C T 2: 34,747,649 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Sdhb T C 4: 140,703,501 (GRCm39) Y208H probably damaging Het
Serinc5 G A 13: 92,842,740 (GRCm39) V397I possibly damaging Het
Sik2 A T 9: 50,909,834 (GRCm39) M73K possibly damaging Het
Slc41a1 A G 1: 131,770,487 (GRCm39) probably null Het
Slco1a1 T C 6: 141,882,213 (GRCm39) I119V probably benign Het
Srd5a1 T C 13: 69,759,418 (GRCm39) probably benign Het
Stab2 T C 10: 86,754,948 (GRCm39) I1111V probably benign Het
Stxbp6 G T 12: 44,949,779 (GRCm39) probably null Het
Tbc1d19 A G 5: 53,992,591 (GRCm39) probably null Het
Tnxb A T 17: 34,929,710 (GRCm39) T2815S probably benign Het
Txnip T A 3: 96,467,623 (GRCm39) I363N probably damaging Het
Zfp442 A T 2: 150,251,499 (GRCm39) N134K possibly damaging Het
Other mutations in Adrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03237:Adrb1 APN 19 56,711,800 (GRCm39) missense probably damaging 1.00
R0267:Adrb1 UTSW 19 56,711,923 (GRCm39) nonsense probably null
R0352:Adrb1 UTSW 19 56,711,293 (GRCm39) missense probably damaging 1.00
R1652:Adrb1 UTSW 19 56,711,705 (GRCm39) missense possibly damaging 0.67
R4662:Adrb1 UTSW 19 56,711,206 (GRCm39) missense probably damaging 0.99
R5447:Adrb1 UTSW 19 56,711,519 (GRCm39) missense probably benign 0.45
R6155:Adrb1 UTSW 19 56,711,336 (GRCm39) missense probably damaging 1.00
R6980:Adrb1 UTSW 19 56,712,046 (GRCm39) missense probably benign 0.27
R7064:Adrb1 UTSW 19 56,711,456 (GRCm39) missense probably damaging 1.00
R7560:Adrb1 UTSW 19 56,711,120 (GRCm39) missense probably damaging 0.99
R8822:Adrb1 UTSW 19 56,711,849 (GRCm39) missense probably damaging 0.99
R9515:Adrb1 UTSW 19 56,711,825 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAAACATGCTGAGGTCCC -3'
(R):5'- CAGAAGAAGGAGCCGTACTC -3'

Sequencing Primer
(F):5'- GAACCCTGCAACCTGTCGTC -3'
(R):5'- GAGCCGTACTCCCAGCG -3'
Posted On 2018-08-29