Incidental Mutation 'IGL03237:Adrb1'
ID 414110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adrb1
Ensembl Gene ENSMUSG00000035283
Gene Name adrenergic receptor, beta 1
Synonyms Adrb-1, beta 1-AR
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # IGL03237
Quality Score
Status
Chromosome 19
Chromosomal Location 56710549-56713582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56711800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 333 (N333Y)
Ref Sequence ENSEMBL: ENSMUSP00000040847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038949]
AlphaFold P34971
Predicted Effect probably damaging
Transcript: ENSMUST00000038949
AA Change: N333Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040847
Gene: ENSMUSG00000035283
AA Change: N333Y

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
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,929,388 (GRCm39) Y405C probably benign Het
Adam19 A G 11: 46,028,383 (GRCm39) K672R probably benign Het
Adamts7 C A 9: 90,070,717 (GRCm39) P613T probably damaging Het
Adgrl1 G T 8: 84,656,312 (GRCm39) probably null Het
Aqp7 C T 4: 41,034,884 (GRCm39) V190M possibly damaging Het
Atg101 T C 15: 101,185,054 (GRCm39) F59L probably damaging Het
Capn12 T C 7: 28,590,366 (GRCm39) S638P probably damaging Het
Ccm2l T C 2: 152,907,922 (GRCm39) probably benign Het
Cdc14a A T 3: 116,198,275 (GRCm39) probably benign Het
Cdh20 A T 1: 110,066,037 (GRCm39) K770N possibly damaging Het
Clxn A G 16: 14,738,652 (GRCm39) D161G probably damaging Het
Col23a1 A C 11: 51,458,746 (GRCm39) E294D possibly damaging Het
Cped1 A T 6: 22,233,595 (GRCm39) Y679F probably damaging Het
Ctu2 A G 8: 123,205,792 (GRCm39) E180G probably benign Het
Cyp11b2 C T 15: 74,722,914 (GRCm39) V495I probably benign Het
Ecpas A T 4: 58,810,668 (GRCm39) M1563K probably benign Het
Gabrg3 A T 7: 56,632,460 (GRCm39) probably null Het
Hsd17b11 A G 5: 104,151,036 (GRCm39) *233Q probably null Het
Klhl41 T C 2: 69,500,902 (GRCm39) V121A possibly damaging Het
Kptn A T 7: 15,854,050 (GRCm39) D56V probably damaging Het
L3mbtl4 T A 17: 69,084,856 (GRCm39) I589N probably damaging Het
Lpl A T 8: 69,347,378 (GRCm39) N177Y possibly damaging Het
Manba G A 3: 135,250,512 (GRCm39) V380M probably damaging Het
Mecom A T 3: 30,010,648 (GRCm39) probably benign Het
Mertk A G 2: 128,632,192 (GRCm39) E707G probably damaging Het
Myo5a A T 9: 75,037,276 (GRCm39) I160F probably damaging Het
Myo7a A T 7: 97,751,800 (GRCm39) I81N probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nipal1 C T 5: 72,824,150 (GRCm39) R76C probably damaging Het
Noc3l C T 19: 38,803,125 (GRCm39) probably null Het
Nt5e A G 9: 88,237,787 (GRCm39) D239G probably damaging Het
Olr1 A C 6: 129,479,117 (GRCm39) W34G probably damaging Het
Plekhf1 A T 7: 37,920,799 (GRCm39) N256K probably benign Het
Psen2 T C 1: 180,068,414 (GRCm39) T80A possibly damaging Het
Psg27 A G 7: 18,294,417 (GRCm39) I330T probably benign Het
Ranbp2 T C 10: 58,328,783 (GRCm39) V2894A probably damaging Het
Sgcz A T 8: 38,030,332 (GRCm39) D170E probably benign Het
Snrnp200 C T 2: 127,075,233 (GRCm39) A1573V probably damaging Het
Steap3 C T 1: 120,171,520 (GRCm39) G195D probably damaging Het
Tmem165 T A 5: 76,347,356 (GRCm39) Y5* probably null Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Vmn2r67 A T 7: 84,799,118 (GRCm39) C530S probably damaging Het
Wdfy3 T A 5: 101,992,465 (GRCm39) D3389V probably damaging Het
Zfp128 A C 7: 12,624,953 (GRCm39) E440D probably benign Het
Other mutations in Adrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6787:Adrb1 UTSW 19 56,711,021 (GRCm39) missense probably damaging 0.99
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
Posted On 2016-08-02