Incidental Mutation 'IGL03237:Adrb1'
ID414110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adrb1
Ensembl Gene ENSMUSG00000035283
Gene Nameadrenergic receptor, beta 1
SynonymsAdrb-1, beta 1-AR
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.538) question?
Stock #IGL03237
Quality Score
Status
Chromosome19
Chromosomal Location56722372-56724862 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56723368 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 333 (N333Y)
Ref Sequence ENSEMBL: ENSMUSP00000040847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038949]
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: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign Het
Other mutations in Adrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0267:Adrb1 UTSW 19 56723491 nonsense probably null
R0352:Adrb1 UTSW 19 56722861 missense probably damaging 1.00
R1652:Adrb1 UTSW 19 56723273 missense possibly damaging 0.67
R4662:Adrb1 UTSW 19 56722774 missense probably damaging 0.99
R5447:Adrb1 UTSW 19 56723087 missense probably benign 0.45
R6155:Adrb1 UTSW 19 56722904 missense probably damaging 1.00
R6787:Adrb1 UTSW 19 56722589 missense probably damaging 0.99
R6980:Adrb1 UTSW 19 56723614 missense probably benign 0.27
R7064:Adrb1 UTSW 19 56723024 missense probably damaging 1.00
R7560:Adrb1 UTSW 19 56722688 missense probably damaging 0.99
Posted On2016-08-02