Incidental Mutation 'IGL01983:Chrnb1'
ID183522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrnb1
Ensembl Gene ENSMUSG00000041189
Gene Namecholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
SynonymsAChR beta, Acrb, Achr-2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.567) question?
Stock #IGL01983
Quality Score
Status
Chromosome11
Chromosomal Location69784036-69795943 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 69795729 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 22 (R22S)
Ref Sequence ENSEMBL: ENSMUSP00000047270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011285] [ENSMUST00000045971] [ENSMUST00000102585]
Predicted Effect probably benign
Transcript: ENSMUST00000011285
SMART Domains Protein: ENSMUSP00000011285
Gene: ENSMUSG00000042826

DomainStartEndE-ValueType
FGF 69 172 6.95e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000045971
AA Change: R22S

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047270
Gene: ENSMUSG00000041189
AA Change: R22S

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:Neur_chan_LBD 27 245 3.6e-65 PFAM
Pfam:Neur_chan_memb 252 487 3.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102585
SMART Domains Protein: ENSMUSP00000099645
Gene: ENSMUSG00000042826

DomainStartEndE-ValueType
FGF 69 200 3.43e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154816
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele lack all tyrosine residues in the beta subunit intracellular loop, display reduced and simplified neuromuscular junctions, and show defective acetylcholine receptor clustering and anchoring at synapses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,841,624 Q328* probably null Het
Alpk2 T C 18: 65,350,682 Y85C probably damaging Het
Arhgap31 C T 16: 38,601,765 R1313Q probably damaging Het
Clec7a G A 6: 129,465,576 probably benign Het
Epb41l5 A G 1: 119,579,084 probably benign Het
Fam49b A G 15: 63,937,387 S251P probably benign Het
Gm10093 T A 17: 78,492,853 D424E probably benign Het
Hydin A C 8: 110,514,895 I2106L probably benign Het
Igkv3-5 T A 6: 70,663,686 D50E probably benign Het
Irf2bp1 G T 7: 19,005,295 A287S possibly damaging Het
Ldb3 G A 14: 34,577,199 S156L probably benign Het
Lnpep A T 17: 17,531,178 W942R probably damaging Het
Mst1r T A 9: 107,917,276 V1218D probably damaging Het
Naxd G T 8: 11,510,218 probably benign Het
Nol9 T C 4: 152,046,037 probably null Het
Nus1 T A 10: 52,436,657 L295Q probably damaging Het
Nxph2 A G 2: 23,399,934 I99M probably benign Het
Plekhg1 T A 10: 3,945,904 I432N probably damaging Het
Pon3 A G 6: 5,240,974 L69S probably damaging Het
Pram1 C A 17: 33,640,861 A134D probably damaging Het
Serpinb6c T A 13: 33,897,334 probably benign Het
Stk10 A T 11: 32,589,460 E280V probably benign Het
Tbc1d10c T A 19: 4,190,709 Q34L possibly damaging Het
Tnr G A 1: 159,863,779 V500I probably benign Het
Trim66 G A 7: 109,458,251 R992* probably null Het
Unc45b A G 11: 82,936,861 D728G probably benign Het
Usp13 A G 3: 32,917,459 D696G probably damaging Het
Utrn C T 10: 12,669,781 V1707I probably benign Het
Vmn2r96 A T 17: 18,597,265 H368L probably damaging Het
Xrn1 T C 9: 95,973,368 probably null Het
Zfhx3 C A 8: 108,947,234 L1639M probably damaging Het
Znfx1 A T 2: 167,056,350 V218E probably damaging Het
Other mutations in Chrnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Chrnb1 APN 11 69793916 missense probably damaging 1.00
IGL01924:Chrnb1 APN 11 69795019 unclassified probably benign
IGL02100:Chrnb1 APN 11 69793455 unclassified probably benign
IGL02507:Chrnb1 APN 11 69785090 missense probably damaging 1.00
IGL02814:Chrnb1 APN 11 69795680 missense probably damaging 1.00
IGL02858:Chrnb1 APN 11 69785109 missense possibly damaging 0.58
R0368:Chrnb1 UTSW 11 69784757 missense probably damaging 1.00
R1728:Chrnb1 UTSW 11 69785762 missense probably damaging 1.00
R1913:Chrnb1 UTSW 11 69793584 missense possibly damaging 0.95
R1930:Chrnb1 UTSW 11 69792737 missense possibly damaging 0.81
R2233:Chrnb1 UTSW 11 69795602 missense probably damaging 0.98
R2234:Chrnb1 UTSW 11 69795602 missense probably damaging 0.98
R3971:Chrnb1 UTSW 11 69792916 unclassified probably benign
R4183:Chrnb1 UTSW 11 69787096 missense possibly damaging 0.50
R4425:Chrnb1 UTSW 11 69786947 missense probably damaging 1.00
R4822:Chrnb1 UTSW 11 69795675 missense possibly damaging 0.55
R4983:Chrnb1 UTSW 11 69793978 missense probably damaging 1.00
R5000:Chrnb1 UTSW 11 69787032 missense probably damaging 0.96
R5378:Chrnb1 UTSW 11 69785181 missense probably benign 0.00
R5396:Chrnb1 UTSW 11 69794153 missense probably damaging 1.00
R5540:Chrnb1 UTSW 11 69795650 missense probably benign 0.30
R5574:Chrnb1 UTSW 11 69793683 unclassified probably benign
R5890:Chrnb1 UTSW 11 69792729 missense possibly damaging 0.94
R5973:Chrnb1 UTSW 11 69795845 unclassified probably benign
R6056:Chrnb1 UTSW 11 69786939 missense probably damaging 1.00
R7466:Chrnb1 UTSW 11 69784650 missense probably damaging 1.00
R7633:Chrnb1 UTSW 11 69792873 missense probably damaging 1.00
R7664:Chrnb1 UTSW 11 69787024 missense possibly damaging 0.80
Z1177:Chrnb1 UTSW 11 69794189 missense possibly damaging 0.95
Posted On2014-05-07