Incidental Mutation 'IGL02043:Chrna1'
ID184836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna1
Ensembl Gene ENSMUSG00000027107
Gene Namecholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
SynonymsAcra, Achr-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02043
Quality Score
Status
Chromosome2
Chromosomal Location73563215-73580338 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 73568106 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 330 (E330K)
Ref Sequence ENSEMBL: ENSMUSP00000028515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028515]
PDB Structure
Crystal structure of the extracellular domain of the nicotinic acetylcholine receptor 1 subunit bound to alpha-bungarotoxin at 1.9 A resolution [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000028515
AA Change: E330K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000028515
Gene: ENSMUSG00000027107
AA Change: E330K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Neur_chan_LBD 24 231 1.5e-72 PFAM
Pfam:Neur_chan_memb 238 446 1.1e-67 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an alpha subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The alpha subunit plays a role in substrate binding and channel gating. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, kyphosis, carpotosis, absent miniature and nerve-evoked endplant potential, increased motor neuron number, and abnormal neuromuscular synapse. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik T G 4: 107,894,868 probably benign Het
Atp1b2 T C 11: 69,605,276 T33A probably benign Het
Brd2 A T 17: 34,112,616 probably benign Het
Carmil1 T C 13: 24,024,316 probably benign Het
Cdh9 A T 15: 16,856,232 D786V probably damaging Het
Cep128 A C 12: 91,266,730 probably benign Het
Cep85 T C 4: 134,155,727 T284A probably benign Het
Clec2l T C 6: 38,676,850 Y104H probably damaging Het
Clybl G T 14: 122,379,252 K226N probably damaging Het
Cmip T A 8: 117,445,328 D467E probably benign Het
Cpne3 A T 4: 19,543,340 probably null Het
Crisp4 A G 1: 18,134,100 V46A probably damaging Het
Csnk2a1 T C 2: 152,274,150 Y261H probably damaging Het
Cul5 C A 9: 53,658,673 G86V probably benign Het
Depdc7 T C 2: 104,730,281 T123A probably benign Het
Edem2 T C 2: 155,705,741 T384A probably damaging Het
F8 C T X: 75,332,641 M377I probably benign Het
Fan1 T A 7: 64,371,619 probably null Het
Fez2 T C 17: 78,381,622 D366G probably damaging Het
Gm4841 A C 18: 60,270,965 S19A probably benign Het
Gm4862 T A 3: 139,128,635 noncoding transcript Het
Hk3 T A 13: 55,015,095 Q44L probably damaging Het
Irgm1 C A 11: 48,866,815 L56F probably damaging Het
Ldlr A G 9: 21,733,499 T108A probably benign Het
Lgr4 T A 2: 110,011,290 M516K probably damaging Het
Lrp1b T C 2: 40,697,525 N3906S probably null Het
Lrrtm4 A G 6: 80,021,862 N86D possibly damaging Het
Map3k2 A G 18: 32,207,534 D198G probably damaging Het
Mapkapk3 C T 9: 107,262,422 probably null Het
Mvp A T 7: 126,993,618 Y374N probably damaging Het
Myo3a T C 2: 22,399,965 S711P probably benign Het
Myom3 A G 4: 135,770,675 K189E probably damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Nlrp10 T C 7: 108,925,502 E257G probably damaging Het
Nptn T G 9: 58,640,729 M139R possibly damaging Het
Nrk T G X: 138,988,795 M1105R possibly damaging Het
Olfr357 T A 2: 36,997,465 Y218* probably null Het
Olfr519 A T 7: 108,893,839 C189* probably null Het
Olfr963 T G 9: 39,669,078 V7G probably damaging Het
Pcdhb16 A G 18: 37,479,195 T403A probably benign Het
Pcyt1b A G X: 93,702,116 E50G possibly damaging Het
Pigg C T 5: 108,344,324 T892I probably damaging Het
Ppig T G 2: 69,735,983 probably null Het
Prr12 A G 7: 45,050,005 probably benign Het
Slc5a5 G T 8: 70,892,429 A78E possibly damaging Het
Slc7a2 T G 8: 40,911,058 M436R probably benign Het
Sp7 T A 15: 102,359,255 M39L probably benign Het
Spag8 T A 4: 43,653,134 probably benign Het
Svep1 A G 4: 58,068,556 S3077P probably benign Het
Tmem30a A T 9: 79,774,089 probably benign Het
Tmem63a C T 1: 180,972,788 T714I probably benign Het
Trank1 T C 9: 111,363,960 L535P probably damaging Het
Tuba8 A C 6: 121,220,511 N44T probably benign Het
Wnk1 A G 6: 119,949,078 probably benign Het
Zfp654 A T 16: 64,785,028 I396K probably benign Het
Other mutations in Chrna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Chrna1 APN 2 73570642 missense probably benign
IGL02553:Chrna1 APN 2 73566862 missense possibly damaging 0.79
IGL02663:Chrna1 APN 2 73574316 splice site probably benign
IGL02799:Chrna1 APN 2 73574641 splice site probably benign
IGL03369:Chrna1 APN 2 73570445 missense probably benign 0.02
R0113:Chrna1 UTSW 2 73566836 missense possibly damaging 0.88
R0513:Chrna1 UTSW 2 73568082 splice site probably benign
R0540:Chrna1 UTSW 2 73571471 missense probably damaging 1.00
R0561:Chrna1 UTSW 2 73566252 missense possibly damaging 0.84
R1922:Chrna1 UTSW 2 73568232 missense probably damaging 1.00
R5303:Chrna1 UTSW 2 73566274 missense probably benign
R5481:Chrna1 UTSW 2 73566926 missense possibly damaging 0.90
R5598:Chrna1 UTSW 2 73566731 missense probably benign 0.01
R5931:Chrna1 UTSW 2 73568100 missense probably benign 0.39
R6153:Chrna1 UTSW 2 73573309 missense probably benign 0.02
R6194:Chrna1 UTSW 2 73570472 missense probably benign 0.17
R6301:Chrna1 UTSW 2 73570484 missense possibly damaging 0.92
R6455:Chrna1 UTSW 2 73566836 missense possibly damaging 0.88
X0026:Chrna1 UTSW 2 73570611 missense probably benign 0.16
Posted On2014-05-07