Incidental Mutation 'IGL02553:Chrna1'
ID298576
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 #IGL02553
Quality Score
Status
Chromosome2
Chromosomal Location73563215-73580338 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 73566862 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 361 (I361N)
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 possibly damaging
Transcript: ENSMUST00000028515
AA Change: I361N

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028515
Gene: ENSMUSG00000027107
AA Change: I361N

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,351,924 S1326P probably damaging Het
Alpk1 A T 3: 127,673,321 L1103Q probably damaging Het
Arhgap11a A C 2: 113,837,561 probably benign Het
Arl6ip6 A G 2: 53,192,214 Y31C possibly damaging Het
Arpin G T 7: 79,927,647 D217E possibly damaging Het
Atp13a4 C T 16: 29,422,703 V735I probably benign Het
Ccdc146 A T 5: 21,297,633 F753L probably benign Het
Cdh3 T A 8: 106,544,248 L511* probably null Het
Clk2 G A 3: 89,175,713 R432H probably damaging Het
Col9a1 T C 1: 24,221,937 probably benign Het
Cstf1 G T 2: 172,377,854 R295L probably benign Het
Dsg2 A G 18: 20,592,410 D526G probably damaging Het
Dsg4 T A 18: 20,462,520 H593Q probably benign Het
Dysf T C 6: 84,130,127 Y1171H possibly damaging Het
Erbb4 A G 1: 68,305,864 L566P probably benign Het
Fam185a T A 5: 21,455,831 D281E probably damaging Het
Fam185a T A 5: 21,429,841 probably benign Het
Fam91a1 T A 15: 58,432,982 probably null Het
Fat2 A G 11: 55,311,283 W322R probably damaging Het
Fbxw8 T A 5: 118,066,060 probably benign Het
Ganc A G 2: 120,458,134 T874A probably benign Het
Gm3543 T C 14: 41,980,091 I145M probably benign Het
Gtf2i G A 5: 134,245,161 T712I probably damaging Het
Hk1 A G 10: 62,295,773 S268P possibly damaging Het
Hmcn1 A G 1: 150,993,023 V10A probably benign Het
Hsd17b4 C T 18: 50,162,097 probably benign Het
Ighv1-75 A T 12: 115,834,105 W66R probably damaging Het
Kif21b G T 1: 136,154,121 D636Y probably damaging Het
Kif5b A T 18: 6,220,914 I398N probably benign Het
Metap2 T C 10: 93,865,449 M165V probably damaging Het
Mterf2 A C 10: 85,120,467 L98V probably damaging Het
Muc16 A G 9: 18,498,553 probably null Het
Myo3b A G 2: 70,095,224 M12V probably benign Het
Nat10 C A 2: 103,752,668 R136I probably damaging Het
Nsd2 T G 5: 33,846,198 S231A probably damaging Het
Olfr1243 T C 2: 89,527,931 T160A probably benign Het
Olfr1281 A T 2: 111,328,988 M190L probably benign Het
Pcdhb14 T A 18: 37,448,018 L59* probably null Het
Pias4 A G 10: 81,163,787 L144P probably damaging Het
Plxna2 T A 1: 194,751,438 N598K probably benign Het
Polq A G 16: 37,041,768 Y550C probably damaging Het
Pot1b T A 17: 55,695,024 probably benign Het
Proz T C 8: 13,065,260 V92A probably benign Het
Rab4a T C 8: 123,823,822 F14L probably benign Het
Riok3 T A 18: 12,143,016 C256* probably null Het
Slc6a1 T A 6: 114,302,490 probably benign Het
Socs5 C T 17: 87,134,991 T453M probably damaging Het
Spata3 T C 1: 86,024,489 L135P probably damaging Het
Spata46 A G 1: 170,311,965 K178E probably damaging Het
Spr T C 6: 85,137,448 N100D probably damaging Het
Srrm4 C T 5: 116,444,565 probably benign Het
Stard3 T C 11: 98,376,563 F169S possibly damaging Het
Tbx1 T A 16: 18,584,097 D222V probably damaging Het
Trbv23 C T 6: 41,216,345 Q56* probably null Het
Tsc22d1 A G 14: 76,417,398 N357S possibly damaging Het
Ugt1a6a C T 1: 88,139,089 P206S probably benign Het
Utp20 A G 10: 88,764,795 V19A probably damaging Het
Vps13b A G 15: 35,646,301 N1517S probably benign Het
Washc2 T C 6: 116,241,610 I672T probably damaging Het
Other mutations in Chrna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Chrna1 APN 2 73570642 missense probably benign
IGL02043:Chrna1 APN 2 73568106 missense probably benign 0.00
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 On2015-04-16