Incidental Mutation 'R5598:Chrna1'
ID 437905
Institutional Source Beutler Lab
Gene Symbol Chrna1
Ensembl Gene ENSMUSG00000027107
Gene Name cholinergic receptor nicotinic alpha 1 subunit
Synonyms Acra, Achr-1
MMRRC Submission 043150-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5598 (G1)
Quality Score 202
Status Not validated
Chromosome 2
Chromosomal Location 73393625-73410682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73397075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 405 (T405S)
Ref Sequence ENSEMBL: ENSMUSP00000028515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028515]
AlphaFold P04756
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: T405S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000028515
Gene: ENSMUSG00000027107
AA Change: T405S

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp T C 2: 168,025,645 (GRCm39) D550G probably damaging Het
Ano6 A G 15: 95,839,228 (GRCm39) T457A probably damaging Het
Ano8 A G 8: 71,935,221 (GRCm39) V359A probably damaging Het
Aqp2 G T 15: 99,476,993 (GRCm39) probably benign Het
Atp13a5 C T 16: 29,075,829 (GRCm39) probably benign Het
Carmil3 ACCCCC ACCCCCCCCCCCC 14: 55,741,456 (GRCm39) probably null Het
Ccr1l1 A G 9: 123,778,030 (GRCm39) V139A probably benign Het
Cecr2 A G 6: 120,708,407 (GRCm39) probably null Het
Celsr2 A G 3: 108,310,119 (GRCm39) V1537A possibly damaging Het
Chd6 T A 2: 160,856,032 (GRCm39) K741N probably damaging Het
Cish T C 9: 107,174,227 (GRCm39) V5A possibly damaging Het
Cmss1 C A 16: 57,131,649 (GRCm39) C159F probably damaging Het
Col1a2 A G 6: 4,516,916 (GRCm39) probably benign Het
Cradd G T 10: 95,011,666 (GRCm39) S158* probably null Het
Dmxl1 G A 18: 49,997,545 (GRCm39) A578T probably benign Het
Drd2 A G 9: 49,318,315 (GRCm39) N419S possibly damaging Het
E4f1 T C 17: 24,666,103 (GRCm39) T232A probably damaging Het
Fat2 T A 11: 55,171,956 (GRCm39) E2919V probably damaging Het
Gc T C 5: 89,586,309 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hsd11b2 G A 8: 106,249,143 (GRCm39) V173I probably benign Het
Kdm6b C T 11: 69,296,900 (GRCm39) A456T probably damaging Het
Kif18b G A 11: 102,799,015 (GRCm39) P729S possibly damaging Het
Lgi1 A G 19: 38,294,629 (GRCm39) D467G possibly damaging Het
Loxl1 A G 9: 58,219,650 (GRCm39) Y174H possibly damaging Het
Mtus1 A T 8: 41,475,592 (GRCm39) I824N probably damaging Het
Myrf C T 19: 10,192,654 (GRCm39) E622K probably benign Het
Ncam1 A G 9: 49,457,051 (GRCm39) Y416H probably damaging Het
Nceh1 A G 3: 27,280,248 (GRCm39) T132A probably benign Het
Nhlrc4 G A 17: 26,162,466 (GRCm39) P94S probably damaging Het
Or2v1 C G 11: 49,025,941 (GRCm39) D307E probably benign Het
Or52s1b A T 7: 102,822,841 (GRCm39) M1K probably null Het
Or8b1 A T 9: 38,399,821 (GRCm39) R165S possibly damaging Het
Pcdhac2 A G 18: 37,277,476 (GRCm39) Y152C probably damaging Het
Pdia3 C A 2: 121,244,611 (GRCm39) T8K possibly damaging Het
Pogz T A 3: 94,771,820 (GRCm39) V304E probably damaging Het
Snrnp200 A G 2: 127,068,007 (GRCm39) S835G possibly damaging Het
Susd4 T C 1: 182,719,635 (GRCm39) S417P probably benign Het
Thsd7b G A 1: 129,523,578 (GRCm39) R127H probably damaging Het
Tmco4 A G 4: 138,781,216 (GRCm39) D460G probably damaging Het
Ttll9 T A 2: 152,826,234 (GRCm39) M148K probably damaging Het
Ubn2 G A 6: 38,467,323 (GRCm39) C677Y probably benign Het
Vmn2r98 T C 17: 19,301,161 (GRCm39) I721T probably benign Het
Wdfy4 C A 14: 32,855,454 (GRCm39) C720F probably damaging Het
Zzef1 G A 11: 72,807,347 (GRCm39) D2742N probably damaging Het
Other mutations in Chrna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Chrna1 APN 2 73,400,986 (GRCm39) missense probably benign
IGL02043:Chrna1 APN 2 73,398,450 (GRCm39) missense probably benign 0.00
IGL02553:Chrna1 APN 2 73,397,206 (GRCm39) missense possibly damaging 0.79
IGL02663:Chrna1 APN 2 73,404,660 (GRCm39) splice site probably benign
IGL02799:Chrna1 APN 2 73,404,985 (GRCm39) splice site probably benign
IGL03369:Chrna1 APN 2 73,400,789 (GRCm39) missense probably benign 0.02
R0113:Chrna1 UTSW 2 73,397,180 (GRCm39) missense possibly damaging 0.88
R0513:Chrna1 UTSW 2 73,398,426 (GRCm39) splice site probably benign
R0540:Chrna1 UTSW 2 73,401,815 (GRCm39) missense probably damaging 1.00
R0561:Chrna1 UTSW 2 73,396,596 (GRCm39) missense possibly damaging 0.84
R1922:Chrna1 UTSW 2 73,398,576 (GRCm39) missense probably damaging 1.00
R5303:Chrna1 UTSW 2 73,396,618 (GRCm39) missense probably benign
R5481:Chrna1 UTSW 2 73,397,270 (GRCm39) missense possibly damaging 0.90
R5931:Chrna1 UTSW 2 73,398,444 (GRCm39) missense probably benign 0.39
R6153:Chrna1 UTSW 2 73,403,653 (GRCm39) missense probably benign 0.02
R6194:Chrna1 UTSW 2 73,400,816 (GRCm39) missense probably benign 0.17
R6301:Chrna1 UTSW 2 73,400,828 (GRCm39) missense possibly damaging 0.92
R6455:Chrna1 UTSW 2 73,397,180 (GRCm39) missense possibly damaging 0.88
R8293:Chrna1 UTSW 2 73,400,850 (GRCm39) missense probably benign
R8344:Chrna1 UTSW 2 73,400,953 (GRCm39) missense probably benign 0.12
X0026:Chrna1 UTSW 2 73,400,955 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GGTCAACCTCCCTGTCACAC -3'
(R):5'- TTTTATCGACACTATCCCAAACATC -3'

Sequencing Primer
(F):5'- AACCTCCCTGTCACACTTATG -3'
(R):5'- GTTTTTCTCCACAATGAAAAGACC -3'
Posted On 2016-10-26