Incidental Mutation 'IGL01503:Chrna5'
ID 88970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna5
Ensembl Gene ENSMUSG00000035594
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 5
Synonyms Acra-5, Acra5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # IGL01503
Quality Score
Status
Chromosome 9
Chromosomal Location 54888164-54915063 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 54905455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093844] [ENSMUST00000213960] [ENSMUST00000217408]
AlphaFold Q2MKA5
Predicted Effect probably benign
Transcript: ENSMUST00000093844
SMART Domains Protein: ENSMUSP00000091365
Gene: ENSMUSG00000035594

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 18 221 4.9e-72 PFAM
Pfam:Neur_chan_memb 228 352 1.9e-51 PFAM
Pfam:Neur_chan_memb 338 417 1.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216865
Predicted Effect probably benign
Transcript: ENSMUST00000217408
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are less sensitive to nicotine-induced seizures than wild-type controls and exhibit a significantly shorter latency time to seizure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 88,971,757 (GRCm39) Y26* probably null Het
Aadacl4fm4 T A 4: 144,401,137 (GRCm39) I116F probably damaging Het
Arpc1a T C 5: 145,032,964 (GRCm39) V91A probably damaging Het
Atp2a1 T A 7: 126,047,750 (GRCm39) I687F probably damaging Het
B3gnt5 A C 16: 19,588,531 (GRCm39) Y250S probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
C1s2 T C 6: 124,602,612 (GRCm39) D527G probably damaging Het
Cltc C A 11: 86,586,526 (GRCm39) probably benign Het
Dgkh T G 14: 78,853,710 (GRCm39) I439L possibly damaging Het
Dnajc16 G A 4: 141,491,008 (GRCm39) T714I possibly damaging Het
Fam13a A T 6: 58,933,065 (GRCm39) I349N probably damaging Het
Fig4 C T 10: 41,132,514 (GRCm39) D431N probably benign Het
Gabra4 A T 5: 71,798,429 (GRCm39) N183K possibly damaging Het
Ggt5 C T 10: 75,445,944 (GRCm39) probably benign Het
Hdac6 A G X: 7,798,418 (GRCm39) L798P probably damaging Het
Hectd4 T C 5: 121,456,714 (GRCm39) V2030A probably benign Het
Hecw2 A G 1: 53,866,120 (GRCm39) Y1514H probably damaging Het
Hmcn1 T C 1: 150,480,823 (GRCm39) D4451G probably benign Het
Krtcap3 T C 5: 31,409,167 (GRCm39) probably benign Het
Ltn1 A T 16: 87,217,695 (GRCm39) probably benign Het
Mapkapk2 T C 1: 130,986,499 (GRCm39) M1V probably null Het
Mical3 A T 6: 120,935,537 (GRCm39) I1663N probably benign Het
Mvp G T 7: 126,601,133 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,324 (GRCm39) I485V probably damaging Het
N4bp2 T A 5: 65,960,890 (GRCm39) C520* probably null Het
Nos2 A G 11: 78,836,689 (GRCm39) probably benign Het
Ogdh G A 11: 6,305,069 (GRCm39) V925M probably damaging Het
Pde2a T A 7: 101,151,143 (GRCm39) probably benign Het
Plpp6 A G 19: 28,942,279 (GRCm39) *293W probably null Het
Pole T A 5: 110,451,750 (GRCm39) I864K probably damaging Het
Rexo4 A T 2: 26,850,645 (GRCm39) I239N probably benign Het
Scn1a T A 2: 66,152,687 (GRCm39) I748F probably damaging Het
Sfmbt2 A T 2: 10,584,165 (GRCm39) R841* probably null Het
Sh3bp5l A G 11: 58,228,827 (GRCm39) N100S probably damaging Het
Spic T A 10: 88,511,623 (GRCm39) D211V probably damaging Het
Stab2 A G 10: 86,776,477 (GRCm39) probably benign Het
Tshr A G 12: 91,478,708 (GRCm39) Y83C probably damaging Het
Vsir A G 10: 60,204,373 (GRCm39) E172G probably damaging Het
Wwp2 T C 8: 108,276,413 (GRCm39) S508P probably damaging Het
Other mutations in Chrna5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Chrna5 APN 9 54,911,683 (GRCm39) missense possibly damaging 0.61
IGL01617:Chrna5 APN 9 54,912,297 (GRCm39) missense probably damaging 0.98
IGL01935:Chrna5 APN 9 54,912,127 (GRCm39) missense probably benign 0.01
IGL02613:Chrna5 APN 9 54,913,705 (GRCm39) missense probably damaging 0.99
IGL03248:Chrna5 APN 9 54,911,923 (GRCm39) missense probably damaging 1.00
IGL03412:Chrna5 APN 9 54,911,719 (GRCm39) missense probably damaging 1.00
R0712:Chrna5 UTSW 9 54,911,647 (GRCm39) missense probably damaging 1.00
R1619:Chrna5 UTSW 9 54,911,649 (GRCm39) missense probably benign 0.00
R1698:Chrna5 UTSW 9 54,911,926 (GRCm39) missense probably damaging 1.00
R1789:Chrna5 UTSW 9 54,911,935 (GRCm39) missense possibly damaging 0.94
R1800:Chrna5 UTSW 9 54,912,159 (GRCm39) missense probably damaging 0.99
R4028:Chrna5 UTSW 9 54,905,370 (GRCm39) missense probably damaging 1.00
R4030:Chrna5 UTSW 9 54,905,370 (GRCm39) missense probably damaging 1.00
R4031:Chrna5 UTSW 9 54,905,370 (GRCm39) missense probably damaging 1.00
R4201:Chrna5 UTSW 9 54,905,359 (GRCm39) missense probably benign 0.00
R4792:Chrna5 UTSW 9 54,911,985 (GRCm39) missense probably damaging 1.00
R5196:Chrna5 UTSW 9 54,913,803 (GRCm39) missense possibly damaging 0.91
R5718:Chrna5 UTSW 9 54,905,389 (GRCm39) missense probably benign 0.00
R5779:Chrna5 UTSW 9 54,905,388 (GRCm39) missense probably benign 0.35
R6254:Chrna5 UTSW 9 54,913,740 (GRCm39) missense probably benign 0.00
R6492:Chrna5 UTSW 9 54,905,347 (GRCm39) missense probably benign 0.11
R6887:Chrna5 UTSW 9 54,912,417 (GRCm39) missense probably benign 0.00
R6986:Chrna5 UTSW 9 54,913,741 (GRCm39) missense possibly damaging 0.83
R7056:Chrna5 UTSW 9 54,888,985 (GRCm39) intron probably benign
R7222:Chrna5 UTSW 9 54,905,347 (GRCm39) missense probably benign 0.11
R7384:Chrna5 UTSW 9 54,912,117 (GRCm39) missense probably damaging 1.00
R7572:Chrna5 UTSW 9 54,913,749 (GRCm39) missense probably damaging 1.00
R7653:Chrna5 UTSW 9 54,909,718 (GRCm39) missense probably benign
R7846:Chrna5 UTSW 9 54,912,391 (GRCm39) missense probably benign 0.38
R8808:Chrna5 UTSW 9 54,905,348 (GRCm39) missense probably benign 0.20
R8901:Chrna5 UTSW 9 54,911,737 (GRCm39) missense probably damaging 1.00
R9303:Chrna5 UTSW 9 54,912,156 (GRCm39) missense probably benign 0.16
R9716:Chrna5 UTSW 9 54,911,919 (GRCm39) missense probably benign 0.00
Z1176:Chrna5 UTSW 9 54,911,766 (GRCm39) missense probably damaging 1.00
Z1177:Chrna5 UTSW 9 54,912,240 (GRCm39) missense possibly damaging 0.55
Posted On 2013-12-03