Incidental Mutation 'IGL03344:Chrna2'
ID 417371
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna2
Ensembl Gene ENSMUSG00000022041
Gene Name cholinergic receptor nicotinic alpha 2 subunit
Synonyms Acra-2, Acra2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03344
Quality Score
Status
Chromosome 14
Chromosomal Location 66372488-66390397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66388415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 477 (K477E)
Ref Sequence ENSEMBL: ENSMUSP00000145896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022620] [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000111121] [ENSMUST00000206455] [ENSMUST00000178730]
AlphaFold Q91X60
Predicted Effect probably damaging
Transcript: ENSMUST00000022620
AA Change: K477E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041
AA Change: K477E

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 36 242 2.2e-81 PFAM
Pfam:Neur_chan_memb 249 503 5e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022622
SMART Domains Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 870 1008 1.7e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089250
SMART Domains Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 828 966 2e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111121
SMART Domains Protein: ENSMUSP00000106750
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 866 1004 1.1e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136216
Predicted Effect probably benign
Transcript: ENSMUST00000154865
SMART Domains Protein: ENSMUSP00000122683
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 83 8.5e-27 PFAM
low complexity region 117 130 N/A INTRINSIC
Pfam:Focal_AT 243 375 5e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206455
AA Change: K477E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000178730
SMART Domains Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 870 1002 2.1e-55 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,975,005 (GRCm39) I26N probably damaging Het
Atxn7l1 A G 12: 33,376,065 (GRCm39) N47D probably damaging Het
Cer1 A T 4: 82,803,062 (GRCm39) W87R probably damaging Het
Chtf8 G A 8: 107,612,904 (GRCm39) P12S probably damaging Het
Cplane1 C A 15: 8,216,942 (GRCm39) P720Q possibly damaging Het
Deaf1 A T 7: 140,877,461 (GRCm39) H555Q probably benign Het
Dop1a T G 9: 86,418,197 (GRCm39) I1975M probably damaging Het
Ecpas A C 4: 58,828,538 (GRCm39) V965G probably damaging Het
Fsd2 C A 7: 81,209,657 (GRCm39) V62L probably benign Het
Fxyd6 T G 9: 45,303,548 (GRCm39) L81R probably benign Het
Htt T A 5: 35,064,810 (GRCm39) S3008T probably benign Het
Htt T A 5: 35,037,172 (GRCm39) S2086T probably benign Het
Mybbp1a G T 11: 72,336,028 (GRCm39) R447L probably damaging Het
Nup210 A G 6: 90,998,411 (GRCm39) V792A possibly damaging Het
Odad2 C A 18: 7,129,434 (GRCm39) G915* probably null Het
Odr4 T C 1: 150,239,295 (GRCm39) E386G probably damaging Het
Or1e32 T A 11: 73,705,003 (GRCm39) I302L probably benign Het
Or1j14 T C 2: 36,418,140 (GRCm39) S239P probably damaging Het
Prokr1 T C 6: 87,565,482 (GRCm39) D121G possibly damaging Het
Puf60 A G 15: 75,942,229 (GRCm39) V548A possibly damaging Het
Serpina3c T C 12: 104,113,523 (GRCm39) I408V probably benign Het
Ska2 A G 11: 87,000,139 (GRCm39) probably benign Het
Slc4a9 T A 18: 36,668,654 (GRCm39) Y745N probably damaging Het
Spart T C 3: 55,029,106 (GRCm39) M299T probably benign Het
Speer4f1 A G 5: 17,685,332 (GRCm39) E209G possibly damaging Het
Tmem202 T C 9: 59,426,351 (GRCm39) T272A possibly damaging Het
Vegfc T A 8: 54,610,186 (GRCm39) I114N possibly damaging Het
Vmn1r61 T A 7: 5,613,493 (GRCm39) T274S possibly damaging Het
Zfpm2 A G 15: 40,966,170 (GRCm39) N753S probably benign Het
Zmym6 A G 4: 127,014,314 (GRCm39) T624A probably damaging Het
Other mutations in Chrna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02738:Chrna2 APN 14 66,386,889 (GRCm39) missense probably benign 0.01
IGL03172:Chrna2 APN 14 66,379,688 (GRCm39) missense probably benign
IGL03268:Chrna2 APN 14 66,388,395 (GRCm39) splice site probably benign
intrepid UTSW 14 66,383,902 (GRCm39) missense probably damaging 1.00
PIT1430001:Chrna2 UTSW 14 66,387,186 (GRCm39) missense probably benign 0.01
R0511:Chrna2 UTSW 14 66,386,553 (GRCm39) missense probably damaging 1.00
R0631:Chrna2 UTSW 14 66,386,757 (GRCm39) missense probably benign 0.45
R1205:Chrna2 UTSW 14 66,380,812 (GRCm39) missense probably benign 0.00
R1485:Chrna2 UTSW 14 66,380,812 (GRCm39) missense probably benign 0.00
R1487:Chrna2 UTSW 14 66,380,812 (GRCm39) missense probably benign 0.00
R1513:Chrna2 UTSW 14 66,380,878 (GRCm39) missense probably benign 0.13
R2023:Chrna2 UTSW 14 66,379,677 (GRCm39) missense probably benign 0.25
R2094:Chrna2 UTSW 14 66,386,912 (GRCm39) missense possibly damaging 0.65
R2964:Chrna2 UTSW 14 66,386,817 (GRCm39) missense possibly damaging 0.82
R2966:Chrna2 UTSW 14 66,386,817 (GRCm39) missense possibly damaging 0.82
R3118:Chrna2 UTSW 14 66,388,442 (GRCm39) missense probably damaging 0.98
R3931:Chrna2 UTSW 14 66,387,216 (GRCm39) missense probably benign 0.26
R3979:Chrna2 UTSW 14 66,386,402 (GRCm39) missense probably damaging 1.00
R3983:Chrna2 UTSW 14 66,386,906 (GRCm39) missense probably benign 0.00
R4080:Chrna2 UTSW 14 66,380,873 (GRCm39) nonsense probably null
R4080:Chrna2 UTSW 14 66,380,866 (GRCm39) missense probably benign 0.12
R4508:Chrna2 UTSW 14 66,383,902 (GRCm39) missense probably damaging 1.00
R4661:Chrna2 UTSW 14 66,386,292 (GRCm39) missense probably damaging 1.00
R4726:Chrna2 UTSW 14 66,386,345 (GRCm39) missense possibly damaging 0.85
R5349:Chrna2 UTSW 14 66,380,956 (GRCm39) missense probably damaging 0.99
R5787:Chrna2 UTSW 14 66,386,457 (GRCm39) missense probably benign 0.16
R6967:Chrna2 UTSW 14 66,388,398 (GRCm39) critical splice acceptor site probably null
R7218:Chrna2 UTSW 14 66,381,320 (GRCm39) splice site probably null
R7274:Chrna2 UTSW 14 66,386,675 (GRCm39) missense probably benign 0.03
R7565:Chrna2 UTSW 14 66,388,484 (GRCm39) missense probably benign
R7965:Chrna2 UTSW 14 66,388,525 (GRCm39) makesense probably null
R8337:Chrna2 UTSW 14 66,387,017 (GRCm39) nonsense probably null
R8955:Chrna2 UTSW 14 66,379,681 (GRCm39) missense probably benign 0.43
R9017:Chrna2 UTSW 14 66,386,282 (GRCm39) missense probably benign 0.40
Z1176:Chrna2 UTSW 14 66,386,753 (GRCm39) missense probably damaging 1.00
Z1177:Chrna2 UTSW 14 66,388,476 (GRCm39) missense probably null 1.00
Posted On 2016-08-02