Incidental Mutation 'IGL03268:Chrna2'
ID 415179
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 # IGL03268
Quality Score
Status
Chromosome 14
Chromosomal Location 66372488-66390397 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 66388395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022620] [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000111121] [ENSMUST00000206455] [ENSMUST00000178730]
AlphaFold Q91X60
Predicted Effect probably benign
Transcript: ENSMUST00000022620
SMART Domains Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041

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 benign
Transcript: ENSMUST00000206455
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,818,648 (GRCm39) probably benign Het
Acvrl1 A T 15: 101,033,803 (GRCm39) I162F possibly damaging Het
Adprhl1 A G 8: 13,296,170 (GRCm39) probably benign Het
Anapc7 G A 5: 122,567,669 (GRCm39) probably null Het
Ankrd13a T C 5: 114,930,296 (GRCm39) L227P probably damaging Het
Anxa5 T C 3: 36,504,828 (GRCm39) I245V probably benign Het
Arf1 A T 11: 59,103,663 (GRCm39) V123E possibly damaging Het
Catsperg1 G A 7: 28,899,668 (GRCm39) R338C probably damaging Het
Cc2d1a A C 8: 84,860,154 (GRCm39) L855R probably damaging Het
Cdh18 G A 15: 23,366,953 (GRCm39) A220T probably damaging Het
Cep350 T C 1: 155,829,295 (GRCm39) H203R probably benign Het
Cep78 G T 19: 15,951,806 (GRCm39) S333* probably null Het
Dact1 T C 12: 71,364,257 (GRCm39) V346A probably damaging Het
Dcn A G 10: 97,319,240 (GRCm39) I6V probably benign Het
Dlg3 A G X: 99,853,493 (GRCm39) Y600C probably damaging Het
Dmd A G X: 82,849,814 (GRCm39) E1084G probably damaging Het
Epb41 A C 4: 131,655,806 (GRCm39) D825E probably damaging Het
Galc T A 12: 98,188,852 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,648,261 (GRCm39) D675V probably damaging Het
Igkv2-137 A G 6: 67,533,092 (GRCm39) D85G probably benign Het
Kxd1 A G 8: 70,961,136 (GRCm39) I78T probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lama2 A T 10: 27,298,649 (GRCm39) I149N probably damaging Het
Mbnl2 G T 14: 120,616,569 (GRCm39) C61F probably damaging Het
Mcts1 T C X: 37,690,859 (GRCm39) I22T possibly damaging Het
Or4k15b T C 14: 50,272,024 (GRCm39) T279A probably damaging Het
Or52e3 T G 7: 102,869,848 (GRCm39) F308V probably benign Het
Pde12 T A 14: 26,389,614 (GRCm39) E365V probably benign Het
Prl8a2 A G 13: 27,537,938 (GRCm39) K204R probably benign Het
Rnf25 A T 1: 74,638,217 (GRCm39) probably benign Het
Rragb A G X: 151,923,493 (GRCm39) D5G unknown Het
Rsrc2 T A 5: 123,878,790 (GRCm39) K56* probably null Het
Scn5a T C 9: 119,350,297 (GRCm39) Q859R probably damaging Het
Septin4 G A 11: 87,480,529 (GRCm39) V388M probably damaging Het
Slc29a2 C T 19: 5,074,531 (GRCm39) probably benign Het
Slc30a5 G A 13: 100,943,211 (GRCm39) T549I probably damaging Het
Slc7a2 A G 8: 41,365,554 (GRCm39) T462A probably benign Het
Spsb2 A G 6: 124,786,450 (GRCm39) E61G probably damaging Het
Srr A G 11: 74,803,943 (GRCm39) Y5H probably benign Het
Suclg2 T C 6: 95,546,573 (GRCm39) D301G probably damaging Het
Syt14 A G 1: 192,669,142 (GRCm39) V37A probably benign Het
Syt9 A G 7: 107,035,612 (GRCm39) N210D probably benign Het
Tenm3 T C 8: 48,688,558 (GRCm39) D2343G probably damaging Het
Tma7 A G 9: 108,907,450 (GRCm39) probably benign Het
Tor3a T C 1: 156,497,020 (GRCm39) D175G probably damaging Het
Tpo G T 12: 30,144,964 (GRCm39) A595D possibly damaging Het
Tpst2 T C 5: 112,456,091 (GRCm39) V210A probably damaging Het
Uchl1 A T 5: 66,839,824 (GRCm39) E122V probably benign Het
Vmn1r210 A T 13: 23,011,405 (GRCm39) F294I probably benign 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
IGL03344:Chrna2 APN 14 66,388,415 (GRCm39) missense probably damaging 0.99
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