Incidental Mutation 'IGL03344:Chrna2'
ID417371
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna2
Ensembl Gene ENSMUSG00000022041
Gene Namecholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)
SynonymsAcra-2, Acra2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03344
Quality Score
Status
Chromosome14
Chromosomal Location66135039-66152948 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66150966 bp
ZygosityHeterozygous
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] [ENSMUST00000178730] [ENSMUST00000206455]
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 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
Predicted Effect probably damaging
Transcript: ENSMUST00000206455
AA Change: K477E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
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: 79,248,376 I26N probably damaging Het
2410089E03Rik C A 15: 8,187,458 P720Q possibly damaging Het
AI314180 A C 4: 58,828,538 V965G probably damaging Het
Armc4 C A 18: 7,129,434 G915* probably null Het
Atxn7l1 A G 12: 33,326,066 N47D probably damaging Het
BC003331 T C 1: 150,363,544 E386G probably damaging Het
Cer1 A T 4: 82,884,825 W87R probably damaging Het
Chtf8 G A 8: 106,886,272 P12S probably damaging Het
Deaf1 A T 7: 141,297,548 H555Q probably benign Het
Dopey1 T G 9: 86,536,144 I1975M probably damaging Het
Fsd2 C A 7: 81,559,909 V62L probably benign Het
Fxyd6 T G 9: 45,392,250 L81R probably benign Het
Htt T A 5: 34,879,828 S2086T probably benign Het
Htt T A 5: 34,907,466 S3008T probably benign Het
Mybbp1a G T 11: 72,445,202 R447L probably damaging Het
Nup210 A G 6: 91,021,429 V792A possibly damaging Het
Olfr342 T C 2: 36,528,128 S239P probably damaging Het
Olfr392 T A 11: 73,814,177 I302L probably benign Het
Prokr1 T C 6: 87,588,500 D121G possibly damaging Het
Puf60 A G 15: 76,070,380 V548A possibly damaging Het
Serpina3c T C 12: 104,147,264 I408V probably benign Het
Ska2 A G 11: 87,109,313 probably benign Het
Slc4a9 T A 18: 36,535,601 Y745N probably damaging Het
Speer4f1 A G 5: 17,480,334 E209G possibly damaging Het
Spg20 T C 3: 55,121,685 M299T probably benign Het
Tmem202 T C 9: 59,519,068 T272A possibly damaging Het
Vegfc T A 8: 54,157,151 I114N possibly damaging Het
Vmn1r61 T A 7: 5,610,494 T274S possibly damaging Het
Zfpm2 A G 15: 41,102,774 N753S probably benign Het
Zmym6 A G 4: 127,120,521 T624A probably damaging Het
Other mutations in Chrna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02738:Chrna2 APN 14 66149440 missense probably benign 0.01
IGL03172:Chrna2 APN 14 66142239 missense probably benign
IGL03268:Chrna2 APN 14 66150946 splice site probably benign
intrepid UTSW 14 66146453 missense probably damaging 1.00
PIT1430001:Chrna2 UTSW 14 66149737 missense probably benign 0.01
R0511:Chrna2 UTSW 14 66149104 missense probably damaging 1.00
R0631:Chrna2 UTSW 14 66149308 missense probably benign 0.45
R1205:Chrna2 UTSW 14 66143363 missense probably benign 0.00
R1485:Chrna2 UTSW 14 66143363 missense probably benign 0.00
R1487:Chrna2 UTSW 14 66143363 missense probably benign 0.00
R1513:Chrna2 UTSW 14 66143429 missense probably benign 0.13
R2023:Chrna2 UTSW 14 66142228 missense probably benign 0.25
R2094:Chrna2 UTSW 14 66149463 missense possibly damaging 0.65
R2964:Chrna2 UTSW 14 66149368 missense possibly damaging 0.82
R2966:Chrna2 UTSW 14 66149368 missense possibly damaging 0.82
R3118:Chrna2 UTSW 14 66150993 missense probably damaging 0.98
R3931:Chrna2 UTSW 14 66149767 missense probably benign 0.26
R3979:Chrna2 UTSW 14 66148953 missense probably damaging 1.00
R3983:Chrna2 UTSW 14 66149457 missense probably benign 0.00
R4080:Chrna2 UTSW 14 66143417 missense probably benign 0.12
R4080:Chrna2 UTSW 14 66143424 nonsense probably null
R4508:Chrna2 UTSW 14 66146453 missense probably damaging 1.00
R4661:Chrna2 UTSW 14 66148843 missense probably damaging 1.00
R4726:Chrna2 UTSW 14 66148896 missense possibly damaging 0.85
R5349:Chrna2 UTSW 14 66143507 missense probably damaging 0.99
R5787:Chrna2 UTSW 14 66149008 missense probably benign 0.16
R6967:Chrna2 UTSW 14 66150949 critical splice acceptor site probably null
R7218:Chrna2 UTSW 14 66143871 splice site probably null
R7274:Chrna2 UTSW 14 66149226 missense probably benign 0.03
R7565:Chrna2 UTSW 14 66151035 missense probably benign
R7965:Chrna2 UTSW 14 66151076 makesense probably null
R8337:Chrna2 UTSW 14 66149568 nonsense probably null
Z1176:Chrna2 UTSW 14 66149304 missense probably damaging 1.00
Z1177:Chrna2 UTSW 14 66151027 missense probably null 1.00
Posted On2016-08-02