Incidental Mutation 'IGL02484:Chrna3'
ID295373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna3
Ensembl Gene ENSMUSG00000032303
Gene Namecholinergic receptor, nicotinic, alpha polypeptide 3
SynonymsA730007P14Rik, Acra3, neuronal nicotinic acetylcholine receptor, alpha 3 subunit, alpha 3, (a)3, Acra-3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.319) question?
Stock #IGL02484
Quality Score
Status
Chromosome9
Chromosomal Location55010111-55026562 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55015537 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 329 (Y329C)
Ref Sequence ENSEMBL: ENSMUSP00000150636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034851] [ENSMUST00000214204]
Predicted Effect probably damaging
Transcript: ENSMUST00000034851
AA Change: Y329C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034851
Gene: ENSMUSG00000032303
AA Change: Y329C

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Neur_chan_LBD 34 240 6.1e-77 PFAM
Pfam:Neur_chan_memb 247 494 7.5e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214204
AA Change: Y329C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation show high postnatal and postweaning mortality. Mutants show reduced bladder contractility resulting in enlarged bladder, infections and urinary stones. Eyes are small, with dilated ocular pupils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,563,352 noncoding transcript Het
Araf A G X: 20,853,909 probably benign Het
Arrb2 T A 11: 70,439,474 V308E probably damaging Het
Asap3 A G 4: 136,229,457 probably benign Het
Astn2 G A 4: 65,992,279 probably benign Het
Cactin T A 10: 81,322,974 I258N probably benign Het
Catsperg1 T C 7: 29,210,920 probably benign Het
Ccna1 C T 3: 55,048,494 D146N probably benign Het
Ctps2 G A X: 162,910,009 G56D probably damaging Het
Cyp4b1 T C 4: 115,647,557 D44G probably benign Het
D3Ertd751e A G 3: 41,753,720 probably null Het
Daxx T C 17: 33,912,242 V381A probably damaging Het
Dhx37 T A 5: 125,419,337 I714F possibly damaging Het
Dnah7b T C 1: 46,195,318 V1470A probably damaging Het
Efl1 T C 7: 82,683,039 I297T probably damaging Het
Fam26f T C 10: 34,126,404 T228A probably benign Het
Fnd3c2 A T X: 106,245,486 H442Q probably damaging Het
Glp2r A C 11: 67,740,166 V126G possibly damaging Het
Gm5699 G T 1: 30,998,762 noncoding transcript Het
Gpt2 A G 8: 85,516,233 D298G probably damaging Het
Gse1 G T 8: 120,575,262 probably benign Het
Hand1 T C 11: 57,831,594 T65A probably benign Het
Ints8 G A 4: 11,208,834 Q955* probably null Het
Lrguk C T 6: 34,092,791 P534S probably damaging Het
Lrp6 A G 6: 134,541,923 F60L probably benign Het
Mamld1 T C X: 71,118,652 I423T possibly damaging Het
Mrpl22 G A 11: 58,173,062 S36N possibly damaging Het
Mug2 A G 6: 122,072,753 E915G probably damaging Het
Olfr1442 T C 19: 12,674,859 F218S possibly damaging Het
Olfr493 C T 7: 108,346,606 R125Q probably damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pde4c T A 8: 70,748,052 probably benign Het
Pdxdc1 T C 16: 13,876,081 E159G possibly damaging Het
Poln T C 5: 34,129,377 E149G probably damaging Het
Pou5f2 T G 13: 78,025,905 L322R probably damaging Het
Ppm1k A T 6: 57,525,012 S55R possibly damaging Het
Ptges2 T A 2: 32,397,707 I149N probably damaging Het
Pus7l A G 15: 94,529,488 V471A possibly damaging Het
Raet1e A T 10: 22,180,767 M81L probably benign Het
Sipa1l3 A G 7: 29,399,531 S438P probably damaging Het
Skint5 T A 4: 113,942,553 K126* probably null Het
Stfa2 T C 16: 36,405,207 T37A probably damaging Het
Ttll12 A G 15: 83,581,696 I433T possibly damaging Het
Vmn2r32 C T 7: 7,464,117 G804D probably damaging Het
Zc3h14 A G 12: 98,774,301 T84A probably benign Het
Other mutations in Chrna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02469:Chrna3 APN 9 55016006 missense probably benign 0.01
R0494:Chrna3 UTSW 9 55022278 missense probably damaging 1.00
R0538:Chrna3 UTSW 9 55016006 missense probably benign 0.01
R0557:Chrna3 UTSW 9 55015865 missense probably damaging 1.00
R0674:Chrna3 UTSW 9 55015172 missense probably damaging 1.00
R1552:Chrna3 UTSW 9 55015908 missense probably benign 0.16
R1750:Chrna3 UTSW 9 55016057 missense probably damaging 1.00
R2191:Chrna3 UTSW 9 55016045 missense probably damaging 1.00
R2989:Chrna3 UTSW 9 55016050 missense probably damaging 1.00
R3114:Chrna3 UTSW 9 55016050 missense probably damaging 1.00
R3153:Chrna3 UTSW 9 55016050 missense probably damaging 1.00
R3154:Chrna3 UTSW 9 55016050 missense probably damaging 1.00
R3434:Chrna3 UTSW 9 55024326 missense possibly damaging 0.95
R3732:Chrna3 UTSW 9 55015894 missense probably benign 0.00
R3732:Chrna3 UTSW 9 55015894 missense probably benign 0.00
R3733:Chrna3 UTSW 9 55015894 missense probably benign 0.00
R4758:Chrna3 UTSW 9 55022276 missense probably damaging 1.00
R4903:Chrna3 UTSW 9 55015526 missense probably benign 0.01
R5430:Chrna3 UTSW 9 55012908 missense probably damaging 0.98
R5795:Chrna3 UTSW 9 55015268 missense probably benign 0.17
R6546:Chrna3 UTSW 9 55015901 missense probably damaging 1.00
R6806:Chrna3 UTSW 9 55015810 missense probably damaging 1.00
Posted On2015-04-16