Incidental Mutation 'IGL01511:Chrna4'
ID89211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna4
Ensembl Gene ENSMUSG00000027577
Gene Namecholinergic receptor, nicotinic, alpha polypeptide 4
Synonymsalpha4 nAChR, Acra-4, a4 nicotinic receptor, Acra4, alpha4-nAChR
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL01511
Quality Score
Status
Chromosome2
Chromosomal Location181018380-181043546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 181028668 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 432 (V432I)
Ref Sequence ENSEMBL: ENSMUSP00000104479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067120] [ENSMUST00000108851]
Predicted Effect probably benign
Transcript: ENSMUST00000067120
AA Change: V432I

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000066338
Gene: ENSMUSG00000027577
AA Change: V432I

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Neur_chan_LBD 39 245 1.4e-76 PFAM
Pfam:Neur_chan_memb 252 620 1.9e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108851
AA Change: V432I

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577
AA Change: V432I

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Neur_chan_LBD 39 245 8.4e-79 PFAM
Pfam:Neur_chan_memb 252 620 3.3e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135766
SMART Domains Protein: ENSMUSP00000125724
Gene: ENSMUSG00000027577

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Neur_chan_LBD 39 130 9.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198922
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Nullizygous mice may show reduced chemically-elicited analgesia, susceptibility to seizures, increased anxiety, and altered behavioral responses to nicotine or a new environment. Homozygotes for any of several knock-in alleles exhibit altered nervous system physiology and/or sensitivity to nicotine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,244,310 D216E probably benign Het
Abcc4 C A 14: 118,599,341 L669F probably benign Het
Adam29 C T 8: 55,871,421 G666D probably damaging Het
Adat2 T G 10: 13,560,238 M109R probably null Het
Atf3 T A 1: 191,171,496 T178S probably benign Het
Birc6 T A 17: 74,627,003 Y2522* probably null Het
Ccr8 G A 9: 120,094,625 G269R probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Commd8 A G 5: 72,165,379 V65A probably benign Het
Cyp2j13 A G 4: 96,077,315 F52L possibly damaging Het
Desi1 T A 15: 82,002,588 K45* probably null Het
Dmbt1 T A 7: 131,116,728 M1552K possibly damaging Het
Dna2 G A 10: 62,955,314 M197I possibly damaging Het
Dnah7a A C 1: 53,419,595 L3795V probably damaging Het
Fam221b T C 4: 43,660,135 probably null Het
Fbxw18 A T 9: 109,688,821 S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 Y125C unknown Het
Gcsam T C 16: 45,615,952 Y11H probably damaging Het
Gucy2f G T X: 142,161,734 D410E probably damaging Het
Hdac3 C T 18: 37,952,595 A53T probably benign Het
Lamp2 A G X: 38,431,875 L244P probably damaging Het
Lrrk1 A T 7: 66,265,450 F1630Y possibly damaging Het
M1ap C A 6: 83,028,412 D434E probably benign Het
Mcmbp A G 7: 128,707,164 Y378H probably damaging Het
Mvb12a T A 8: 71,545,302 V120E probably damaging Het
Nbeal2 A C 9: 110,629,234 W2063G probably damaging Het
Neto1 A C 18: 86,395,908 H9P possibly damaging Het
Nmu C T 5: 76,340,821 V126M probably damaging Het
Odf2 T C 2: 29,914,309 probably benign Het
Olfr1387 A G 11: 49,460,216 E179G probably damaging Het
Pdzrn3 T C 6: 101,153,256 H533R possibly damaging Het
Pikfyve G T 1: 65,258,869 E1586* probably null Het
Plcb3 C A 19: 6,955,843 R970L probably damaging Het
Plxna3 A G X: 74,335,308 E686G probably damaging Het
Polrmt T A 10: 79,740,151 Y586F probably benign Het
Ppt1 T A 4: 122,854,425 F225I probably damaging Het
Prcc T G 3: 87,872,241 D162A probably damaging Het
Ripor1 T C 8: 105,619,930 probably benign Het
Rnaseh1 A G 12: 28,659,009 H263R probably damaging Het
Rnf19b T A 4: 129,080,418 S490R probably damaging Het
Slc15a2 T A 16: 36,784,726 T23S probably damaging Het
Slc17a2 T C 13: 23,819,138 probably null Het
Slc35f4 T C 14: 49,298,877 M434V probably benign Het
Slc52a3 C T 2: 152,004,644 T175I probably benign Het
Slc5a2 C T 7: 128,270,622 T409M probably benign Het
Tbc1d24 A G 17: 24,181,918 S108P probably benign Het
Thnsl2 T G 6: 71,139,793 Q125P probably benign Het
Ttc13 T C 8: 124,676,371 D672G probably damaging Het
Ttn G T 2: 76,753,745 H14013N possibly damaging Het
Unc5a T C 13: 55,004,816 F792L probably damaging Het
Vac14 T C 8: 110,712,798 V669A possibly damaging Het
Vmn1r13 A T 6: 57,210,329 M158L probably benign Het
Vmn1r220 A T 13: 23,184,214 V104D probably damaging Het
Wdr78 T C 4: 103,048,361 D741G possibly damaging Het
Zfp738 A T 13: 67,683,401 probably null Het
Zscan5b A C 7: 6,231,422 H149P probably benign Het
Other mutations in Chrna4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Chrna4 APN 2 181029391 missense probably benign 0.09
IGL00914:Chrna4 APN 2 181029031 missense probably damaging 1.00
IGL02517:Chrna4 APN 2 181029133 missense probably benign 0.01
IGL02715:Chrna4 APN 2 181029581 unclassified probably benign
R1168:Chrna4 UTSW 2 181034138 missense possibly damaging 0.61
R1475:Chrna4 UTSW 2 181029379 missense probably benign 0.44
R1572:Chrna4 UTSW 2 181029307 missense possibly damaging 0.95
R4428:Chrna4 UTSW 2 181028620 missense probably damaging 0.99
R4429:Chrna4 UTSW 2 181028620 missense probably damaging 0.99
R4431:Chrna4 UTSW 2 181028620 missense probably damaging 0.99
R4494:Chrna4 UTSW 2 181028488 missense probably damaging 0.98
R4664:Chrna4 UTSW 2 181037493 missense probably damaging 1.00
R4666:Chrna4 UTSW 2 181037493 missense probably damaging 1.00
R4931:Chrna4 UTSW 2 181028872 missense probably benign 0.00
R5144:Chrna4 UTSW 2 181024830 missense probably damaging 1.00
R5556:Chrna4 UTSW 2 181033980 missense possibly damaging 0.94
R5633:Chrna4 UTSW 2 181029460 missense probably damaging 1.00
R5889:Chrna4 UTSW 2 181028658 missense probably damaging 1.00
R6056:Chrna4 UTSW 2 181029442 missense probably damaging 1.00
R6120:Chrna4 UTSW 2 181024806 missense probably damaging 1.00
R7030:Chrna4 UTSW 2 181029541 missense probably damaging 1.00
R7352:Chrna4 UTSW 2 181037474 missense probably damaging 0.97
R7694:Chrna4 UTSW 2 181018593 missense
Posted On2013-12-03