Incidental Mutation 'IGL02517:Chrna4'
ID 296837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrna4
Ensembl Gene ENSMUSG00000027577
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 4
Synonyms a4 nicotinic receptor, Acra-4, alpha4-nAChR, Acra4, alpha4 nAChR
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02517
Quality Score
Status
Chromosome 2
Chromosomal Location 180664104-180685339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 180670926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 277 (V277I)
Ref Sequence ENSEMBL: ENSMUSP00000104479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067120] [ENSMUST00000108851] [ENSMUST00000124400]
AlphaFold O70174
Predicted Effect probably benign
Transcript: ENSMUST00000067120
AA Change: V277I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000066338
Gene: ENSMUSG00000027577
AA Change: V277I

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: V277I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577
AA Change: V277I

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 probably benign
Transcript: ENSMUST00000124400
SMART Domains Protein: ENSMUSP00000123043
Gene: ENSMUSG00000027577

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 22 78 3.6e-19 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
Acnat2 T G 4: 49,380,647 (GRCm39) M244L possibly damaging Het
Acnat2 A T 4: 49,380,639 (GRCm39) C228* probably null Het
Adam24 T C 8: 41,133,218 (GRCm39) S229P probably damaging Het
Alpk3 T C 7: 80,727,643 (GRCm39) S258P probably benign Het
Atad2b A G 12: 5,068,037 (GRCm39) T1012A probably benign Het
Bltp1 A G 3: 37,013,017 (GRCm39) E1899G probably damaging Het
C4b A T 17: 34,953,382 (GRCm39) S1034T probably benign Het
Cd300ld2 T A 11: 114,901,249 (GRCm39) H277L possibly damaging Het
Col3a1 A G 1: 45,364,963 (GRCm39) probably null Het
Dpep2 C T 8: 106,715,388 (GRCm39) V369M probably damaging Het
Eml2 T A 7: 18,940,055 (GRCm39) N815K probably damaging Het
Enpp3 A G 10: 24,685,746 (GRCm39) probably benign Het
Git1 T C 11: 77,390,413 (GRCm39) V86A probably benign Het
Hivep2 C T 10: 14,006,926 (GRCm39) P1175S probably benign Het
Hydin T C 8: 111,293,604 (GRCm39) I3517T probably benign Het
Ift172 T A 5: 31,410,992 (GRCm39) probably null Het
Jmy A G 13: 93,589,316 (GRCm39) I647T probably benign Het
Kifap3 T A 1: 163,653,440 (GRCm39) probably benign Het
Lama3 G A 18: 12,670,915 (GRCm39) probably null Het
Lipa A C 19: 34,471,522 (GRCm39) I351S possibly damaging Het
Ltbp2 G T 12: 84,832,091 (GRCm39) A1631D probably benign Het
Masp2 A G 4: 148,698,477 (GRCm39) I519M probably damaging Het
Mfsd6 A G 1: 52,702,436 (GRCm39) probably benign Het
Numa1 T G 7: 101,661,216 (GRCm39) D1846E probably benign Het
Oog3 A T 4: 143,885,920 (GRCm39) I226K probably damaging Het
Or11h6 A G 14: 50,880,658 (GRCm39) T301A probably benign Het
Or5an6 A T 19: 12,372,265 (GRCm39) I213F probably benign Het
Or8b3b T C 9: 38,584,209 (GRCm39) Y177C probably damaging Het
Or8g53 T G 9: 39,683,800 (GRCm39) T99P probably damaging Het
Or9s13 A T 1: 92,548,183 (GRCm39) Y185F probably benign Het
Pkdcc T C 17: 83,531,295 (GRCm39) S435P probably damaging Het
Ppm1g A G 5: 31,365,425 (GRCm39) Y70H probably damaging Het
Prcc C T 3: 87,776,984 (GRCm39) S330N probably damaging Het
Ror2 A T 13: 53,272,876 (GRCm39) L251Q probably damaging Het
Scn11a A G 9: 119,621,464 (GRCm39) L651P probably damaging Het
Skint6 A T 4: 112,805,737 (GRCm39) probably benign Het
Slc23a4 A G 6: 34,931,917 (GRCm39) F186L probably benign Het
Slc30a8 A T 15: 52,198,530 (GRCm39) D325V probably benign Het
Son C T 16: 91,452,099 (GRCm39) T282M possibly damaging Het
Tas2r118 A T 6: 23,969,891 (GRCm39) F57I probably damaging Het
Tcf7l1 A G 6: 72,606,966 (GRCm39) S447P probably benign Het
Thsd1 T A 8: 22,733,454 (GRCm39) V167E probably damaging Het
Tle3 T C 9: 61,322,063 (GRCm39) V696A probably damaging Het
Tmem67 A T 4: 12,069,463 (GRCm39) I405K possibly damaging Het
Tmem71 A C 15: 66,413,466 (GRCm39) V202G probably benign Het
Trim6 T C 7: 103,881,564 (GRCm39) probably benign Het
Trip12 A G 1: 84,721,535 (GRCm39) probably benign Het
Ubr1 A C 2: 120,694,854 (GRCm39) C1693G possibly damaging Het
Ush2a G A 1: 188,648,195 (GRCm39) R4600H probably damaging Het
Vil1 A G 1: 74,465,851 (GRCm39) I547M probably benign Het
Vmn1r219 A T 13: 23,347,266 (GRCm39) I152L probably benign Het
Vmn1r26 A G 6: 57,986,127 (GRCm39) F21L possibly damaging Het
Vmn2r45 T A 7: 8,486,185 (GRCm39) K368* probably null Het
Vmn2r68 C T 7: 84,871,153 (GRCm39) W710* probably null Het
Zfp808 T A 13: 62,321,032 (GRCm39) *754R probably null Het
Zyg11b C T 4: 108,123,515 (GRCm39) E151K probably damaging Het
Other mutations in Chrna4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Chrna4 APN 2 180,671,184 (GRCm39) missense probably benign 0.09
IGL00914:Chrna4 APN 2 180,670,824 (GRCm39) missense probably damaging 1.00
IGL01511:Chrna4 APN 2 180,670,461 (GRCm39) missense probably benign 0.13
IGL02715:Chrna4 APN 2 180,671,374 (GRCm39) unclassified probably benign
R1168:Chrna4 UTSW 2 180,675,931 (GRCm39) missense possibly damaging 0.61
R1475:Chrna4 UTSW 2 180,671,172 (GRCm39) missense probably benign 0.44
R1572:Chrna4 UTSW 2 180,671,100 (GRCm39) missense possibly damaging 0.95
R4428:Chrna4 UTSW 2 180,670,413 (GRCm39) missense probably damaging 0.99
R4429:Chrna4 UTSW 2 180,670,413 (GRCm39) missense probably damaging 0.99
R4431:Chrna4 UTSW 2 180,670,413 (GRCm39) missense probably damaging 0.99
R4494:Chrna4 UTSW 2 180,670,281 (GRCm39) missense probably damaging 0.98
R4664:Chrna4 UTSW 2 180,679,286 (GRCm39) missense probably damaging 1.00
R4666:Chrna4 UTSW 2 180,679,286 (GRCm39) missense probably damaging 1.00
R4931:Chrna4 UTSW 2 180,670,665 (GRCm39) missense probably benign 0.00
R5144:Chrna4 UTSW 2 180,666,623 (GRCm39) missense probably damaging 1.00
R5556:Chrna4 UTSW 2 180,675,773 (GRCm39) missense possibly damaging 0.94
R5633:Chrna4 UTSW 2 180,671,253 (GRCm39) missense probably damaging 1.00
R5889:Chrna4 UTSW 2 180,670,451 (GRCm39) missense probably damaging 1.00
R6056:Chrna4 UTSW 2 180,671,235 (GRCm39) missense probably damaging 1.00
R6120:Chrna4 UTSW 2 180,666,599 (GRCm39) missense probably damaging 1.00
R7030:Chrna4 UTSW 2 180,671,334 (GRCm39) missense probably damaging 1.00
R7352:Chrna4 UTSW 2 180,679,267 (GRCm39) missense probably damaging 0.97
R7694:Chrna4 UTSW 2 180,660,386 (GRCm39) missense
R7945:Chrna4 UTSW 2 180,670,454 (GRCm39) missense probably benign 0.04
R8075:Chrna4 UTSW 2 180,680,859 (GRCm39) missense unknown
R8706:Chrna4 UTSW 2 180,679,307 (GRCm39) missense probably damaging 1.00
R9091:Chrna4 UTSW 2 180,670,643 (GRCm39) missense possibly damaging 0.79
R9138:Chrna4 UTSW 2 180,670,775 (GRCm39) missense probably damaging 0.97
R9154:Chrna4 UTSW 2 180,670,602 (GRCm39) missense probably damaging 0.99
R9270:Chrna4 UTSW 2 180,670,643 (GRCm39) missense possibly damaging 0.79
R9598:Chrna4 UTSW 2 180,679,264 (GRCm39) missense probably damaging 1.00
Z1177:Chrna4 UTSW 2 180,670,078 (GRCm39) missense possibly damaging 0.80
Z1177:Chrna4 UTSW 2 180,666,606 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16