Incidental Mutation 'IGL00815:Chrna4'
ID 9700
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 # IGL00815
Quality Score
Status
Chromosome 2
Chromosomal Location 180664104-180685339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180671184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 191 (I191V)
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: I191V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000066338
Gene: ENSMUSG00000027577
AA Change: I191V

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: I191V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577
AA Change: I191V

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A G 2: 120,981,699 (GRCm39) probably benign Het
Arhgap20 A G 9: 51,760,713 (GRCm39) N819D probably benign Het
Cenpe A G 3: 134,965,112 (GRCm39) I2061V probably benign Het
Crim1 A G 17: 78,677,520 (GRCm39) E907G probably damaging Het
Cyp2d9 T A 15: 82,340,576 (GRCm39) D175E possibly damaging Het
Eml4 A G 17: 83,758,219 (GRCm39) probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fam3c A T 6: 22,318,947 (GRCm39) D151E probably damaging Het
Far1 G A 7: 113,139,896 (GRCm39) V115I probably benign Het
Gfap T C 11: 102,779,516 (GRCm39) D427G possibly damaging Het
Hdac5 A G 11: 102,088,168 (GRCm39) F934S probably damaging Het
Hyou1 A G 9: 44,296,443 (GRCm39) E456G probably benign Het
Kl G A 5: 150,904,315 (GRCm39) E356K possibly damaging Het
Morc1 T C 16: 48,281,055 (GRCm39) I198T possibly damaging Het
Mroh9 C T 1: 162,866,700 (GRCm39) V679M probably damaging Het
Pigr T A 1: 130,762,167 (GRCm39) M1K probably null Het
Pkn3 C A 2: 29,971,212 (GRCm39) P260T possibly damaging Het
Pld5 T G 1: 175,967,585 (GRCm39) D28A probably damaging Het
Plekhg2 G A 7: 28,060,294 (GRCm39) Q1012* probably null Het
Ppp1ca A G 19: 4,243,143 (GRCm39) I104V probably benign Het
Rad21l A G 2: 151,509,909 (GRCm39) V64A probably damaging Het
Rbm20 A G 19: 53,803,948 (GRCm39) D427G probably damaging Het
Rev3l A G 10: 39,735,149 (GRCm39) I2792V possibly damaging Het
Sec23a C T 12: 59,039,068 (GRCm39) C248Y possibly damaging Het
Sf3b1 A T 1: 55,036,090 (GRCm39) probably benign Het
Slc30a1 A G 1: 191,641,191 (GRCm39) N279S probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Spic T C 10: 88,511,729 (GRCm39) N176D probably damaging Het
Tlk2 C T 11: 105,137,621 (GRCm39) Q184* probably null Het
Tpm4 T C 8: 72,897,347 (GRCm39) I107T probably benign Het
Ttll11 A T 2: 35,792,732 (GRCm39) C186* probably null Het
Txlnb A T 10: 17,718,711 (GRCm39) H514L probably damaging Het
Zfpm2 T A 15: 40,962,887 (GRCm39) M183K probably benign Het
Other mutations in Chrna4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02517:Chrna4 APN 2 180,670,926 (GRCm39) missense probably benign 0.01
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 2012-12-06