Incidental Mutation 'IGL02715:Chrna4'
ID 304738
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 # IGL02715
Quality Score
Status
Chromosome 2
Chromosomal Location 180664104-180685339 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 180671374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000067120] [ENSMUST00000108851] [ENSMUST00000124400]
AlphaFold O70174
Predicted Effect probably benign
Transcript: ENSMUST00000067120
SMART Domains Protein: ENSMUSP00000066338
Gene: ENSMUSG00000027577

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
SMART Domains Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,089,714 (GRCm39) I57V probably damaging Het
Abce1 T A 8: 80,416,990 (GRCm39) E340D probably damaging Het
Agbl2 C T 2: 90,636,212 (GRCm39) R583W probably damaging Het
Aig1 A G 10: 13,744,360 (GRCm39) probably null Het
Atpsckmt A G 15: 31,606,149 (GRCm39) T36A probably benign Het
Brd3 C A 2: 27,344,495 (GRCm39) A412S possibly damaging Het
C3 A G 17: 57,511,158 (GRCm39) probably benign Het
Ccdc127 A G 13: 74,504,893 (GRCm39) E147G probably benign Het
Cnn2 T C 10: 79,829,323 (GRCm39) L151P probably damaging Het
Col11a1 G T 3: 113,923,058 (GRCm39) M7I probably benign Het
Cstdc4 T C 16: 36,008,315 (GRCm39) I67T possibly damaging Het
Fastkd1 A G 2: 69,542,469 (GRCm39) probably null Het
Fcho2 A G 13: 98,932,843 (GRCm39) M53T probably damaging Het
Fmnl2 T C 2: 52,962,222 (GRCm39) Y236H possibly damaging Het
G6bos A G 17: 35,284,537 (GRCm39) probably null Het
Gramd1a C T 7: 30,835,279 (GRCm39) G436D probably damaging Het
Hivep2 A G 10: 14,007,131 (GRCm39) Y1243C probably benign Het
Lrit2 A G 14: 36,794,505 (GRCm39) D523G probably benign Het
Lrrc2 A C 9: 110,799,182 (GRCm39) D177A probably damaging Het
Lyst T A 13: 13,848,905 (GRCm39) probably null Het
Mrgpra6 A T 7: 46,838,396 (GRCm39) probably benign Het
Myh6 T C 14: 55,184,365 (GRCm39) probably benign Het
Myzap C A 9: 71,422,397 (GRCm39) E392* probably null Het
Ndst3 G A 3: 123,340,410 (GRCm39) probably benign Het
Nlrc5 C A 8: 95,201,296 (GRCm39) P130H probably damaging Het
Obscn T C 11: 58,971,137 (GRCm39) T2526A probably benign Het
Or1e26 T A 11: 73,479,947 (GRCm39) I206F probably benign Het
Pcnt C A 10: 76,204,556 (GRCm39) probably benign Het
Pfpl T A 19: 12,407,145 (GRCm39) C465* probably null Het
Pkd1l3 T A 8: 110,353,458 (GRCm39) C680S probably damaging Het
Ppp1r10 G T 17: 36,241,604 (GRCm39) G793V unknown Het
Prss27 A T 17: 24,263,953 (GRCm39) D213V possibly damaging Het
Sh2d5 T C 4: 137,984,018 (GRCm39) probably benign Het
Spata31d1a T C 13: 59,851,549 (GRCm39) D193G probably benign Het
Sptan1 T C 2: 29,868,588 (GRCm39) V66A probably benign Het
Synpr T C 14: 13,608,618 (GRCm38) S133P probably damaging Het
Tagln3 T C 16: 45,544,588 (GRCm39) N28D probably benign Het
Tfrc A G 16: 32,443,189 (GRCm39) T494A probably benign Het
Tmem38a T C 8: 73,333,512 (GRCm39) I77T possibly damaging Het
Tmem42 C A 9: 122,851,295 (GRCm39) T86N probably damaging Het
Ttc8 T A 12: 98,910,179 (GRCm39) probably benign Het
Tub G A 7: 108,628,517 (GRCm39) V342I probably benign Het
Vmn2r103 A T 17: 20,014,218 (GRCm39) I337F probably damaging Het
Xkr7 A G 2: 152,896,277 (GRCm39) E377G probably damaging Het
Zfp292 C T 4: 34,819,542 (GRCm39) G260D 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
IGL02517:Chrna4 APN 2 180,670,926 (GRCm39) missense probably benign 0.01
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