Incidental Mutation 'R8075:Chrna4'
ID 628954
Institutional Source Beutler Lab
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
MMRRC Submission 067509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R8075 (G1)
Quality Score 138.008
Status Not validated
Chromosome 2
Chromosomal Location 180664104-180685339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 180680859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 3 (I3S)
Ref Sequence ENSEMBL: ENSMUSP00000066338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067120] [ENSMUST00000108851] [ENSMUST00000124400]
AlphaFold O70174
Predicted Effect unknown
Transcript: ENSMUST00000067120
AA Change: I3S
SMART Domains Protein: ENSMUSP00000066338
Gene: ENSMUSG00000027577
AA Change: I3S

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 unknown
Transcript: ENSMUST00000108851
AA Change: I3S
SMART Domains Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577
AA Change: I3S

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.6%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,790,148 (GRCm39) H69Q probably benign Het
Aif1 T A 17: 35,390,811 (GRCm39) N87Y unknown Het
Caprin2 A T 6: 148,770,590 (GRCm39) V468E probably benign Het
Cep68 A T 11: 20,189,335 (GRCm39) V559D probably benign Het
Cog3 T C 14: 75,968,142 (GRCm39) Y407C probably damaging Het
Col15a1 A G 4: 47,208,359 (GRCm39) H3R probably benign Het
Ctxn1 A G 8: 4,308,553 (GRCm39) V26A probably benign Het
Cyp27b1 A C 10: 126,887,382 (GRCm39) T405P probably damaging Het
Cyp2c65 A G 19: 39,060,682 (GRCm39) I181V probably benign Het
Dusp6 T A 10: 99,100,810 (GRCm39) S269T possibly damaging Het
Efcab6 A T 15: 83,851,824 (GRCm39) D351E probably damaging Het
Fam181a A T 12: 103,282,296 (GRCm39) H67L possibly damaging Het
Fbxl18 A G 5: 142,871,861 (GRCm39) L458P probably damaging Het
Flnb T C 14: 7,913,048 (GRCm38) I1439T probably benign Het
Foxj2 C T 6: 122,815,055 (GRCm39) Q364* probably null Het
Gm3138 A T 14: 4,250,532 (GRCm38) N55Y probably damaging Het
Hmcn2 A G 2: 31,279,403 (GRCm39) T1802A possibly damaging Het
Hoxc6 T C 15: 102,919,325 (GRCm39) I187T probably damaging Het
Ighg3 T A 12: 113,321,097 (GRCm39) I387F Het
Insr A T 8: 3,205,862 (GRCm39) M1309K probably benign Het
Itsn1 A T 16: 91,686,097 (GRCm39) N1290I unknown Het
Jag2 C A 12: 112,878,894 (GRCm39) R509L probably benign Het
Kctd11 T A 11: 69,771,095 (GRCm39) probably benign Het
Med13 C A 11: 86,163,296 (GRCm39) V2126F probably damaging Het
Mknk2 G A 10: 80,507,982 (GRCm39) probably benign Het
Oga A T 19: 45,749,621 (GRCm39) N699K probably damaging Het
Or52l1 T G 7: 104,830,343 (GRCm39) H74P probably damaging Het
Or5m13b A G 2: 85,754,470 (GRCm39) N286S probably benign Het
Pdzrn4 T C 15: 92,575,605 (GRCm39) V337A probably damaging Het
Pik3c3 A G 18: 30,438,082 (GRCm39) N491D probably damaging Het
Pla2g12b T A 10: 59,257,274 (GRCm39) S96T unknown Het
Rab37 G T 11: 114,982,759 (GRCm39) probably null Het
Rp9 G A 9: 22,368,788 (GRCm39) T57M probably damaging Het
Rrp12 A G 19: 41,851,713 (GRCm39) V1274A probably damaging Het
Serpinb11 G A 1: 107,298,519 (GRCm39) V57M probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc39a14 A T 14: 70,546,247 (GRCm39) I392N possibly damaging Het
Sowahb G A 5: 93,192,276 (GRCm39) Q148* probably null Het
Spon1 T C 7: 113,616,026 (GRCm39) probably null Het
Susd4 C A 1: 182,592,748 (GRCm39) T48K possibly damaging Het
Taf4b T C 18: 14,916,749 (GRCm39) V33A possibly damaging Het
Tas2r139 T A 6: 42,118,154 (GRCm39) N95K probably benign Het
Tle3 T C 9: 61,281,841 (GRCm39) M57T probably benign Het
Usp13 T A 3: 32,985,852 (GRCm39) M815K probably damaging Het
Vps8 A G 16: 21,340,644 (GRCm39) D796G probably damaging Het
Wnk1 C T 6: 119,909,675 (GRCm39) G41S probably damaging Het
Zfp867 A G 11: 59,355,066 (GRCm39) S88P probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGAGTCTCTGTGGCTATCC -3'
(R):5'- CGAGATGACTGGAATGACCAC -3'

Sequencing Primer
(F):5'- GTGGCTATCCCGTTGCTCG -3'
(R):5'- ACTGGAATGACCACGGAGTCC -3'
Posted On 2020-06-30