Incidental Mutation 'R5144:Chrna4'
ID 395041
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 042728-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R5144 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 180664104-180685339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180666623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 605 (L605P)
Ref Sequence ENSEMBL: ENSMUSP00000104479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067120] [ENSMUST00000108851]
AlphaFold O70174
Predicted Effect probably damaging
Transcript: ENSMUST00000067120
AA Change: L605P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066338
Gene: ENSMUSG00000027577
AA Change: L605P

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 damaging
Transcript: ENSMUST00000108851
AA Change: L605P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577
AA Change: L605P

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 unknown
Transcript: ENSMUST00000198922
AA Change: L60P
Meta Mutation Damage Score 0.9615 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 96% (47/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik T A 2: 68,446,604 (GRCm39) probably benign Het
Arpc2 A T 1: 74,287,367 (GRCm39) K62N probably damaging Het
B4galt5 C T 2: 167,148,516 (GRCm39) E201K possibly damaging Het
Bub1b C T 2: 118,445,980 (GRCm39) T334M possibly damaging Het
Ccdc71 T C 9: 108,341,051 (GRCm39) V288A probably benign Het
Cep350 G A 1: 155,786,896 (GRCm39) R1444W probably damaging Het
Col6a5 T A 9: 105,766,482 (GRCm39) I1813F probably damaging Het
Col9a1 A G 1: 24,278,434 (GRCm39) I821V probably benign Het
D430041D05Rik T C 2: 104,088,847 (GRCm39) D43G probably damaging Het
Depdc7 T C 2: 104,560,598 (GRCm39) Y132C probably damaging Het
Dppa2 T C 16: 48,137,666 (GRCm39) V216A probably damaging Het
Ect2l A T 10: 18,020,325 (GRCm39) N598K probably benign Het
Eif3c T C 7: 126,162,238 (GRCm39) T195A probably benign Het
Epg5 T C 18: 78,058,895 (GRCm39) V1883A probably damaging Het
Ino80c T A 18: 24,241,935 (GRCm39) D150V probably benign Het
Kcnb1 T A 2: 166,947,864 (GRCm39) Y328F probably damaging Het
Kcnj3 G A 2: 55,337,059 (GRCm39) probably null Het
Ncor1 T G 11: 62,240,290 (GRCm39) S894R probably damaging Het
Nlgn3 G A X: 100,361,891 (GRCm39) V287I probably benign Het
Nod2 T C 8: 89,379,694 (GRCm39) V72A probably damaging Het
Nudt19 T C 7: 35,254,650 (GRCm39) T194A probably benign Het
Or1j4 A T 2: 36,740,156 (GRCm39) T33S probably benign Het
Or8b53 C T 9: 38,667,689 (GRCm39) S235L possibly damaging Het
Pappa2 T A 1: 158,784,703 (GRCm39) R102S probably benign Het
Pik3c2a T C 7: 115,950,021 (GRCm39) N1332S probably benign Het
Plppr1 T A 4: 49,319,800 (GRCm39) V142E possibly damaging Het
Prdm6 C A 18: 53,598,110 (GRCm39) probably benign Het
Prm2 T A 16: 10,609,732 (GRCm39) probably benign Het
Prmt3 T C 7: 49,435,883 (GRCm39) S155P possibly damaging Het
Rars2 T C 4: 34,656,793 (GRCm39) Y481H probably benign Het
Rgs2 G A 1: 143,877,437 (GRCm39) T206M probably benign Het
Slc2a8 C T 2: 32,871,785 (GRCm39) R56H probably damaging Het
Spmip11 C A 15: 98,483,148 (GRCm39) probably null Het
Stk35 T A 2: 129,652,855 (GRCm39) M452K probably damaging Het
Tcf3 G A 10: 80,251,071 (GRCm39) H454Y probably damaging Het
Tgm3 C T 2: 129,890,202 (GRCm39) S655F possibly damaging Het
Tssc4 T G 7: 142,623,770 (GRCm39) L26R probably damaging Het
Utp11 A T 4: 124,572,695 (GRCm39) probably benign Het
Vmn1r237 C G 17: 21,534,688 (GRCm39) A137G possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vps8 T C 16: 21,378,103 (GRCm39) L1038P probably damaging Het
Wipf3 C T 6: 54,462,660 (GRCm39) A290V probably damaging Het
Zdhhc25 T G 15: 88,485,259 (GRCm39) L198R probably damaging Het
Zdhhc6 A T 19: 55,302,998 (GRCm39) M1K probably null 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
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
Predicted Primers PCR Primer
(F):5'- GACTAGAACCAGGGTCAACC -3'
(R):5'- CAGATTCTCTGGCCATGCTCTG -3'

Sequencing Primer
(F):5'- GTCAACCAGGGCAGCATCTC -3'
(R):5'- TGTCTCACCACATCAGTGTACAGATG -3'
Posted On 2016-06-21