Incidental Mutation 'R6120:Chrna4'
ID 485698
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 044268-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R6120 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 180664104-180685339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180666599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 613 (L613P)
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: L613P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066338
Gene: ENSMUSG00000027577
AA Change: L613P

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: L613P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577
AA Change: L613P

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: L68P
Meta Mutation Damage Score 0.9110 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.6%
Validation Efficiency 98% (55/56)
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
4921524L21Rik T A 18: 6,638,795 (GRCm39) V398E possibly damaging Het
Ankef1 A G 2: 136,392,296 (GRCm39) N495S probably benign Het
Bpifb3 G T 2: 153,773,363 (GRCm39) V428L probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,230,785 (GRCm39) L362S probably benign Het
Ccdc33 G A 9: 57,993,883 (GRCm39) P88S probably damaging Het
Cdk14 A T 5: 4,944,029 (GRCm39) D385E probably damaging Het
Cnot3 T A 7: 3,648,335 (GRCm39) probably null Het
Csf1 T A 3: 107,661,170 (GRCm39) I116L probably damaging Het
Csrp2 G T 10: 110,775,140 (GRCm39) A192S probably benign Het
Dnah9 T C 11: 66,038,225 (GRCm39) T104A probably benign Het
Eml1 C T 12: 108,493,983 (GRCm39) P593S probably damaging Het
Entpd2 T A 2: 25,289,478 (GRCm39) I320N probably benign Het
Exosc9 A T 3: 36,608,821 (GRCm39) N140I probably damaging Het
Fam186a T C 15: 99,838,244 (GRCm39) T2667A probably benign Het
Fes T C 7: 80,030,615 (GRCm39) D558G probably damaging Het
Fgfr2 G T 7: 129,830,420 (GRCm39) T186K probably benign Het
Fnip1 A G 11: 54,400,826 (GRCm39) E1075G probably benign Het
Gbf1 A G 19: 46,267,760 (GRCm39) I1203V possibly damaging Het
Gja1 T A 10: 56,264,601 (GRCm39) M320K probably benign Het
Gm5431 A G 11: 48,785,608 (GRCm39) Y256H probably benign Het
Gpr20 C T 15: 73,567,853 (GRCm39) V179M probably damaging Het
Greb1 T G 12: 16,758,622 (GRCm39) D698A probably damaging Het
Hook2 A G 8: 85,724,754 (GRCm39) E500G probably damaging Het
Kif13b A T 14: 64,989,007 (GRCm39) N796I probably damaging Het
Kif1a C T 1: 92,952,296 (GRCm39) probably null Het
Lama1 T C 17: 68,087,612 (GRCm39) probably null Het
Mfsd1 C T 3: 67,501,718 (GRCm39) Q246* probably null Het
Mkrn3 A G 7: 62,069,282 (GRCm39) S170P probably benign Het
Ms4a6b A G 19: 11,499,059 (GRCm39) M58V probably benign Het
Muc4 T C 16: 32,577,169 (GRCm39) V2223A unknown Het
Mycbp2 A T 14: 103,513,323 (GRCm39) V811D probably benign Het
Or5p59 A T 7: 107,703,340 (GRCm39) N275Y probably damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Or9g4b T C 2: 85,616,685 (GRCm39) F277L probably damaging Het
Pcsk2 A G 2: 143,643,031 (GRCm39) E436G probably damaging Het
Pet100 T G 8: 3,671,764 (GRCm39) probably null Het
Pira2 A G 7: 3,844,553 (GRCm39) Y493H probably damaging Het
Prkdc C A 16: 15,557,335 (GRCm39) R2213S probably benign Het
Prmt2 A G 10: 76,045,280 (GRCm39) I342T possibly damaging Het
Psmc6 A G 14: 45,586,130 (GRCm39) E381G possibly damaging Het
Rrm1 G A 7: 102,110,063 (GRCm39) probably null Het
Sema3c A G 5: 17,932,630 (GRCm39) D711G probably benign Het
Sgcb T C 5: 73,798,153 (GRCm39) E103G possibly damaging Het
Sh3pxd2a A G 19: 47,255,848 (GRCm39) S957P probably damaging Het
Slc26a2 A G 18: 61,332,489 (GRCm39) V314A possibly damaging Het
Smarca5 G T 8: 81,438,372 (GRCm39) H655N probably damaging Het
Sspo T A 6: 48,442,510 (GRCm39) S2002T probably damaging Het
Sync T C 4: 129,187,544 (GRCm39) L192P probably damaging Het
Ush2a T C 1: 188,090,800 (GRCm39) M477T probably benign Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Vcam1 A G 3: 115,918,049 (GRCm39) V304A probably damaging Het
Vmn2r115 T A 17: 23,565,003 (GRCm39) W297R probably damaging Het
Vmn2r120 T A 17: 57,832,973 (GRCm39) M69L probably benign Het
Wdr11 A G 7: 129,226,515 (GRCm39) D771G 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
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
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'- TGTGGCCTGACTAGAACCAG -3'
(R):5'- GCTCTGTCTCACCACATCAGTG -3'

Sequencing Primer
(F):5'- TGACTAGAACCAGGGTCAACCAG -3'
(R):5'- TGTCTCACCACATCAGTGTACAGATG -3'
Posted On 2017-08-16