Incidental Mutation 'R3154:Chrna3'
ID 263411
Institutional Source Beutler Lab
Gene Symbol Chrna3
Ensembl Gene ENSMUSG00000032303
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 3
Synonyms Acra3, Acra-3, A730007P14Rik, (a)3, neuronal nicotinic acetylcholine receptor, alpha 3 subunit, alpha 3
MMRRC Submission 040605-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R3154 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 54917401-54933846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54923334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 158 (C158Y)
Ref Sequence ENSEMBL: ENSMUSP00000150636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034851] [ENSMUST00000214204]
AlphaFold Q8R4G9
Predicted Effect probably damaging
Transcript: ENSMUST00000034851
AA Change: C158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034851
Gene: ENSMUSG00000032303
AA Change: C158Y

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Neur_chan_LBD 34 240 6.1e-77 PFAM
Pfam:Neur_chan_memb 247 494 7.5e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214204
AA Change: C158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9707 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation show high postnatal and postweaning mortality. Mutants show reduced bladder contractility resulting in enlarged bladder, infections and urinary stones. Eyes are small, with dilated ocular pupils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,282,744 (GRCm39) N200H probably damaging Het
Abca17 T A 17: 24,547,720 (GRCm39) D218V probably damaging Het
Ap1b1 T C 11: 4,973,135 (GRCm39) V326A possibly damaging Het
Bdp1 A T 13: 100,186,322 (GRCm39) V1710E probably damaging Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Cobll1 A T 2: 64,937,394 (GRCm39) M406K probably benign Het
Cyp2d34 T C 15: 82,501,767 (GRCm39) K248E probably benign Het
Dcdc2a A C 13: 25,286,340 (GRCm39) I125L probably benign Het
Dgat1 G A 15: 76,386,721 (GRCm39) L439F probably benign Het
Disc1 T A 8: 125,862,043 (GRCm39) S472T probably damaging Het
Dnajb3 C A 1: 88,132,773 (GRCm39) V210F probably benign Het
Fancd2 A G 6: 113,570,230 (GRCm39) S1394G possibly damaging Het
Fasn A T 11: 120,698,765 (GRCm39) L2475Q probably damaging Het
Fn1 A T 1: 71,632,242 (GRCm39) C2335S probably damaging Het
Gpld1 T C 13: 25,127,603 (GRCm39) S2P unknown Het
Gpld1 G T 13: 25,140,146 (GRCm39) probably null Het
Gsc2 G A 16: 17,732,364 (GRCm39) R137W probably damaging Het
Gsdme T C 6: 50,228,343 (GRCm39) R42G probably damaging Het
Gtf3c5 T C 2: 28,469,548 (GRCm39) T119A probably damaging Het
Hs6st3 T C 14: 120,106,389 (GRCm39) S266P probably damaging Het
Htr2a T C 14: 74,943,262 (GRCm39) F281L probably benign Het
Hus1b T C 13: 31,131,236 (GRCm39) K141R probably benign Het
Ireb2 T C 9: 54,793,230 (GRCm39) probably null Het
Klhdc7a T A 4: 139,693,024 (GRCm39) Y641F probably benign Het
Kri1 T C 9: 21,193,190 (GRCm39) E57G possibly damaging Het
Map4 A G 9: 109,828,860 (GRCm39) T82A probably benign Het
Mthfr T G 4: 148,136,061 (GRCm39) M353R probably benign Het
Mtus2 A G 5: 148,240,083 (GRCm39) probably benign Het
Muc5ac T A 7: 141,346,473 (GRCm39) probably null Het
Myo15a T A 11: 60,370,186 (GRCm39) probably null Het
Nynrin A T 14: 56,101,044 (GRCm39) Q278L possibly damaging Het
Pced1b T G 15: 97,282,423 (GRCm39) probably null Het
Penk T C 4: 4,134,152 (GRCm39) D165G probably damaging Het
Pfkm T A 15: 98,016,090 (GRCm39) V90D probably damaging Het
Pgk2 T A 17: 40,519,134 (GRCm39) D98V probably damaging Het
Psg28 C A 7: 18,160,348 (GRCm39) A283S possibly damaging Het
Rgl3 A G 9: 21,892,070 (GRCm39) L338P probably damaging Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Ros1 T C 10: 51,927,077 (GRCm39) H2181R probably benign Het
Slc38a11 C T 2: 65,160,679 (GRCm39) C305Y probably damaging Het
Speg T A 1: 75,378,186 (GRCm39) V798E probably damaging Het
Spesp1 G A 9: 62,189,376 (GRCm39) probably benign Het
Styk1 A T 6: 131,286,975 (GRCm39) Y84* probably null Het
Syt2 T C 1: 134,669,599 (GRCm39) L80P possibly damaging Het
Tra2a C T 6: 49,222,446 (GRCm39) probably benign Het
Trim10 T A 17: 37,182,580 (GRCm39) C149S probably damaging Het
Vmn2r38 T C 7: 9,097,689 (GRCm39) T135A probably benign Het
Wipf1 A G 2: 73,267,834 (GRCm39) V188A possibly damaging Het
Yipf2 G A 9: 21,501,197 (GRCm39) A67V probably benign Het
Zfp759 A G 13: 67,286,719 (GRCm39) E96G probably benign Het
Zic3 G A X: 57,076,838 (GRCm39) V100M possibly damaging Het
Other mutations in Chrna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02469:Chrna3 APN 9 54,923,290 (GRCm39) missense probably benign 0.01
IGL02484:Chrna3 APN 9 54,922,821 (GRCm39) missense probably damaging 1.00
R0494:Chrna3 UTSW 9 54,929,562 (GRCm39) missense probably damaging 1.00
R0538:Chrna3 UTSW 9 54,923,290 (GRCm39) missense probably benign 0.01
R0557:Chrna3 UTSW 9 54,923,149 (GRCm39) missense probably damaging 1.00
R0674:Chrna3 UTSW 9 54,922,456 (GRCm39) missense probably damaging 1.00
R1552:Chrna3 UTSW 9 54,923,192 (GRCm39) missense probably benign 0.16
R1750:Chrna3 UTSW 9 54,923,341 (GRCm39) missense probably damaging 1.00
R2191:Chrna3 UTSW 9 54,923,329 (GRCm39) missense probably damaging 1.00
R2989:Chrna3 UTSW 9 54,923,334 (GRCm39) missense probably damaging 1.00
R3114:Chrna3 UTSW 9 54,923,334 (GRCm39) missense probably damaging 1.00
R3153:Chrna3 UTSW 9 54,923,334 (GRCm39) missense probably damaging 1.00
R3434:Chrna3 UTSW 9 54,931,610 (GRCm39) missense possibly damaging 0.95
R3732:Chrna3 UTSW 9 54,923,178 (GRCm39) missense probably benign 0.00
R3732:Chrna3 UTSW 9 54,923,178 (GRCm39) missense probably benign 0.00
R3733:Chrna3 UTSW 9 54,923,178 (GRCm39) missense probably benign 0.00
R4758:Chrna3 UTSW 9 54,929,560 (GRCm39) missense probably damaging 1.00
R4903:Chrna3 UTSW 9 54,922,810 (GRCm39) missense probably benign 0.01
R5430:Chrna3 UTSW 9 54,920,192 (GRCm39) missense probably damaging 0.98
R5795:Chrna3 UTSW 9 54,922,552 (GRCm39) missense probably benign 0.17
R6546:Chrna3 UTSW 9 54,923,185 (GRCm39) missense probably damaging 1.00
R6806:Chrna3 UTSW 9 54,923,094 (GRCm39) missense probably damaging 1.00
R7516:Chrna3 UTSW 9 54,922,653 (GRCm39) missense probably benign 0.00
R7703:Chrna3 UTSW 9 54,923,408 (GRCm39) missense probably benign 0.00
R8053:Chrna3 UTSW 9 54,922,674 (GRCm39) missense probably benign 0.25
R8762:Chrna3 UTSW 9 54,922,995 (GRCm39) missense probably damaging 1.00
R9170:Chrna3 UTSW 9 54,933,671 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACGTGATGTCTTGGTAGATCTC -3'
(R):5'- CACTTGTTATGCACGGGAAGC -3'

Sequencing Primer
(F):5'- GGTAGATCTCCTCACAGCAGTTG -3'
(R):5'- TATGCACGGGAAGCCAGGC -3'
Posted On 2015-02-05