Incidental Mutation 'R3153:Chrna3'
ID 264474
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 040604-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R3153 (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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 54 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
Abhd12 A G 2: 150,676,275 (GRCm39) F361L probably benign Het
Abr A T 11: 76,377,295 (GRCm39) I59N probably damaging Het
Agbl1 A G 7: 76,369,944 (GRCm39) E681G probably damaging Het
B3gnt4 G T 5: 123,648,716 (GRCm39) R27L probably benign Het
Cct8l1 A C 5: 25,722,137 (GRCm39) E284A probably damaging Het
Chd7 T A 4: 8,855,174 (GRCm39) N2134K probably benign Het
Cndp2 C A 18: 84,686,722 (GRCm39) M433I probably benign 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
Col20a1 C T 2: 180,650,386 (GRCm39) P1074L probably damaging Het
Coq6 G A 12: 84,418,309 (GRCm39) V298M probably damaging Het
Cpt1a A G 19: 3,406,430 (GRCm39) Y132C probably damaging Het
Dcdc2a A C 13: 25,286,340 (GRCm39) I125L probably benign Het
Eps8l1 A T 7: 4,474,798 (GRCm39) I321F probably damaging Het
Fancd2 A G 6: 113,570,230 (GRCm39) S1394G possibly damaging Het
Fcrl5 T C 3: 87,350,987 (GRCm39) F166L probably benign Het
Gatc T C 5: 115,473,546 (GRCm39) E131G probably benign Het
Gpld1 T C 13: 25,127,603 (GRCm39) S2P unknown Het
Gprc5b G A 7: 118,575,770 (GRCm39) P385L probably damaging Het
Gsc2 G A 16: 17,732,364 (GRCm39) R137W probably damaging Het
Hsd3b1 T C 3: 98,759,980 (GRCm39) D337G probably damaging Het
Ireb2 T C 9: 54,793,230 (GRCm39) probably null Het
Kank1 T A 19: 25,388,052 (GRCm39) V575E possibly damaging Het
Kcnmb1 A T 11: 33,916,339 (GRCm39) D95V probably damaging Het
L3mbtl4 T A 17: 68,764,243 (GRCm39) Y125* probably null Het
Lce1h C T 3: 92,670,982 (GRCm39) G57R unknown Het
Lgalsl A G 11: 20,776,487 (GRCm39) F135S probably damaging Het
Lrba A G 3: 86,192,526 (GRCm39) M147V probably damaging Het
Mdm2 T C 10: 117,545,618 (GRCm39) E23G possibly damaging Het
Mthfd1 C A 12: 76,358,737 (GRCm39) Q67K probably benign Het
Mtus2 T C 5: 148,019,870 (GRCm39) L755P probably damaging Het
Or5m13b T C 2: 85,754,074 (GRCm39) V154A probably benign Het
Orc3 A G 4: 34,575,124 (GRCm39) F587L probably damaging Het
Pcdhb7 C T 18: 37,476,126 (GRCm39) P421S probably damaging Het
Pgk2 T A 17: 40,519,134 (GRCm39) D98V probably damaging Het
Pkd1l1 A C 11: 8,817,207 (GRCm39) S1364A probably benign Het
Rin3 A C 12: 102,334,800 (GRCm39) E157A unknown Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Rph3a T C 5: 121,111,440 (GRCm39) T47A probably damaging Het
Sap18 T C 14: 58,039,402 (GRCm39) M68T probably benign Het
Sfrp2 A G 3: 83,680,577 (GRCm39) T246A probably benign Het
Slc18a3 A G 14: 32,185,228 (GRCm39) V385A probably benign Het
Slitrk3 C T 3: 72,956,315 (GRCm39) W819* probably null Het
Smap1 A T 1: 23,892,630 (GRCm39) D111E 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
Sv2a T A 3: 96,092,574 (GRCm39) D91E possibly damaging Het
Tbc1d5 A G 17: 51,275,264 (GRCm39) I77T probably damaging Het
Trim10 T A 17: 37,182,580 (GRCm39) C149S probably damaging Het
Zbtb38 T C 9: 96,570,302 (GRCm39) K261E probably benign Het
Zfp202 T C 9: 40,119,734 (GRCm39) L179P probably benign Het
Zkscan5 T A 5: 145,149,437 (GRCm39) S251R probably benign 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
R3154: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'- CGTGATGTCTTGGTAGATCTCC -3'
(R):5'- TCACTTGTTATGCACGGGAAG -3'

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