Incidental Mutation 'R6546:Chrna3'
ID 521204
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 045325-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R6546 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 54917401-54933846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54923185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 208 (I208F)
Ref Sequence ENSEMBL: ENSMUSP00000034851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034851] [ENSMUST00000214204]
AlphaFold Q8R4G9
Predicted Effect probably damaging
Transcript: ENSMUST00000034851
AA Change: I208F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034851
Gene: ENSMUSG00000032303
AA Change: I208F

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: I208F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.8065 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 T A 6: 34,776,234 (GRCm39) L242M probably damaging Het
Atad2b A T 12: 5,040,949 (GRCm39) H206L probably damaging Het
Bmp2k A G 5: 97,235,937 (GRCm39) Q1120R probably benign Het
Cdk18 G A 1: 132,050,088 (GRCm39) T29I probably damaging Het
Dhrs1 G A 14: 55,978,729 (GRCm39) P140S possibly damaging Het
Dnah14 C T 1: 181,566,552 (GRCm39) R2775C probably damaging Het
Fnip1 T G 11: 54,393,437 (GRCm39) N600K probably benign Het
Garin5b T C 7: 4,761,464 (GRCm39) D416G probably benign Het
Jmjd6 T C 11: 116,733,326 (GRCm39) Y117C probably damaging Het
Kbtbd4 T A 2: 90,739,635 (GRCm39) V340E probably damaging Het
Kif26b T C 1: 178,755,871 (GRCm39) V1995A probably damaging Het
Krt10 T C 11: 99,278,221 (GRCm39) probably null Het
Macf1 T C 4: 123,326,074 (GRCm39) D3022G probably benign Het
Map3k13 C T 16: 21,740,527 (GRCm39) T618I probably benign Het
Mat1a G A 14: 40,843,379 (GRCm39) V302M probably damaging Het
Med13l T C 5: 118,859,539 (GRCm39) F242S probably damaging Het
Npffr2 A T 5: 89,730,871 (GRCm39) K267M probably damaging Het
Nup58 A T 14: 60,460,672 (GRCm39) probably null Het
Papss2 A G 19: 32,640,548 (GRCm39) Y440C possibly damaging Het
Ppil4 T A 10: 7,674,186 (GRCm39) I110N probably damaging Het
Qrfpr G A 3: 36,234,414 (GRCm39) T309I probably damaging Het
Rbl2 C A 8: 91,796,998 (GRCm39) S65R probably benign Het
Rchy1 G A 5: 92,105,817 (GRCm39) H44Y probably damaging Het
Slc19a3 T C 1: 83,004,081 (GRCm39) T7A probably benign Het
St7 C T 6: 17,852,313 (GRCm39) A233V probably damaging Het
Syn2 T A 6: 115,258,059 (GRCm39) S546T probably benign Het
Syne1 A T 10: 5,168,645 (GRCm39) Y5245* probably null Het
Trmt6 A G 2: 132,654,073 (GRCm39) W52R probably benign Het
Ubr4 G A 4: 139,141,705 (GRCm39) V1264M probably damaging Het
Ulk4 A T 9: 120,970,960 (GRCm39) V1004D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r27 T A 6: 124,169,369 (GRCm39) H587L possibly damaging Het
Vmn2r79 A G 7: 86,652,741 (GRCm39) R478G probably benign Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G 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
R3153: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
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'- ATGCAGAGCGTCACCTTCTC -3'
(R):5'- CAGGAGAAGTGACTTGGATCCC -3'

Sequencing Primer
(F):5'- TTCTCCCCACAGTCGGAG -3'
(R):5'- AAGTGACTTGGATCCCTCCGG -3'
Posted On 2018-06-06