Incidental Mutation 'R7222:Chrna5'
ID 561889
Institutional Source Beutler Lab
Gene Symbol Chrna5
Ensembl Gene ENSMUSG00000035594
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 5
Synonyms Acra-5, Acra5
MMRRC Submission 045294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R7222 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 54888164-54915063 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54905347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 53 (D53G)
Ref Sequence ENSEMBL: ENSMUSP00000150942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093844] [ENSMUST00000213960] [ENSMUST00000217408]
AlphaFold Q2MKA5
Predicted Effect probably benign
Transcript: ENSMUST00000093844
AA Change: D24G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000091365
Gene: ENSMUSG00000035594
AA Change: D24G

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 18 221 4.9e-72 PFAM
Pfam:Neur_chan_memb 228 352 1.9e-51 PFAM
Pfam:Neur_chan_memb 338 417 1.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213960
AA Change: D53G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216865
Predicted Effect probably benign
Transcript: ENSMUST00000217408
Meta Mutation Damage Score 0.1171 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are less sensitive to nicotine-induced seizures than wild-type controls and exhibit a significantly shorter latency time to seizure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,519 (GRCm39) N1151K probably benign Het
Add3 T C 19: 53,205,277 (GRCm39) V9A unknown Het
Ankar A G 1: 72,705,514 (GRCm39) I832T probably damaging Het
Arhgef10l C A 4: 140,248,580 (GRCm39) W785L probably damaging Het
Atp7b G A 8: 22,512,394 (GRCm39) Q490* probably null Het
Clip1 T A 5: 123,749,904 (GRCm39) N993I probably damaging Het
Cyp3a59 A T 5: 146,033,385 (GRCm39) probably null Het
Dnah3 T A 7: 119,670,746 (GRCm39) N651Y probably benign Het
Dop1a T C 9: 86,404,929 (GRCm39) probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,701,072 (GRCm39) probably benign Het
Flg T A 3: 93,195,621 (GRCm39) S74T unknown Het
Fras1 T C 5: 96,784,045 (GRCm39) Y850H probably damaging Het
Fras1 A T 5: 96,784,668 (GRCm39) T884S probably benign Het
Fsip2 A G 2: 82,814,015 (GRCm39) T3445A probably benign Het
Herc1 C A 9: 66,374,781 (GRCm39) P3237H probably damaging Het
Ifi35 A G 11: 101,348,341 (GRCm39) N123S probably benign Het
Igkv1-117 A T 6: 68,098,733 (GRCm39) D94V probably damaging Het
Kif1b T C 4: 149,309,614 (GRCm39) D764G probably damaging Het
Lztr1 A G 16: 17,341,996 (GRCm39) E657G possibly damaging Het
Mmd2 G T 5: 142,553,682 (GRCm39) L160I probably benign Het
Muc2 A T 7: 141,290,758 (GRCm39) T15S Het
Muc6 T A 7: 141,214,428 (GRCm39) H2835L unknown Het
Myo1h G A 5: 114,493,322 (GRCm39) probably null Het
Or10v5 C A 19: 11,806,021 (GRCm39) R123L probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or52n4 T C 7: 104,293,937 (GRCm39) D214G probably damaging Het
Or5d43 T A 2: 88,104,809 (GRCm39) M195L probably benign Het
Or5p72 A G 7: 108,021,844 (GRCm39) D22G probably benign Het
Or6c219 A G 10: 129,781,758 (GRCm39) Y58H probably damaging Het
Or7g32 A T 9: 19,388,763 (GRCm39) V261E probably damaging Het
Osbpl7 A G 11: 96,951,364 (GRCm39) T684A probably damaging Het
P2ry14 T C 3: 59,022,803 (GRCm39) K219R probably benign Het
Pde4d A T 13: 109,894,113 (GRCm39) H156L probably damaging Het
Polq G T 16: 36,906,995 (GRCm39) E2319* probably null Het
Ranbp3 T G 17: 57,017,211 (GRCm39) V409G probably damaging Het
Sart3 T C 5: 113,884,717 (GRCm39) D629G probably benign Het
Selenon T A 4: 134,275,288 (GRCm39) T137S possibly damaging Het
Setd2 T A 9: 110,380,530 (GRCm39) D55E Het
Slamf8 G A 1: 172,411,775 (GRCm39) T240I possibly damaging Het
Slc39a10 A G 1: 46,858,452 (GRCm39) L615P possibly damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tbce T C 13: 14,172,735 (GRCm39) D505G probably damaging Het
Tenm3 C T 8: 48,754,004 (GRCm39) G800R probably damaging Het
Terf2ip T C 8: 112,738,547 (GRCm39) V145A possibly damaging Het
Tmprss7 T C 16: 45,511,256 (GRCm39) I41V probably benign Het
Traj49 A T 14: 54,406,160 (GRCm39) N6I Het
Trim30a T C 7: 104,070,639 (GRCm39) probably null Het
Ubr4 T A 4: 139,190,684 (GRCm39) S905T unknown Het
Unc93a2 A G 17: 7,643,866 (GRCm39) S148P probably damaging Het
Zfp948 T A 17: 21,808,102 (GRCm39) H431Q probably damaging Het
Zfyve1 A G 12: 83,601,779 (GRCm39) F525L probably benign Het
Other mutations in Chrna5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Chrna5 APN 9 54,911,683 (GRCm39) missense possibly damaging 0.61
IGL01503:Chrna5 APN 9 54,905,455 (GRCm39) intron probably benign
IGL01617:Chrna5 APN 9 54,912,297 (GRCm39) missense probably damaging 0.98
IGL01935:Chrna5 APN 9 54,912,127 (GRCm39) missense probably benign 0.01
IGL02613:Chrna5 APN 9 54,913,705 (GRCm39) missense probably damaging 0.99
IGL03248:Chrna5 APN 9 54,911,923 (GRCm39) missense probably damaging 1.00
IGL03412:Chrna5 APN 9 54,911,719 (GRCm39) missense probably damaging 1.00
R0712:Chrna5 UTSW 9 54,911,647 (GRCm39) missense probably damaging 1.00
R1619:Chrna5 UTSW 9 54,911,649 (GRCm39) missense probably benign 0.00
R1698:Chrna5 UTSW 9 54,911,926 (GRCm39) missense probably damaging 1.00
R1789:Chrna5 UTSW 9 54,911,935 (GRCm39) missense possibly damaging 0.94
R1800:Chrna5 UTSW 9 54,912,159 (GRCm39) missense probably damaging 0.99
R4028:Chrna5 UTSW 9 54,905,370 (GRCm39) missense probably damaging 1.00
R4030:Chrna5 UTSW 9 54,905,370 (GRCm39) missense probably damaging 1.00
R4031:Chrna5 UTSW 9 54,905,370 (GRCm39) missense probably damaging 1.00
R4201:Chrna5 UTSW 9 54,905,359 (GRCm39) missense probably benign 0.00
R4792:Chrna5 UTSW 9 54,911,985 (GRCm39) missense probably damaging 1.00
R5196:Chrna5 UTSW 9 54,913,803 (GRCm39) missense possibly damaging 0.91
R5718:Chrna5 UTSW 9 54,905,389 (GRCm39) missense probably benign 0.00
R5779:Chrna5 UTSW 9 54,905,388 (GRCm39) missense probably benign 0.35
R6254:Chrna5 UTSW 9 54,913,740 (GRCm39) missense probably benign 0.00
R6492:Chrna5 UTSW 9 54,905,347 (GRCm39) missense probably benign 0.11
R6887:Chrna5 UTSW 9 54,912,417 (GRCm39) missense probably benign 0.00
R6986:Chrna5 UTSW 9 54,913,741 (GRCm39) missense possibly damaging 0.83
R7056:Chrna5 UTSW 9 54,888,985 (GRCm39) intron probably benign
R7384:Chrna5 UTSW 9 54,912,117 (GRCm39) missense probably damaging 1.00
R7572:Chrna5 UTSW 9 54,913,749 (GRCm39) missense probably damaging 1.00
R7653:Chrna5 UTSW 9 54,909,718 (GRCm39) missense probably benign
R7846:Chrna5 UTSW 9 54,912,391 (GRCm39) missense probably benign 0.38
R8808:Chrna5 UTSW 9 54,905,348 (GRCm39) missense probably benign 0.20
R8901:Chrna5 UTSW 9 54,911,737 (GRCm39) missense probably damaging 1.00
R9303:Chrna5 UTSW 9 54,912,156 (GRCm39) missense probably benign 0.16
R9716:Chrna5 UTSW 9 54,911,919 (GRCm39) missense probably benign 0.00
Z1176:Chrna5 UTSW 9 54,911,766 (GRCm39) missense probably damaging 1.00
Z1177:Chrna5 UTSW 9 54,912,240 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- AGGGCCAGCCAATTTCAAAC -3'
(R):5'- TCTAGTGGCTAACTCACACCTGG -3'

Sequencing Primer
(F):5'- GCTATTTGGGGGAGAGCA -3'
(R):5'- CCCTAAGTGCTAAGTGGA -3'
Posted On 2019-06-26