Incidental Mutation 'R5718:Chrna5'
ID 451287
Institutional Source Beutler Lab
Gene Symbol Chrna5
Ensembl Gene ENSMUSG00000035594
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 5
Synonyms Acra-5, Acra5
MMRRC Submission 043338-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R5718 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 54888164-54915063 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54905389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 67 (H67R)
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: H38R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091365
Gene: ENSMUSG00000035594
AA Change: H38R

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: H67R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216865
Predicted Effect probably benign
Transcript: ENSMUST00000217408
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 T C 8: 27,603,514 (GRCm39) probably null Het
Ahctf1 G T 1: 179,596,904 (GRCm39) H81N possibly damaging Het
Alyref2 T C 1: 171,331,678 (GRCm39) S152P possibly damaging Het
Arhgef7 C T 8: 11,835,774 (GRCm39) T20I probably damaging Het
Armc3 T G 2: 19,308,610 (GRCm39) Y759* probably null Het
Atg5 A G 10: 44,238,983 (GRCm39) S255G probably benign Het
Atp11b A G 3: 35,891,665 (GRCm39) I1026V probably benign Het
Atp1a2 C A 1: 172,107,009 (GRCm39) K770N probably damaging Het
Bptf G T 11: 107,002,260 (GRCm39) A284E probably damaging Het
Celsr2 A G 3: 108,300,674 (GRCm39) S815P probably benign Het
Cic A G 7: 24,972,203 (GRCm39) I645V probably benign Het
Clpx A T 9: 65,207,246 (GRCm39) Q48L probably benign Het
Crhr2 G A 6: 55,069,085 (GRCm39) Q397* probably null Het
Cyp11a1 G A 9: 57,925,508 (GRCm39) V48I probably benign Het
Dchs1 C T 7: 105,404,955 (GRCm39) R2529H probably benign Het
Dnah7c A T 1: 46,787,826 (GRCm39) H3293L possibly damaging Het
Dock6 G T 9: 21,735,789 (GRCm39) D986E probably benign Het
Efcab6 T A 15: 83,788,439 (GRCm39) N952Y probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epg5 G A 18: 78,029,618 (GRCm39) C1327Y probably damaging Het
Fbxw18 T C 9: 109,520,636 (GRCm39) E241G probably benign Het
Fsd1 T G 17: 56,297,542 (GRCm39) probably benign Het
Gcnt3 A G 9: 69,941,552 (GRCm39) S339P probably benign Het
Gldc T A 19: 30,088,172 (GRCm39) K829* probably null Het
Gli3 G A 13: 15,652,750 (GRCm39) probably null Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Hmcn1 A T 1: 150,566,351 (GRCm39) C2217* probably null Het
Hmcn1 A T 1: 150,485,417 (GRCm39) I4395N probably damaging Het
Hmgxb3 A G 18: 61,273,909 (GRCm39) M861T probably benign Het
Ift172 A G 5: 31,412,621 (GRCm39) S1545P possibly damaging Het
Jak3 C A 8: 72,136,998 (GRCm39) L725M probably damaging Het
Lrig2 A T 3: 104,375,931 (GRCm39) C90* probably null Het
Mcm7 C T 5: 138,163,081 (GRCm39) R357H possibly damaging Het
Mcoln2 T C 3: 145,887,581 (GRCm39) S333P probably damaging Het
Mrpl22 A T 11: 58,068,109 (GRCm39) I136L probably benign Het
Ncam2 A T 16: 81,386,702 (GRCm39) probably null Het
Ncdn G A 4: 126,643,743 (GRCm39) Q360* probably null Het
Nsun2 A G 13: 69,771,403 (GRCm39) K338E probably benign Het
Obscn T C 11: 58,927,634 (GRCm39) T6105A probably damaging Het
Or2aj6 G A 16: 19,443,139 (GRCm39) S237F probably benign Het
Or8g36 A T 9: 39,422,338 (GRCm39) L226H probably damaging Het
Pcnx4 T A 12: 72,613,968 (GRCm39) F638I possibly damaging Het
Pfn3 T C 13: 55,562,853 (GRCm39) I43V probably benign Het
Pigm C A 1: 172,205,012 (GRCm39) probably null Het
Pkhd1l1 T A 15: 44,408,813 (GRCm39) S2433R probably damaging Het
Pomt1 C A 2: 32,138,704 (GRCm39) A440D possibly damaging Het
Ptprj T C 2: 90,288,613 (GRCm39) D691G probably benign Het
Qrich1 T A 9: 108,406,022 (GRCm39) S72T probably damaging Het
Ralgapa2 T A 2: 146,295,326 (GRCm39) probably null Het
Rarg A C 15: 102,149,502 (GRCm39) S156A probably damaging Het
Rasl11a A G 5: 146,783,954 (GRCm39) K133R probably benign Het
Rcor1 A G 12: 111,068,069 (GRCm39) D158G probably benign Het
Rpn2 C T 2: 157,163,747 (GRCm39) T613M probably damaging Het
Sipa1l2 T A 8: 126,217,987 (GRCm39) H450L probably damaging Het
Slc25a21 T C 12: 56,764,941 (GRCm39) I263V probably benign Het
Slc25a32 A T 15: 38,960,957 (GRCm39) V242E probably benign Het
Slc5a5 T A 8: 71,340,399 (GRCm39) T484S probably benign Het
Tdrd3 T C 14: 87,743,876 (GRCm39) V608A probably benign Het
Thnsl1 C A 2: 21,216,811 (GRCm39) H188Q possibly damaging Het
Tshz1 A T 18: 84,032,649 (GRCm39) H586Q probably damaging Het
Vmn2r27 C T 6: 124,169,103 (GRCm39) A676T possibly damaging Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Xbp1 T A 11: 5,471,903 (GRCm39) F10I probably benign Het
Zbtb1 G A 12: 76,433,698 (GRCm39) M561I probably benign Het
Zfp708 T C 13: 67,218,522 (GRCm39) K446E 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
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
R7222:Chrna5 UTSW 9 54,905,347 (GRCm39) missense probably benign 0.11
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'- AAGGGCTGCATTTGGTCAC -3'

Sequencing Primer
(F):5'- TATTTGGGGGAGAGCAGC -3'
(R):5'- ACTCTGGCAACCTCTAGTGG -3'
Posted On 2017-01-03