Incidental Mutation 'R4661:Chrna2'
ID 352883
Institutional Source Beutler Lab
Gene Symbol Chrna2
Ensembl Gene ENSMUSG00000022041
Gene Name cholinergic receptor nicotinic alpha 2 subunit
Synonyms Acra-2, Acra2
MMRRC Submission 041600-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4661 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 66372488-66390397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66386292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 146 (G146D)
Ref Sequence ENSEMBL: ENSMUSP00000145896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022620] [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000178730] [ENSMUST00000206455]
AlphaFold Q91X60
Predicted Effect probably damaging
Transcript: ENSMUST00000022620
AA Change: G146D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041
AA Change: G146D

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 36 242 2.2e-81 PFAM
Pfam:Neur_chan_memb 249 503 5e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022622
SMART Domains Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 870 1008 1.7e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089250
SMART Domains Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 828 966 2e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136216
Predicted Effect probably benign
Transcript: ENSMUST00000154865
SMART Domains Protein: ENSMUSP00000122683
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 83 8.5e-27 PFAM
low complexity region 117 130 N/A INTRINSIC
Pfam:Focal_AT 243 375 5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178730
SMART Domains Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 870 1002 2.1e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206455
AA Change: G146D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T C 9: 44,198,627 (GRCm39) N42D probably damaging Het
Adamdec1 G A 14: 68,807,562 (GRCm39) T366I probably damaging Het
Adamts7 C A 9: 90,075,383 (GRCm39) H1038Q probably benign Het
Aff3 T C 1: 38,666,209 (GRCm39) D5G possibly damaging Het
Amhr2 A T 15: 102,362,688 (GRCm39) D485V probably damaging Het
Arhgap35 A T 7: 16,298,663 (GRCm39) F134Y probably damaging Het
Asxl3 A G 18: 22,649,534 (GRCm39) T508A probably benign Het
Atp10a TGGCGGCGGC TGGCGGC 7: 58,308,248 (GRCm39) probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Atp9a A G 2: 168,479,592 (GRCm39) F928L possibly damaging Het
BC034090 A T 1: 155,108,221 (GRCm39) D13E probably damaging Het
Bco1 A G 8: 117,855,980 (GRCm39) E425G probably benign Het
Brsk1 T C 7: 4,710,298 (GRCm39) S436P possibly damaging Het
C1s1 T C 6: 124,513,449 (GRCm39) I193V probably benign Het
Calb2 A G 8: 110,894,709 (GRCm39) F21L probably benign Het
Catsperz T G 19: 6,902,171 (GRCm39) T108P probably benign Het
Cep57l1 T A 10: 41,595,767 (GRCm39) D329V possibly damaging Het
Cfdp1 A G 8: 112,557,577 (GRCm39) F188S probably benign Het
Col6a1 A C 10: 76,550,506 (GRCm39) F520V unknown Het
Cyb5d2 C A 11: 72,669,771 (GRCm39) V43L probably damaging Het
Cyp2c40 T C 19: 39,775,290 (GRCm39) T321A probably benign Het
Dnajc16 A C 4: 141,490,859 (GRCm39) Y764D probably damaging Het
Dsg1a G A 18: 20,473,590 (GRCm39) V888M probably damaging Het
F5 A C 1: 164,012,489 (GRCm39) T468P probably damaging Het
Faap24 A G 7: 35,094,509 (GRCm39) M97T probably benign Het
Fam227b A T 2: 125,849,230 (GRCm39) I334N probably damaging Het
Frem2 G T 3: 53,562,864 (GRCm39) P548T probably damaging Het
Gfm1 A G 3: 67,340,731 (GRCm39) E94G probably damaging Het
Gm17606 A T 14: 54,885,696 (GRCm39) probably benign Het
Gnb2 A T 5: 137,528,515 (GRCm39) M1K probably null Het
Gys1 G A 7: 45,104,258 (GRCm39) A544T probably damaging Het
Hdac5 T C 11: 102,096,675 (GRCm39) Y230C probably damaging Het
Hunk A T 16: 90,244,196 (GRCm39) probably null Het
Ifnl2 A G 7: 28,209,635 (GRCm39) F51L probably damaging Het
Itpr1 T C 6: 108,387,892 (GRCm39) probably null Het
Kcnj1 A G 9: 32,307,918 (GRCm39) Y114C probably benign Het
Kdm4b T A 17: 56,706,459 (GRCm39) S322T probably damaging Het
Kif27 T C 13: 58,471,730 (GRCm39) E786G probably damaging Het
Kif6 T C 17: 50,060,909 (GRCm39) V414A probably benign Het
L1td1 A G 4: 98,621,861 (GRCm39) K141R possibly damaging Het
Loxhd1 A G 18: 77,490,581 (GRCm39) I1394V possibly damaging Het
Lrfn5 A T 12: 61,886,433 (GRCm39) M74L probably damaging Het
Lrp6 C T 6: 134,488,230 (GRCm39) D289N probably benign Het
Mroh7 A G 4: 106,548,710 (GRCm39) probably null Het
Muc4 A C 16: 32,589,651 (GRCm39) E2885A possibly damaging Het
Myo18b G T 5: 113,023,041 (GRCm39) probably benign Het
Ncln G A 10: 81,328,902 (GRCm39) A172V probably damaging Het
Nek9 G A 12: 85,367,666 (GRCm39) T335M possibly damaging Het
Notch2 A G 3: 98,042,829 (GRCm39) Y1398C probably damaging Het
Or10g6 A T 9: 39,933,823 (GRCm39) I45F probably damaging Het
Or2d4 T A 7: 106,544,074 (GRCm39) I45F probably damaging Het
Or5p52 A T 7: 107,502,188 (GRCm39) H88L probably benign Het
Pax2 G A 19: 44,749,376 (GRCm39) V40M probably damaging Het
Pde6c A G 19: 38,157,887 (GRCm39) Y637C probably damaging Het
Plppr5 A G 3: 117,414,618 (GRCm39) I80V probably damaging Het
Pold1 G T 7: 44,182,233 (GRCm39) P1100T probably damaging Het
Prune2 T C 19: 16,977,387 (GRCm39) Y41H probably damaging Het
Rgl2 C T 17: 34,152,200 (GRCm39) A329V possibly damaging Het
Rilp T A 11: 75,402,250 (GRCm39) Y250N probably damaging Het
Rilpl1 A G 5: 124,652,751 (GRCm39) V19A probably benign Het
Rtp3 T C 9: 110,815,519 (GRCm39) probably null Het
Rufy4 A G 1: 74,172,266 (GRCm39) K246E probably damaging Het
Saraf C A 8: 34,635,616 (GRCm39) A306E probably damaging Het
Slc26a8 A T 17: 28,857,658 (GRCm39) N828K probably benign Het
Src C T 2: 157,311,852 (GRCm39) P527S probably damaging Het
Susd3 C T 13: 49,384,778 (GRCm39) probably null Het
Syngap1 T C 17: 27,185,880 (GRCm39) L1270P probably damaging Het
Taf1c G A 8: 120,325,589 (GRCm39) P758S probably damaging Het
Tenm2 A T 11: 35,915,275 (GRCm39) N2087K probably damaging Het
Tfrc A T 16: 32,448,969 (GRCm39) I703F probably damaging Het
Thap1 C G 8: 26,650,874 (GRCm39) T48S probably benign Het
Tspear T C 10: 77,702,163 (GRCm39) F199L probably benign Het
Usp17lc A T 7: 103,067,797 (GRCm39) H364L probably benign Het
Usp9x A G X: 12,989,747 (GRCm39) R776G possibly damaging Homo
Vmn1r1 T C 1: 181,984,789 (GRCm39) E292G possibly damaging Het
Vmn1r125 T G 7: 21,006,552 (GRCm39) V150G probably damaging Het
Vmn1r167 A T 7: 23,204,117 (GRCm39) L300I probably damaging Het
Vmn2r106 A C 17: 20,487,885 (GRCm39) I838S probably benign Het
Wdr64 A T 1: 175,554,060 (GRCm39) S197C probably damaging Het
Zfp248 A T 6: 118,410,268 (GRCm39) V47E possibly damaging Het
Other mutations in Chrna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02738:Chrna2 APN 14 66,386,889 (GRCm39) missense probably benign 0.01
IGL03172:Chrna2 APN 14 66,379,688 (GRCm39) missense probably benign
IGL03268:Chrna2 APN 14 66,388,395 (GRCm39) splice site probably benign
IGL03344:Chrna2 APN 14 66,388,415 (GRCm39) missense probably damaging 0.99
intrepid UTSW 14 66,383,902 (GRCm39) missense probably damaging 1.00
PIT1430001:Chrna2 UTSW 14 66,387,186 (GRCm39) missense probably benign 0.01
R0511:Chrna2 UTSW 14 66,386,553 (GRCm39) missense probably damaging 1.00
R0631:Chrna2 UTSW 14 66,386,757 (GRCm39) missense probably benign 0.45
R1205:Chrna2 UTSW 14 66,380,812 (GRCm39) missense probably benign 0.00
R1485:Chrna2 UTSW 14 66,380,812 (GRCm39) missense probably benign 0.00
R1487:Chrna2 UTSW 14 66,380,812 (GRCm39) missense probably benign 0.00
R1513:Chrna2 UTSW 14 66,380,878 (GRCm39) missense probably benign 0.13
R2023:Chrna2 UTSW 14 66,379,677 (GRCm39) missense probably benign 0.25
R2094:Chrna2 UTSW 14 66,386,912 (GRCm39) missense possibly damaging 0.65
R2964:Chrna2 UTSW 14 66,386,817 (GRCm39) missense possibly damaging 0.82
R2966:Chrna2 UTSW 14 66,386,817 (GRCm39) missense possibly damaging 0.82
R3118:Chrna2 UTSW 14 66,388,442 (GRCm39) missense probably damaging 0.98
R3931:Chrna2 UTSW 14 66,387,216 (GRCm39) missense probably benign 0.26
R3979:Chrna2 UTSW 14 66,386,402 (GRCm39) missense probably damaging 1.00
R3983:Chrna2 UTSW 14 66,386,906 (GRCm39) missense probably benign 0.00
R4080:Chrna2 UTSW 14 66,380,873 (GRCm39) nonsense probably null
R4080:Chrna2 UTSW 14 66,380,866 (GRCm39) missense probably benign 0.12
R4508:Chrna2 UTSW 14 66,383,902 (GRCm39) missense probably damaging 1.00
R4726:Chrna2 UTSW 14 66,386,345 (GRCm39) missense possibly damaging 0.85
R5349:Chrna2 UTSW 14 66,380,956 (GRCm39) missense probably damaging 0.99
R5787:Chrna2 UTSW 14 66,386,457 (GRCm39) missense probably benign 0.16
R6967:Chrna2 UTSW 14 66,388,398 (GRCm39) critical splice acceptor site probably null
R7218:Chrna2 UTSW 14 66,381,320 (GRCm39) splice site probably null
R7274:Chrna2 UTSW 14 66,386,675 (GRCm39) missense probably benign 0.03
R7565:Chrna2 UTSW 14 66,388,484 (GRCm39) missense probably benign
R7965:Chrna2 UTSW 14 66,388,525 (GRCm39) makesense probably null
R8337:Chrna2 UTSW 14 66,387,017 (GRCm39) nonsense probably null
R8955:Chrna2 UTSW 14 66,379,681 (GRCm39) missense probably benign 0.43
R9017:Chrna2 UTSW 14 66,386,282 (GRCm39) missense probably benign 0.40
Z1176:Chrna2 UTSW 14 66,386,753 (GRCm39) missense probably damaging 1.00
Z1177:Chrna2 UTSW 14 66,388,476 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- CTTGCCCTTGCTTGGATGAC -3'
(R):5'- CAGTCGTACTTCTTGCTGTTATAGG -3'

Sequencing Primer
(F):5'- GCTTGGATGACTCTACTTAGCCAG -3'
(R):5'- GCGTTGATAATGGCCCACTC -3'
Posted On 2015-10-08