Incidental Mutation 'R2966:Chrna2'
ID 264680
Institutional Source Beutler Lab
Gene Symbol Chrna2
Ensembl Gene ENSMUSG00000022041
Gene Name cholinergic receptor nicotinic alpha 2 subunit
Synonyms Acra-2, Acra2
MMRRC Submission 040522-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2966 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 66372488-66390397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66386817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 321 (V321A)
Ref Sequence ENSEMBL: ENSMUSP00000145896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022620] [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000111121] [ENSMUST00000206455] [ENSMUST00000178730]
AlphaFold Q91X60
Predicted Effect possibly damaging
Transcript: ENSMUST00000022620
AA Change: V321A

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041
AA Change: V321A

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 probably benign
Transcript: ENSMUST00000111121
SMART Domains Protein: ENSMUSP00000106750
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 866 1004 1.1e-67 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 possibly damaging
Transcript: ENSMUST00000206455
AA Change: V321A

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
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
Meta Mutation Damage Score 0.3466 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Adamts1 A G 16: 85,593,662 (GRCm39) V691A possibly damaging Het
Add1 C A 5: 34,788,058 (GRCm39) D702E probably benign Het
Ap1s1 T C 5: 137,066,357 (GRCm39) D148G probably damaging Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Atp11a A T 8: 12,897,853 (GRCm39) probably null Het
Atp8a1 T C 5: 67,805,049 (GRCm39) D1022G probably benign Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Bnc2 G A 4: 84,211,754 (GRCm39) A300V probably benign Het
Cep250 A G 2: 155,836,798 (GRCm39) K2256E probably benign Het
Cfap300 C T 9: 8,027,175 (GRCm39) R121Q probably damaging Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Col2a1 A G 15: 97,873,976 (GRCm39) I1402T unknown Het
Ddx43 C A 9: 78,313,661 (GRCm39) Y197* probably null Het
Dyrk2 T A 10: 118,696,242 (GRCm39) K339* probably null Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fgd6 T A 10: 93,880,056 (GRCm39) F303L probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gabra5 T C 7: 57,058,389 (GRCm39) E453G probably damaging Het
Gatd1 T A 7: 140,989,080 (GRCm39) D193V probably damaging Het
Gm6871 T G 7: 41,222,864 (GRCm39) T75P probably benign Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Has2 A G 15: 56,545,533 (GRCm39) L23P probably damaging Het
Lrriq1 A G 10: 103,050,761 (GRCm39) S664P probably benign Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mgam T C 6: 40,745,154 (GRCm39) V1807A possibly damaging Het
Myh1 A G 11: 67,105,410 (GRCm39) K1067E probably damaging Het
Nav2 C T 7: 49,206,780 (GRCm39) T1535I probably damaging Het
Noa1 T C 5: 77,454,191 (GRCm39) E483G possibly damaging Het
Nsd2 G C 5: 34,003,466 (GRCm39) E205D probably benign Het
Pclo T C 5: 14,731,164 (GRCm39) L3222P unknown Het
Pnpla2 C T 7: 141,038,391 (GRCm39) L215F probably damaging Het
Prss35 A G 9: 86,637,635 (GRCm39) D135G probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rab21 T C 10: 115,130,814 (GRCm39) N164S probably benign Het
Rasal1 T A 5: 120,809,685 (GRCm39) L530Q probably damaging Het
Rbm15b A G 9: 106,762,791 (GRCm39) L459P probably damaging Het
Recql A G 6: 142,309,313 (GRCm39) V586A probably benign Het
Rprd2 A T 3: 95,673,745 (GRCm39) probably null Het
Sis T A 3: 72,796,343 (GRCm39) I1813L probably benign Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Sympk T C 7: 18,764,469 (GRCm39) V58A probably damaging Het
Trav7d-4 C T 14: 53,007,584 (GRCm39) Q26* probably null Het
Usp48 G A 4: 137,341,073 (GRCm39) V358M probably damaging Het
Vmn1r39 A C 6: 66,781,715 (GRCm39) I201S possibly damaging Het
Zcchc8 A G 5: 123,858,930 (GRCm39) S22P probably benign 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
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
R4661:Chrna2 UTSW 14 66,386,292 (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'- ACTACTTCGTTATCCGCCGG -3'
(R):5'- GATAAGTGGGGCTGAGCTTC -3'

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