Incidental Mutation 'R3983:Chrna2'
| ID |
350708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrna2
|
| Ensembl Gene |
ENSMUSG00000022041 |
| Gene Name |
cholinergic receptor nicotinic alpha 2 subunit |
| Synonyms |
Acra-2, Acra2 |
| MMRRC Submission |
040944-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3983 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
66372488-66390397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 66386906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 351
(V351L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022620]
[ENSMUST00000022622]
[ENSMUST00000089250]
[ENSMUST00000111121]
[ENSMUST00000178730]
[ENSMUST00000206455]
|
| AlphaFold |
Q91X60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022620
AA Change: V351L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022620
Gene: ENSMUSG00000022041
AA Change: V351L
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000206455
AA Change: V351L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.1422 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,467,220 (GRCm39) |
N138Y |
possibly damaging |
Het |
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,644,713 (GRCm39) |
I821V |
probably benign |
Het |
| Adam34 |
G |
A |
8: 44,103,806 (GRCm39) |
T613I |
probably benign |
Het |
| Ap2b1 |
C |
T |
11: 83,281,542 (GRCm39) |
T816M |
probably damaging |
Het |
| Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,770,539 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
| Cyp2c50 |
A |
C |
19: 40,101,962 (GRCm39) |
K400T |
possibly damaging |
Het |
| Cyp2c54 |
G |
T |
19: 40,034,699 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Dcpp2 |
T |
A |
17: 24,119,547 (GRCm39) |
Y120* |
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,441,125 (GRCm39) |
R242W |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,272,871 (GRCm39) |
V2333E |
possibly damaging |
Het |
| Duxf4 |
T |
A |
10: 58,071,623 (GRCm39) |
N197I |
possibly damaging |
Het |
| Eno3 |
T |
A |
11: 70,552,237 (GRCm39) |
F296L |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
| Gdap1 |
T |
G |
1: 17,230,131 (GRCm39) |
|
probably benign |
Het |
| Gm1587 |
C |
T |
14: 78,032,283 (GRCm39) |
E118K |
unknown |
Het |
| Gprin3 |
T |
C |
6: 59,331,545 (GRCm39) |
E254G |
possibly damaging |
Het |
| Hcrt |
G |
A |
11: 100,652,679 (GRCm39) |
R112C |
probably damaging |
Het |
| Hoxa4 |
A |
T |
6: 52,167,657 (GRCm39) |
Y175N |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,118,957 (GRCm39) |
G504R |
probably damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,485,823 (GRCm39) |
R325G |
possibly damaging |
Het |
| Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,559,042 (GRCm39) |
P1522L |
possibly damaging |
Het |
| Kmt2d |
T |
G |
15: 98,743,927 (GRCm39) |
|
probably benign |
Het |
| Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Msr1 |
A |
G |
8: 40,073,059 (GRCm39) |
V164A |
possibly damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,337,996 (GRCm39) |
V646A |
probably damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,965,714 (GRCm39) |
K1175N |
probably benign |
Het |
| Myo1c |
T |
A |
11: 75,552,325 (GRCm39) |
L366Q |
probably benign |
Het |
| Or12d15 |
T |
C |
17: 37,694,289 (GRCm39) |
V277A |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,376,961 (GRCm39) |
S230P |
possibly damaging |
Het |
| Or6f1 |
A |
G |
7: 85,970,942 (GRCm39) |
Y73H |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,876,940 (GRCm39) |
T29A |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,692,405 (GRCm39) |
E563G |
possibly damaging |
Het |
| Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
| Rnf44 |
A |
C |
13: 54,830,961 (GRCm39) |
S98R |
probably damaging |
Het |
| Samhd1 |
C |
A |
2: 156,965,369 (GRCm39) |
V149L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,238,644 (GRCm39) |
N214K |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,591 (GRCm39) |
N813S |
probably benign |
Het |
| Sirt3 |
A |
T |
7: 140,458,025 (GRCm39) |
C41* |
probably null |
Het |
| Speg |
C |
A |
1: 75,399,191 (GRCm39) |
P2213T |
probably benign |
Het |
| Srcin1 |
T |
G |
11: 97,416,379 (GRCm39) |
E951A |
probably damaging |
Het |
| Syn2 |
C |
G |
6: 115,214,259 (GRCm39) |
T161S |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,649 (GRCm39) |
T326A |
probably benign |
Het |
| Tcstv2a |
G |
T |
13: 120,725,815 (GRCm39) |
A160S |
possibly damaging |
Het |
| Tes |
T |
A |
6: 17,099,700 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,553,030 (GRCm39) |
T354A |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,632,705 (GRCm39) |
S12370R |
possibly damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,758 (GRCm39) |
T91A |
probably benign |
Het |
| Vmn1r181 |
C |
T |
7: 23,684,234 (GRCm39) |
T233I |
probably benign |
Het |
| Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly damaging |
Het |
| Zfp740 |
G |
T |
15: 102,116,678 (GRCm39) |
C56F |
probably benign |
Het |
|
| Other mutations in Chrna2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- AGATCACGCTGTGCATCTCG -3'
(R):5'- GAGGCCTGCACACATACATATG -3'
Sequencing Primer
(F):5'- TGCTGCTCATCACAGAAATTATCC -3'
(R):5'- AGGCCTGCACACATACATATGTTTTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation