Incidental Mutation 'IGL03391:Chrnb2'
| ID |
421076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chrnb2
|
| Ensembl Gene |
ENSMUSG00000027950 |
| Gene Name |
cholinergic receptor nicotinic beta 2 subunit |
| Synonyms |
C030030P04Rik, Acrb2, [b]2-nAchR, Acrb-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
IGL03391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89660755-89671939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89668184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 377
(F377S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029562]
[ENSMUST00000200558]
|
| AlphaFold |
Q9ERK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029562
AA Change: F377S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
AA Change: F377S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
29 |
234 |
5.6e-75 |
PFAM |
|
Pfam:Neur_chan_memb
|
241 |
477 |
1.7e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199372
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200558
AA Change: F377S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: F377S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
29 |
234 |
1.5e-71 |
PFAM |
|
Pfam:Neur_chan_memb
|
241 |
454 |
4.8e-61 |
PFAM |
|
low complexity region
|
657 |
666 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have impaired responses to nicotine, but show improved passive avoidance behavior. With age, mutants show more neurodegeneration and alterations of the visual system, with decreased cortical visual acuity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,107 (GRCm39) |
D586G |
probably damaging |
Het |
| Acadvl |
A |
C |
11: 69,901,542 (GRCm39) |
M557R |
probably damaging |
Het |
| Ano2 |
T |
A |
6: 125,784,802 (GRCm39) |
N327K |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,400,655 (GRCm39) |
D104E |
possibly damaging |
Het |
| Cngb1 |
T |
C |
8: 96,030,333 (GRCm39) |
|
probably benign |
Het |
| Dnaaf1 |
C |
T |
8: 120,309,355 (GRCm39) |
R148C |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,882,420 (GRCm39) |
I226F |
possibly damaging |
Het |
| Evl |
C |
A |
12: 108,642,358 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
C |
19: 55,070,128 (GRCm39) |
E376G |
probably damaging |
Het |
| Gzf1 |
C |
A |
2: 148,525,603 (GRCm39) |
R25S |
probably damaging |
Het |
| Ighv5-2 |
A |
T |
12: 113,542,138 (GRCm39) |
Y113* |
probably null |
Het |
| Izumo4 |
A |
G |
10: 80,540,947 (GRCm39) |
T216A |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 41,185,653 (GRCm39) |
Y1354S |
possibly damaging |
Het |
| Mark1 |
A |
G |
1: 184,651,632 (GRCm39) |
|
probably benign |
Het |
| Mylpf |
A |
G |
7: 126,812,349 (GRCm39) |
I17V |
probably benign |
Het |
| Myo18b |
C |
A |
5: 113,022,345 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
T |
12: 13,533,750 (GRCm39) |
A1795V |
probably benign |
Het |
| Oprm1 |
A |
C |
10: 6,964,077 (GRCm39) |
|
probably benign |
Het |
| Or2ag15 |
A |
T |
7: 106,340,962 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,563,483 (GRCm39) |
M272V |
probably benign |
Het |
| Or5w1 |
A |
G |
2: 87,487,032 (GRCm39) |
S78P |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,640 (GRCm39) |
M443V |
probably benign |
Het |
| Psca |
T |
C |
15: 74,586,717 (GRCm39) |
F5S |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,514,031 (GRCm39) |
Y514* |
probably null |
Het |
| Scg3 |
A |
G |
9: 75,568,533 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
C |
2: 65,594,557 (GRCm39) |
V1802A |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,072 (GRCm39) |
S280P |
possibly damaging |
Het |
| Slc39a14 |
T |
C |
14: 70,547,291 (GRCm39) |
I352V |
probably damaging |
Het |
| Slc6a2 |
G |
T |
8: 93,688,080 (GRCm39) |
V69L |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,740,067 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,964,717 (GRCm39) |
D818G |
probably damaging |
Het |
| Tnfaip8 |
T |
C |
18: 50,223,552 (GRCm39) |
V120A |
probably damaging |
Het |
| Trmt5 |
G |
A |
12: 73,328,226 (GRCm39) |
H326Y |
probably benign |
Het |
| Vmn1r222 |
T |
C |
13: 23,416,632 (GRCm39) |
M194V |
possibly damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,194,069 (GRCm39) |
E699G |
probably damaging |
Het |
|
| Other mutations in Chrnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03108:Chrnb2
|
APN |
3 |
89,670,681 (GRCm39) |
splice site |
probably benign |
|
|
IGL03117:Chrnb2
|
APN |
3 |
89,670,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Chrnb2
|
UTSW |
3 |
89,671,713 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R0131:Chrnb2
|
UTSW |
3 |
89,671,713 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R0132:Chrnb2
|
UTSW |
3 |
89,671,713 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R1726:Chrnb2
|
UTSW |
3 |
89,668,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Chrnb2
|
UTSW |
3 |
89,668,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2124:Chrnb2
|
UTSW |
3 |
89,676,648 (GRCm39) |
unclassified |
probably benign |
|
|
R3548:Chrnb2
|
UTSW |
3 |
89,668,898 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4212:Chrnb2
|
UTSW |
3 |
89,668,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Chrnb2
|
UTSW |
3 |
89,668,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6307:Chrnb2
|
UTSW |
3 |
89,668,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Chrnb2
|
UTSW |
3 |
89,668,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Chrnb2
|
UTSW |
3 |
89,668,622 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7318:Chrnb2
|
UTSW |
3 |
89,670,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7826:Chrnb2
|
UTSW |
3 |
89,670,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Chrnb2
|
UTSW |
3 |
89,668,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Chrnb2
|
UTSW |
3 |
89,668,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Chrnb2
|
UTSW |
3 |
89,654,630 (GRCm39) |
missense |
unknown |
|
|
R8739:Chrnb2
|
UTSW |
3 |
89,669,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Chrnb2
|
UTSW |
3 |
89,664,457 (GRCm39) |
missense |
probably benign |
|
|
R8969:Chrnb2
|
UTSW |
3 |
89,664,532 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9054:Chrnb2
|
UTSW |
3 |
89,664,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9204:Chrnb2
|
UTSW |
3 |
89,668,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation