Incidental Mutation 'R5094:Chrnb4'
| ID |
387990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrnb4
|
| Ensembl Gene |
ENSMUSG00000035200 |
| Gene Name |
cholinergic receptor, nicotinic, beta polypeptide 4 |
| Synonyms |
Acrb-4, Acrb4 |
| MMRRC Submission |
042683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5094 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
54935438-54956063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54942597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 226
(I226V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034854]
|
| AlphaFold |
Q8R493 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034854
AA Change: I226V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034854
Gene: ENSMUSG00000035200
AA Change: I226V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
26 |
231 |
3.2e-70 |
PFAM |
|
Pfam:Neur_chan_memb
|
238 |
481 |
6.1e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217609
|
| Meta Mutation Damage Score |
0.0753 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
91% (40/44) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in hyperplasia of the bladder and altered bladder contractility. Mutant mice also exhibit a resistance to nicotine-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
T |
15: 81,946,883 (GRCm39) |
G260V |
possibly damaging |
Het |
| Agap3 |
T |
C |
5: 24,656,319 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,709,296 (GRCm39) |
S1173P |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,532,033 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
G |
A |
15: 22,714,625 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,402,892 (GRCm39) |
K2274E |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,734,861 (GRCm39) |
|
probably benign |
Het |
| Chat |
T |
A |
14: 32,130,896 (GRCm39) |
I582F |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,981,730 (GRCm39) |
T139A |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,502,570 (GRCm39) |
F712S |
probably benign |
Het |
| Fgfr1 |
C |
T |
8: 26,060,181 (GRCm39) |
S524L |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,306 (GRCm39) |
E208G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,375 (GRCm39) |
D706V |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,865,443 (GRCm39) |
V639D |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,893 (GRCm39) |
F1497S |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,293,554 (GRCm39) |
D612G |
probably benign |
Het |
| Ifit3b |
T |
A |
19: 34,589,948 (GRCm39) |
S375T |
possibly damaging |
Het |
| Mucl1 |
A |
G |
15: 103,785,669 (GRCm39) |
S13P |
possibly damaging |
Het |
| Or5w12 |
C |
T |
2: 87,502,174 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,384 (GRCm39) |
Y149F |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,374,081 (GRCm39) |
Y78* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,441 (GRCm39) |
V263A |
probably benign |
Het |
| Pfdn2 |
T |
A |
1: 171,184,067 (GRCm39) |
|
probably benign |
Het |
| Phip |
C |
T |
9: 82,753,897 (GRCm39) |
V1616I |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,484,123 (GRCm39) |
S457G |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,810,044 (GRCm39) |
S97P |
probably benign |
Het |
| Slc22a6 |
T |
C |
19: 8,603,541 (GRCm39) |
L535P |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,315,624 (GRCm39) |
T548A |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,291,211 (GRCm39) |
S346C |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,852,858 (GRCm39) |
|
probably null |
Het |
| Tlcd2 |
T |
C |
11: 75,360,640 (GRCm39) |
S228P |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,793,001 (GRCm39) |
L411P |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,611,872 (GRCm39) |
V170A |
probably benign |
Het |
|
| Other mutations in Chrnb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Chrnb4
|
APN |
9 |
54,943,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Chrnb4
|
APN |
9 |
54,942,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03242:Chrnb4
|
APN |
9 |
54,942,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Chrnb4
|
UTSW |
9 |
54,942,878 (GRCm39) |
missense |
probably benign |
|
|
R0735:Chrnb4
|
UTSW |
9 |
54,951,084 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1843:Chrnb4
|
UTSW |
9 |
54,942,102 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1975:Chrnb4
|
UTSW |
9 |
54,942,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2204:Chrnb4
|
UTSW |
9 |
54,951,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2427:Chrnb4
|
UTSW |
9 |
54,942,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3876:Chrnb4
|
UTSW |
9 |
54,951,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Chrnb4
|
UTSW |
9 |
54,942,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5507:Chrnb4
|
UTSW |
9 |
54,942,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Chrnb4
|
UTSW |
9 |
54,942,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7556:Chrnb4
|
UTSW |
9 |
54,942,339 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8399:Chrnb4
|
UTSW |
9 |
54,951,107 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9140:Chrnb4
|
UTSW |
9 |
54,941,955 (GRCm39) |
missense |
|
|
|
R9352:Chrnb4
|
UTSW |
9 |
54,951,167 (GRCm39) |
missense |
probably benign |
0.07 |
|
X0062:Chrnb4
|
UTSW |
9 |
54,941,964 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACGATCTTGGAGATGAG -3'
(R):5'- GTGCCTGCAAGATAGAGGTG -3'
Sequencing Primer
(F):5'- CGATCTTGGAGATGAGCAGCAG -3'
(R):5'- GATAGAGGTGAAGCACTTTCCCTTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation