Incidental Mutation 'R5196:Chrna5'
| ID |
400254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrna5
|
| Ensembl Gene |
ENSMUSG00000035594 |
| Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 5 |
| Synonyms |
Acra-5, Acra5 |
| MMRRC Submission |
042772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R5196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
54888164-54915063 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54913803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 421
(I421V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034851]
[ENSMUST00000093844]
[ENSMUST00000213960]
[ENSMUST00000217408]
|
| AlphaFold |
Q2MKA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034851
|
| SMART Domains |
Protein: ENSMUSP00000034851
Gene: ENSMUSG00000032303
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
34 |
240 |
6.1e-77 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
494 |
7.5e-95 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093844
AA Change: I421V
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091365
Gene: ENSMUSG00000035594
AA Change: I421V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
18 |
221 |
4.9e-72 |
PFAM |
|
Pfam:Neur_chan_memb
|
228 |
352 |
1.9e-51 |
PFAM |
|
Pfam:Neur_chan_memb
|
338 |
417 |
1.2e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213960
AA Change: I450V
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217408
AA Change: I346V
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.2398 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are less sensitive to nicotine-induced seizures than wild-type controls and exhibit a significantly shorter latency time to seizure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,686,450 (GRCm39) |
T281A |
possibly damaging |
Het |
| 4930503B20Rik |
A |
G |
3: 146,352,018 (GRCm39) |
|
probably benign |
Het |
| 6330409D20Rik |
T |
A |
2: 32,630,552 (GRCm39) |
|
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Amigo2 |
A |
G |
15: 97,143,942 (GRCm39) |
F160S |
probably damaging |
Het |
| Arcn1 |
A |
T |
9: 44,671,324 (GRCm39) |
L68M |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,607,830 (GRCm39) |
S163T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,913,136 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,075,737 (GRCm39) |
I5V |
probably benign |
Het |
| Ccm2 |
G |
A |
11: 6,511,181 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,899,978 (GRCm39) |
V431A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,065,730 (GRCm39) |
M668K |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,729 (GRCm39) |
Y129C |
probably damaging |
Het |
| Clk1 |
T |
A |
1: 58,453,772 (GRCm39) |
T301S |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,744,260 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,302,006 (GRCm39) |
N183I |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,479,845 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
| Gm9847 |
T |
A |
12: 14,545,016 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
A |
G |
17: 36,343,499 (GRCm39) |
|
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,347,915 (GRCm39) |
E613G |
probably damaging |
Het |
| Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
| Klrb1c |
T |
A |
6: 128,757,262 (GRCm39) |
S268C |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,042,330 (GRCm39) |
E245G |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,240,889 (GRCm39) |
I220N |
probably damaging |
Het |
| Mfap3 |
A |
G |
11: 57,420,639 (GRCm39) |
T207A |
probably damaging |
Het |
| Mtdh |
G |
T |
15: 34,118,150 (GRCm39) |
K75N |
probably damaging |
Het |
| Mybpc1 |
A |
G |
10: 88,372,213 (GRCm39) |
Y806H |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,299 (GRCm39) |
D158G |
probably damaging |
Het |
| Odr4 |
T |
A |
1: 150,258,140 (GRCm39) |
D165V |
probably damaging |
Het |
| Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,650 (GRCm39) |
D87V |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,237,805 (GRCm39) |
|
probably benign |
Het |
| Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
| Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 78,291,626 (GRCm39) |
V333M |
probably benign |
Het |
| Pten |
A |
T |
19: 32,792,897 (GRCm39) |
M239L |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
| Reg2 |
T |
A |
6: 78,382,530 (GRCm39) |
L12* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc5a7 |
C |
A |
17: 54,588,750 (GRCm39) |
|
probably null |
Het |
| Tcaf3 |
G |
T |
6: 42,570,649 (GRCm39) |
R368S |
probably benign |
Het |
| Tfcp2 |
A |
G |
15: 100,418,595 (GRCm39) |
V189A |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,126,243 (GRCm39) |
S191G |
probably damaging |
Het |
| Zfp536 |
G |
A |
7: 37,180,185 (GRCm39) |
R807W |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Chrna5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Chrna5
|
APN |
9 |
54,911,683 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01503:Chrna5
|
APN |
9 |
54,905,455 (GRCm39) |
intron |
probably benign |
|
|
IGL01617:Chrna5
|
APN |
9 |
54,912,297 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01935:Chrna5
|
APN |
9 |
54,912,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02613:Chrna5
|
APN |
9 |
54,913,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03248:Chrna5
|
APN |
9 |
54,911,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Chrna5
|
APN |
9 |
54,911,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0712:Chrna5
|
UTSW |
9 |
54,911,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Chrna5
|
UTSW |
9 |
54,911,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1698:Chrna5
|
UTSW |
9 |
54,911,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Chrna5
|
UTSW |
9 |
54,911,935 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1800:Chrna5
|
UTSW |
9 |
54,912,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4028:Chrna5
|
UTSW |
9 |
54,905,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4030:Chrna5
|
UTSW |
9 |
54,905,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4031:Chrna5
|
UTSW |
9 |
54,905,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4201:Chrna5
|
UTSW |
9 |
54,905,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4792:Chrna5
|
UTSW |
9 |
54,911,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Chrna5
|
UTSW |
9 |
54,905,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5779:Chrna5
|
UTSW |
9 |
54,905,388 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6254:Chrna5
|
UTSW |
9 |
54,913,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6492:Chrna5
|
UTSW |
9 |
54,905,347 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6887:Chrna5
|
UTSW |
9 |
54,912,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6986:Chrna5
|
UTSW |
9 |
54,913,741 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7056:Chrna5
|
UTSW |
9 |
54,888,985 (GRCm39) |
intron |
probably benign |
|
|
R7222:Chrna5
|
UTSW |
9 |
54,905,347 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7384:Chrna5
|
UTSW |
9 |
54,912,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Chrna5
|
UTSW |
9 |
54,913,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Chrna5
|
UTSW |
9 |
54,909,718 (GRCm39) |
missense |
probably benign |
|
|
R7846:Chrna5
|
UTSW |
9 |
54,912,391 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8808:Chrna5
|
UTSW |
9 |
54,905,348 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8901:Chrna5
|
UTSW |
9 |
54,911,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9303:Chrna5
|
UTSW |
9 |
54,912,156 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9716:Chrna5
|
UTSW |
9 |
54,911,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Chrna5
|
UTSW |
9 |
54,911,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Chrna5
|
UTSW |
9 |
54,912,240 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGGGCATAGGAGACAGC -3'
(R):5'- GACAGTGTTGGTACTCAAGGC -3'
Sequencing Primer
(F):5'- GGAGACAGCAAATGATTATCTCTCTG -3'
(R):5'- CAGTGTTGGTACTCAAGGCTATTAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation