Incidental Mutation 'R5614:Chrne'
| ID |
438155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chrne
|
| Ensembl Gene |
ENSMUSG00000014609 |
| Gene Name |
cholinergic receptor, nicotinic, epsilon polypeptide |
| Synonyms |
AChrepsilon, Acre |
| MMRRC Submission |
043275-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70505709-70510042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70505879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 469
(V469I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014753]
[ENSMUST00000072237]
[ENSMUST00000072873]
[ENSMUST00000079244]
[ENSMUST00000102556]
[ENSMUST00000102558]
[ENSMUST00000102559]
[ENSMUST00000135865]
[ENSMUST00000144960]
[ENSMUST00000180052]
|
| AlphaFold |
P20782 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014753
AA Change: V469I
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609
AA Change: V469I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
24 |
240 |
2.9e-65 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
475 |
6.5e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072237
|
| SMART Domains |
Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
|
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
|
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
874 |
N/A |
INTRINSIC |
|
CNH
|
1026 |
1324 |
1.58e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072873
|
| SMART Domains |
Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
|
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
|
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
853 |
N/A |
INTRINSIC |
|
CNH
|
1019 |
1317 |
1.58e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079244
|
| SMART Domains |
Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
|
low complexity region
|
314 |
338 |
N/A |
INTRINSIC |
|
coiled coil region
|
348 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
850 |
N/A |
INTRINSIC |
|
CNH
|
1016 |
1314 |
1.58e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102556
AA Change: V468I
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609
AA Change: V468I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
24 |
240 |
5.4e-65 |
PFAM |
|
Pfam:Neur_chan_memb
|
247 |
474 |
2.9e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102558
|
| SMART Domains |
Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
|
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
|
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
816 |
N/A |
INTRINSIC |
|
CNH
|
982 |
1280 |
1.58e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102559
|
| SMART Domains |
Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.86e-91 |
SMART |
|
low complexity region
|
307 |
338 |
N/A |
INTRINSIC |
|
coiled coil region
|
351 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
824 |
N/A |
INTRINSIC |
|
CNH
|
990 |
1288 |
1.58e-113 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135865
|
| SMART Domains |
Protein: ENSMUSP00000135933
Gene: ENSMUSG00000087279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144960
|
| SMART Domains |
Protein: ENSMUSP00000136077
Gene: ENSMUSG00000087279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
130 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136663
|
| SMART Domains |
Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
140 |
2.3e-22 |
PFAM |
|
Pfam:Pkinase
|
1 |
143 |
1.6e-30 |
PFAM |
|
low complexity region
|
161 |
192 |
N/A |
INTRINSIC |
|
coiled coil region
|
204 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
592 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
728 |
N/A |
INTRINSIC |
|
CNH
|
880 |
1178 |
1.58e-113 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180052
|
| SMART Domains |
Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
130 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: This gene encodes the epsilon subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. In mice, deficiency of this gene can lead to a decline in the number of nicotinic acetylcholine receptors at neuromuscular junctions and causes progressive muscle weakness, atrophy and premature death. Mutations in this gene serve as a pathophysiological model for human congenital myasthenia. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced AChR receptor density at neuromuscular synapses, impaired neuromuscular transmission, progressive muscular weakness and atrophy, and lethality at 2-3 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
| Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
| Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,794,836 (GRCm39) |
I254M |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,643,217 (GRCm39) |
I42N |
probably damaging |
Het |
| Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,148,981 (GRCm39) |
V157E |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,573,543 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
| Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
| Iqca1l |
G |
A |
5: 24,755,140 (GRCm39) |
A330V |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
| Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,234,401 (GRCm39) |
F289I |
probably benign |
Het |
| Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
| Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
| Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Sec24c |
T |
A |
14: 20,732,806 (GRCm39) |
V123E |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
| Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Tmem67 |
C |
A |
4: 12,061,755 (GRCm39) |
K572N |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
| Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,804,729 (GRCm39) |
F475L |
possibly damaging |
Het |
|
| Other mutations in Chrne |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Chrne
|
APN |
11 |
70,506,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00950:Chrne
|
APN |
11 |
70,509,983 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01875:Chrne
|
APN |
11 |
70,509,498 (GRCm39) |
splice site |
probably null |
|
|
IGL03201:Chrne
|
APN |
11 |
70,509,338 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03303:Chrne
|
APN |
11 |
70,505,926 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
pip-squeak
|
UTSW |
11 |
70,505,956 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0419:Chrne
|
UTSW |
11 |
70,506,549 (GRCm39) |
missense |
probably benign |
|
|
R0848:Chrne
|
UTSW |
11 |
70,506,239 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1378:Chrne
|
UTSW |
11 |
70,505,956 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1623:Chrne
|
UTSW |
11 |
70,509,254 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2170:Chrne
|
UTSW |
11 |
70,509,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Chrne
|
UTSW |
11 |
70,506,086 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3945:Chrne
|
UTSW |
11 |
70,507,869 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4612:Chrne
|
UTSW |
11 |
70,507,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4923:Chrne
|
UTSW |
11 |
70,506,101 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5172:Chrne
|
UTSW |
11 |
70,506,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5288:Chrne
|
UTSW |
11 |
70,505,913 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5384:Chrne
|
UTSW |
11 |
70,505,913 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7443:Chrne
|
UTSW |
11 |
70,509,092 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8733:Chrne
|
UTSW |
11 |
70,507,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9668:Chrne
|
UTSW |
11 |
70,507,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCCTGAGGAGTTGGAC -3'
(R):5'- TGAACTTTGTGGCTGAGAGC -3'
Sequencing Primer
(F):5'- GAGTTGGACCCACCCACATG -3'
(R):5'- ACAAGAGACCAGGAAGCCACTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation