Incidental Mutation 'IGL02624:Clcn2'
| ID |
301004 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clcn2
|
| Ensembl Gene |
ENSMUSG00000022843 |
| Gene Name |
chloride channel, voltage-sensitive 2 |
| Synonyms |
nmf240, Clc2, ClC-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.641)
|
| Stock # |
IGL02624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20521714-20536496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 20522098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 830
(S830R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007207]
[ENSMUST00000056518]
[ENSMUST00000118919]
[ENSMUST00000120099]
[ENSMUST00000128273]
[ENSMUST00000131522]
[ENSMUST00000232309]
[ENSMUST00000149543]
[ENSMUST00000232207]
|
| AlphaFold |
Q9R0A1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007207
AA Change: S874R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: S874R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
111 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
151 |
555 |
1.2e-94 |
PFAM |
|
Blast:CBS
|
595 |
644 |
3e-12 |
BLAST |
|
low complexity region
|
666 |
680 |
N/A |
INTRINSIC |
|
CBS
|
803 |
850 |
3.69e0 |
SMART |
|
low complexity region
|
869 |
881 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056518
|
| SMART Domains |
Protein: ENSMUSP00000060194
Gene: ENSMUSG00000050821
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
60 |
N/A |
INTRINSIC |
|
Pfam:FAM131
|
80 |
356 |
6.4e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118919
|
| SMART Domains |
Protein: ENSMUSP00000113719
Gene: ENSMUSG00000050821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM131
|
1 |
271 |
4e-119 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120099
AA Change: S857R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: S857R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
111 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
151 |
538 |
5.6e-77 |
PFAM |
|
Blast:CBS
|
578 |
627 |
4e-12 |
BLAST |
|
low complexity region
|
649 |
663 |
N/A |
INTRINSIC |
|
CBS
|
786 |
833 |
3.69e0 |
SMART |
|
low complexity region
|
852 |
864 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123417
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128273
|
| SMART Domains |
Protein: ENSMUSP00000120596
Gene: ENSMUSG00000050821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM131
|
1 |
202 |
4e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131522
|
| SMART Domains |
Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
111 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
151 |
473 |
4.2e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153075
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232309
AA Change: S830R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232207
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal brain morphology, male infertility, and abnormal eye morphology. [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 |
|---|
| A930004D18Rik |
A |
G |
2: 18,032,004 (GRCm39) |
V38A |
unknown |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Brk1 |
T |
G |
6: 113,581,805 (GRCm39) |
I22M |
possibly damaging |
Het |
| Cd3g |
A |
G |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
| Ces2g |
T |
C |
8: 105,691,380 (GRCm39) |
V172A |
probably damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,561,321 (GRCm39) |
S114G |
probably benign |
Het |
| Dnali1 |
T |
C |
4: 124,952,791 (GRCm39) |
Q244R |
probably benign |
Het |
| Entpd1 |
A |
T |
19: 40,714,502 (GRCm39) |
K204* |
probably null |
Het |
| Gm5070 |
A |
G |
3: 95,318,219 (GRCm39) |
|
noncoding transcript |
Het |
| Gpsm2 |
G |
T |
3: 108,589,349 (GRCm39) |
D596E |
probably benign |
Het |
| Hectd1 |
C |
T |
12: 51,809,233 (GRCm39) |
A1743T |
possibly damaging |
Het |
| Kcnq5 |
T |
G |
1: 21,472,654 (GRCm39) |
L845F |
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,408,291 (GRCm39) |
I1795N |
probably damaging |
Het |
| Lsp1 |
C |
T |
7: 142,044,288 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,277,185 (GRCm39) |
A213T |
possibly damaging |
Het |
| Mylk |
G |
T |
16: 34,750,266 (GRCm39) |
V1202L |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,848,010 (GRCm39) |
Y1083H |
probably damaging |
Het |
| Ncoa5 |
T |
A |
2: 164,854,981 (GRCm39) |
D47V |
probably damaging |
Het |
| Npat |
C |
T |
9: 53,478,110 (GRCm39) |
T954I |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,682 (GRCm39) |
T195A |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,130 (GRCm39) |
T10S |
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,024,276 (GRCm39) |
I428T |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,079,569 (GRCm39) |
F1211S |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,308,355 (GRCm39) |
E338G |
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,609,459 (GRCm39) |
Y192C |
probably damaging |
Het |
| Tex21 |
T |
A |
12: 76,261,398 (GRCm39) |
D250V |
probably damaging |
Het |
| Tpo |
A |
G |
12: 30,150,413 (GRCm39) |
V489A |
probably benign |
Het |
| Tspo |
T |
C |
15: 83,455,616 (GRCm39) |
M1T |
probably null |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,256,278 (GRCm39) |
G281D |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,304,085 (GRCm39) |
T1300A |
probably benign |
Het |
|
| Other mutations in Clcn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Clcn2
|
APN |
16 |
20,522,391 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01657:Clcn2
|
APN |
16 |
20,532,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01797:Clcn2
|
APN |
16 |
20,531,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02557:Clcn2
|
APN |
16 |
20,527,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02819:Clcn2
|
APN |
16 |
20,528,006 (GRCm39) |
nonsense |
probably null |
|
|
IGL03329:Clcn2
|
APN |
16 |
20,530,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bemr14
|
UTSW |
16 |
0 () |
unclassified |
|
|
|
R0008:Clcn2
|
UTSW |
16 |
20,529,140 (GRCm39) |
missense |
probably null |
1.00 |
|
R0454:Clcn2
|
UTSW |
16 |
20,529,178 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1101:Clcn2
|
UTSW |
16 |
20,522,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Clcn2
|
UTSW |
16 |
20,531,302 (GRCm39) |
splice site |
probably benign |
|
|
R1824:Clcn2
|
UTSW |
16 |
20,534,712 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4592:Clcn2
|
UTSW |
16 |
20,527,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5011:Clcn2
|
UTSW |
16 |
20,525,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Clcn2
|
UTSW |
16 |
20,525,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Clcn2
|
UTSW |
16 |
20,522,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5374:Clcn2
|
UTSW |
16 |
20,528,419 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5726:Clcn2
|
UTSW |
16 |
20,529,285 (GRCm39) |
intron |
probably benign |
|
|
R5787:Clcn2
|
UTSW |
16 |
20,522,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Clcn2
|
UTSW |
16 |
20,532,404 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6045:Clcn2
|
UTSW |
16 |
20,530,438 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6663:Clcn2
|
UTSW |
16 |
20,521,995 (GRCm39) |
makesense |
probably null |
|
|
R6765:Clcn2
|
UTSW |
16 |
20,526,418 (GRCm39) |
splice site |
probably null |
|
|
R6825:Clcn2
|
UTSW |
16 |
20,528,408 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7872:Clcn2
|
UTSW |
16 |
20,527,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8028:Clcn2
|
UTSW |
16 |
20,527,512 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8198:Clcn2
|
UTSW |
16 |
20,525,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8805:Clcn2
|
UTSW |
16 |
20,532,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Clcn2
|
UTSW |
16 |
20,530,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Clcn2
|
UTSW |
16 |
20,531,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Clcn2
|
UTSW |
16 |
20,531,414 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9101:Clcn2
|
UTSW |
16 |
20,525,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9456:Clcn2
|
UTSW |
16 |
20,534,702 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation