Incidental Mutation 'IGL00843:Clcn2'
| ID |
9726 |
| 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 # |
IGL00843
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20521714-20536496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20522391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 772
(T772A)
|
| 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 benign
Transcript: ENSMUST00000007207
AA Change: T816A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: T816A
| 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 benign
Transcript: ENSMUST00000120099
AA Change: T799A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: T799A
| 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: ENSMUST00000153075
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232309
AA Change: T772A
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap |
A |
G |
3: 88,291,657 (GRCm39) |
|
probably null |
Het |
| Bpnt2 |
T |
C |
4: 4,776,308 (GRCm39) |
|
probably benign |
Het |
| Cldn18 |
A |
T |
9: 99,580,874 (GRCm39) |
F125I |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,581,379 (GRCm39) |
S538P |
possibly damaging |
Het |
| Ets2 |
T |
G |
16: 95,510,837 (GRCm39) |
F32V |
probably benign |
Het |
| F5 |
G |
A |
1: 164,039,360 (GRCm39) |
R1990Q |
probably benign |
Het |
| Fetub |
A |
G |
16: 22,748,379 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,422,158 (GRCm39) |
E983K |
probably benign |
Het |
| Hemgn |
A |
G |
4: 46,396,240 (GRCm39) |
M332T |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,486,464 (GRCm39) |
I4314T |
possibly damaging |
Het |
| Lonrf2 |
C |
A |
1: 38,851,616 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,510,191 (GRCm39) |
I430T |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,641,261 (GRCm39) |
V1606A |
possibly damaging |
Het |
| Oog2 |
G |
T |
4: 143,921,742 (GRCm39) |
L217F |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,683,411 (GRCm39) |
H791R |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,860,884 (GRCm39) |
S802L |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,076,336 (GRCm39) |
L233Q |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,582,099 (GRCm39) |
V1337E |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,830,627 (GRCm39) |
M326K |
probably null |
Het |
| Slc25a54 |
A |
T |
3: 109,020,176 (GRCm39) |
T397S |
possibly damaging |
Het |
| Slfn3 |
C |
T |
11: 83,104,257 (GRCm39) |
T376M |
probably damaging |
Het |
| Stradb |
T |
A |
1: 59,033,568 (GRCm39) |
D410E |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,213 (GRCm39) |
T178A |
probably damaging |
Het |
| Tspan12 |
T |
A |
6: 21,851,081 (GRCm39) |
|
probably benign |
Het |
| Ube2b |
A |
T |
11: 51,886,202 (GRCm39) |
D50E |
probably benign |
Het |
| Zranb1 |
A |
C |
7: 132,551,622 (GRCm39) |
H117P |
probably benign |
Het |
|
| Other mutations in Clcn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02624:Clcn2
|
APN |
16 |
20,522,098 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2012-12-06 |
Incidental Mutation