Incidental Mutation 'IGL01797:Clcn2'
ID |
155395 |
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: 0.584)
|
Stock # |
IGL01797
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
20521714-20536496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20531511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 178
(I178V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122921
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007207]
[ENSMUST00000021405]
[ENSMUST00000120099]
[ENSMUST00000131522]
[ENSMUST00000232309]
|
AlphaFold |
Q9R0A1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007207
AA Change: I178V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000007207 Gene: ENSMUSG00000022843 AA Change: I178V
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: ENSMUST00000021405
|
SMART Domains |
Protein: ENSMUSP00000021405 Gene: ENSMUSG00000021018
Domain | Start | End | E-Value | Type |
RPOL8c
|
2 |
147 |
5.28e-93 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120099
AA Change: I178V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112759 Gene: ENSMUSG00000022843 AA Change: I178V
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 damaging
Transcript: ENSMUST00000131522
AA Change: I178V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122921 Gene: ENSMUSG00000022843 AA Change: I178V
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: ENSMUST00000131833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148131
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132512
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144400
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232309
AA Change: I134V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231381
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,113,760 (GRCm39) |
V877A |
probably benign |
Het |
Cnbp |
A |
G |
6: 87,822,542 (GRCm39) |
|
probably benign |
Het |
Coq8a |
A |
T |
1: 179,997,284 (GRCm39) |
|
probably null |
Het |
Dctn2 |
A |
G |
10: 127,113,182 (GRCm39) |
D244G |
possibly damaging |
Het |
Dync1h1 |
T |
A |
12: 110,618,630 (GRCm39) |
|
probably null |
Het |
Efcab15 |
T |
C |
11: 103,089,794 (GRCm39) |
Y381C |
probably damaging |
Het |
Faiml |
T |
C |
9: 99,116,442 (GRCm39) |
K83E |
probably damaging |
Het |
Fdx1 |
A |
T |
9: 51,854,925 (GRCm39) |
C159* |
probably null |
Het |
Fgd3 |
A |
T |
13: 49,443,065 (GRCm39) |
V169E |
probably damaging |
Het |
Ice1 |
G |
T |
13: 70,772,065 (GRCm39) |
T51K |
probably damaging |
Het |
Iqca1 |
A |
C |
1: 90,072,541 (GRCm39) |
|
probably null |
Het |
Jup |
C |
A |
11: 100,272,498 (GRCm39) |
|
probably benign |
Het |
Krt84 |
A |
G |
15: 101,436,915 (GRCm39) |
V373A |
possibly damaging |
Het |
Ndst4 |
T |
A |
3: 125,476,802 (GRCm39) |
M9K |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,706,086 (GRCm39) |
V480A |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,404,225 (GRCm39) |
H344R |
probably damaging |
Het |
Or13a21 |
A |
G |
7: 139,998,931 (GRCm39) |
Y252H |
probably damaging |
Het |
Or1e1f |
A |
T |
11: 73,855,644 (GRCm39) |
D70V |
probably damaging |
Het |
Pjvk |
T |
C |
2: 76,487,883 (GRCm39) |
|
probably benign |
Het |
Prkaa1 |
G |
A |
15: 5,198,187 (GRCm39) |
D159N |
probably damaging |
Het |
Sap130 |
T |
A |
18: 31,831,721 (GRCm39) |
I736N |
probably damaging |
Het |
Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
Tpp1 |
T |
C |
7: 105,398,459 (GRCm39) |
I286V |
probably benign |
Het |
Ttll5 |
T |
A |
12: 86,003,371 (GRCm39) |
I1069K |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,540,257 (GRCm39) |
E34243A |
possibly damaging |
Het |
Uqcr10 |
A |
C |
11: 4,654,179 (GRCm39) |
I43S |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 187,995,706 (GRCm39) |
M159K |
probably damaging |
Het |
Vmn2r121 |
G |
A |
X: 123,041,048 (GRCm39) |
|
probably benign |
Het |
Vmn2r30 |
T |
A |
7: 7,337,195 (GRCm39) |
D147V |
probably benign |
Het |
Xntrpc |
T |
C |
7: 101,739,753 (GRCm39) |
I559T |
possibly damaging |
Het |
Zfp268 |
T |
A |
4: 145,347,241 (GRCm39) |
N48K |
probably damaging |
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 |
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 |
2014-02-04 |