Incidental Mutation 'R4592:Clcn2'
ID |
342925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcn2
|
Ensembl Gene |
ENSMUSG00000022843 |
Gene Name |
chloride channel, voltage-sensitive 2 |
Synonyms |
nmf240, Clc2, ClC-2 |
MMRRC Submission |
041808-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.584)
|
Stock # |
R4592 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
20521714-20536496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20527892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 525
(K525E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007207]
[ENSMUST00000120099]
[ENSMUST00000131522]
[ENSMUST00000232309]
|
AlphaFold |
Q9R0A1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007207
AA Change: K569E
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000007207 Gene: ENSMUSG00000022843 AA Change: K569E
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 |
possibly damaging
Transcript: ENSMUST00000120099
AA Change: K552E
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112759 Gene: ENSMUSG00000022843 AA Change: K552E
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: 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: ENSMUST00000131833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132512
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148131
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153075
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232309
AA Change: K525E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231381
|
Meta Mutation Damage Score |
0.1496 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
A |
4: 62,457,164 (GRCm39) |
V161E |
possibly damaging |
Het |
Arhgap40 |
T |
C |
2: 158,388,629 (GRCm39) |
V521A |
possibly damaging |
Het |
Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
Casp12 |
T |
C |
9: 5,352,923 (GRCm39) |
|
probably benign |
Het |
Cenpf |
G |
A |
1: 189,411,230 (GRCm39) |
T318M |
probably damaging |
Het |
Cfap119 |
C |
T |
7: 127,184,663 (GRCm39) |
R172H |
probably benign |
Het |
Cntln |
A |
G |
4: 84,889,419 (GRCm39) |
T301A |
probably benign |
Het |
Crat |
T |
C |
2: 30,305,378 (GRCm39) |
|
probably benign |
Het |
Cul5 |
A |
G |
9: 53,545,027 (GRCm39) |
|
probably benign |
Het |
Cxcl14 |
A |
T |
13: 56,443,708 (GRCm39) |
I34N |
probably damaging |
Het |
Cyp2b19 |
A |
G |
7: 26,470,819 (GRCm39) |
I487V |
probably benign |
Het |
Cyp4a10 |
T |
A |
4: 115,386,690 (GRCm39) |
F446I |
probably damaging |
Het |
D430041D05Rik |
T |
A |
2: 104,063,824 (GRCm39) |
M659L |
possibly damaging |
Het |
Dclk3 |
T |
C |
9: 111,296,963 (GRCm39) |
F169S |
probably damaging |
Het |
Ddx52 |
T |
C |
11: 83,848,306 (GRCm39) |
I532T |
probably damaging |
Het |
Dnm1 |
T |
C |
2: 32,226,023 (GRCm39) |
D352G |
probably damaging |
Het |
Eif4g2 |
T |
C |
7: 110,677,509 (GRCm39) |
E174G |
probably damaging |
Het |
Enpp6 |
G |
T |
8: 47,546,067 (GRCm39) |
V386L |
probably damaging |
Het |
Entr1 |
C |
A |
2: 26,278,909 (GRCm39) |
|
probably benign |
Het |
Eps15l1 |
T |
C |
8: 73,095,238 (GRCm39) |
D904G |
probably damaging |
Het |
Esrrb |
A |
G |
12: 86,565,604 (GRCm39) |
Y356C |
probably damaging |
Het |
Flt3 |
A |
T |
5: 147,291,509 (GRCm39) |
S619T |
possibly damaging |
Het |
Fndc7 |
A |
T |
3: 108,766,218 (GRCm39) |
C716S |
probably damaging |
Het |
Gm26996 |
T |
A |
6: 130,556,448 (GRCm39) |
|
noncoding transcript |
Het |
Grik2 |
A |
T |
10: 49,298,711 (GRCm39) |
F50I |
possibly damaging |
Het |
Guf1 |
T |
C |
5: 69,723,786 (GRCm39) |
V367A |
possibly damaging |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Ifnar2 |
T |
C |
16: 91,188,684 (GRCm39) |
V55A |
probably benign |
Het |
Impg1 |
T |
A |
9: 80,322,907 (GRCm39) |
I33F |
probably benign |
Het |
Ltbp4 |
A |
C |
7: 27,024,608 (GRCm39) |
V674G |
probably damaging |
Het |
Mroh2b |
T |
A |
15: 4,947,772 (GRCm39) |
L529H |
probably damaging |
Het |
Negr1 |
T |
C |
3: 156,914,023 (GRCm39) |
|
probably benign |
Het |
Neurog3 |
A |
G |
10: 61,969,599 (GRCm39) |
T25A |
probably damaging |
Het |
Or10v1 |
T |
C |
19: 11,874,126 (GRCm39) |
V247A |
probably benign |
Het |
Or4a69 |
T |
A |
2: 89,313,100 (GRCm39) |
K126N |
probably damaging |
Het |
Or51h1 |
A |
C |
7: 102,308,685 (GRCm39) |
Y219S |
probably damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,455 (GRCm39) |
T160A |
probably benign |
Het |
Pax8 |
T |
A |
2: 24,333,201 (GRCm39) |
|
probably benign |
Het |
Pcsk6 |
A |
C |
7: 65,581,480 (GRCm39) |
I254L |
possibly damaging |
Het |
Pde3a |
A |
G |
6: 141,404,942 (GRCm39) |
K389R |
probably benign |
Het |
Rab3gap1 |
C |
A |
1: 127,852,996 (GRCm39) |
|
probably benign |
Het |
Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
Rptor |
A |
G |
11: 119,689,666 (GRCm39) |
D321G |
probably null |
Het |
Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
Skp1 |
T |
C |
11: 52,134,446 (GRCm39) |
I59T |
possibly damaging |
Het |
Slc23a3 |
T |
G |
1: 75,105,200 (GRCm39) |
N456T |
probably damaging |
Het |
Slc4a7 |
G |
A |
14: 14,778,850 (GRCm38) |
G920S |
probably damaging |
Het |
Smarcd3 |
T |
C |
5: 24,797,802 (GRCm39) |
I467V |
probably benign |
Het |
Spata31d1c |
C |
T |
13: 65,183,874 (GRCm39) |
A472V |
probably damaging |
Het |
Spmap1 |
A |
G |
11: 97,662,441 (GRCm39) |
S144P |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
Stom |
C |
T |
2: 35,213,758 (GRCm39) |
G80D |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,084,028 (GRCm39) |
Y1915N |
possibly damaging |
Het |
Tmf1 |
C |
T |
6: 97,150,361 (GRCm39) |
V449I |
probably benign |
Het |
Triobp |
C |
T |
15: 78,851,295 (GRCm39) |
A483V |
probably benign |
Het |
Vdac1 |
G |
A |
11: 52,265,799 (GRCm39) |
|
probably null |
Het |
Vmn2r75 |
T |
G |
7: 85,815,494 (GRCm39) |
E123D |
probably benign |
Het |
Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
Zdbf2 |
T |
G |
1: 63,345,750 (GRCm39) |
N1376K |
possibly damaging |
Het |
Zeb1os1 |
T |
C |
18: 5,525,375 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGAGGCCAACTACAGGACC -3'
(R):5'- AGACTGAGCATGGCTGTTCC -3'
Sequencing Primer
(F):5'- CAGGGTGAGGGCAGCTCTAATG -3'
(R):5'- AGCATGGCTGTTCCCAGGG -3'
|
Posted On |
2015-09-24 |