Incidental Mutation 'R6663:Clcn2'
| ID |
526890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn2
|
| Ensembl Gene |
ENSMUSG00000022843 |
| Gene Name |
chloride channel, voltage-sensitive 2 |
| Synonyms |
ClC-2, nmf240, Clc2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Is this an essential gene? |
Possibly essential
(E-score: 0.549)
|
| Stock # |
R6663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20702964-20717746 bp(-) (GRCm38) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 20703245 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 865
(*865R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007207]
[ENSMUST00000056518]
[ENSMUST00000118919]
[ENSMUST00000120099]
[ENSMUST00000128273]
[ENSMUST00000131522]
[ENSMUST00000149543]
[ENSMUST00000232309]
[ENSMUST00000232207]
|
| AlphaFold |
Q9R0A1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000007207
AA Change: *909R
|
| SMART Domains |
Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: *909R
| 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 null
Transcript: ENSMUST00000120099
AA Change: *892R
|
| SMART Domains |
Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: *892R
| 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: ENSMUST00000144400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148131
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153075
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232309
AA Change: *865R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232207
|
| Meta Mutation Damage Score |
0.8665 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
G |
5: 90,264,064 |
S1314P |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,279,083 |
I59K |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,820,059 |
Q749R |
unknown |
Het |
| Cpsf2 |
T |
C |
12: 101,999,593 |
Y606H |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,675,740 |
V154A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,485,847 |
E23V |
probably damaging |
Het |
| Cyp2j9 |
C |
A |
4: 96,579,442 |
W269L |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,403,184 |
M273V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,685,692 |
|
probably null |
Het |
| Fezf1 |
A |
G |
6: 23,247,528 |
S183P |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,629,129 |
Y23C |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 114,974,105 |
N983K |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 33,881,456 |
|
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,361,361 |
N309S |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,664,116 |
|
probably null |
Het |
| Map1b |
T |
C |
13: 99,430,022 |
T2064A |
unknown |
Het |
| Mark3 |
T |
A |
12: 111,575,083 |
N11K |
probably benign |
Het |
| Med6 |
T |
A |
12: 81,581,875 |
D80V |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 35,589,118 |
E249G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,947,935 |
I1256M |
probably benign |
Het |
| Nkx2-9 |
G |
T |
12: 56,611,938 |
R164S |
probably benign |
Het |
| Olfr1181 |
T |
A |
2: 88,423,350 |
N225I |
probably benign |
Het |
| Phf10 |
T |
C |
17: 14,959,512 |
D33G |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,577,290 |
M719V |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,343,696 |
|
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,455,101 |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 38,954,136 |
L99P |
probably damaging |
Het |
| Tbccd1 |
AT |
ATGT |
16: 22,834,028 |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,198 |
S157L |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,933 |
T300A |
possibly damaging |
Het |
| Zfp668 |
G |
A |
7: 127,867,769 |
R212C |
probably damaging |
Het |
| Zufsp |
A |
G |
10: 33,949,435 |
M17T |
possibly damaging |
Het |
|
| Other mutations in Clcn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Clcn2
|
APN |
16 |
20703641 |
missense |
probably benign |
0.08 |
|
IGL01657:Clcn2
|
APN |
16 |
20713619 |
missense |
probably damaging |
1.00 |
|
IGL01797:Clcn2
|
APN |
16 |
20712761 |
missense |
probably damaging |
1.00 |
|
IGL02557:Clcn2
|
APN |
16 |
20708464 |
missense |
probably damaging |
1.00 |
|
IGL02624:Clcn2
|
APN |
16 |
20703348 |
missense |
probably damaging |
0.98 |
|
IGL02819:Clcn2
|
APN |
16 |
20709256 |
nonsense |
probably null |
|
|
IGL03329:Clcn2
|
APN |
16 |
20712152 |
missense |
probably damaging |
1.00 |
|
Bemr14
|
UTSW |
16 |
|
unclassified |
|
|
|
R0008:Clcn2
|
UTSW |
16 |
20710390 |
missense |
probably null |
1.00 |
|
R0454:Clcn2
|
UTSW |
16 |
20710428 |
critical splice acceptor site |
probably null |
|
|
R1101:Clcn2
|
UTSW |
16 |
20703595 |
missense |
probably damaging |
1.00 |
|
R1466:Clcn2
|
UTSW |
16 |
20712552 |
splice site |
probably benign |
|
|
R1824:Clcn2
|
UTSW |
16 |
20715962 |
missense |
probably benign |
0.04 |
|
R4592:Clcn2
|
UTSW |
16 |
20709142 |
missense |
probably damaging |
0.99 |
|
R5011:Clcn2
|
UTSW |
16 |
20707215 |
missense |
probably damaging |
1.00 |
|
R5013:Clcn2
|
UTSW |
16 |
20707215 |
missense |
probably damaging |
1.00 |
|
R5154:Clcn2
|
UTSW |
16 |
20703303 |
missense |
probably benign |
0.01 |
|
R5374:Clcn2
|
UTSW |
16 |
20709669 |
missense |
possibly damaging |
0.78 |
|
R5726:Clcn2
|
UTSW |
16 |
20710535 |
intron |
probably benign |
|
|
R5787:Clcn2
|
UTSW |
16 |
20703433 |
missense |
probably damaging |
1.00 |
|
R5992:Clcn2
|
UTSW |
16 |
20713654 |
missense |
possibly damaging |
0.68 |
|
R6045:Clcn2
|
UTSW |
16 |
20711688 |
critical splice donor site |
probably null |
|
|
R6765:Clcn2
|
UTSW |
16 |
20707668 |
splice site |
probably null |
|
|
R6825:Clcn2
|
UTSW |
16 |
20709658 |
utr 3 prime |
probably benign |
|
|
R7872:Clcn2
|
UTSW |
16 |
20708460 |
missense |
probably damaging |
0.99 |
|
R8028:Clcn2
|
UTSW |
16 |
20708762 |
missense |
possibly damaging |
0.66 |
|
R8198:Clcn2
|
UTSW |
16 |
20707196 |
missense |
probably damaging |
0.99 |
|
R8805:Clcn2
|
UTSW |
16 |
20713418 |
missense |
probably damaging |
1.00 |
|
R8924:Clcn2
|
UTSW |
16 |
20712180 |
missense |
probably damaging |
1.00 |
|
R8992:Clcn2
|
UTSW |
16 |
20712330 |
missense |
probably damaging |
1.00 |
|
R9074:Clcn2
|
UTSW |
16 |
20712664 |
missense |
possibly damaging |
0.78 |
|
R9101:Clcn2
|
UTSW |
16 |
20707229 |
missense |
probably benign |
0.00 |
|
R9456:Clcn2
|
UTSW |
16 |
20715952 |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAACCCAGTTTAGTTCTGCCC -3'
(R):5'- AGGAGTCTGAGGCACACATCTG -3'
Sequencing Primer
(F):5'- CCCTTTTCTCAAAGATGGGGCAG -3'
(R):5'- CATTGAAGGCTCTGTCACAGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation