Incidental Mutation 'R8198:Clcn2'
| ID |
635562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn2
|
| Ensembl Gene |
ENSMUSG00000022843 |
| Gene Name |
chloride channel, voltage-sensitive 2 |
| Synonyms |
nmf240, Clc2, ClC-2 |
| MMRRC Submission |
067621-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.584)
|
| Stock # |
R8198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20521714-20536496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20525946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 808
(V808A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007207]
[ENSMUST00000056518]
[ENSMUST00000118919]
[ENSMUST00000120099]
[ENSMUST00000131522]
|
| AlphaFold |
Q9R0A1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007207
AA Change: V808A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: V808A
| 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 |
possibly damaging
Transcript: ENSMUST00000120099
AA Change: V791A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: V791A
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
T |
C |
14: 41,825,017 (GRCm39) |
*168R |
probably null |
Het |
| Adgrb1 |
C |
A |
15: 74,411,094 (GRCm39) |
T330K |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,307,880 (GRCm39) |
V373A |
probably benign |
Het |
| Aoah |
C |
T |
13: 21,101,290 (GRCm39) |
P270L |
probably damaging |
Het |
| AU041133 |
C |
G |
10: 81,987,249 (GRCm39) |
P301A |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Cd2bp2 |
A |
G |
7: 126,793,576 (GRCm39) |
S204P |
possibly damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,167 (GRCm39) |
G32C |
probably damaging |
Het |
| Clec4d |
T |
C |
6: 123,244,965 (GRCm39) |
C82R |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,460 (GRCm39) |
D671G |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,825,145 (GRCm39) |
R691* |
probably null |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Gm4922 |
T |
C |
10: 18,659,340 (GRCm39) |
T461A |
probably benign |
Het |
| Gm9964 |
A |
G |
11: 79,187,405 (GRCm39) |
V14A |
unknown |
Het |
| Gnb3 |
T |
C |
6: 124,814,000 (GRCm39) |
Y196C |
probably benign |
Het |
| H4c2 |
C |
G |
13: 23,941,283 (GRCm39) |
Q94E |
possibly damaging |
Het |
| Hps1 |
C |
T |
19: 42,755,659 (GRCm39) |
R189Q |
probably benign |
Het |
| Iars2 |
G |
A |
1: 185,029,703 (GRCm39) |
T638I |
probably benign |
Het |
| Itpripl2 |
A |
G |
7: 118,089,819 (GRCm39) |
S247P |
probably damaging |
Het |
| Leng8 |
C |
A |
7: 4,147,170 (GRCm39) |
R523S |
possibly damaging |
Het |
| Lhfpl3 |
T |
A |
5: 23,478,333 (GRCm39) |
V72D |
probably benign |
Het |
| Lmntd2 |
A |
T |
7: 140,791,134 (GRCm39) |
M426K |
possibly damaging |
Het |
| Lsg1 |
A |
T |
16: 30,383,594 (GRCm39) |
V542E |
probably benign |
Het |
| Mphosph6 |
C |
T |
8: 118,519,449 (GRCm39) |
V108I |
probably benign |
Het |
| Mta2 |
A |
G |
19: 8,925,145 (GRCm39) |
T338A |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,580,664 (GRCm39) |
N98S |
probably benign |
Het |
| Or52h7 |
T |
A |
7: 104,214,140 (GRCm39) |
D237E |
probably benign |
Het |
| Or7a36 |
C |
A |
10: 78,820,443 (GRCm39) |
T273K |
probably benign |
Het |
| Or7a42 |
T |
A |
10: 78,791,558 (GRCm39) |
V173E |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,958,411 (GRCm39) |
V806A |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,612,440 (GRCm39) |
|
probably null |
Het |
| Sdad1 |
A |
T |
5: 92,439,811 (GRCm39) |
C405S |
probably damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,887,056 (GRCm39) |
Y345F |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,065,174 (GRCm39) |
I814V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,744,829 (GRCm39) |
I3108V |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,125,947 (GRCm39) |
I409F |
probably benign |
Het |
| Syt13 |
C |
A |
2: 92,783,899 (GRCm39) |
L390M |
probably damaging |
Het |
| Taf5 |
T |
A |
19: 47,064,212 (GRCm39) |
V385E |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,006,863 (GRCm39) |
V909E |
probably damaging |
Het |
| Tex9 |
G |
A |
9: 72,387,940 (GRCm39) |
|
probably benign |
Het |
| Timm10b |
G |
T |
7: 105,327,537 (GRCm39) |
E61* |
probably null |
Het |
| Tmprss11g |
A |
T |
5: 86,646,352 (GRCm39) |
F72I |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,219,880 (GRCm39) |
C2206R |
probably benign |
Het |
| Uba52rt |
C |
A |
4: 3,973,346 (GRCm39) |
R72L |
probably benign |
Het |
| Unc45b |
GC |
G |
11: 82,816,814 (GRCm39) |
|
probably null |
Het |
| Unc93b1 |
T |
C |
19: 3,991,910 (GRCm39) |
S215P |
possibly damaging |
Het |
| Usp48 |
C |
T |
4: 137,348,470 (GRCm39) |
|
probably benign |
Het |
| Vmn1r81 |
A |
G |
7: 11,993,882 (GRCm39) |
V242A |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,389,673 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ATTCCATGGGGTAACTGTGAG -3'
(R):5'- CATCTTGGGAGGAAAGCTGG -3'
Sequencing Primer
(F):5'- GAAAATTGATGCCTGGCTCC -3'
(R):5'- GCAAACCAGCCTTCCGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation