Incidental Mutation 'R1101:Clcn2'
| ID |
98134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn2
|
| Ensembl Gene |
ENSMUSG00000022843 |
| Gene Name |
chloride channel, voltage-sensitive 2 |
| Synonyms |
nmf240, Clc2, ClC-2 |
| MMRRC Submission |
039174-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.584)
|
| Stock # |
R1101 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
20521714-20536496 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20522345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 787
(T787I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007207]
[ENSMUST00000056518]
[ENSMUST00000118919]
[ENSMUST00000120099]
[ENSMUST00000128273]
[ENSMUST00000131522]
[ENSMUST00000232309]
[ENSMUST00000232207]
[ENSMUST00000149543]
|
| AlphaFold |
Q9R0A1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007207
AA Change: T831I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: T831I
| 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 damaging
Transcript: ENSMUST00000120099
AA Change: T814I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: T814I
| 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 |
noncoding transcript
Transcript: ENSMUST00000153075
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232309
AA Change: T787I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232207
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149543
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| 2610021A01Rik |
C |
A |
7: 41,276,783 (GRCm39) |
H829N |
probably damaging |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abi3bp |
G |
T |
16: 56,426,521 (GRCm39) |
R512L |
probably damaging |
Het |
| Acot2 |
T |
G |
12: 84,039,624 (GRCm39) |
S378A |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,096,205 (GRCm39) |
I2360T |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,989,625 (GRCm39) |
D155G |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,993,610 (GRCm39) |
V714A |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,587,585 (GRCm39) |
V170I |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,599 (GRCm39) |
H131R |
probably damaging |
Het |
| Dct |
T |
G |
14: 118,274,034 (GRCm39) |
D291A |
probably damaging |
Het |
| Dhx37 |
A |
G |
5: 125,492,216 (GRCm39) |
Y1128H |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,684,780 (GRCm39) |
I1174F |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 78,959,467 (GRCm39) |
Y3C |
probably damaging |
Het |
| Enpp5 |
A |
G |
17: 44,392,258 (GRCm39) |
N229S |
possibly damaging |
Het |
| Fam83b |
A |
T |
9: 76,452,952 (GRCm39) |
H38Q |
possibly damaging |
Het |
| Fcamr |
T |
A |
1: 130,742,223 (GRCm39) |
|
probably null |
Het |
| Hdac2 |
G |
A |
10: 36,867,805 (GRCm39) |
V184I |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,981,700 (GRCm39) |
L5Q |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Ireb2 |
T |
A |
9: 54,816,986 (GRCm39) |
H951Q |
probably benign |
Het |
| Lman1 |
T |
A |
18: 66,120,969 (GRCm39) |
M418L |
probably benign |
Het |
| Lrrfip2 |
C |
T |
9: 111,019,293 (GRCm39) |
R275W |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,239,307 (GRCm39) |
I424F |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,802,584 (GRCm39) |
D147G |
probably benign |
Het |
| Mtr |
C |
A |
13: 12,204,411 (GRCm39) |
E1128D |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,790,932 (GRCm39) |
S534R |
probably benign |
Het |
| Or4c107 |
A |
T |
2: 88,789,328 (GRCm39) |
I173F |
possibly damaging |
Het |
| Or4k42 |
T |
C |
2: 111,319,787 (GRCm39) |
T239A |
probably damaging |
Het |
| Or5k1 |
A |
G |
16: 58,617,615 (GRCm39) |
V198A |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,707,828 (GRCm39) |
D882V |
probably damaging |
Het |
| Pik3cg |
C |
T |
12: 32,245,645 (GRCm39) |
G868S |
probably null |
Het |
| Plppr5 |
T |
G |
3: 117,456,172 (GRCm39) |
M231R |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,638,897 (GRCm39) |
T46A |
probably benign |
Het |
| Ppp4r3a |
C |
A |
12: 101,017,830 (GRCm39) |
R440L |
probably damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,444,071 (GRCm39) |
T364S |
probably benign |
Het |
| Sirt3 |
A |
G |
7: 140,449,541 (GRCm39) |
V135A |
possibly damaging |
Het |
| Supt16 |
T |
C |
14: 52,408,896 (GRCm39) |
N826S |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,083 (GRCm39) |
I11T |
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,609,419 (GRCm39) |
E407G |
possibly damaging |
Het |
| Vps72 |
C |
A |
3: 95,026,487 (GRCm39) |
T144K |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACCTCAGTGGTCTCTGTGTC -3'
(R):5'- AGCTCAAATGTCCCTCCAGCAGTC -3'
Sequencing Primer
(F):5'- GCTGTGACAGAGCCTTCAATG -3'
(R):5'- AGTCCCTCCCACTGTCATATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation