Incidental Mutation 'R0629:Clca2'
| ID |
57742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca2
|
| Ensembl Gene |
ENSMUSG00000036960 |
| Gene Name |
chloride channel accessory 2 |
| Synonyms |
Clca5 |
| MMRRC Submission |
038818-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0629 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
145070263-145099443 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145072239 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 762
(M762L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040465]
[ENSMUST00000198993]
|
| AlphaFold |
Q8BG22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040465
AA Change: M762L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036029
Gene: ENSMUSG00000036960
AA Change: M762L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
VWA
|
309 |
485 |
3.55e-5 |
SMART |
|
low complexity region
|
739 |
754 |
N/A |
INTRINSIC |
|
Blast:FN3
|
765 |
875 |
5e-21 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198993
|
| SMART Domains |
Protein: ENSMUSP00000143161
Gene: ENSMUSG00000036960
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLCA_N
|
7 |
265 |
1.7e-121 |
PFAM |
|
VWA
|
309 |
485 |
2.2e-7 |
SMART |
|
Pfam:DUF1973
|
494 |
674 |
7.8e-75 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. Expression of this gene is upregulated by the tumor suppressor protein p53 in response to DNA damage. Mice lacking a functional copy of this gene exhibit increased liver weight and hepatocyte hypertrophy. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit increases in liver weight to body weight ratio and hepatocyte hypertrophy; one incidence of multifocal hepatic necrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
A |
T |
17: 45,507,547 (GRCm38) |
D86V |
probably damaging |
Het |
| Adamts14 |
G |
A |
10: 61,211,624 (GRCm38) |
Q733* |
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,543,105 (GRCm38) |
D651G |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 62,933,970 (GRCm38) |
C52S |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,333,426 (GRCm38) |
S463P |
probably damaging |
Het |
| Cabcoco1 |
T |
C |
10: 68,516,278 (GRCm38) |
Y68C |
probably damaging |
Het |
| Cacna1f |
G |
A |
X: 7,620,434 (GRCm38) |
S888N |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,409,543 (GRCm38) |
C2134R |
possibly damaging |
Het |
| Cdc37 |
A |
C |
9: 21,140,768 (GRCm38) |
M325R |
possibly damaging |
Het |
| Cntn3 |
C |
T |
6: 102,203,976 (GRCm38) |
V753M |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,727,165 (GRCm38) |
|
probably benign |
Het |
| Dscaml1 |
A |
G |
9: 45,721,418 (GRCm38) |
D1194G |
probably damaging |
Het |
| Egfr |
G |
A |
11: 16,869,333 (GRCm38) |
G288S |
probably damaging |
Het |
| Fbxl17 |
G |
T |
17: 63,471,414 (GRCm38) |
N19K |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,958,227 (GRCm38) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,883,762 (GRCm38) |
Y219H |
probably damaging |
Het |
| Fuca1 |
T |
C |
4: 135,925,644 (GRCm38) |
V193A |
possibly damaging |
Het |
| Gm1141 |
G |
C |
X: 71,938,773 (GRCm38) |
R296P |
possibly damaging |
Het |
| Gm7461 |
C |
T |
8: 4,677,769 (GRCm38) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,552,239 (GRCm38) |
N508K |
possibly damaging |
Het |
| Iqch |
A |
T |
9: 63,425,382 (GRCm38) |
D1019E |
probably benign |
Het |
| Isyna1 |
A |
G |
8: 70,594,708 (GRCm38) |
Y27C |
probably damaging |
Het |
| Itgb8 |
T |
G |
12: 119,202,481 (GRCm38) |
H105P |
probably benign |
Het |
| Kbtbd11 |
C |
T |
8: 15,027,572 (GRCm38) |
P57L |
probably benign |
Het |
| Kcns3 |
A |
C |
12: 11,092,558 (GRCm38) |
C47G |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,172,157 (GRCm38) |
|
probably null |
Het |
| Lama3 |
A |
T |
18: 12,419,245 (GRCm38) |
H418L |
possibly damaging |
Het |
| Lrit3 |
A |
G |
3: 129,788,302 (GRCm38) |
Y679H |
probably damaging |
Het |
| Lrrc19 |
T |
A |
4: 94,638,252 (GRCm38) |
D356V |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,135,807 (GRCm38) |
M997T |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 163,060,636 (GRCm38) |
H290R |
possibly damaging |
Het |
| Mtcl1 |
A |
T |
17: 66,338,142 (GRCm38) |
S1886T |
possibly damaging |
Het |
| Muc20 |
T |
C |
16: 32,793,421 (GRCm38) |
T529A |
possibly damaging |
Het |
| Myo7a |
A |
C |
7: 98,085,466 (GRCm38) |
L607R |
probably damaging |
Het |
| Myom2 |
T |
A |
8: 15,069,783 (GRCm38) |
F180I |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,811,485 (GRCm38) |
E89K |
unknown |
Het |
| Nek2 |
A |
G |
1: 191,831,317 (GRCm38) |
N431S |
probably benign |
Het |
| Olfr1086 |
T |
A |
2: 86,676,529 (GRCm38) |
H268L |
possibly damaging |
Het |
| Olfr169 |
A |
T |
16: 19,565,980 (GRCm38) |
V301E |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,832,604 (GRCm38) |
|
probably null |
Het |
| Oxsr1 |
A |
G |
9: 119,241,784 (GRCm38) |
|
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,078,648 (GRCm38) |
|
probably null |
Het |
| Proser1 |
C |
A |
3: 53,479,064 (GRCm38) |
P789Q |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 150,101,037 (GRCm38) |
Q7R |
probably benign |
Het |
| Rab3d |
A |
G |
9: 21,914,686 (GRCm38) |
V144A |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,439,547 (GRCm38) |
L167H |
probably damaging |
Het |
| Ranbp3 |
A |
G |
17: 56,708,200 (GRCm38) |
T301A |
possibly damaging |
Het |
| Rasgrf1 |
G |
A |
9: 89,984,269 (GRCm38) |
V587M |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,564,863 (GRCm38) |
|
probably benign |
Het |
| Sin3b |
T |
C |
8: 72,753,536 (GRCm38) |
|
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,098,562 (GRCm38) |
S128G |
probably benign |
Het |
| Tbl1xr1 |
G |
A |
3: 22,210,401 (GRCm38) |
V507I |
probably benign |
Het |
| Tmem8b |
T |
G |
4: 43,669,896 (GRCm38) |
|
probably null |
Het |
| Trak1 |
A |
T |
9: 121,367,167 (GRCm38) |
T22S |
probably benign |
Het |
| Trim30d |
A |
G |
7: 104,487,655 (GRCm38) |
I114T |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 124,674,366 (GRCm38) |
S624T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,828,130 (GRCm38) |
|
probably benign |
Het |
| Vipr1 |
T |
A |
9: 121,660,171 (GRCm38) |
Y99* |
probably null |
Het |
| Vmn1r210 |
T |
C |
13: 22,827,874 (GRCm38) |
K81E |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,853,472 (GRCm38) |
Y841C |
probably benign |
Het |
| Xrcc4 |
A |
G |
13: 90,000,905 (GRCm38) |
|
probably benign |
Het |
| Zdhhc22 |
A |
T |
12: 86,988,297 (GRCm38) |
I127N |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,088,046 (GRCm38) |
L8P |
possibly damaging |
Het |
| Zfp664 |
C |
A |
5: 124,885,595 (GRCm38) |
L18I |
probably damaging |
Het |
|
| Other mutations in Clca2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Clca2
|
APN |
3 |
145,098,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01337:Clca2
|
APN |
3 |
145,095,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01389:Clca2
|
APN |
3 |
145,077,868 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01595:Clca2
|
APN |
3 |
145,088,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01704:Clca2
|
APN |
3 |
145,095,218 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02416:Clca2
|
APN |
3 |
145,085,016 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02455:Clca2
|
APN |
3 |
145,081,411 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02481:Clca2
|
APN |
3 |
145,084,940 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02526:Clca2
|
APN |
3 |
145,088,018 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02797:Clca2
|
APN |
3 |
145,081,263 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03253:Clca2
|
APN |
3 |
145,071,563 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL03256:Clca2
|
APN |
3 |
145,086,392 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL03294:Clca2
|
APN |
3 |
145,097,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
3370:Clca2
|
UTSW |
3 |
145,077,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0479:Clca2
|
UTSW |
3 |
145,090,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0542:Clca2
|
UTSW |
3 |
145,075,810 (GRCm38) |
splice site |
probably benign |
|
|
R1488:Clca2
|
UTSW |
3 |
145,084,164 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R1523:Clca2
|
UTSW |
3 |
145,071,644 (GRCm38) |
nonsense |
probably null |
|
|
R1568:Clca2
|
UTSW |
3 |
145,075,649 (GRCm38) |
nonsense |
probably null |
|
|
R1650:Clca2
|
UTSW |
3 |
145,092,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1771:Clca2
|
UTSW |
3 |
145,081,410 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2101:Clca2
|
UTSW |
3 |
145,077,938 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2242:Clca2
|
UTSW |
3 |
145,090,790 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3751:Clca2
|
UTSW |
3 |
145,071,455 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4496:Clca2
|
UTSW |
3 |
145,092,165 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4962:Clca2
|
UTSW |
3 |
145,077,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5344:Clca2
|
UTSW |
3 |
145,087,942 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5424:Clca2
|
UTSW |
3 |
145,084,181 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5931:Clca2
|
UTSW |
3 |
145,092,125 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6181:Clca2
|
UTSW |
3 |
145,090,708 (GRCm38) |
nonsense |
probably null |
|
|
R6598:Clca2
|
UTSW |
3 |
145,086,485 (GRCm38) |
nonsense |
probably null |
|
|
R7167:Clca2
|
UTSW |
3 |
145,097,784 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7229:Clca2
|
UTSW |
3 |
145,084,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7256:Clca2
|
UTSW |
3 |
145,090,847 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7365:Clca2
|
UTSW |
3 |
145,098,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7813:Clca2
|
UTSW |
3 |
145,084,965 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8077:Clca2
|
UTSW |
3 |
145,071,527 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8169:Clca2
|
UTSW |
3 |
145,077,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8290:Clca2
|
UTSW |
3 |
145,087,958 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8300:Clca2
|
UTSW |
3 |
145,098,931 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8350:Clca2
|
UTSW |
3 |
145,077,907 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8854:Clca2
|
UTSW |
3 |
145,078,091 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8876:Clca2
|
UTSW |
3 |
145,071,599 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8887:Clca2
|
UTSW |
3 |
145,085,049 (GRCm38) |
nonsense |
probably null |
|
|
R9006:Clca2
|
UTSW |
3 |
145,078,028 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9093:Clca2
|
UTSW |
3 |
145,075,720 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9190:Clca2
|
UTSW |
3 |
145,090,838 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9209:Clca2
|
UTSW |
3 |
145,072,244 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9501:Clca2
|
UTSW |
3 |
145,071,561 (GRCm38) |
nonsense |
probably null |
|
|
X0025:Clca2
|
UTSW |
3 |
145,086,504 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
Z1177:Clca2
|
UTSW |
3 |
145,086,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGCTAAAATGTGAGCCAGGAGC -3'
(R):5'- CCGATGAACCAATATGTGTGGAGGG -3'
Sequencing Primer
(F):5'- CTACACACACACAGTGGGGG -3'
(R):5'- GCTGTCTCAACAATCTGGCAAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation