Incidental Mutation 'IGL02205:Slc12a5'
| ID |
284447 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc12a5
|
| Ensembl Gene |
ENSMUSG00000017740 |
| Gene Name |
solute carrier family 12, member 5 |
| Synonyms |
KCC2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164802766-164841651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 164838399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1046
(V1046D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040381]
[ENSMUST00000099092]
[ENSMUST00000121377]
[ENSMUST00000122070]
[ENSMUST00000202223]
[ENSMUST00000202479]
[ENSMUST00000202623]
|
| AlphaFold |
Q91V14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040381
|
| SMART Domains |
Protein: ENSMUSP00000046388
Gene: ENSMUSG00000039804
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
190 |
N/A |
INTRINSIC |
|
SCOP:d1kmma1
|
195 |
287 |
2e-9 |
SMART |
|
PDB:1V95|A
|
197 |
314 |
3e-79 |
PDB |
|
low complexity region
|
324 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099092
AA Change: V1023D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740
AA Change: V1023D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
90 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
102 |
304 |
5.2e-22 |
PFAM |
|
Pfam:AA_permease_2
|
364 |
632 |
1e-17 |
PFAM |
|
Pfam:AA_permease
|
389 |
676 |
1.9e-42 |
PFAM |
|
Pfam:SLC12
|
688 |
814 |
2.1e-19 |
PFAM |
|
Pfam:SLC12
|
807 |
959 |
1.8e-20 |
PFAM |
|
low complexity region
|
978 |
1002 |
N/A |
INTRINSIC |
|
Pfam:SLC12
|
1009 |
1115 |
2.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121377
|
| SMART Domains |
Protein: ENSMUSP00000113872
Gene: ENSMUSG00000039804
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V95|A
|
1 |
34 |
2e-15 |
PDB |
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122070
|
| SMART Domains |
Protein: ENSMUSP00000113166
Gene: ENSMUSG00000039804
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
190 |
N/A |
INTRINSIC |
|
SCOP:d1kmma1
|
195 |
287 |
1e-8 |
SMART |
|
PDB:1V95|A
|
197 |
314 |
2e-80 |
PDB |
|
low complexity region
|
324 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202223
AA Change: V1046D
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740
AA Change: V1046D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
113 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
125 |
327 |
1e-19 |
PFAM |
|
Pfam:AA_permease_2
|
386 |
655 |
4.5e-15 |
PFAM |
|
Pfam:AA_permease
|
412 |
699 |
3.7e-40 |
PFAM |
|
Pfam:SLC12
|
711 |
837 |
7.2e-17 |
PFAM |
|
Pfam:SLC12
|
830 |
982 |
6.2e-18 |
PFAM |
|
low complexity region
|
1001 |
1025 |
N/A |
INTRINSIC |
|
Pfam:SLC12
|
1030 |
1133 |
8.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202479
|
| SMART Domains |
Protein: ENSMUSP00000144540
Gene: ENSMUSG00000017740
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
90 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
102 |
176 |
5.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202623
AA Change: V1046D
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740
AA Change: V1046D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
113 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
125 |
327 |
5.3e-22 |
PFAM |
|
Pfam:AA_permease_2
|
386 |
655 |
1.2e-17 |
PFAM |
|
Pfam:AA_permease
|
412 |
699 |
2e-42 |
PFAM |
|
Pfam:SLC12
|
711 |
837 |
2.1e-19 |
PFAM |
|
Pfam:SLC12
|
830 |
982 |
1.8e-20 |
PFAM |
|
low complexity region
|
1001 |
1025 |
N/A |
INTRINSIC |
|
Pfam:SLC12
|
1032 |
1138 |
2.2e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
| Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
| Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
| Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
| P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
| Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
probably damaging |
Het |
|
| Other mutations in Slc12a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Slc12a5
|
APN |
2 |
164,839,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00425:Slc12a5
|
APN |
2 |
164,825,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00976:Slc12a5
|
APN |
2 |
164,821,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01654:Slc12a5
|
APN |
2 |
164,815,675 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01905:Slc12a5
|
APN |
2 |
164,832,301 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02510:Slc12a5
|
APN |
2 |
164,824,728 (GRCm39) |
splice site |
probably benign |
|
|
IGL02746:Slc12a5
|
APN |
2 |
164,816,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
G1Funyon:Slc12a5
|
UTSW |
2 |
164,835,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0051:Slc12a5
|
UTSW |
2 |
164,828,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Slc12a5
|
UTSW |
2 |
164,839,165 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0412:Slc12a5
|
UTSW |
2 |
164,835,982 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0587:Slc12a5
|
UTSW |
2 |
164,818,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Slc12a5
|
UTSW |
2 |
164,835,958 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0932:Slc12a5
|
UTSW |
2 |
164,838,805 (GRCm39) |
splice site |
probably benign |
|
|
R1643:Slc12a5
|
UTSW |
2 |
164,835,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1700:Slc12a5
|
UTSW |
2 |
164,834,296 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1760:Slc12a5
|
UTSW |
2 |
164,838,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2063:Slc12a5
|
UTSW |
2 |
164,839,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2293:Slc12a5
|
UTSW |
2 |
164,834,250 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2412:Slc12a5
|
UTSW |
2 |
164,818,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3035:Slc12a5
|
UTSW |
2 |
164,822,178 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3116:Slc12a5
|
UTSW |
2 |
164,838,101 (GRCm39) |
splice site |
probably null |
|
|
R3412:Slc12a5
|
UTSW |
2 |
164,810,351 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3788:Slc12a5
|
UTSW |
2 |
164,835,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4039:Slc12a5
|
UTSW |
2 |
164,834,250 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4174:Slc12a5
|
UTSW |
2 |
164,821,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4492:Slc12a5
|
UTSW |
2 |
164,821,263 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4608:Slc12a5
|
UTSW |
2 |
164,815,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4750:Slc12a5
|
UTSW |
2 |
164,824,851 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4994:Slc12a5
|
UTSW |
2 |
164,825,285 (GRCm39) |
splice site |
probably null |
|
|
R5103:Slc12a5
|
UTSW |
2 |
164,834,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5539:Slc12a5
|
UTSW |
2 |
164,829,126 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5632:Slc12a5
|
UTSW |
2 |
164,829,141 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5771:Slc12a5
|
UTSW |
2 |
164,815,688 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6139:Slc12a5
|
UTSW |
2 |
164,834,231 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6336:Slc12a5
|
UTSW |
2 |
164,834,384 (GRCm39) |
splice site |
probably null |
|
|
R6581:Slc12a5
|
UTSW |
2 |
164,829,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6706:Slc12a5
|
UTSW |
2 |
164,830,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Slc12a5
|
UTSW |
2 |
164,824,825 (GRCm39) |
missense |
probably benign |
|
|
R7134:Slc12a5
|
UTSW |
2 |
164,816,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Slc12a5
|
UTSW |
2 |
164,834,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Slc12a5
|
UTSW |
2 |
164,824,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8079:Slc12a5
|
UTSW |
2 |
164,834,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Slc12a5
|
UTSW |
2 |
164,835,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9105:Slc12a5
|
UTSW |
2 |
164,838,114 (GRCm39) |
missense |
probably benign |
|
|
R9132:Slc12a5
|
UTSW |
2 |
164,835,876 (GRCm39) |
intron |
probably benign |
|
|
R9431:Slc12a5
|
UTSW |
2 |
164,832,178 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9580:Slc12a5
|
UTSW |
2 |
164,816,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9677:Slc12a5
|
UTSW |
2 |
164,834,246 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Posted On |
2015-04-16 |
Incidental Mutation