Incidental Mutation 'R0932:Slc12a5'
ID |
80946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc12a5
|
Ensembl Gene |
ENSMUSG00000017740 |
Gene Name |
solute carrier family 12, member 5 |
Synonyms |
KCC2 |
MMRRC Submission |
039076-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0932 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
164802766-164841651 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 164838805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000096690 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 |
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
|
SMART Domains |
Protein: ENSMUSP00000143870 Gene: ENSMUSG00000017740
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
|
SMART Domains |
Protein: ENSMUSP00000144623 Gene: ENSMUSG00000017740
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 |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.2%
- 20x: 97.1%
|
Validation Efficiency |
100% (42/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
C |
16: 90,852,995 (GRCm39) |
N47S |
probably benign |
Het |
AA986860 |
T |
C |
1: 130,665,430 (GRCm39) |
|
probably null |
Het |
Akap9 |
T |
A |
5: 4,096,492 (GRCm39) |
C2456S |
possibly damaging |
Het |
Anks3 |
C |
T |
16: 4,771,691 (GRCm39) |
R111H |
probably damaging |
Het |
Atp1a3 |
A |
T |
7: 24,687,401 (GRCm39) |
|
probably null |
Het |
Bahd1 |
T |
C |
2: 118,746,408 (GRCm39) |
L9P |
probably damaging |
Het |
Capn12 |
T |
C |
7: 28,587,123 (GRCm39) |
V364A |
possibly damaging |
Het |
Cds1 |
T |
A |
5: 101,944,891 (GRCm39) |
C122S |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,185,459 (GRCm39) |
T351A |
possibly damaging |
Het |
Cuzd1 |
T |
C |
7: 130,921,923 (GRCm39) |
|
probably benign |
Het |
Daxx |
T |
C |
17: 34,129,635 (GRCm39) |
L72P |
probably damaging |
Het |
Depdc1b |
A |
G |
13: 108,523,369 (GRCm39) |
I415V |
probably benign |
Het |
Dlg2 |
T |
C |
7: 92,024,845 (GRCm39) |
V675A |
probably damaging |
Het |
Dtx4 |
A |
G |
19: 12,469,515 (GRCm39) |
V204A |
probably benign |
Het |
Ganc |
T |
C |
2: 120,288,610 (GRCm39) |
V872A |
probably damaging |
Het |
Gm14403 |
A |
T |
2: 177,198,810 (GRCm39) |
R38W |
probably benign |
Het |
Gm4553 |
T |
C |
7: 141,719,423 (GRCm39) |
S2G |
unknown |
Het |
Gm8159 |
G |
A |
14: 4,635,226 (GRCm38) |
R148H |
possibly damaging |
Het |
Gsdmc3 |
T |
C |
15: 63,730,400 (GRCm39) |
|
probably null |
Het |
Ibtk |
C |
T |
9: 85,617,099 (GRCm39) |
G158R |
probably damaging |
Het |
Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
Kctd7 |
A |
T |
5: 130,180,510 (GRCm39) |
|
probably null |
Het |
Kdr |
T |
C |
5: 76,129,465 (GRCm39) |
T141A |
probably benign |
Het |
Krt25 |
T |
A |
11: 99,212,109 (GRCm39) |
Q176L |
possibly damaging |
Het |
Krt71 |
T |
C |
15: 101,645,195 (GRCm39) |
N372S |
probably benign |
Het |
Mllt3 |
A |
G |
4: 87,707,621 (GRCm39) |
V446A |
probably damaging |
Het |
Or1j21 |
T |
A |
2: 36,683,903 (GRCm39) |
Y218* |
probably null |
Het |
Or4k38 |
A |
T |
2: 111,165,543 (GRCm39) |
D293E |
probably benign |
Het |
Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
Or5p52 |
A |
C |
7: 107,502,397 (GRCm39) |
T158P |
possibly damaging |
Het |
Or9e1 |
T |
C |
11: 58,732,540 (GRCm39) |
V200A |
possibly damaging |
Het |
Poldip2 |
T |
C |
11: 78,403,294 (GRCm39) |
S18P |
possibly damaging |
Het |
Ptprd |
T |
G |
4: 76,055,122 (GRCm39) |
Q193P |
probably damaging |
Het |
Reck |
C |
T |
4: 43,922,838 (GRCm39) |
T371M |
possibly damaging |
Het |
Rnf144b |
G |
T |
13: 47,374,001 (GRCm39) |
R66L |
probably null |
Het |
Rpn2 |
T |
A |
2: 157,125,691 (GRCm39) |
D67E |
possibly damaging |
Het |
Scn11a |
A |
G |
9: 119,636,876 (GRCm39) |
F275S |
probably damaging |
Het |
Snapc4 |
A |
G |
2: 26,264,658 (GRCm39) |
I253T |
probably damaging |
Het |
Tppp2 |
C |
T |
14: 52,157,881 (GRCm39) |
|
probably benign |
Het |
Usp9y |
A |
C |
Y: 1,315,930 (GRCm39) |
N2068K |
probably benign |
Het |
Vmn2r45 |
A |
G |
7: 8,478,380 (GRCm39) |
C536R |
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 |
IGL02205:Slc12a5
|
APN |
2 |
164,838,399 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTTCCCCAGTTCGAGACTTACAG -3'
(R):5'- CCAAGAAGAGTTAGGTCGGATCGC -3'
Sequencing Primer
(F):5'- TTCCAGGTCAGGATGCACTC -3'
(R):5'- TTAGGTCGGATCGCCCTCC -3'
|
Posted On |
2013-11-07 |