Incidental Mutation 'R1643:Slc12a5'
| ID |
173657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a5
|
| Ensembl Gene |
ENSMUSG00000017740 |
| Gene Name |
solute carrier family 12, member 5 |
| Synonyms |
KCC2 |
| MMRRC Submission |
039679-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1643 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164802766-164841651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 164835947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 865
(D865E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099092]
[ENSMUST00000202136]
[ENSMUST00000202223]
[ENSMUST00000202479]
[ENSMUST00000202623]
|
| AlphaFold |
Q91V14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099092
AA Change: D865E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740
AA Change: D865E
| 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 |
noncoding transcript
Transcript: ENSMUST00000137302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202136
|
| SMART Domains |
Protein: ENSMUSP00000143973
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 |
175 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202223
AA Change: D888E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740
AA Change: D888E
| 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: D888E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740
AA Change: D888E
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.5%
|
| Validation Efficiency |
99% (74/75) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
T |
A |
16: 3,724,942 (GRCm39) |
K45* |
probably null |
Het |
| Abcc1 |
T |
A |
16: 14,231,232 (GRCm39) |
Y457N |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,017,009 (GRCm39) |
D19G |
probably damaging |
Het |
| Adam39 |
T |
C |
8: 41,279,523 (GRCm39) |
V638A |
possibly damaging |
Het |
| Adamts1 |
G |
T |
16: 85,593,705 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,778,791 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,720,632 (GRCm39) |
S565N |
probably benign |
Het |
| Casd1 |
A |
G |
6: 4,621,243 (GRCm39) |
E267G |
probably benign |
Het |
| Casr |
T |
C |
16: 36,320,567 (GRCm39) |
K527R |
probably damaging |
Het |
| Cep128 |
A |
C |
12: 91,292,306 (GRCm39) |
S248A |
probably damaging |
Het |
| Clic4 |
A |
G |
4: 134,966,206 (GRCm39) |
V50A |
possibly damaging |
Het |
| Cylc2 |
C |
T |
4: 51,225,173 (GRCm39) |
A36V |
probably benign |
Het |
| Derl1 |
T |
A |
15: 57,741,955 (GRCm39) |
M127L |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,021,735 (GRCm39) |
V3529A |
possibly damaging |
Het |
| Dock1 |
G |
T |
7: 134,700,508 (GRCm39) |
L1089F |
probably damaging |
Het |
| Edil3 |
T |
A |
13: 89,437,695 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,589,804 (GRCm39) |
T134S |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,874,024 (GRCm39) |
V550A |
probably damaging |
Het |
| Fcho2 |
G |
A |
13: 98,921,324 (GRCm39) |
T187I |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,515,902 (GRCm39) |
|
probably null |
Het |
| Gdf7 |
T |
C |
12: 8,347,971 (GRCm39) |
Y442C |
probably damaging |
Het |
| Gm11567 |
G |
A |
11: 99,770,623 (GRCm39) |
G187E |
unknown |
Het |
| Gm8674 |
T |
C |
13: 50,055,394 (GRCm39) |
|
noncoding transcript |
Het |
| Ift80 |
T |
A |
3: 68,823,490 (GRCm39) |
I591F |
probably benign |
Het |
| Kcnn3 |
C |
T |
3: 89,427,804 (GRCm39) |
S10L |
unknown |
Het |
| Keg1 |
A |
G |
19: 12,696,406 (GRCm39) |
I197V |
probably benign |
Het |
| Klhdc9 |
A |
G |
1: 171,187,034 (GRCm39) |
|
probably null |
Het |
| Klhl11 |
A |
G |
11: 100,353,841 (GRCm39) |
V660A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,133,818 (GRCm39) |
|
probably benign |
Het |
| Lrrc73 |
G |
T |
17: 46,566,266 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,050,685 (GRCm39) |
S689L |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,910,504 (GRCm39) |
|
probably benign |
Het |
| Meis1 |
A |
G |
11: 18,966,278 (GRCm39) |
S32P |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,226,631 (GRCm39) |
|
probably null |
Het |
| Mlph |
T |
C |
1: 90,869,456 (GRCm39) |
L486P |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,682,836 (GRCm39) |
E1090G |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,696,005 (GRCm39) |
S247P |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,331,712 (GRCm39) |
Y636C |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,416,916 (GRCm39) |
Y40N |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
| Nisch |
T |
C |
14: 30,895,125 (GRCm39) |
D1057G |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,791,041 (GRCm39) |
H475R |
probably benign |
Het |
| Pde6c |
C |
A |
19: 38,150,406 (GRCm39) |
T517K |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,215,986 (GRCm39) |
I994V |
probably benign |
Het |
| Pik3r4 |
A |
G |
9: 105,564,351 (GRCm39) |
D1315G |
possibly damaging |
Het |
| Pip5k1c |
T |
G |
10: 81,150,828 (GRCm39) |
V46G |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,465,711 (GRCm39) |
E1213G |
probably damaging |
Het |
| Prl7d1 |
T |
C |
13: 27,896,114 (GRCm39) |
S88G |
possibly damaging |
Het |
| Prodh |
T |
A |
16: 17,898,933 (GRCm39) |
N72I |
probably benign |
Het |
| Prrc2a |
G |
A |
17: 35,375,930 (GRCm39) |
R907C |
probably damaging |
Het |
| Ptger2 |
T |
A |
14: 45,226,423 (GRCm39) |
M1K |
probably null |
Het |
| Samd4b |
G |
C |
7: 28,123,041 (GRCm39) |
Q6E |
probably damaging |
Het |
| Sec24a |
C |
T |
11: 51,595,212 (GRCm39) |
R916H |
probably benign |
Het |
| Slc17a3 |
T |
C |
13: 24,041,181 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
C |
2: 84,871,529 (GRCm39) |
V317A |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,035,307 (GRCm39) |
D95G |
possibly damaging |
Het |
| Taok2 |
A |
T |
7: 126,475,110 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
G |
18: 60,949,300 (GRCm39) |
K1205T |
possibly damaging |
Het |
| Trim43c |
C |
T |
9: 88,729,530 (GRCm39) |
R325C |
probably damaging |
Het |
| Trub2 |
T |
G |
2: 29,667,948 (GRCm39) |
T231P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uty |
T |
A |
Y: 1,152,054 (GRCm39) |
D724V |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,170 (GRCm39) |
D724G |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,023,781 (GRCm39) |
I2442T |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,795,542 (GRCm39) |
|
probably null |
Het |
| Zfp280b |
A |
G |
10: 75,875,444 (GRCm39) |
H441R |
probably damaging |
Het |
| Zfp60 |
A |
T |
7: 27,436,400 (GRCm39) |
Q7L |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,717,028 (GRCm39) |
L406S |
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 |
|
R0932:Slc12a5
|
UTSW |
2 |
164,838,805 (GRCm39) |
splice site |
probably benign |
|
|
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'- CCTGCTGGTCACCAAGAATGTTTCC -3'
(R):5'- GAAGGCGACCTGTATCATCCACTG -3'
Sequencing Primer
(F):5'- AAGAATGTTTCCATGTTTCCCG -3'
(R):5'- GTATCATCCACTGACGGCTATG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation