Incidental Mutation 'R6139:Slc12a5'
| ID |
488473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a5
|
| Ensembl Gene |
ENSMUSG00000017740 |
| Gene Name |
solute carrier family 12, member 5 |
| Synonyms |
KCC2 |
| MMRRC Submission |
044286-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6139 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164802766-164841651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 164834231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 728
(S728T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099092]
[ENSMUST00000202136]
[ENSMUST00000202223]
[ENSMUST00000202479]
[ENSMUST00000202623]
|
| AlphaFold |
Q91V14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099092
AA Change: S728T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740
AA Change: S728T
| 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: S751T
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740
AA Change: S751T
| 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: S751T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740
AA Change: S751T
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,697,150 (GRCm39) |
T250A |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,350,713 (GRCm39) |
I1074T |
probably damaging |
Het |
| Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,842 (GRCm39) |
D747G |
probably damaging |
Het |
| Antxr2 |
A |
C |
5: 98,125,565 (GRCm39) |
|
probably null |
Het |
| Arhgap35 |
T |
C |
7: 16,297,392 (GRCm39) |
T558A |
possibly damaging |
Het |
| Asap1 |
T |
A |
15: 64,038,388 (GRCm39) |
I223F |
possibly damaging |
Het |
| C2cd5 |
A |
C |
6: 142,980,784 (GRCm39) |
D669E |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,036,154 (GRCm39) |
T1472M |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,177 (GRCm39) |
L154P |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,025 (GRCm39) |
E293G |
probably benign |
Het |
| Cma1 |
T |
A |
14: 56,180,157 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
C |
T |
11: 106,130,843 (GRCm39) |
A439V |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,621,143 (GRCm39) |
L625Q |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,007,984 (GRCm39) |
D2141G |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,376,382 (GRCm39) |
I1389T |
probably damaging |
Het |
| Fam81a |
A |
T |
9: 70,010,100 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,821,388 (GRCm39) |
D5707G |
possibly damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,083,360 (GRCm39) |
V219I |
probably benign |
Het |
| Gk2 |
A |
G |
5: 97,604,139 (GRCm39) |
V233A |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,622,075 (GRCm39) |
|
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,538 (GRCm39) |
V649D |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,321,989 (GRCm39) |
H977Y |
possibly damaging |
Het |
| Ktn1 |
T |
A |
14: 47,963,672 (GRCm39) |
|
probably null |
Het |
| Lgals12 |
T |
A |
19: 7,581,742 (GRCm39) |
T29S |
probably benign |
Het |
| Me3 |
G |
T |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
| Mgst3 |
T |
G |
1: 167,205,874 (GRCm39) |
K35T |
possibly damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,767,227 (GRCm39) |
R354G |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,033,738 (GRCm39) |
E1059G |
probably damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,998,701 (GRCm39) |
H408L |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,453 (GRCm39) |
T81S |
probably damaging |
Het |
| Or5ak23 |
A |
T |
2: 85,244,690 (GRCm39) |
F178I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,242 (GRCm39) |
L1275Q |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,856,825 (GRCm39) |
Y412C |
probably damaging |
Het |
| Pop1 |
T |
A |
15: 34,529,204 (GRCm39) |
C745S |
probably benign |
Het |
| Ptpn14 |
T |
G |
1: 189,583,362 (GRCm39) |
S736R |
probably benign |
Het |
| Rdh9 |
A |
T |
10: 127,612,606 (GRCm39) |
T85S |
possibly damaging |
Het |
| Rnf223 |
T |
C |
4: 156,217,260 (GRCm39) |
C212R |
probably damaging |
Het |
| Rnf39 |
A |
G |
17: 37,254,230 (GRCm39) |
E84G |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,375 (GRCm39) |
V584D |
probably damaging |
Het |
| Slc16a12 |
T |
A |
19: 34,648,295 (GRCm39) |
|
probably null |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,694,353 (GRCm39) |
L48P |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,572 (GRCm39) |
N951D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,030 (GRCm39) |
D118E |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,623,339 (GRCm39) |
T327I |
probably damaging |
Het |
| Wdr70 |
T |
C |
15: 8,108,735 (GRCm39) |
D137G |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,843,360 (GRCm39) |
M14K |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,447,613 (GRCm39) |
E283V |
probably benign |
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 |
|
|
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 |
|
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'- GCTTATCTGTGAGGAGCAGG -3'
(R):5'- ACCGATGAAGTTCCTCCATGTC -3'
Sequencing Primer
(F):5'- CTTATCTGTGAGGAGCAGGAACAG -3'
(R):5'- CGATGAAGTTCCTCCATGTCTGATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation