Incidental Mutation 'R5103:Slc12a5'
| ID |
392463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a5
|
| Ensembl Gene |
ENSMUSG00000017740 |
| Gene Name |
solute carrier family 12, member 5 |
| Synonyms |
KCC2 |
| MMRRC Submission |
042691-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5103 (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 164834353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 791
(H791Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099092]
[ENSMUST00000202136]
[ENSMUST00000202223]
[ENSMUST00000202479]
[ENSMUST00000202623]
|
| AlphaFold |
Q91V14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099092
AA Change: H768Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740
AA Change: H768Q
| 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 damaging
Transcript: ENSMUST00000202223
AA Change: H791Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740
AA Change: H791Q
| 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 damaging
Transcript: ENSMUST00000202623
AA Change: H791Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740
AA Change: H791Q
| 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 |
0.2478 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
99% (82/83) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
G |
A |
5: 31,051,345 (GRCm39) |
R518H |
probably damaging |
Het |
| Agfg1 |
T |
C |
1: 82,871,288 (GRCm39) |
S486P |
probably damaging |
Het |
| Arhgap18 |
A |
G |
10: 26,745,978 (GRCm39) |
D283G |
probably damaging |
Het |
| Asb1 |
A |
G |
1: 91,480,066 (GRCm39) |
N162S |
possibly damaging |
Het |
| Capn1 |
A |
G |
19: 6,059,140 (GRCm39) |
Y274H |
probably damaging |
Het |
| Cdk5 |
A |
T |
5: 24,627,833 (GRCm39) |
V30E |
probably damaging |
Het |
| Cep290 |
T |
G |
10: 100,374,882 (GRCm39) |
L1376W |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,873,944 (GRCm39) |
T1055S |
probably damaging |
Het |
| Cyp2c70 |
A |
G |
19: 40,149,076 (GRCm39) |
Y357H |
probably damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Eml6 |
T |
A |
11: 29,800,905 (GRCm39) |
E367V |
possibly damaging |
Het |
| Emp1 |
A |
G |
6: 135,358,073 (GRCm39) |
T140A |
probably benign |
Het |
| Ergic3 |
T |
C |
2: 155,850,545 (GRCm39) |
V74A |
probably benign |
Het |
| Fancm |
A |
T |
12: 65,152,632 (GRCm39) |
L1029F |
probably damaging |
Het |
| Fank1 |
C |
A |
7: 133,478,570 (GRCm39) |
C210* |
probably null |
Het |
| Fbxo31 |
T |
C |
8: 122,279,101 (GRCm39) |
D462G |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,909,849 (GRCm39) |
A736V |
probably benign |
Het |
| Fshr |
T |
C |
17: 89,404,796 (GRCm39) |
T56A |
possibly damaging |
Het |
| Gm5901 |
A |
T |
7: 105,026,589 (GRCm39) |
|
probably null |
Het |
| Golga2 |
A |
G |
2: 32,193,758 (GRCm39) |
E458G |
probably benign |
Het |
| Grik2 |
T |
A |
10: 49,372,205 (GRCm39) |
I335F |
probably benign |
Het |
| Grin1 |
T |
A |
2: 25,200,433 (GRCm39) |
M230L |
probably benign |
Het |
| Gtf2f1 |
C |
T |
17: 57,311,519 (GRCm39) |
G297D |
probably damaging |
Het |
| H2-T5 |
T |
C |
17: 36,472,577 (GRCm39) |
|
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,045,724 (GRCm39) |
T136A |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,087,109 (GRCm39) |
S24C |
probably damaging |
Het |
| Jtb |
T |
C |
3: 90,139,394 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,974,418 (GRCm39) |
G979E |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,261,868 (GRCm39) |
M345V |
probably damaging |
Het |
| Mfsd14b |
A |
G |
13: 65,234,907 (GRCm39) |
V90A |
possibly damaging |
Het |
| Micu1 |
T |
C |
10: 59,624,806 (GRCm39) |
Y283H |
possibly damaging |
Het |
| Mmp2 |
C |
T |
8: 93,558,413 (GRCm39) |
R161* |
probably null |
Het |
| Mrpl2 |
G |
A |
17: 46,960,964 (GRCm39) |
R286Q |
probably benign |
Het |
| Msh5 |
T |
C |
17: 35,248,215 (GRCm39) |
I783V |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 69,926,747 (GRCm39) |
F65I |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,587,605 (GRCm39) |
V37L |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 70,990,352 (GRCm39) |
T967S |
probably damaging |
Het |
| Nolc1 |
A |
T |
19: 46,070,103 (GRCm39) |
K291* |
probably null |
Het |
| Or1j18 |
A |
T |
2: 36,624,680 (GRCm39) |
T116S |
probably benign |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or8d2b |
G |
T |
9: 38,788,872 (GRCm39) |
M133I |
probably damaging |
Het |
| Or8u8 |
C |
A |
2: 86,011,960 (GRCm39) |
R165L |
probably benign |
Het |
| Paip1 |
A |
G |
13: 119,574,515 (GRCm39) |
E70G |
possibly damaging |
Het |
| Palmd |
T |
A |
3: 116,721,070 (GRCm39) |
E127V |
probably damaging |
Het |
| Paqr6 |
T |
A |
3: 88,275,024 (GRCm39) |
C262* |
probably null |
Het |
| Pdcd11 |
A |
G |
19: 47,112,893 (GRCm39) |
H1301R |
probably benign |
Het |
| Plce1 |
C |
A |
19: 38,755,659 (GRCm39) |
D1896E |
probably damaging |
Het |
| Ppib |
A |
G |
9: 65,968,747 (GRCm39) |
|
probably null |
Het |
| Pzp |
C |
T |
6: 128,479,192 (GRCm39) |
V654M |
probably benign |
Het |
| Rab26 |
T |
C |
17: 24,753,071 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,590,956 (GRCm39) |
L468P |
probably damaging |
Het |
| Retreg1 |
C |
T |
15: 25,968,540 (GRCm39) |
Q65* |
probably null |
Het |
| Rhpn1 |
C |
T |
15: 75,586,064 (GRCm39) |
T659I |
possibly damaging |
Het |
| Rmc1 |
A |
G |
18: 12,322,319 (GRCm39) |
I591V |
probably benign |
Het |
| Slc40a1 |
G |
A |
1: 45,958,155 (GRCm39) |
Q93* |
probably null |
Het |
| Slc4a1 |
T |
C |
11: 102,244,087 (GRCm39) |
M681V |
possibly damaging |
Het |
| Slc6a9 |
T |
A |
4: 117,725,352 (GRCm39) |
F493L |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,459,033 (GRCm39) |
E476G |
probably damaging |
Het |
| Smco4 |
G |
T |
9: 15,456,090 (GRCm39) |
E59* |
probably null |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,111,054 (GRCm39) |
L167Q |
probably damaging |
Het |
| Sult1e1 |
C |
A |
5: 87,724,091 (GRCm39) |
V289L |
probably benign |
Het |
| Tbc1d4 |
C |
A |
14: 101,696,318 (GRCm39) |
E877* |
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,492,164 (GRCm39) |
I1033F |
probably damaging |
Het |
| Tppp2 |
T |
A |
14: 52,156,909 (GRCm39) |
F95L |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,260,562 (GRCm39) |
V288A |
probably benign |
Het |
| Vmn2r41 |
G |
A |
7: 8,141,341 (GRCm39) |
L708F |
probably benign |
Het |
| Washc5 |
G |
A |
15: 59,222,018 (GRCm39) |
P126L |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,740,911 (GRCm39) |
I221V |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,983,659 (GRCm39) |
R628G |
probably benign |
Het |
| Zfp207 |
T |
C |
11: 80,282,736 (GRCm39) |
L233P |
probably damaging |
Het |
| Zfp827 |
T |
A |
8: 79,797,032 (GRCm39) |
C373S |
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 |
|
|
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 |
|
|
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'- AGGGAGTCTGTGAGCCCAAG -3'
(R):5'- CAGAAGCTGGCATGTGGTGTC -3'
Sequencing Primer
(F):5'- TGTGAGCCCAAGCCCCAG -3'
(R):5'- TATGTGCTGAGACTCGCAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation