Incidental Mutation 'R1700:Slc12a5'
| ID |
189629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a5
|
| Ensembl Gene |
ENSMUSG00000017740 |
| Gene Name |
solute carrier family 12, member 5 |
| Synonyms |
KCC2 |
| MMRRC Submission |
039733-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1700 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164802766-164841651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 164834296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 749
(N749K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099092]
[ENSMUST00000202136]
[ENSMUST00000202223]
[ENSMUST00000202479]
[ENSMUST00000202623]
|
| AlphaFold |
Q91V14 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099092
AA Change: N749K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740
AA Change: N749K
| 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: N772K
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740
AA Change: N772K
| 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: N772K
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740
AA Change: N772K
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,899,537 (GRCm39) |
F936L |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,152,143 (GRCm39) |
I211N |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Alas1 |
C |
T |
9: 106,116,845 (GRCm39) |
V293I |
possibly damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,580,244 (GRCm39) |
Y569H |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,603 (GRCm39) |
D1190G |
probably damaging |
Het |
| Astn2 |
G |
A |
4: 65,664,591 (GRCm39) |
Q679* |
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,062,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,468,302 (GRCm39) |
K279E |
probably damaging |
Het |
| C2cd2l |
G |
A |
9: 44,227,909 (GRCm39) |
P111S |
probably benign |
Het |
| C7 |
T |
A |
15: 5,032,274 (GRCm39) |
K646* |
probably null |
Het |
| Ccp110 |
C |
T |
7: 118,334,536 (GRCm39) |
T1003I |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 165,012,716 (GRCm39) |
D123G |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,768,433 (GRCm39) |
V722A |
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,592,901 (GRCm39) |
F174S |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 63,688,551 (GRCm39) |
C332R |
probably damaging |
Het |
| Cxcl10 |
A |
T |
5: 92,495,714 (GRCm39) |
N76K |
probably damaging |
Het |
| Dnaaf9 |
G |
A |
2: 130,551,858 (GRCm39) |
L1010F |
probably damaging |
Het |
| Dnaja3 |
G |
A |
16: 4,502,029 (GRCm39) |
R11K |
probably null |
Het |
| Efcab10 |
A |
G |
12: 33,445,170 (GRCm39) |
T28A |
possibly damaging |
Het |
| Esrrg |
A |
G |
1: 187,775,850 (GRCm39) |
R103G |
probably damaging |
Het |
| Exosc2 |
A |
G |
2: 31,560,818 (GRCm39) |
K23E |
probably benign |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,822,081 (GRCm39) |
V5938A |
probably benign |
Het |
| Gclc |
A |
G |
9: 77,683,571 (GRCm39) |
T143A |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,623 (GRCm39) |
V407A |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,122,884 (GRCm39) |
M497K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,357,960 (GRCm39) |
|
probably null |
Het |
| Hnrnpll |
A |
C |
17: 80,341,534 (GRCm39) |
S502A |
probably benign |
Het |
| Ipo11 |
G |
T |
13: 106,932,170 (GRCm39) |
T975N |
probably benign |
Het |
| Kif17 |
C |
T |
4: 137,990,009 (GRCm39) |
Q66* |
probably null |
Het |
| Lrp10 |
T |
C |
14: 54,707,209 (GRCm39) |
V682A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,677 (GRCm39) |
L75Q |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,735,169 (GRCm39) |
Y430N |
probably benign |
Het |
| Med8 |
C |
T |
4: 118,269,931 (GRCm39) |
S72L |
possibly damaging |
Het |
| Mex3a |
A |
G |
3: 88,443,682 (GRCm39) |
T253A |
probably damaging |
Het |
| Myf6 |
T |
C |
10: 107,329,220 (GRCm39) |
K242E |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,587 (GRCm39) |
Y31F |
probably benign |
Het |
| Ndufa12 |
T |
A |
10: 94,035,855 (GRCm39) |
Y48N |
probably damaging |
Het |
| Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
| Or51q1c |
T |
A |
7: 103,653,329 (GRCm39) |
Y282* |
probably null |
Het |
| Or5as1 |
T |
G |
2: 86,980,123 (GRCm39) |
N294T |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,610,639 (GRCm39) |
T1858A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,618,651 (GRCm39) |
L2P |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,214,241 (GRCm39) |
R1642H |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,333,990 (GRCm39) |
M213K |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,965,041 (GRCm39) |
N709S |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,124,999 (GRCm39) |
W308R |
probably damaging |
Het |
| Prkag2 |
A |
T |
5: 25,076,539 (GRCm39) |
I208N |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,330,864 (GRCm39) |
F156I |
probably damaging |
Het |
| Rpusd3 |
A |
G |
6: 113,392,494 (GRCm39) |
*345Q |
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,276,178 (GRCm39) |
K575R |
probably benign |
Het |
| Shd |
G |
A |
17: 56,281,307 (GRCm39) |
V250I |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,254,021 (GRCm39) |
V488D |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Srsf4 |
C |
A |
4: 131,627,871 (GRCm39) |
|
probably benign |
Het |
| Strn |
T |
C |
17: 78,999,831 (GRCm39) |
Y135C |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,409,376 (GRCm39) |
M1V |
probably null |
Het |
| Tas1r3 |
T |
G |
4: 155,946,027 (GRCm39) |
Q489P |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,013,774 (GRCm39) |
N97K |
probably damaging |
Het |
| Tas2r113 |
A |
G |
6: 132,870,755 (GRCm39) |
Y261C |
possibly damaging |
Het |
| Tex21 |
T |
C |
12: 76,268,446 (GRCm39) |
E112G |
probably damaging |
Het |
| Trappc8 |
T |
C |
18: 20,966,055 (GRCm39) |
S1128G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,279,025 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,434,018 (GRCm39) |
D121G |
probably damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,180,023 (GRCm39) |
I56V |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,662,949 (GRCm39) |
I348M |
probably damaging |
Het |
| Usp21 |
C |
A |
1: 171,111,295 (GRCm39) |
L379F |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,390 (GRCm39) |
H214L |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,341,900 (GRCm39) |
E93G |
unknown |
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 |
|
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'- GGCTTATCTGTGAGGAGCAGGAAC -3'
(R):5'- GCATGAGAGAAAGCCTCCACTTACC -3'
Sequencing Primer
(F):5'- CCTAGAGTTGGATAAGATCAGAGTTG -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation