Incidental Mutation 'R3788:Slc12a5'
| ID |
272362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a5
|
| Ensembl Gene |
ENSMUSG00000017740 |
| Gene Name |
solute carrier family 12, member 5 |
| Synonyms |
KCC2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3788 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164960802-164999731 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164993775 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 861
(L861P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099092]
[ENSMUST00000202136]
[ENSMUST00000202223]
[ENSMUST00000202479]
[ENSMUST00000202623]
|
| AlphaFold |
Q91V14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099092
AA Change: L838P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740
AA Change: L838P
| 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: L861P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740
AA Change: L861P
| 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: L861P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740
AA Change: L861P
| 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 |
0.9684 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 122,052,912 (GRCm38) |
V26E |
possibly damaging |
Het |
| Abhd16a |
A |
G |
17: 35,101,587 (GRCm38) |
N411S |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,702,153 (GRCm38) |
|
probably null |
Het |
| Aph1b |
T |
C |
9: 66,794,066 (GRCm38) |
|
probably benign |
Het |
| Aspm |
C |
T |
1: 139,463,203 (GRCm38) |
T742I |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 159,566,496 (GRCm38) |
H619R |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,288,297 (GRCm38) |
|
probably null |
Het |
| Cemip |
A |
T |
7: 83,943,898 (GRCm38) |
L1199H |
probably damaging |
Het |
| Chd2 |
G |
A |
7: 73,447,130 (GRCm38) |
|
probably benign |
Het |
| Clnk |
A |
G |
5: 38,714,998 (GRCm38) |
Y310H |
probably damaging |
Het |
| Crmp1 |
A |
G |
5: 37,284,140 (GRCm38) |
D522G |
probably damaging |
Het |
| Cyth3 |
A |
G |
5: 143,636,543 (GRCm38) |
|
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,319,658 (GRCm38) |
Y392N |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,454,057 (GRCm38) |
F1820L |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,520,115 (GRCm38) |
R385* |
probably null |
Het |
| Gpatch3 |
C |
A |
4: 133,575,168 (GRCm38) |
R137S |
possibly damaging |
Het |
| Gpc6 |
C |
T |
14: 117,624,466 (GRCm38) |
P265S |
probably damaging |
Het |
| Harbi1 |
T |
A |
2: 91,720,607 (GRCm38) |
D308E |
probably benign |
Het |
| Hdhd2 |
G |
A |
18: 76,955,187 (GRCm38) |
|
probably null |
Het |
| Hk1 |
T |
C |
10: 62,275,688 (GRCm38) |
K737E |
possibly damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,336,313 (GRCm38) |
V345M |
probably damaging |
Het |
| Ift56 |
T |
A |
6: 38,403,524 (GRCm38) |
|
probably null |
Het |
| Kalrn |
T |
C |
16: 34,220,240 (GRCm38) |
H944R |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,351,805 (GRCm38) |
C207S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Krt75 |
C |
T |
15: 101,573,521 (GRCm38) |
G104D |
possibly damaging |
Het |
| Lnpk |
A |
T |
2: 74,522,263 (GRCm38) |
S358R |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,416,863 (GRCm38) |
T1512A |
probably damaging |
Het |
| Marchf10 |
T |
A |
11: 105,397,079 (GRCm38) |
L132F |
probably damaging |
Het |
| Mfrp |
G |
A |
9: 44,105,457 (GRCm38) |
W65* |
probably null |
Het |
| Mgat5 |
A |
G |
1: 127,366,443 (GRCm38) |
D174G |
probably benign |
Het |
| Miga2 |
T |
A |
2: 30,371,225 (GRCm38) |
Y177* |
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,185,475 (GRCm38) |
D747G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,863,834 (GRCm38) |
T3506A |
possibly damaging |
Het |
| Myo7b |
G |
T |
18: 31,974,112 (GRCm38) |
P1277T |
possibly damaging |
Het |
| Naaa |
C |
T |
5: 92,272,554 (GRCm38) |
|
probably null |
Het |
| Ndufs2 |
T |
C |
1: 171,235,320 (GRCm38) |
D410G |
possibly damaging |
Het |
| Or51a25 |
A |
G |
7: 102,723,487 (GRCm38) |
|
probably null |
Het |
| Or5p78 |
T |
A |
7: 108,613,073 (GRCm38) |
Y255* |
probably null |
Het |
| Or7e177 |
A |
G |
9: 20,300,370 (GRCm38) |
I58V |
probably benign |
Het |
| Or8g35 |
A |
G |
9: 39,470,069 (GRCm38) |
I219T |
probably benign |
Het |
| Osbp |
A |
T |
19: 11,978,921 (GRCm38) |
Y409F |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 109,109,287 (GRCm38) |
V1303D |
possibly damaging |
Het |
| Prkcg |
G |
A |
7: 3,313,747 (GRCm38) |
D246N |
probably damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,219,203 (GRCm38) |
|
probably benign |
Het |
| Sbf1 |
G |
A |
15: 89,299,528 (GRCm38) |
R1261* |
probably null |
Het |
| Scn4a |
T |
C |
11: 106,344,274 (GRCm38) |
N341S |
probably damaging |
Het |
| Sec61a2 |
C |
A |
2: 5,879,625 (GRCm38) |
|
probably null |
Het |
| Sgcd |
T |
A |
11: 47,355,205 (GRCm38) |
K57* |
probably null |
Het |
| Sinhcaf |
A |
G |
6: 148,926,119 (GRCm38) |
S134P |
possibly damaging |
Het |
| Slc6a16 |
A |
G |
7: 45,259,962 (GRCm38) |
D184G |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,838,990 (GRCm38) |
|
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,745,922 (GRCm38) |
I1710V |
probably damaging |
Het |
| Sytl2 |
A |
T |
7: 90,376,081 (GRCm38) |
I426F |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,891,752 (GRCm38) |
|
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,382,633 (GRCm38) |
D496Y |
possibly damaging |
Het |
| Tomm20l |
C |
T |
12: 71,111,742 (GRCm38) |
A58V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,974,208 (GRCm38) |
V240A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,945,274 (GRCm38) |
E1854G |
unknown |
Het |
| Vmn2r98 |
A |
T |
17: 19,080,625 (GRCm38) |
T630S |
probably benign |
Het |
| Xrcc1 |
G |
C |
7: 24,566,908 (GRCm38) |
A220P |
probably benign |
Het |
|
| Other mutations in Slc12a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Slc12a5
|
APN |
2 |
164,997,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00425:Slc12a5
|
APN |
2 |
164,983,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00976:Slc12a5
|
APN |
2 |
164,979,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01654:Slc12a5
|
APN |
2 |
164,973,755 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01905:Slc12a5
|
APN |
2 |
164,990,381 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02205:Slc12a5
|
APN |
2 |
164,996,479 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02510:Slc12a5
|
APN |
2 |
164,982,808 (GRCm38) |
splice site |
probably benign |
|
|
IGL02746:Slc12a5
|
APN |
2 |
164,974,916 (GRCm38) |
missense |
probably benign |
0.01 |
|
G1Funyon:Slc12a5
|
UTSW |
2 |
164,993,691 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0051:Slc12a5
|
UTSW |
2 |
164,986,663 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0254:Slc12a5
|
UTSW |
2 |
164,997,245 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0412:Slc12a5
|
UTSW |
2 |
164,994,062 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0587:Slc12a5
|
UTSW |
2 |
164,976,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0835:Slc12a5
|
UTSW |
2 |
164,994,038 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0932:Slc12a5
|
UTSW |
2 |
164,996,885 (GRCm38) |
splice site |
probably benign |
|
|
R1643:Slc12a5
|
UTSW |
2 |
164,994,027 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1700:Slc12a5
|
UTSW |
2 |
164,992,376 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1760:Slc12a5
|
UTSW |
2 |
164,996,128 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2063:Slc12a5
|
UTSW |
2 |
164,997,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2293:Slc12a5
|
UTSW |
2 |
164,992,330 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2412:Slc12a5
|
UTSW |
2 |
164,976,462 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3035:Slc12a5
|
UTSW |
2 |
164,980,258 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3116:Slc12a5
|
UTSW |
2 |
164,996,181 (GRCm38) |
splice site |
probably null |
|
|
R3412:Slc12a5
|
UTSW |
2 |
164,968,431 (GRCm38) |
missense |
probably benign |
0.26 |
|
R4039:Slc12a5
|
UTSW |
2 |
164,992,330 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4174:Slc12a5
|
UTSW |
2 |
164,979,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4492:Slc12a5
|
UTSW |
2 |
164,979,343 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4608:Slc12a5
|
UTSW |
2 |
164,973,765 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4750:Slc12a5
|
UTSW |
2 |
164,982,931 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4994:Slc12a5
|
UTSW |
2 |
164,983,365 (GRCm38) |
splice site |
probably null |
|
|
R5103:Slc12a5
|
UTSW |
2 |
164,992,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5539:Slc12a5
|
UTSW |
2 |
164,987,206 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5632:Slc12a5
|
UTSW |
2 |
164,987,221 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5771:Slc12a5
|
UTSW |
2 |
164,973,768 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6139:Slc12a5
|
UTSW |
2 |
164,992,311 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6336:Slc12a5
|
UTSW |
2 |
164,992,464 (GRCm38) |
splice site |
probably null |
|
|
R6581:Slc12a5
|
UTSW |
2 |
164,987,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6706:Slc12a5
|
UTSW |
2 |
164,988,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6886:Slc12a5
|
UTSW |
2 |
164,982,905 (GRCm38) |
missense |
probably benign |
|
|
R7134:Slc12a5
|
UTSW |
2 |
164,974,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7310:Slc12a5
|
UTSW |
2 |
164,992,440 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7402:Slc12a5
|
UTSW |
2 |
164,982,932 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8079:Slc12a5
|
UTSW |
2 |
164,992,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8301:Slc12a5
|
UTSW |
2 |
164,993,691 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9105:Slc12a5
|
UTSW |
2 |
164,996,194 (GRCm38) |
missense |
probably benign |
|
|
R9132:Slc12a5
|
UTSW |
2 |
164,993,956 (GRCm38) |
intron |
probably benign |
|
|
R9431:Slc12a5
|
UTSW |
2 |
164,990,258 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9580:Slc12a5
|
UTSW |
2 |
164,974,976 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9677:Slc12a5
|
UTSW |
2 |
164,992,326 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGCTTTTCCCGGGTATC -3'
(R):5'- CAAGGATCAACGGCGAATCC -3'
Sequencing Primer
(F):5'- AGACCTGGTCACGGTTGC -3'
(R):5'- TCCCAAAAGAAAGGTCCCGTAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation