Incidental Mutation 'R6336:Slc12a5'
| ID |
510744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a5
|
| Ensembl Gene |
ENSMUSG00000017740 |
| Gene Name |
solute carrier family 12, member 5 |
| Synonyms |
KCC2 |
| MMRRC Submission |
044490-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164802766-164841651 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 164834384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099092]
[ENSMUST00000202136]
[ENSMUST00000202223]
[ENSMUST00000202479]
[ENSMUST00000202623]
|
| AlphaFold |
Q91V14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099092
AA Change: W779R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096690
Gene: ENSMUSG00000017740
AA Change: W779R
| 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: W802R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143870
Gene: ENSMUSG00000017740
AA Change: W802R
| 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 null
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: W802R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144623
Gene: ENSMUSG00000017740
AA Change: W802R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (45/46) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,331,349 (GRCm39) |
P955Q |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,534,100 (GRCm39) |
N5827S |
probably benign |
Het |
| Akt3 |
T |
C |
1: 176,859,278 (GRCm39) |
D431G |
probably damaging |
Het |
| Anapc16 |
A |
T |
10: 59,824,651 (GRCm39) |
V76D |
possibly damaging |
Het |
| Ankib1 |
A |
T |
5: 3,750,377 (GRCm39) |
Y755* |
probably null |
Het |
| Ankrd6 |
A |
G |
4: 32,860,411 (GRCm39) |
S11P |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,128,646 (GRCm39) |
K917* |
probably null |
Het |
| Ccdc152 |
T |
C |
15: 3,330,611 (GRCm39) |
I21M |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,819 (GRCm39) |
E207G |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,512,239 (GRCm39) |
A499E |
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,286,394 (GRCm39) |
A383V |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,509,027 (GRCm39) |
V89A |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,121,851 (GRCm39) |
176 |
probably null |
Het |
| Dlgap1 |
T |
A |
17: 71,122,284 (GRCm39) |
D904E |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,370,347 (GRCm39) |
L849H |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,728,545 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
C |
A |
15: 58,431,081 (GRCm39) |
Y245* |
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,839,964 (GRCm39) |
Y109H |
probably damaging |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,491 (GRCm39) |
D43G |
probably benign |
Het |
| Gabrb1 |
A |
C |
5: 72,187,241 (GRCm39) |
E178A |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,473,355 (GRCm39) |
|
|
Het |
| Grin3b |
C |
A |
10: 79,812,295 (GRCm39) |
A845E |
probably damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,705 (GRCm39) |
Y28C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,237,760 (GRCm39) |
T807M |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,778,767 (GRCm39) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,375,939 (GRCm39) |
T565K |
probably damaging |
Het |
| Map7d1 |
A |
G |
4: 126,130,475 (GRCm39) |
S412P |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,800,558 (GRCm39) |
|
probably null |
Het |
| Mto1 |
A |
T |
9: 78,381,117 (GRCm39) |
I73F |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 111,458,796 (GRCm39) |
D310N |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,709,821 (GRCm39) |
Y393H |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,459 (GRCm39) |
C112S |
probably damaging |
Het |
| Or2f1b |
T |
C |
6: 42,739,591 (GRCm39) |
S202P |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,369 (GRCm39) |
K301N |
probably damaging |
Het |
| Or4f47 |
A |
C |
2: 111,972,751 (GRCm39) |
I154L |
probably benign |
Het |
| Or4k49 |
A |
G |
2: 111,494,964 (GRCm39) |
H131R |
possibly damaging |
Het |
| Or52z1 |
T |
C |
7: 103,437,452 (GRCm39) |
T11A |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,952 (GRCm39) |
|
probably benign |
Het |
| Potefam3f |
A |
G |
8: 20,499,951 (GRCm39) |
K242E |
unknown |
Het |
| Rnf17 |
A |
G |
14: 56,658,626 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
T |
C |
13: 33,378,677 (GRCm39) |
M41T |
probably damaging |
Het |
| Slc22a6 |
G |
A |
19: 8,599,494 (GRCm39) |
R331H |
probably benign |
Het |
| Spg11 |
G |
C |
2: 121,943,440 (GRCm39) |
|
probably null |
Het |
| Src |
T |
A |
2: 157,299,075 (GRCm39) |
V24E |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,761,846 (GRCm39) |
Y101N |
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,307 (GRCm39) |
T110S |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,361,646 (GRCm39) |
E119G |
possibly damaging |
Het |
| Whamm |
T |
A |
7: 81,241,512 (GRCm39) |
D274E |
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 |
|
|
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 |
|
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'- AGGCTGGCCCTTATAGACATATAC -3'
(R):5'- AAGCTGGCATGTGGTGTCAC -3'
Sequencing Primer
(F):5'- ATATACCCTCCTCACAGTCTATCAGG -3'
(R):5'- TATGTGCTGAGACTCGCAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation