Incidental Mutation 'R9580:Slc12a5'
ID |
722489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc12a5
|
Ensembl Gene |
ENSMUSG00000017740 |
Gene Name |
solute carrier family 12, member 5 |
Synonyms |
KCC2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9580 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
164802766-164841651 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 164816896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 140
(F140V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099092]
[ENSMUST00000202136]
[ENSMUST00000202223]
[ENSMUST00000202479]
[ENSMUST00000202623]
|
AlphaFold |
Q91V14 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099092
AA Change: F117V
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000096690 Gene: ENSMUSG00000017740 AA Change: F117V
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 |
probably damaging
Transcript: ENSMUST00000202136
AA Change: F117V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143973 Gene: ENSMUSG00000017740 AA Change: F117V
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: F140V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143870 Gene: ENSMUSG00000017740 AA Change: F140V
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 damaging
Transcript: ENSMUST00000202479
AA Change: F117V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144540 Gene: ENSMUSG00000017740 AA Change: F117V
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: F140V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144623 Gene: ENSMUSG00000017740 AA Change: F140V
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: 99.7%
- 20x: 99.2%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora2b |
T |
C |
11: 62,156,145 (GRCm39) |
M198T |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,636,248 (GRCm39) |
T595A |
probably benign |
Het |
Cep89 |
A |
T |
7: 35,102,538 (GRCm39) |
I84F |
possibly damaging |
Het |
Eda |
G |
T |
X: 99,019,775 (GRCm39) |
R130L |
unknown |
Het |
Erp44 |
T |
A |
4: 48,218,187 (GRCm39) |
R161* |
probably null |
Het |
Fcsk |
A |
G |
8: 111,616,813 (GRCm39) |
W446R |
probably damaging |
Het |
Gm12185 |
T |
G |
11: 48,799,192 (GRCm39) |
S434R |
possibly damaging |
Het |
Hmcn2 |
G |
T |
2: 31,294,875 (GRCm39) |
A2555S |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ighv1-61 |
A |
G |
12: 115,322,993 (GRCm39) |
S40P |
possibly damaging |
Het |
Kif26b |
C |
T |
1: 178,506,643 (GRCm39) |
Q240* |
probably null |
Het |
Mapkap1 |
C |
T |
2: 34,509,878 (GRCm39) |
T456M |
probably damaging |
Het |
Ncapg2 |
A |
G |
12: 116,424,228 (GRCm39) |
N1137S |
probably damaging |
Het |
Nectin4 |
C |
G |
1: 171,211,324 (GRCm39) |
R283G |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,828,457 (GRCm39) |
I259V |
probably benign |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or4c119 |
T |
C |
2: 88,987,465 (GRCm39) |
N18S |
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,265,092 (GRCm39) |
N371I |
possibly damaging |
Het |
Ppargc1a |
A |
T |
5: 51,620,139 (GRCm39) |
N733K |
unknown |
Het |
Ptpn5 |
A |
G |
7: 46,732,622 (GRCm39) |
Y345H |
probably damaging |
Het |
Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
Rbm47 |
A |
C |
5: 66,183,877 (GRCm39) |
M242R |
possibly damaging |
Het |
Slc22a2 |
G |
T |
17: 12,803,177 (GRCm39) |
V4L |
probably benign |
Het |
Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
Tas2r105 |
A |
T |
6: 131,663,699 (GRCm39) |
I243K |
probably damaging |
Het |
Tmem126b |
G |
T |
7: 90,118,231 (GRCm39) |
Y216* |
probably null |
Het |
Usp25 |
C |
T |
16: 76,880,682 (GRCm39) |
T681I |
probably benign |
Het |
Vmn1r206 |
C |
T |
13: 22,804,890 (GRCm39) |
A106T |
probably damaging |
Het |
Vmn1r39 |
A |
T |
6: 66,781,915 (GRCm39) |
N134K |
probably damaging |
Het |
Vmn1r9 |
T |
C |
6: 57,048,812 (GRCm39) |
S296P |
probably benign |
Het |
Zfp97 |
T |
A |
17: 17,365,243 (GRCm39) |
F247L |
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 |
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 |
R9677:Slc12a5
|
UTSW |
2 |
164,834,246 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATGTGAGAACCTGGGG -3'
(R):5'- AAAGCTCAGGTCGCATGCT -3'
Sequencing Primer
(F):5'- CATGTGAGAACCTGGGGGAAGAG -3'
(R):5'- AGGTCGCATGCTTCCCC -3'
|
Posted On |
2022-08-09 |