Incidental Mutation 'R5868:Slc12a2'
| ID |
454302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc12a2
|
| Ensembl Gene |
ENSMUSG00000024597 |
| Gene Name |
solute carrier family 12, member 2 |
| Synonyms |
sy-ns, Nkcc1, mBSC2, sodium/potassium/chloride cotransporters |
| MMRRC Submission |
044076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
58011750-58079893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 58077068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 1189
(P1189Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115366]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115366
AA Change: P1189Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111023
Gene: ENSMUSG00000024597
AA Change: P1189Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
91 |
122 |
4e-3 |
SMART |
|
low complexity region
|
141 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
190 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_N
|
196 |
260 |
5.9e-29 |
PFAM |
|
Pfam:AA_permease
|
284 |
787 |
4.1e-154 |
PFAM |
|
Pfam:AA_permease_2
|
290 |
743 |
8.7e-22 |
PFAM |
|
Pfam:SLC12
|
795 |
1206 |
2.7e-167 |
PFAM |
|
| Meta Mutation Damage Score |
0.4622 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.8%
|
| Validation Efficiency |
95% (58/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
C |
A |
11: 69,788,401 (GRCm39) |
K394N |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 114,504,380 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,609,439 (GRCm39) |
K69N |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| BC035947 |
T |
A |
1: 78,474,960 (GRCm39) |
N524I |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,985,796 (GRCm39) |
N37S |
unknown |
Het |
| Cfap91 |
T |
A |
16: 38,152,604 (GRCm39) |
D202V |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,760,473 (GRCm39) |
D648E |
probably benign |
Het |
| Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
| Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,804,011 (GRCm39) |
S1117P |
probably benign |
Het |
| Dnaaf8 |
T |
C |
16: 4,791,932 (GRCm39) |
|
noncoding transcript |
Het |
| Elmo2 |
A |
T |
2: 165,136,192 (GRCm39) |
M618K |
possibly damaging |
Het |
| Fggy |
A |
G |
4: 95,585,225 (GRCm39) |
T35A |
probably damaging |
Het |
| Gad2 |
G |
A |
2: 22,575,079 (GRCm39) |
|
probably null |
Het |
| Gtf3c2 |
A |
C |
5: 31,325,425 (GRCm39) |
F455V |
possibly damaging |
Het |
| H4c16 |
C |
T |
6: 136,781,292 (GRCm39) |
G29D |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,341,873 (GRCm39) |
A311S |
probably damaging |
Het |
| Kat6b |
G |
A |
14: 21,684,547 (GRCm39) |
D611N |
probably damaging |
Het |
| Kifap3 |
T |
C |
1: 163,693,041 (GRCm39) |
I611T |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,226,911 (GRCm39) |
Y683C |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,427,399 (GRCm39) |
N413S |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,078,518 (GRCm39) |
D691E |
possibly damaging |
Het |
| Mzf1 |
A |
T |
7: 12,787,116 (GRCm39) |
F64I |
probably benign |
Het |
| Neu2 |
G |
T |
1: 87,524,478 (GRCm39) |
Q154H |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,663,742 (GRCm39) |
|
probably null |
Het |
| Nod1 |
C |
A |
6: 54,916,312 (GRCm39) |
K128N |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,270,976 (GRCm39) |
Q215L |
possibly damaging |
Het |
| Npat |
A |
G |
9: 53,481,424 (GRCm39) |
E1044G |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,366,800 (GRCm39) |
|
probably benign |
Het |
| Pdcd6 |
T |
C |
13: 74,452,133 (GRCm39) |
D169G |
probably damaging |
Het |
| Pld3 |
G |
T |
7: 27,237,093 (GRCm39) |
T262N |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,299,704 (GRCm39) |
|
probably benign |
Het |
| Prh1 |
A |
G |
6: 132,549,174 (GRCm39) |
Q227R |
unknown |
Het |
| Prtg |
C |
A |
9: 72,716,999 (GRCm39) |
Y113* |
probably null |
Het |
| Rbm27 |
T |
A |
18: 42,433,450 (GRCm39) |
V242E |
possibly damaging |
Het |
| Ripor1 |
T |
C |
8: 106,342,636 (GRCm39) |
L198P |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,410,360 (GRCm39) |
|
probably null |
Het |
| Serpinf2 |
T |
C |
11: 75,324,065 (GRCm39) |
T321A |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,326,119 (GRCm39) |
D129G |
probably damaging |
Het |
| Slc16a9 |
T |
C |
10: 70,118,320 (GRCm39) |
M213T |
probably benign |
Het |
| Spata31f3 |
A |
T |
4: 42,871,711 (GRCm39) |
D221E |
probably damaging |
Het |
| Svil |
G |
A |
18: 5,056,854 (GRCm39) |
|
probably null |
Het |
| Synpo |
A |
G |
18: 60,737,118 (GRCm39) |
L37P |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,718,580 (GRCm39) |
H87R |
probably benign |
Het |
| Tmtc1 |
A |
T |
6: 148,139,353 (GRCm39) |
L885Q |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,586,128 (GRCm39) |
S811P |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,689,901 (GRCm39) |
V259A |
probably benign |
Het |
| Wwox |
T |
A |
8: 115,406,586 (GRCm39) |
H192Q |
probably benign |
Het |
|
| Other mutations in Slc12a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Slc12a2
|
APN |
18 |
58,069,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01099:Slc12a2
|
APN |
18 |
58,039,092 (GRCm39) |
nonsense |
probably null |
|
|
IGL01896:Slc12a2
|
APN |
18 |
58,029,380 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02266:Slc12a2
|
APN |
18 |
58,045,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02489:Slc12a2
|
APN |
18 |
58,045,074 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02681:Slc12a2
|
APN |
18 |
58,012,471 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03068:Slc12a2
|
APN |
18 |
58,037,407 (GRCm39) |
splice site |
probably benign |
|
|
IGL03076:Slc12a2
|
APN |
18 |
58,059,469 (GRCm39) |
splice site |
probably benign |
|
|
IGL03086:Slc12a2
|
APN |
18 |
58,054,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03238:Slc12a2
|
APN |
18 |
58,047,306 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
frankie
|
UTSW |
18 |
58,068,035 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
honeylamb
|
UTSW |
18 |
58,063,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sugar
|
UTSW |
18 |
58,032,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Slc12a2
|
UTSW |
18 |
58,048,594 (GRCm39) |
splice site |
probably benign |
|
|
R0194:Slc12a2
|
UTSW |
18 |
58,063,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0530:Slc12a2
|
UTSW |
18 |
58,052,608 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0959:Slc12a2
|
UTSW |
18 |
58,037,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1014:Slc12a2
|
UTSW |
18 |
58,054,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1112:Slc12a2
|
UTSW |
18 |
58,070,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1544:Slc12a2
|
UTSW |
18 |
58,012,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1669:Slc12a2
|
UTSW |
18 |
58,037,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1935:Slc12a2
|
UTSW |
18 |
58,037,425 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1951:Slc12a2
|
UTSW |
18 |
58,012,467 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1990:Slc12a2
|
UTSW |
18 |
58,043,358 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2340:Slc12a2
|
UTSW |
18 |
58,033,122 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3971:Slc12a2
|
UTSW |
18 |
58,063,268 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4120:Slc12a2
|
UTSW |
18 |
58,032,427 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4223:Slc12a2
|
UTSW |
18 |
58,043,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4541:Slc12a2
|
UTSW |
18 |
58,046,037 (GRCm39) |
splice site |
probably null |
|
|
R4678:Slc12a2
|
UTSW |
18 |
58,039,032 (GRCm39) |
nonsense |
probably null |
|
|
R4931:Slc12a2
|
UTSW |
18 |
58,068,035 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5114:Slc12a2
|
UTSW |
18 |
58,032,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5226:Slc12a2
|
UTSW |
18 |
58,012,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5648:Slc12a2
|
UTSW |
18 |
58,029,382 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5726:Slc12a2
|
UTSW |
18 |
58,029,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5789:Slc12a2
|
UTSW |
18 |
58,045,091 (GRCm39) |
splice site |
probably null |
|
|
R5921:Slc12a2
|
UTSW |
18 |
58,065,595 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6126:Slc12a2
|
UTSW |
18 |
58,077,116 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6310:Slc12a2
|
UTSW |
18 |
58,048,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6598:Slc12a2
|
UTSW |
18 |
58,031,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6615:Slc12a2
|
UTSW |
18 |
58,031,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Slc12a2
|
UTSW |
18 |
58,052,541 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6957:Slc12a2
|
UTSW |
18 |
58,043,344 (GRCm39) |
nonsense |
probably null |
|
|
R7411:Slc12a2
|
UTSW |
18 |
58,074,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7508:Slc12a2
|
UTSW |
18 |
58,037,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7645:Slc12a2
|
UTSW |
18 |
58,029,450 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7658:Slc12a2
|
UTSW |
18 |
58,065,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8054:Slc12a2
|
UTSW |
18 |
58,054,944 (GRCm39) |
nonsense |
probably null |
|
|
R8093:Slc12a2
|
UTSW |
18 |
58,012,423 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8099:Slc12a2
|
UTSW |
18 |
58,032,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8121:Slc12a2
|
UTSW |
18 |
58,032,403 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8214:Slc12a2
|
UTSW |
18 |
58,070,791 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8273:Slc12a2
|
UTSW |
18 |
58,047,338 (GRCm39) |
splice site |
probably benign |
|
|
R8341:Slc12a2
|
UTSW |
18 |
58,012,281 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8485:Slc12a2
|
UTSW |
18 |
58,074,218 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8797:Slc12a2
|
UTSW |
18 |
58,012,455 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9049:Slc12a2
|
UTSW |
18 |
58,054,863 (GRCm39) |
nonsense |
probably null |
|
|
R9180:Slc12a2
|
UTSW |
18 |
58,069,469 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9256:Slc12a2
|
UTSW |
18 |
58,074,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Slc12a2
|
UTSW |
18 |
58,063,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACTGCTGCATGTATACAGAATC -3'
(R):5'- AATGGGGCAACTTTCCATGTG -3'
Sequencing Primer
(F):5'- GCTGCATGTATACAGAATCCTTCC -3'
(R):5'- GGGGCAACTTTCCATGTGCTTTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation