Incidental Mutation 'R0024:Slc24a2'
| ID |
15171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc24a2
|
| Ensembl Gene |
ENSMUSG00000037996 |
| Gene Name |
solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 |
| Synonyms |
6330417K15Rik |
| MMRRC Submission |
038319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R0024 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
86901361-87148714 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 86946477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044990]
[ENSMUST00000107155]
[ENSMUST00000107157]
[ENSMUST00000107158]
|
| AlphaFold |
Q14BI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044990
|
| SMART Domains |
Protein: ENSMUSP00000043937
Gene: ENSMUSG00000037996
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
149 |
281 |
3.7e-34 |
PFAM |
|
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
|
transmembrane domain
|
472 |
489 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
509 |
648 |
8.9e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107155
|
| SMART Domains |
Protein: ENSMUSP00000102773
Gene: ENSMUSG00000037996
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
149 |
281 |
3.6e-34 |
PFAM |
|
low complexity region
|
428 |
440 |
N/A |
INTRINSIC |
|
transmembrane domain
|
455 |
472 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
492 |
631 |
8.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107157
|
| SMART Domains |
Protein: ENSMUSP00000102775
Gene: ENSMUSG00000037996
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
139 |
283 |
7.2e-32 |
PFAM |
|
transmembrane domain
|
476 |
493 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
503 |
654 |
4.4e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107158
|
| SMART Domains |
Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
139 |
283 |
8e-32 |
PFAM |
|
transmembrane domain
|
521 |
538 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
548 |
699 |
4.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146815
|
| Coding Region Coverage |
- 1x: 79.2%
- 3x: 69.7%
- 10x: 44.0%
- 20x: 23.5%
|
| Validation Efficiency |
95% (75/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutation of this gene results in loss of long term potentiation and an increase in long term depression and deficits in motor learning and spatial working memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Akip1 |
T |
C |
7: 109,303,345 (GRCm39) |
S63P |
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,580 (GRCm39) |
P254S |
possibly damaging |
Het |
| Aqp8 |
T |
C |
7: 123,066,663 (GRCm39) |
I256T |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Astn1 |
G |
A |
1: 158,511,785 (GRCm39) |
S1209N |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,576,818 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
| Cadm4 |
T |
C |
7: 24,202,169 (GRCm39) |
L336P |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,123,866 (GRCm39) |
H1131R |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 27,999,586 (GRCm39) |
|
probably benign |
Het |
| Dscam |
G |
A |
16: 96,394,585 (GRCm39) |
R1906* |
probably null |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,869,340 (GRCm39) |
T676A |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,420,507 (GRCm39) |
M428T |
probably benign |
Het |
| Fry |
T |
G |
5: 150,304,268 (GRCm39) |
S553A |
probably benign |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Gm14340 |
T |
A |
2: 180,466,043 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9457 |
A |
C |
8: 4,863,131 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,401,687 (GRCm39) |
T473A |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
| Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,828 (GRCm39) |
T164A |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,955,109 (GRCm39) |
Y701N |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,133,399 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,303 (GRCm39) |
I79N |
possibly damaging |
Het |
| Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rsc1a1 |
T |
C |
4: 141,412,583 (GRCm39) |
K110E |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,025,537 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,688,956 (GRCm39) |
|
probably benign |
Het |
| Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,994,756 (GRCm39) |
|
probably null |
Het |
| Ttc27 |
T |
C |
17: 75,077,259 (GRCm39) |
F385L |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
probably benign |
Het |
|
| Other mutations in Slc24a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01987:Slc24a2
|
APN |
4 |
87,146,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02080:Slc24a2
|
APN |
4 |
87,145,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03121:Slc24a2
|
APN |
4 |
87,145,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
G1patch:Slc24a2
|
UTSW |
4 |
87,145,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4403001:Slc24a2
|
UTSW |
4 |
86,950,523 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0024:Slc24a2
|
UTSW |
4 |
86,946,477 (GRCm39) |
unclassified |
probably benign |
|
|
R0372:Slc24a2
|
UTSW |
4 |
87,145,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1034:Slc24a2
|
UTSW |
4 |
86,950,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1577:Slc24a2
|
UTSW |
4 |
86,909,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Slc24a2
|
UTSW |
4 |
87,094,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1955:Slc24a2
|
UTSW |
4 |
86,991,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Slc24a2
|
UTSW |
4 |
86,914,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Slc24a2
|
UTSW |
4 |
86,929,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Slc24a2
|
UTSW |
4 |
86,909,592 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2921:Slc24a2
|
UTSW |
4 |
86,909,591 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2922:Slc24a2
|
UTSW |
4 |
86,909,591 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2924:Slc24a2
|
UTSW |
4 |
86,929,961 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3806:Slc24a2
|
UTSW |
4 |
87,146,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3933:Slc24a2
|
UTSW |
4 |
87,094,422 (GRCm39) |
missense |
probably benign |
|
|
R4052:Slc24a2
|
UTSW |
4 |
87,145,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4207:Slc24a2
|
UTSW |
4 |
87,145,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Slc24a2
|
UTSW |
4 |
87,146,099 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4531:Slc24a2
|
UTSW |
4 |
86,909,715 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4561:Slc24a2
|
UTSW |
4 |
87,145,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4808:Slc24a2
|
UTSW |
4 |
86,950,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4884:Slc24a2
|
UTSW |
4 |
86,909,745 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4893:Slc24a2
|
UTSW |
4 |
87,145,145 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4936:Slc24a2
|
UTSW |
4 |
87,145,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5035:Slc24a2
|
UTSW |
4 |
86,929,943 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5171:Slc24a2
|
UTSW |
4 |
86,914,871 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5369:Slc24a2
|
UTSW |
4 |
86,909,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5924:Slc24a2
|
UTSW |
4 |
86,929,825 (GRCm39) |
splice site |
probably null |
|
|
R6046:Slc24a2
|
UTSW |
4 |
86,914,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6725:Slc24a2
|
UTSW |
4 |
87,145,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6756:Slc24a2
|
UTSW |
4 |
87,094,529 (GRCm39) |
missense |
probably benign |
|
|
R7087:Slc24a2
|
UTSW |
4 |
86,909,456 (GRCm39) |
splice site |
probably null |
|
|
R7804:Slc24a2
|
UTSW |
4 |
86,909,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8003:Slc24a2
|
UTSW |
4 |
87,094,552 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8058:Slc24a2
|
UTSW |
4 |
86,909,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Slc24a2
|
UTSW |
4 |
87,145,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Slc24a2
|
UTSW |
4 |
86,946,517 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9656:Slc24a2
|
UTSW |
4 |
86,968,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0003:Slc24a2
|
UTSW |
4 |
86,909,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-12 |
Incidental Mutation