Incidental Mutation 'IGL01987:Slc24a2'
ID |
181967 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc24a2
|
Ensembl Gene |
ENSMUSG00000037996 |
Gene Name |
solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 |
Synonyms |
6330417K15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
IGL01987
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
86901361-87148714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87146033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 7
(P7L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044990]
[ENSMUST00000107155]
[ENSMUST00000107157]
[ENSMUST00000107158]
|
AlphaFold |
Q14BI1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044990
AA Change: P7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043937 Gene: ENSMUSG00000037996 AA Change: P7L
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
AA Change: P7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102773 Gene: ENSMUSG00000037996 AA Change: P7L
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
AA Change: P7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102775 Gene: ENSMUSG00000037996 AA Change: P7L
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
AA Change: P7L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000102776 Gene: ENSMUSG00000037996 AA Change: P7L
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 |
noncoding transcript
Transcript: ENSMUST00000134248
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155361
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,565,202 (GRCm39) |
F77L |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,964,981 (GRCm39) |
F439L |
possibly damaging |
Het |
Abcb5 |
A |
T |
12: 118,891,093 (GRCm39) |
V468D |
probably damaging |
Het |
Adgrb3 |
A |
T |
1: 25,140,512 (GRCm39) |
|
probably null |
Het |
Ajm1 |
T |
C |
2: 25,467,970 (GRCm39) |
E647G |
possibly damaging |
Het |
Ankrd28 |
T |
C |
14: 31,500,931 (GRCm39) |
D50G |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,587,579 (GRCm39) |
|
probably null |
Het |
Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,220,319 (GRCm39) |
|
probably null |
Het |
Dmtf1l |
C |
T |
X: 125,722,098 (GRCm39) |
E336K |
possibly damaging |
Het |
E2f5 |
T |
C |
3: 14,652,363 (GRCm39) |
|
probably benign |
Het |
Fam135b |
A |
G |
15: 71,333,964 (GRCm39) |
Y1077H |
probably benign |
Het |
Fap |
A |
G |
2: 62,359,020 (GRCm39) |
Y428H |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,708,899 (GRCm39) |
S595P |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,922,748 (GRCm38) |
|
probably null |
Het |
Fzd3 |
A |
T |
14: 65,477,347 (GRCm39) |
V69E |
probably damaging |
Het |
Gcdh |
A |
T |
8: 85,620,110 (GRCm39) |
|
probably benign |
Het |
Ido1 |
A |
G |
8: 25,083,159 (GRCm39) |
Y89H |
probably benign |
Het |
Itga2 |
G |
A |
13: 114,984,482 (GRCm39) |
Q1010* |
probably null |
Het |
Man1a2 |
T |
C |
3: 100,551,873 (GRCm39) |
Y280C |
probably damaging |
Het |
Mgat4d |
T |
C |
8: 84,094,731 (GRCm39) |
I256T |
probably damaging |
Het |
Mmrn1 |
A |
G |
6: 60,921,557 (GRCm39) |
K5E |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,162,804 (GRCm39) |
|
probably benign |
Het |
Or2at4 |
A |
T |
7: 99,384,478 (GRCm39) |
I43F |
probably damaging |
Het |
Or7g18 |
A |
T |
9: 18,787,003 (GRCm39) |
I127L |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,727,507 (GRCm39) |
D644G |
probably damaging |
Het |
Pole |
T |
C |
5: 110,485,098 (GRCm39) |
V2280A |
probably benign |
Het |
Ptprf |
T |
A |
4: 118,134,567 (GRCm39) |
M24L |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,542,282 (GRCm39) |
N337S |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,820,977 (GRCm39) |
F141L |
probably damaging |
Het |
Shroom3 |
C |
A |
5: 93,090,048 (GRCm39) |
R933S |
probably damaging |
Het |
Slc25a32 |
G |
A |
15: 38,961,002 (GRCm39) |
T227I |
probably damaging |
Het |
Slc7a1 |
A |
G |
5: 148,274,002 (GRCm39) |
F396L |
possibly damaging |
Het |
Smok2a |
G |
A |
17: 13,445,377 (GRCm39) |
R318H |
probably benign |
Het |
Sntg2 |
A |
G |
12: 30,362,569 (GRCm39) |
V59A |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,454,558 (GRCm39) |
|
probably null |
Het |
Tnfrsf1a |
G |
A |
6: 125,333,827 (GRCm39) |
V27I |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,560,200 (GRCm39) |
T648A |
probably benign |
Het |
Tpbg |
A |
G |
9: 85,727,252 (GRCm39) |
Y407C |
probably damaging |
Het |
Wbp2nl |
A |
T |
15: 82,192,762 (GRCm39) |
M149L |
probably benign |
Het |
Yif1a |
T |
A |
19: 5,141,625 (GRCm39) |
M181K |
probably benign |
Het |
Zkscan8 |
A |
G |
13: 21,710,729 (GRCm39) |
L127S |
probably damaging |
Het |
|
Other mutations in Slc24a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2014-05-07 |