Incidental Mutation 'PIT4403001:Slc24a2'
ID |
555462 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4403001 (G1)
|
Quality Score |
213.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
86901361-87148714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86950523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 425
(F425L)
|
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: F380L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000043937 Gene: ENSMUSG00000037996 AA Change: F380L
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: F363L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102773 Gene: ENSMUSG00000037996 AA Change: F363L
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: F380L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102775 Gene: ENSMUSG00000037996 AA Change: F380L
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: F425L
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102776 Gene: ENSMUSG00000037996 AA Change: F425L
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 |
|
Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 84.9%
- 20x: 73.1%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh4 |
T |
C |
3: 138,129,939 (GRCm39) |
V255A |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,983,540 (GRCm39) |
I1608T |
possibly damaging |
Het |
Atm |
A |
T |
9: 53,412,282 (GRCm39) |
D955E |
probably benign |
Het |
Cacybp |
A |
G |
1: 160,033,764 (GRCm39) |
S113P |
probably damaging |
Het |
Cenpu |
C |
T |
8: 47,015,564 (GRCm39) |
P160S |
possibly damaging |
Het |
Clstn3 |
C |
T |
6: 124,434,982 (GRCm39) |
G348D |
probably damaging |
Het |
Cmtr1 |
T |
G |
17: 29,917,047 (GRCm39) |
|
probably null |
Het |
Dlgap2 |
T |
C |
8: 14,881,528 (GRCm39) |
S867P |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,184,831 (GRCm39) |
C1654S |
probably damaging |
Het |
Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
Garnl3 |
A |
T |
2: 32,880,770 (GRCm39) |
L874Q |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,315 (GRCm39) |
V478A |
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,972,134 (GRCm39) |
I417T |
possibly damaging |
Het |
Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
Ighv1-4 |
A |
G |
12: 114,450,824 (GRCm39) |
S95P |
probably damaging |
Het |
Jak3 |
C |
T |
8: 72,136,993 (GRCm39) |
T723I |
probably benign |
Het |
Jup |
A |
G |
11: 100,268,913 (GRCm39) |
|
probably null |
Het |
Kcng3 |
A |
G |
17: 83,895,611 (GRCm39) |
L285S |
probably damaging |
Het |
Kmt2b |
G |
A |
7: 30,285,114 (GRCm39) |
P593S |
probably damaging |
Het |
Matcap1 |
T |
C |
8: 106,011,376 (GRCm39) |
N253D |
probably benign |
Het |
Mstn |
T |
C |
1: 53,100,944 (GRCm39) |
M7T |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,077,533 (GRCm39) |
K889N |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,124,805 (GRCm39) |
T1787A |
probably damaging |
Het |
Nlrp14 |
A |
T |
7: 106,784,099 (GRCm39) |
Q607L |
possibly damaging |
Het |
Ntf3 |
C |
T |
6: 126,078,789 (GRCm39) |
R239Q |
probably damaging |
Het |
Nup85 |
G |
T |
11: 115,472,646 (GRCm39) |
R492L |
probably damaging |
Het |
Ogfod3 |
A |
C |
11: 121,087,561 (GRCm39) |
|
probably null |
Het |
Or1j18 |
T |
A |
2: 36,624,930 (GRCm39) |
I199K |
probably damaging |
Het |
Or4c115 |
T |
A |
2: 88,927,420 (GRCm39) |
M284L |
probably benign |
Het |
Or4k40 |
A |
T |
2: 111,251,165 (GRCm39) |
F44I |
probably benign |
Het |
Or52h2 |
A |
G |
7: 103,838,667 (GRCm39) |
V249A |
probably benign |
Het |
Or8d1 |
T |
C |
9: 38,766,676 (GRCm39) |
I106T |
probably benign |
Het |
Oxct2a |
A |
T |
4: 123,216,237 (GRCm39) |
D381E |
probably damaging |
Het |
Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
Pdgfc |
C |
T |
3: 81,082,268 (GRCm39) |
P154S |
probably damaging |
Het |
Phkg1 |
T |
C |
5: 129,894,772 (GRCm39) |
T260A |
probably benign |
Het |
Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
Plekhj1 |
C |
T |
10: 80,632,293 (GRCm39) |
D150N |
unknown |
Het |
Plppr1 |
T |
G |
4: 49,337,648 (GRCm39) |
N316K |
probably benign |
Het |
Pola2 |
A |
C |
19: 6,009,074 (GRCm39) |
S95A |
possibly damaging |
Het |
Polq |
G |
A |
16: 36,880,949 (GRCm39) |
D1038N |
probably benign |
Het |
Prim1 |
A |
T |
10: 127,858,745 (GRCm39) |
I218L |
probably benign |
Het |
Prkcz |
A |
G |
4: 155,377,613 (GRCm39) |
|
probably null |
Het |
Ptgr1 |
T |
C |
4: 58,968,794 (GRCm39) |
K282E |
probably benign |
Het |
Rbm5 |
A |
G |
9: 107,637,535 (GRCm39) |
M132T |
probably damaging |
Het |
Scn2a |
C |
T |
2: 65,542,252 (GRCm39) |
T785M |
probably damaging |
Het |
Setx |
A |
G |
2: 29,023,967 (GRCm39) |
E141G |
probably damaging |
Het |
Smarcc2 |
A |
T |
10: 128,298,893 (GRCm39) |
H92L |
probably damaging |
Het |
Tatdn1 |
C |
G |
15: 58,777,596 (GRCm39) |
E220Q |
probably damaging |
Het |
Tmc7 |
C |
A |
7: 118,146,623 (GRCm39) |
Q488H |
probably benign |
Het |
Tmc7 |
T |
G |
7: 118,146,624 (GRCm39) |
Q488P |
possibly damaging |
Het |
Tmem45b |
C |
T |
9: 31,338,188 (GRCm39) |
D264N |
probably benign |
Het |
Tmtc4 |
A |
C |
14: 123,210,641 (GRCm39) |
S72R |
probably benign |
Het |
Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
Ubac1 |
A |
T |
2: 25,896,609 (GRCm39) |
M302K |
probably benign |
Het |
Ubox5 |
A |
G |
2: 130,442,597 (GRCm39) |
I30T |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,615,461 (GRCm39) |
N114S |
possibly damaging |
Het |
Xpo5 |
T |
A |
17: 46,550,495 (GRCm39) |
D992E |
probably benign |
Het |
Zfhx2 |
G |
A |
14: 55,312,437 (GRCm39) |
P86S |
probably benign |
Het |
Zfp335 |
T |
C |
2: 164,735,636 (GRCm39) |
H1106R |
possibly damaging |
Het |
Zfp653 |
T |
A |
9: 21,977,053 (GRCm39) |
Q166L |
probably damaging |
Het |
Zp3r |
T |
A |
1: 130,510,609 (GRCm39) |
N436I |
possibly damaging |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCATTTCATTGTTTAGGAAGGGC -3'
(R):5'- TCCACCAAGGTAAGAGAGCG -3'
Sequencing Primer
(F):5'- GGGTTCCCACACTGGTTCTG -3'
(R):5'- CAAGGTAAGAGAGCGCCCCG -3'
|
Posted On |
2019-06-07 |