Incidental Mutation 'R2043:Slc24a2'
ID |
225173 |
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 |
040050-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R2043 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
86901361-87148714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86914882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 519
(M519K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044990]
[ENSMUST00000107155]
[ENSMUST00000107157]
[ENSMUST00000107158]
|
AlphaFold |
Q14BI1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044990
AA Change: M536K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043937 Gene: ENSMUSG00000037996 AA Change: M536K
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 damaging
Transcript: ENSMUST00000107155
AA Change: M519K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102773 Gene: ENSMUSG00000037996 AA Change: M519K
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 damaging
Transcript: ENSMUST00000107157
AA Change: M540K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102775 Gene: ENSMUSG00000037996 AA Change: M540K
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 damaging
Transcript: ENSMUST00000107158
AA Change: M585K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102776 Gene: ENSMUSG00000037996 AA Change: M585K
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: ENSMUST00000140780
|
Meta Mutation Damage Score |
0.9447 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (47/49) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
G |
8: 25,486,669 (GRCm39) |
|
probably null |
Het |
Adnp2 |
A |
C |
18: 80,171,541 (GRCm39) |
M956R |
probably damaging |
Het |
Aldh1l1 |
T |
A |
6: 90,534,314 (GRCm39) |
D36E |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,804,249 (GRCm39) |
|
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,872,890 (GRCm39) |
D718G |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,576,616 (GRCm39) |
P857L |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,738,271 (GRCm39) |
K60R |
possibly damaging |
Het |
Bub1 |
A |
T |
2: 127,646,140 (GRCm39) |
C947S |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,573,049 (GRCm39) |
G2017D |
probably benign |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Ccdc110 |
T |
C |
8: 46,395,864 (GRCm39) |
M585T |
probably benign |
Het |
Cep85l |
A |
T |
10: 53,234,224 (GRCm39) |
N51K |
possibly damaging |
Het |
Cftr |
T |
C |
6: 18,320,934 (GRCm39) |
F1415L |
probably benign |
Het |
Cln5 |
T |
C |
14: 103,313,380 (GRCm39) |
S211P |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,386,991 (GRCm39) |
D378E |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,560,509 (GRCm39) |
|
probably benign |
Het |
Dsn1 |
G |
A |
2: 156,847,273 (GRCm39) |
S55L |
possibly damaging |
Het |
Eif5b |
T |
C |
1: 38,080,900 (GRCm39) |
F747S |
probably damaging |
Het |
Entrep3 |
A |
G |
3: 89,092,874 (GRCm39) |
Y251C |
probably damaging |
Het |
Fbxo25 |
A |
G |
8: 13,971,905 (GRCm39) |
I86V |
probably damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Glcci1 |
T |
A |
6: 8,582,590 (GRCm39) |
I130K |
probably damaging |
Het |
Gm5424 |
A |
G |
10: 61,906,990 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma |
G |
A |
11: 98,557,046 (GRCm39) |
V54M |
possibly damaging |
Het |
H3c3 |
A |
G |
13: 23,929,278 (GRCm39) |
F68S |
probably damaging |
Het |
Heatr3 |
T |
A |
8: 88,874,322 (GRCm39) |
|
probably benign |
Het |
Hspa13 |
A |
G |
16: 75,555,156 (GRCm39) |
L310S |
probably benign |
Het |
Il6st |
A |
C |
13: 112,616,753 (GRCm39) |
Q100P |
probably benign |
Het |
Ly6g6e |
G |
A |
17: 35,296,840 (GRCm39) |
R27Q |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,196,192 (GRCm39) |
I524K |
probably damaging |
Het |
Myo18a |
T |
C |
11: 77,714,189 (GRCm39) |
I761T |
probably damaging |
Het |
Mypop |
T |
C |
7: 18,734,944 (GRCm39) |
|
probably benign |
Het |
Or51ag1 |
A |
G |
7: 103,156,150 (GRCm39) |
M1T |
probably null |
Het |
Pcdh20 |
G |
A |
14: 88,704,591 (GRCm39) |
T903I |
probably benign |
Het |
Pdk4 |
A |
T |
6: 5,485,502 (GRCm39) |
C396S |
probably benign |
Het |
Piwil2 |
A |
G |
14: 70,628,919 (GRCm39) |
V699A |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,498,530 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
T |
A |
12: 55,723,811 (GRCm39) |
I1572L |
probably damaging |
Het |
Rasgrf2 |
T |
A |
13: 92,167,351 (GRCm39) |
M241L |
possibly damaging |
Het |
Ryr1 |
C |
T |
7: 28,759,056 (GRCm39) |
R3374H |
probably damaging |
Het |
Smg9 |
T |
A |
7: 24,105,001 (GRCm39) |
I67N |
possibly damaging |
Het |
Spart |
G |
A |
3: 55,034,969 (GRCm39) |
A452T |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,648,453 (GRCm39) |
F4686Y |
probably benign |
Het |
Zfp146 |
T |
C |
7: 29,861,664 (GRCm39) |
K126R |
possibly damaging |
Het |
Zfp386 |
T |
A |
12: 116,022,781 (GRCm39) |
D131E |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,509,246 (GRCm39) |
D366G |
probably damaging |
Het |
Zfp729a |
T |
C |
13: 67,769,291 (GRCm39) |
K313E |
probably damaging |
Het |
Zfp955a |
G |
A |
17: 33,461,527 (GRCm39) |
H202Y |
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 |
|
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 |
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'- GCCAGCTCATGTTTCTACAGC -3'
(R):5'- CCTGGGTATGGATGTTAACGC -3'
Sequencing Primer
(F):5'- GCTCATGTTTCTACAGCTTAGAAGAC -3'
(R):5'- GGATGTTAACGCTGTATAAACTCC -3'
|
Posted On |
2014-08-25 |