Incidental Mutation 'R3806:Slc24a2'
| ID |
274584 |
| 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 |
040763-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R3806 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
86901361-87148714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87146021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 11
(L11H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044990]
[ENSMUST00000107155]
[ENSMUST00000107157]
[ENSMUST00000107158]
|
| AlphaFold |
Q14BI1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044990
AA Change: L11H
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043937
Gene: ENSMUSG00000037996
AA Change: L11H
| 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 |
possibly damaging
Transcript: ENSMUST00000107155
AA Change: L11H
PolyPhen 2
Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102773
Gene: ENSMUSG00000037996
AA Change: L11H
| 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 |
possibly damaging
Transcript: ENSMUST00000107157
AA Change: L11H
PolyPhen 2
Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102775
Gene: ENSMUSG00000037996
AA Change: L11H
| 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 |
possibly damaging
Transcript: ENSMUST00000107158
AA Change: L11H
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
AA Change: L11H
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,004,410 (GRCm39) |
N108S |
probably benign |
Het |
| Ankmy1 |
A |
G |
1: 92,811,480 (GRCm39) |
I636T |
possibly damaging |
Het |
| Bbs9 |
T |
A |
9: 22,798,926 (GRCm39) |
D851E |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,227,598 (GRCm39) |
T62A |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,680,773 (GRCm39) |
K248N |
probably damaging |
Het |
| Clcnka |
T |
C |
4: 141,114,601 (GRCm39) |
E615G |
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cpxm2 |
C |
T |
7: 131,681,820 (GRCm39) |
M236I |
probably benign |
Het |
| Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
| Fam131a |
G |
A |
16: 20,514,608 (GRCm39) |
V70M |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxl15 |
G |
C |
19: 46,317,891 (GRCm39) |
R191P |
possibly damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,183 (GRCm39) |
T315A |
probably benign |
Het |
| Fer1l4 |
C |
T |
2: 155,887,603 (GRCm39) |
G531D |
probably damaging |
Het |
| Gem |
C |
T |
4: 11,705,965 (GRCm39) |
Q18* |
probably null |
Het |
| Hemk1 |
T |
A |
9: 107,214,229 (GRCm39) |
I68F |
probably damaging |
Het |
| Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
| Ighv5-17 |
C |
A |
12: 113,822,918 (GRCm39) |
A68S |
probably benign |
Het |
| Ip6k3 |
T |
C |
17: 27,363,974 (GRCm39) |
H358R |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
C |
T |
9: 44,731,653 (GRCm39) |
|
probably benign |
Het |
| Krt16 |
G |
T |
11: 100,139,566 (GRCm39) |
R51S |
unknown |
Het |
| Lamtor1 |
G |
A |
7: 101,560,552 (GRCm39) |
V156I |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
| Maco1 |
C |
T |
4: 134,557,891 (GRCm39) |
M207I |
probably benign |
Het |
| Man1c1 |
A |
T |
4: 134,430,662 (GRCm39) |
L40Q |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,221 (GRCm39) |
N145S |
probably benign |
Het |
| Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,367,471 (GRCm39) |
I2964T |
possibly damaging |
Het |
| Naip2 |
T |
A |
13: 100,289,142 (GRCm39) |
Q1196L |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,532,505 (GRCm39) |
G1738S |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,104,271 (GRCm39) |
E44G |
probably benign |
Het |
| Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
| Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
| Or5d18 |
A |
G |
2: 87,864,911 (GRCm39) |
S191P |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,543,843 (GRCm39) |
|
probably null |
Het |
| Pcdha2 |
G |
A |
18: 37,072,582 (GRCm39) |
R71H |
probably benign |
Het |
| Pcdha2 |
G |
T |
18: 37,074,744 (GRCm39) |
E792* |
probably null |
Het |
| Pcnx1 |
A |
G |
12: 81,996,911 (GRCm39) |
T936A |
possibly damaging |
Het |
| Pofut2 |
T |
C |
10: 77,096,640 (GRCm39) |
Y122H |
probably damaging |
Het |
| Psg16 |
A |
G |
7: 16,824,609 (GRCm39) |
E131G |
probably benign |
Het |
| Psmd12 |
T |
G |
11: 107,386,591 (GRCm39) |
D387E |
probably benign |
Het |
| Rab6a |
A |
G |
7: 100,257,431 (GRCm39) |
M1V |
probably null |
Het |
| Ripk3 |
T |
C |
14: 56,023,725 (GRCm39) |
R29G |
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
| Ruvbl2 |
A |
G |
7: 45,071,614 (GRCm39) |
V423A |
possibly damaging |
Het |
| Rxylt1 |
A |
T |
10: 121,917,514 (GRCm39) |
V333E |
possibly damaging |
Het |
| Scgb2b18 |
T |
G |
7: 32,872,563 (GRCm39) |
M81L |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,248,019 (GRCm39) |
E325G |
probably benign |
Het |
| Syt16 |
A |
G |
12: 74,276,172 (GRCm39) |
E212G |
possibly damaging |
Het |
| Them6 |
A |
G |
15: 74,593,367 (GRCm39) |
D75G |
probably damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,773,029 (GRCm39) |
A417V |
unknown |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zbtb22 |
C |
T |
17: 34,135,920 (GRCm39) |
|
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,046 (GRCm39) |
D225G |
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 |
|
|
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 |
|
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'- TCTTTGACGGTGACCCTGTG -3'
(R):5'- GAGCTATTTTCCCCGTGAAGAG -3'
Sequencing Primer
(F):5'- TGGGGCCACTCATATCACTG -3'
(R):5'- TTTTCCCCGTGAAGAGTAAAGATCCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation