Incidental Mutation 'R3933:Slc24a2'
| ID |
308547 |
| 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 |
040920-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R3933 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
86901361-87148714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87094422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 366
(T366A)
|
| 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
|
| 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
AA Change: T366A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
AA Change: T366A
| 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 |
unknown
Transcript: ENSMUST00000146815
AA Change: T34A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155361
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
96% (43/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,304,856 (GRCm39) |
F3350L |
probably damaging |
Het |
| Acp6 |
T |
C |
3: 97,073,499 (GRCm39) |
V146A |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,680,749 (GRCm39) |
I630V |
probably benign |
Het |
| Astn2 |
G |
A |
4: 66,322,192 (GRCm39) |
R136C |
unknown |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| C1rl |
T |
A |
6: 124,485,781 (GRCm39) |
L384* |
probably null |
Het |
| Ccdc6 |
TCCGCCGCCGCC |
TCCGCCGCC |
10: 70,025,000 (GRCm39) |
|
probably benign |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ercc5 |
T |
A |
1: 44,207,016 (GRCm39) |
M643K |
probably benign |
Het |
| Fut8 |
A |
C |
12: 77,522,033 (GRCm39) |
K557N |
probably damaging |
Het |
| Hsdl2 |
T |
C |
4: 59,597,274 (GRCm39) |
Y88H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Lepr |
T |
C |
4: 101,622,498 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,566 (GRCm39) |
|
probably null |
Het |
| Mei1 |
A |
G |
15: 81,967,353 (GRCm39) |
K310E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,292,601 (GRCm39) |
V438A |
possibly damaging |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or4f17-ps1 |
T |
C |
2: 111,358,300 (GRCm39) |
Y232H |
probably damaging |
Het |
| Or5aq6 |
T |
A |
2: 86,923,106 (GRCm39) |
I212F |
probably benign |
Het |
| Parp2 |
G |
A |
14: 51,056,844 (GRCm39) |
V323M |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,979,314 (GRCm39) |
S161P |
probably benign |
Het |
| Pold3 |
T |
C |
7: 99,770,608 (GRCm39) |
E8G |
probably damaging |
Het |
| Pomt1 |
G |
A |
2: 32,135,631 (GRCm39) |
V332I |
probably benign |
Het |
| Ppp2ca |
T |
A |
11: 52,010,089 (GRCm39) |
N232K |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,101,318 (GRCm39) |
D2274V |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,835,950 (GRCm39) |
V464I |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Scai |
A |
T |
2: 38,965,064 (GRCm39) |
D593E |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,608,830 (GRCm39) |
I320V |
probably benign |
Het |
| Syngr2 |
C |
A |
11: 117,704,243 (GRCm39) |
P206Q |
probably damaging |
Het |
| Tatdn3 |
A |
T |
1: 190,778,521 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,201,260 (GRCm39) |
A415T |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,435 (GRCm39) |
M258V |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,576,872 (GRCm39) |
R561C |
probably damaging |
Het |
| Yju2b |
G |
A |
8: 84,986,981 (GRCm39) |
A172V |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
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 |
|
R3806:Slc24a2
|
UTSW |
4 |
87,146,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- TAGCTTGGATTGGCACAGTAGC -3'
(R):5'- TGTTGTTTCAAACAGTGAGGC -3'
Sequencing Primer
(F):5'- AGTAGCCTGAGACCACTCCTTG -3'
(R):5'- GGCTGTATTATTTTTACCTTTTCAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation