Incidental Mutation 'R5035:Slc24a2'
ID |
389491 |
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 |
042626-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R5035 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
86901361-87148714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 86929943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 469
(R469S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044990]
[ENSMUST00000107155]
[ENSMUST00000107157]
[ENSMUST00000107158]
|
AlphaFold |
Q14BI1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044990
AA Change: R469S
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000043937 Gene: ENSMUSG00000037996 AA Change: R469S
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: R452S
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102773 Gene: ENSMUSG00000037996 AA Change: R452S
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: R473S
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102775 Gene: ENSMUSG00000037996 AA Change: R473S
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: R518S
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102776 Gene: ENSMUSG00000037996 AA Change: R518S
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 |
0.1766 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
98% (46/47) |
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 |
Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
probably 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 |
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 |
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'- AAGTTACATGCATGTCACCTCAC -3'
(R):5'- GGTGCTCTTACAAAAGAAAGCCC -3'
Sequencing Primer
(F):5'- ACCTTTCTCTTTAAACACAACTGG -3'
(R):5'- CCCATGAAGGCAGCTGAG -3'
|
Posted On |
2016-06-06 |