Incidental Mutation 'R1577:Slc24a2'
ID |
171210 |
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 |
039615-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R1577 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
86901361-87148714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86909648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 690
(Y690C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044990]
[ENSMUST00000107155]
[ENSMUST00000107157]
[ENSMUST00000107158]
|
AlphaFold |
Q14BI1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044990
AA Change: Y641C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043937 Gene: ENSMUSG00000037996 AA Change: Y641C
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: Y624C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102773 Gene: ENSMUSG00000037996 AA Change: Y624C
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: Y645C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102775 Gene: ENSMUSG00000037996 AA Change: Y645C
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: Y690C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102776 Gene: ENSMUSG00000037996 AA Change: Y690C
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
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.3%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,133,264 (GRCm39) |
N404S |
possibly damaging |
Het |
Cep85 |
T |
C |
4: 133,879,599 (GRCm39) |
E383G |
probably damaging |
Het |
Chst4 |
A |
T |
8: 110,756,476 (GRCm39) |
H379Q |
probably benign |
Het |
Clca3b |
A |
T |
3: 144,529,280 (GRCm39) |
I798N |
probably damaging |
Het |
Cldnd1 |
T |
G |
16: 58,553,016 (GRCm39) |
L159R |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,906,104 (GRCm39) |
E834G |
probably damaging |
Het |
Col2a1 |
C |
T |
15: 97,877,083 (GRCm39) |
R1065Q |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,415,162 (GRCm39) |
D674G |
probably damaging |
Het |
Dntt |
A |
G |
19: 41,044,224 (GRCm39) |
Y463C |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,819,241 (GRCm39) |
E257G |
probably benign |
Het |
Eif4b |
C |
T |
15: 101,998,336 (GRCm39) |
R339* |
probably null |
Het |
Fat1 |
C |
T |
8: 45,476,420 (GRCm39) |
T1822M |
probably benign |
Het |
Fgd3 |
T |
C |
13: 49,435,413 (GRCm39) |
N282D |
probably damaging |
Het |
Fmo4 |
T |
C |
1: 162,631,269 (GRCm39) |
M233V |
possibly damaging |
Het |
Gabbr2 |
T |
A |
4: 46,684,319 (GRCm39) |
M652L |
probably benign |
Het |
Gal3st2c |
G |
A |
1: 93,934,650 (GRCm39) |
V13M |
probably damaging |
Het |
Gapvd1 |
C |
T |
2: 34,599,240 (GRCm39) |
G686D |
probably damaging |
Het |
Gdap1l1 |
T |
G |
2: 163,280,524 (GRCm39) |
L20R |
probably damaging |
Het |
Gm5800 |
A |
T |
14: 51,952,016 (GRCm39) |
M82K |
probably benign |
Het |
Grm6 |
T |
A |
11: 50,753,972 (GRCm39) |
C759S |
probably damaging |
Het |
Hs3st1 |
A |
T |
5: 39,772,393 (GRCm39) |
D83E |
probably benign |
Het |
Il12rb1 |
A |
G |
8: 71,263,250 (GRCm39) |
D39G |
probably damaging |
Het |
Ldhb |
C |
A |
6: 142,438,324 (GRCm39) |
K244N |
possibly damaging |
Het |
Lypd6 |
C |
T |
2: 50,080,710 (GRCm39) |
R133* |
probably null |
Het |
Med13l |
G |
A |
5: 118,859,457 (GRCm39) |
G215S |
probably damaging |
Het |
Ncoa1 |
T |
C |
12: 4,345,196 (GRCm39) |
D606G |
probably damaging |
Het |
Noc2l |
C |
T |
4: 156,325,079 (GRCm39) |
T151M |
probably damaging |
Het |
Or10q3 |
T |
C |
19: 11,847,741 (GRCm39) |
T280A |
probably damaging |
Het |
Or2ag2 |
T |
C |
7: 106,485,217 (GRCm39) |
K269R |
probably benign |
Het |
Or2at4 |
T |
C |
7: 99,384,563 (GRCm39) |
L71P |
probably damaging |
Het |
Or2t26 |
T |
A |
11: 49,040,016 (GRCm39) |
C311S |
probably benign |
Het |
Or5aq1b |
T |
C |
2: 86,901,741 (GRCm39) |
T246A |
probably benign |
Het |
Ppm1l |
G |
A |
3: 69,460,403 (GRCm39) |
G327R |
probably damaging |
Het |
Rapgef5 |
C |
T |
12: 117,558,911 (GRCm39) |
A282V |
probably benign |
Het |
Rnf139 |
T |
C |
15: 58,771,367 (GRCm39) |
V464A |
probably damaging |
Het |
Rprd2 |
C |
T |
3: 95,672,047 (GRCm39) |
E1119K |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,219,001 (GRCm39) |
T112I |
probably benign |
Het |
Skint6 |
T |
C |
4: 113,005,720 (GRCm39) |
T363A |
possibly damaging |
Het |
Slc22a16 |
G |
T |
10: 40,479,811 (GRCm39) |
E607* |
probably null |
Het |
Slc25a23 |
T |
C |
17: 57,354,306 (GRCm39) |
S115G |
probably benign |
Het |
Slc4a3 |
T |
C |
1: 75,527,535 (GRCm39) |
L168P |
probably damaging |
Het |
Spats2 |
T |
A |
15: 99,076,333 (GRCm39) |
I137N |
possibly damaging |
Het |
Stard4 |
A |
T |
18: 33,338,151 (GRCm39) |
V133D |
probably damaging |
Het |
Syn3 |
A |
G |
10: 86,284,728 (GRCm39) |
|
probably null |
Het |
Tfpi |
A |
G |
2: 84,263,447 (GRCm39) |
I305T |
probably damaging |
Het |
Tmtc1 |
T |
A |
6: 148,314,318 (GRCm39) |
|
probably null |
Het |
Tpcn1 |
A |
C |
5: 120,682,485 (GRCm39) |
W508G |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,030,974 (GRCm39) |
N406K |
possibly damaging |
Het |
Xrcc1 |
T |
A |
7: 24,265,052 (GRCm39) |
L118* |
probably null |
Het |
Zbtb5 |
T |
C |
4: 44,995,129 (GRCm39) |
Y85C |
probably damaging |
Het |
Zfand4 |
C |
A |
6: 116,306,373 (GRCm39) |
Y735* |
probably null |
Het |
Zfp180 |
G |
T |
7: 23,805,333 (GRCm39) |
C584F |
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 |
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'- GCACAAGCTGCCTCTTCTCAAGAC -3'
(R):5'- TCCTCAAGCATAGACAGGCATCCTC -3'
Sequencing Primer
(F):5'- TCTTCTCAAGACTGCAAGGAGC -3'
(R):5'- GCATAGACAGGCATCCTCTAGTG -3'
|
Posted On |
2014-04-13 |