Incidental Mutation 'R7087:Slc24a2'
ID |
568384 |
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 |
045181-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R7087 (G1)
|
Quality Score |
203.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
86901361-87148714 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 86909456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044990]
[ENSMUST00000107155]
[ENSMUST00000107157]
[ENSMUST00000107158]
|
AlphaFold |
Q14BI1 |
Predicted Effect |
probably null
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 null
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
|
SMART Domains |
Protein: ENSMUSP00000102776 Gene: ENSMUSG00000037996
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (43/44) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
T |
A |
7: 119,373,870 (GRCm39) |
V252D |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,271,856 (GRCm39) |
L1634P |
probably damaging |
Het |
Arhgef4 |
A |
T |
1: 34,850,767 (GRCm39) |
R438W |
probably damaging |
Het |
Asb3 |
A |
C |
11: 30,948,321 (GRCm39) |
K38T |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,074,269 (GRCm39) |
L328Q |
probably damaging |
Het |
BC030500 |
T |
A |
8: 59,365,388 (GRCm39) |
I13N |
unknown |
Het |
Cbarp |
A |
G |
10: 79,972,242 (GRCm39) |
S136P |
probably damaging |
Het |
Ccdc18 |
T |
A |
5: 108,343,988 (GRCm39) |
D910E |
probably benign |
Het |
Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,227,483 (GRCm39) |
V2535A |
probably benign |
Het |
Ddx39b |
C |
T |
17: 35,472,025 (GRCm39) |
R355C |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,543 (GRCm39) |
T338A |
probably benign |
Het |
Dpysl3 |
T |
C |
18: 43,496,595 (GRCm39) |
D147G |
probably damaging |
Het |
Eif3i |
G |
T |
4: 129,486,104 (GRCm39) |
H284Q |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,779,650 (GRCm39) |
L42Q |
probably null |
Het |
Exoc3l2 |
A |
G |
7: 19,203,582 (GRCm39) |
E58G |
|
Het |
Fgf18 |
C |
T |
11: 33,074,677 (GRCm39) |
R98Q |
probably damaging |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Gp2 |
T |
A |
7: 119,049,455 (GRCm39) |
T361S |
probably damaging |
Het |
Gtsf1 |
A |
T |
15: 103,333,876 (GRCm39) |
H33Q |
probably damaging |
Het |
Hoxa4 |
G |
A |
6: 52,168,271 (GRCm39) |
T133M |
probably damaging |
Het |
Hspb7 |
C |
A |
4: 141,149,866 (GRCm39) |
T84K |
possibly damaging |
Het |
Kcnq4 |
C |
T |
4: 120,561,596 (GRCm39) |
R491H |
probably damaging |
Het |
Kdm7a |
C |
T |
6: 39,152,315 (GRCm39) |
R127H |
probably benign |
Het |
Lsm10 |
C |
T |
4: 125,991,952 (GRCm39) |
R103C |
probably damaging |
Het |
Mgme1 |
T |
C |
2: 144,114,101 (GRCm39) |
S68P |
probably damaging |
Het |
Nes |
G |
T |
3: 87,887,065 (GRCm39) |
V1775L |
probably benign |
Het |
Nfrkb |
C |
T |
9: 31,331,228 (GRCm39) |
Q1250* |
probably null |
Het |
Or4s2 |
T |
C |
2: 88,473,197 (GRCm39) |
F29L |
probably damaging |
Het |
Phf21b |
A |
T |
15: 84,676,033 (GRCm39) |
L338H |
probably damaging |
Het |
Pira12 |
G |
A |
7: 3,900,218 (GRCm39) |
A128V |
probably benign |
Het |
Ppp2r5b |
A |
G |
19: 6,282,580 (GRCm39) |
V190A |
possibly damaging |
Het |
Prmt1 |
T |
C |
7: 44,631,007 (GRCm39) |
|
probably null |
Het |
Rusc1 |
A |
G |
3: 88,996,799 (GRCm39) |
V639A |
probably damaging |
Het |
Slc39a10 |
T |
C |
1: 46,874,880 (GRCm39) |
T141A |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,002,076 (GRCm39) |
M69L |
probably benign |
Het |
St8sia5 |
A |
C |
18: 77,342,238 (GRCm39) |
Q316P |
possibly damaging |
Het |
Svs3a |
T |
C |
2: 164,131,717 (GRCm39) |
I96T |
possibly damaging |
Het |
Syne1 |
T |
A |
10: 5,492,024 (GRCm39) |
|
probably benign |
Het |
Trappc3 |
T |
C |
4: 126,166,474 (GRCm39) |
S16P |
probably benign |
Het |
Vmn2r44 |
A |
T |
7: 8,381,366 (GRCm39) |
F176I |
probably benign |
Het |
Wnk1 |
C |
T |
6: 120,014,491 (GRCm39) |
E35K |
possibly damaging |
Het |
Zfp354c |
A |
G |
11: 50,706,040 (GRCm39) |
L345P |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,032,469 (GRCm39) |
K490N |
probably damaging |
Het |
Zfp687 |
A |
C |
3: 94,917,524 (GRCm39) |
S709A |
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 |
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 |
|
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'- GAAACAGGCAAGATCTTTATGCTC -3'
(R):5'- GTCCTCCTGGAAGACAAAGTTC -3'
Sequencing Primer
(F):5'- ATATGTATGCATAGCCTCTGTCC -3'
(R):5'- AGACAAAGTTCTCGTGTGCC -3'
|
Posted On |
2019-07-11 |