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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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