Incidental Mutation 'R6756:Slc24a2'
ID 531055
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 044872-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6756 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 86901361-87148714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87094529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 330 (I330T)
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

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
SMART Domains Protein: ENSMUSP00000102773
Gene: ENSMUSG00000037996

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
SMART Domains Protein: ENSMUSP00000102775
Gene: ENSMUSG00000037996

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: I330T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102776
Gene: ENSMUSG00000037996
AA Change: I330T

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: ENSMUST00000134248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155361
Predicted Effect probably benign
Transcript: ENSMUST00000146815
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,298,512 (GRCm39) probably null Het
Adam7 T C 14: 68,762,728 (GRCm39) T166A probably benign Het
Ahnak G A 19: 8,984,925 (GRCm39) V2070M possibly damaging Het
Atp6v1a T A 16: 43,909,421 (GRCm39) T537S probably benign Het
Atp8b3 C T 10: 80,361,895 (GRCm39) E719K possibly damaging Het
Clba1 T C 12: 112,775,820 (GRCm39) L192P probably damaging Het
Dpy19l1 T C 9: 24,385,080 (GRCm39) T250A probably damaging Het
Fra10ac1 A C 19: 38,204,313 (GRCm39) Y88D probably damaging Het
Gm21738 C T 14: 19,418,824 (GRCm38) V35I possibly damaging Het
H2-M9 G T 17: 36,953,227 (GRCm39) H27N probably damaging Het
Hivep2 T C 10: 14,008,303 (GRCm39) C1634R probably damaging Het
Meiob A T 17: 25,058,506 (GRCm39) T470S possibly damaging Het
Ms4a7 T C 19: 11,301,889 (GRCm39) H35R possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nf1 T A 11: 79,335,413 (GRCm39) probably null Het
Npc1l1 T C 11: 6,165,153 (GRCm39) Y1053C probably damaging Het
Or4p21 T C 2: 88,277,078 (GRCm39) D68G possibly damaging Het
Or51a25 T C 7: 102,373,295 (GRCm39) N134S probably benign Het
Pcdh10 T C 3: 45,334,541 (GRCm39) V285A possibly damaging Het
Phldb2 A T 16: 45,628,683 (GRCm39) C550S probably benign Het
Phldb3 T C 7: 24,326,756 (GRCm39) Y595H probably damaging Het
Plekha8 C T 6: 54,601,125 (GRCm39) Q288* probably null Het
Ppp1r36 G A 12: 76,474,696 (GRCm39) A64T probably benign Het
Ptprd T C 4: 75,873,536 (GRCm39) T1320A probably damaging Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Recql4 T C 15: 76,589,059 (GRCm39) D943G probably benign Het
Srcin1 T C 11: 97,425,836 (GRCm39) D433G probably damaging Het
Upb1 A G 10: 75,264,135 (GRCm39) T194A possibly 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
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
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'- AAGGCTTCAATCGTGTGAGG -3'
(R):5'- GCCCTGTCTTCATAGAGGTC -3'

Sequencing Primer
(F):5'- CAATCGTGTGAGGTATGTATTAAGG -3'
(R):5'- CCTGTCTTCATAGAGGTCACAAAGG -3'
Posted On 2018-08-01