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) question?
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

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 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

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 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

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 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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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