Incidental Mutation 'R6675:Slc24a5'
ID 527236
Institutional Source Beutler Lab
Gene Symbol Slc24a5
Ensembl Gene ENSMUSG00000035183
Gene Name solute carrier family 24, member 5
Synonyms Oca6, F630045L20Rik, NCX5, NCKX5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6675 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 124910076-124930316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 124922615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 126 (A126S)
Ref Sequence ENSEMBL: ENSMUSP00000063887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070353]
AlphaFold Q8C261
Predicted Effect possibly damaging
Transcript: ENSMUST00000070353
AA Change: A126S

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: A126S

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Na_Ca_ex 72 216 1.1e-24 PFAM
low complexity region 274 290 N/A INTRINSIC
low complexity region 311 324 N/A INTRINSIC
Pfam:Na_Ca_ex 334 485 7.6e-31 PFAM
low complexity region 488 500 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149963
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypopigmentation and ocular albinism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,006,302 (GRCm39) T1268A probably benign Het
Adamts20 A G 15: 94,229,197 (GRCm39) probably null Het
Arhgap45 G T 10: 79,853,938 (GRCm39) D151Y probably null Het
Arhgef40 C A 14: 52,229,098 (GRCm39) L592I probably damaging Het
Ascc3 G T 10: 50,626,659 (GRCm39) E1720* probably null Het
Atp2c1 C T 9: 105,330,732 (GRCm39) probably null Het
Avpi1 G A 19: 42,112,183 (GRCm39) P125L probably benign Het
Cers3 A T 7: 66,435,844 (GRCm39) T232S possibly damaging Het
Cfap53 T C 18: 74,440,447 (GRCm39) probably null Het
Col4a3 T C 1: 82,646,646 (GRCm39) S386P unknown Het
Dhtkd1 A T 2: 5,908,889 (GRCm39) M735K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Gad2 T C 2: 22,563,997 (GRCm39) V400A possibly damaging Het
Gm10801 TC TCGCC 2: 98,494,151 (GRCm39) probably benign Het
Hmgxb3 T G 18: 61,270,648 (GRCm39) D892A possibly damaging Het
Hsd3b2 G A 3: 98,620,788 (GRCm39) T89I probably benign Het
Iars1 C A 13: 49,873,054 (GRCm39) A713D probably damaging Het
Itih1 G A 14: 30,651,798 (GRCm39) T848I possibly damaging Het
Kcne2 A G 16: 92,093,512 (GRCm39) D13G probably benign Het
Klra17 T A 6: 129,849,286 (GRCm39) N96I probably damaging Het
Lrig2 T C 3: 104,365,251 (GRCm39) N634D probably benign Het
Mrc2 T A 11: 105,233,906 (GRCm39) probably null Het
Mroh3 A T 1: 136,118,550 (GRCm39) S558T possibly damaging Het
Ncapg2 G T 12: 116,398,281 (GRCm39) K627N possibly damaging Het
Ncstn A T 1: 171,899,095 (GRCm39) D345E probably damaging Het
Nkx1-1 G T 5: 33,591,223 (GRCm39) A33E unknown Het
Or2n1 T A 17: 38,486,905 (GRCm39) M310K probably benign Het
Or51f2 A G 7: 102,526,480 (GRCm39) E51G possibly damaging Het
Osbpl9 G T 4: 108,991,025 (GRCm39) probably null Het
P2rx6 T C 16: 17,380,032 (GRCm39) V52A probably benign Het
Pcdhgb5 C T 18: 37,864,255 (GRCm39) L17F probably damaging Het
Pdk2 T C 11: 94,919,568 (GRCm39) I273V probably benign Het
Pdpr C T 8: 111,828,532 (GRCm39) Q12* probably null Het
Plxdc2 A G 2: 16,716,932 (GRCm39) T339A probably benign Het
Pramel27 G A 4: 143,579,828 (GRCm39) C471Y probably damaging Het
Retsat T C 6: 72,578,672 (GRCm39) V128A probably benign Het
Rnf17 A G 14: 56,697,432 (GRCm39) E442G probably damaging Het
Sec31b T C 19: 44,512,214 (GRCm39) N560S probably benign Het
Slc22a16 C T 10: 40,449,836 (GRCm39) Q91* probably null Het
Slc26a4 A T 12: 31,590,512 (GRCm39) D380E possibly damaging Het
Stc2 T A 11: 31,310,307 (GRCm39) D243V probably benign Het
Tshz2 G T 2: 169,727,965 (GRCm39) A385S probably damaging Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Vmn1r77 A G 7: 11,775,382 (GRCm39) T53A probably damaging Het
Zeb2 A T 2: 44,887,457 (GRCm39) Y518* probably null Het
Zfp760 T A 17: 21,941,991 (GRCm39) S389T possibly damaging Het
Other mutations in Slc24a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Slc24a5 APN 2 124,922,809 (GRCm39) missense probably damaging 1.00
IGL01307:Slc24a5 APN 2 124,922,800 (GRCm39) missense probably damaging 1.00
IGL01926:Slc24a5 APN 2 124,910,823 (GRCm39) missense probably benign 0.01
IGL02090:Slc24a5 APN 2 124,910,218 (GRCm39) missense probably benign 0.25
IGL02313:Slc24a5 APN 2 124,927,567 (GRCm39) unclassified probably benign
IGL02328:Slc24a5 APN 2 124,922,559 (GRCm39) missense probably damaging 1.00
IGL02743:Slc24a5 APN 2 124,930,154 (GRCm39) missense probably damaging 1.00
IGL02969:Slc24a5 APN 2 124,925,147 (GRCm39) missense probably damaging 1.00
IGL03212:Slc24a5 APN 2 124,922,750 (GRCm39) missense probably damaging 1.00
IGL03258:Slc24a5 APN 2 124,922,625 (GRCm39) critical splice donor site probably null
Scarce UTSW 2 124,922,568 (GRCm39) missense probably damaging 1.00
R0344:Slc24a5 UTSW 2 124,927,621 (GRCm39) missense probably benign 0.03
R0811:Slc24a5 UTSW 2 124,910,724 (GRCm39) missense probably damaging 0.98
R0812:Slc24a5 UTSW 2 124,910,724 (GRCm39) missense probably damaging 0.98
R1018:Slc24a5 UTSW 2 124,910,827 (GRCm39) missense probably damaging 1.00
R1574:Slc24a5 UTSW 2 124,922,782 (GRCm39) missense probably damaging 0.96
R1574:Slc24a5 UTSW 2 124,922,782 (GRCm39) missense probably damaging 0.96
R1753:Slc24a5 UTSW 2 124,925,115 (GRCm39) missense possibly damaging 0.53
R2147:Slc24a5 UTSW 2 124,929,361 (GRCm39) missense probably damaging 1.00
R4934:Slc24a5 UTSW 2 124,929,940 (GRCm39) missense probably damaging 1.00
R4964:Slc24a5 UTSW 2 124,910,188 (GRCm39) missense probably benign 0.20
R4966:Slc24a5 UTSW 2 124,910,188 (GRCm39) missense probably benign 0.20
R5225:Slc24a5 UTSW 2 124,927,739 (GRCm39) missense probably damaging 0.99
R5275:Slc24a5 UTSW 2 124,927,781 (GRCm39) missense probably benign 0.09
R5438:Slc24a5 UTSW 2 124,910,785 (GRCm39) missense probably damaging 1.00
R5866:Slc24a5 UTSW 2 124,927,591 (GRCm39) missense probably damaging 1.00
R6038:Slc24a5 UTSW 2 124,927,651 (GRCm39) missense probably benign 0.04
R6038:Slc24a5 UTSW 2 124,927,651 (GRCm39) missense probably benign 0.04
R6114:Slc24a5 UTSW 2 124,925,012 (GRCm39) missense probably benign 0.01
R6211:Slc24a5 UTSW 2 124,930,171 (GRCm39) missense probably benign 0.23
R6516:Slc24a5 UTSW 2 124,930,027 (GRCm39) missense probably benign 0.01
R6677:Slc24a5 UTSW 2 124,922,615 (GRCm39) missense possibly damaging 0.82
R6826:Slc24a5 UTSW 2 124,910,778 (GRCm39) missense probably benign 0.00
R7100:Slc24a5 UTSW 2 124,922,591 (GRCm39) missense probably damaging 1.00
R7122:Slc24a5 UTSW 2 124,930,111 (GRCm39) missense probably benign 0.15
R7381:Slc24a5 UTSW 2 124,910,869 (GRCm39) missense probably benign 0.29
R7398:Slc24a5 UTSW 2 124,927,694 (GRCm39) nonsense probably null
R7401:Slc24a5 UTSW 2 124,930,111 (GRCm39) missense probably benign 0.15
R8219:Slc24a5 UTSW 2 124,927,575 (GRCm39) critical splice acceptor site probably null
R9227:Slc24a5 UTSW 2 124,922,568 (GRCm39) missense probably damaging 1.00
R9230:Slc24a5 UTSW 2 124,922,568 (GRCm39) missense probably damaging 1.00
X0067:Slc24a5 UTSW 2 124,929,423 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ATTTCCAGCTTGAGTCAATGAGTG -3'
(R):5'- TTCTTACCATGTTGGACAGGAG -3'

Sequencing Primer
(F):5'- CCAGCTTGAGTCAATGAGTGTAATG -3'
(R):5'- ATGTTGGACAGGAGGCCGC -3'
Posted On 2018-07-23