Incidental Mutation 'R7100:Slc24a5'
ID 550747
Institutional Source Beutler Lab
Gene Symbol Slc24a5
Ensembl Gene ENSMUSG00000035183
Gene Name solute carrier family 24, member 5
Synonyms Oca6, F630045L20Rik, NCX5, NCKX5
MMRRC Submission 045192-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7100 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 124910076-124930316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 124922591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 118 (S118R)
Ref Sequence ENSEMBL: ENSMUSP00000063887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070353]
AlphaFold Q8C261
Predicted Effect probably damaging
Transcript: ENSMUST00000070353
AA Change: S118R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: S118R

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
Meta Mutation Damage Score 0.5517 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (54/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 A G 2: 154,394,315 (GRCm39) E89G probably damaging Het
Adgrv1 A T 13: 81,419,016 (GRCm39) V5993E probably damaging Het
Amdhd1 T C 10: 93,372,936 (GRCm39) probably null Het
Amph T C 13: 19,334,011 (GRCm39) *691Q probably null Het
Ankrd55 A G 13: 112,492,644 (GRCm39) K272E probably benign Het
Arhgef10l C T 4: 140,244,126 (GRCm39) V838I possibly damaging Het
Arl2 C A 19: 6,184,774 (GRCm39) V160F probably benign Het
Catsperb T C 12: 101,412,297 (GRCm39) V128A possibly damaging Het
Cdk11b T A 4: 155,710,050 (GRCm39) L17H probably damaging Het
Cpsf1 A T 15: 76,480,314 (GRCm39) N1391K possibly damaging Het
Cpxm2 C T 7: 131,656,544 (GRCm39) A573T probably benign Het
Cspg4b T A 13: 113,455,501 (GRCm39) F516I Het
Daxx T C 17: 34,130,416 (GRCm39) S144P probably damaging Het
Dpp3 T C 19: 4,968,069 (GRCm39) D303G probably damaging Het
Fam181a T A 12: 103,282,132 (GRCm39) N12K probably damaging Het
Flg2 A T 3: 93,111,018 (GRCm39) R1015S unknown Het
Fstl5 A G 3: 76,443,600 (GRCm39) H315R probably benign Het
Fut4 A G 9: 14,662,689 (GRCm39) S202P probably damaging Het
Gm5114 T C 7: 39,057,708 (GRCm39) D637G possibly damaging Het
Gstcd G T 3: 132,790,704 (GRCm39) T21K probably benign Het
Heca C T 10: 17,791,121 (GRCm39) V312M probably benign Het
Herpud1 A G 8: 95,117,475 (GRCm39) R144G probably damaging Het
Hycc2 T A 1: 58,573,653 (GRCm39) T384S possibly damaging Het
Ino80 A G 2: 119,204,994 (GRCm39) S1511P possibly damaging Het
Irf2bp2 T C 8: 127,318,472 (GRCm39) T365A probably benign Het
Klk1 G A 7: 43,878,848 (GRCm39) G214E probably damaging Het
Lama3 A T 18: 12,715,701 (GRCm39) N1719I possibly damaging Het
Lmna A G 3: 88,392,297 (GRCm39) I365T probably damaging Het
Lrp8 C A 4: 107,659,647 (GRCm39) A13E possibly damaging Het
Ly75 A G 2: 60,136,778 (GRCm39) L1483P probably benign Het
Maco1 T C 4: 134,533,971 (GRCm39) D550G probably damaging Het
Mid1 A G X: 168,768,073 (GRCm39) D407G probably benign Het
Mpl G T 4: 118,314,607 (GRCm39) A21E Het
Mus81 C T 19: 5,534,239 (GRCm39) G360S probably damaging Het
Nmt2 T A 2: 3,313,950 (GRCm39) S250T probably benign Het
Nr1d1 C A 11: 98,662,160 (GRCm39) R158L probably damaging Het
Pcgf6 G A 19: 47,039,153 (GRCm39) P36S unknown Het
Pcnx2 G A 8: 126,485,853 (GRCm39) A1915V probably benign Het
Peak1 A G 9: 56,166,677 (GRCm39) V417A probably damaging Het
Phf20l1 A G 15: 66,476,689 (GRCm39) N262S probably benign Het
Plaat5 T A 19: 7,616,923 (GRCm39) F313I unknown Het
Ppp2r5d A G 17: 46,996,608 (GRCm39) V355A probably benign Het
Rasa3 T C 8: 13,636,897 (GRCm39) T395A probably benign Het
Rims1 T A 1: 22,416,697 (GRCm39) I432F probably benign Het
Rnf123 C T 9: 107,933,838 (GRCm39) C1080Y probably damaging Het
Serpina3g T C 12: 104,204,570 (GRCm39) probably benign Het
Shank2 T A 7: 143,964,901 (GRCm39) D836E possibly damaging Het
Smg1 G T 7: 117,783,743 (GRCm39) H1048N unknown Het
Specc1l T G 10: 75,081,329 (GRCm39) S242A probably benign Het
Tagap1 A T 17: 7,224,111 (GRCm39) L195Q possibly damaging Het
Trpc3 C A 3: 36,704,216 (GRCm39) E580D probably benign Het
Ttn A T 2: 76,541,166 (GRCm39) V33940E probably benign Het
Upp2 G T 2: 58,681,817 (GRCm39) R318L probably benign Het
Vezt T A 10: 93,832,795 (GRCm39) E205D probably benign Het
Vmn1r177 A G 7: 23,565,535 (GRCm39) F114L probably benign Het
Vmn2r53 C A 7: 12,315,513 (GRCm39) E769* probably null Het
Vnn3 T C 10: 23,741,840 (GRCm39) Y382H probably 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
R6675:Slc24a5 UTSW 2 124,922,615 (GRCm39) missense possibly damaging 0.82
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
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'- GGAAACCAAGATACATACAGGATTC -3'
(R):5'- AGATGCCGAGGAGATTATAAATTGC -3'

Sequencing Primer
(F):5'- GGATTCCTCTATTTCTAACCCAAATG -3'
(R):5'- CAGATCCTAGTATGGTGCTGATACC -3'
Posted On 2019-05-15