Incidental Mutation 'R6114:Slc24a5'
ID 484994
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 044263-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6114 (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 G at 124925012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 218 (T218A)
Ref Sequence ENSEMBL: ENSMUSP00000063887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067780] [ENSMUST00000070353] [ENSMUST00000110501] [ENSMUST00000142718] [ENSMUST00000147105] [ENSMUST00000152367]
AlphaFold Q8C261
Predicted Effect probably benign
Transcript: ENSMUST00000067780
SMART Domains Protein: ENSMUSP00000066312
Gene: ENSMUSG00000027201

DomainStartEndE-ValueType
RRM 92 165 1.84e-22 SMART
low complexity region 198 211 N/A INTRINSIC
RRM 225 297 5.12e-21 SMART
low complexity region 318 335 N/A INTRINSIC
low complexity region 430 450 N/A INTRINSIC
RRM 498 569 6.15e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000070353
AA Change: T218A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: T218A

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 probably benign
Transcript: ENSMUST00000110501
SMART Domains Protein: ENSMUSP00000106127
Gene: ENSMUSG00000027201

DomainStartEndE-ValueType
RRM 92 165 1.84e-22 SMART
low complexity region 198 211 N/A INTRINSIC
RRM 225 297 5.12e-21 SMART
low complexity region 318 335 N/A INTRINSIC
low complexity region 430 450 N/A INTRINSIC
RRM 498 569 6.15e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139615
Predicted Effect probably benign
Transcript: ENSMUST00000142718
SMART Domains Protein: ENSMUSP00000115519
Gene: ENSMUSG00000027201

DomainStartEndE-ValueType
RRM 92 165 1.84e-22 SMART
low complexity region 198 211 N/A INTRINSIC
RRM 225 297 5.12e-21 SMART
low complexity region 318 335 N/A INTRINSIC
low complexity region 351 376 N/A INTRINSIC
low complexity region 427 443 N/A INTRINSIC
RRM 491 562 6.15e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149963
Predicted Effect probably benign
Transcript: ENSMUST00000147105
SMART Domains Protein: ENSMUSP00000114817
Gene: ENSMUSG00000027201

DomainStartEndE-ValueType
RRM 92 165 1.84e-22 SMART
low complexity region 198 211 N/A INTRINSIC
RRM 225 297 5.12e-21 SMART
low complexity region 318 335 N/A INTRINSIC
low complexity region 410 426 N/A INTRINSIC
RRM 474 545 6.15e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152367
SMART Domains Protein: ENSMUSP00000123088
Gene: ENSMUSG00000027201

DomainStartEndE-ValueType
RRM 92 165 1.84e-22 SMART
low complexity region 198 211 N/A INTRINSIC
RRM 225 297 5.12e-21 SMART
low complexity region 318 335 N/A INTRINSIC
low complexity region 351 376 N/A INTRINSIC
low complexity region 447 467 N/A INTRINSIC
RRM 515 586 6.15e-24 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N 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
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
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'- TGTAACCATACTATAACCAAAACTGGG -3'
(R):5'- CCATGCAAGCTTAGAGAAAGTTG -3'

Sequencing Primer
(F):5'- TGGGTAAATAAAAGCATTTAGGAGTG -3'
(R):5'- TGGGAGTAACCGGAATCTTCC -3'
Posted On 2017-08-16