Incidental Mutation 'R4386:Slc24a3'
ID 326210
Institutional Source Beutler Lab
Gene Symbol Slc24a3
Ensembl Gene ENSMUSG00000063873
Gene Name solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
Synonyms NCKX3
MMRRC Submission 041680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R4386 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 145009695-145484086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145448746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 380 (E380G)
Ref Sequence ENSEMBL: ENSMUSP00000079897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081121] [ENSMUST00000110007]
AlphaFold Q99PD7
Predicted Effect probably benign
Transcript: ENSMUST00000081121
AA Change: E380G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873
AA Change: E380G

DomainStartEndE-ValueType
Pfam:Na_Ca_ex 72 204 8.6e-33 PFAM
coiled coil region 353 382 N/A INTRINSIC
Pfam:Na_Ca_ex 437 577 2.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110007
AA Change: E430G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873
AA Change: E430G

DomainStartEndE-ValueType
low complexity region 11 19 N/A INTRINSIC
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Na_Ca_ex 112 255 2.6e-32 PFAM
coiled coil region 403 432 N/A INTRINSIC
Pfam:Na_Ca_ex 477 629 6.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137908
Meta Mutation Damage Score 0.0685 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,379,982 (GRCm39) probably null Het
Acsm3 G T 7: 119,373,094 (GRCm39) W199L probably damaging Het
Arap1 T A 7: 101,034,778 (GRCm39) D236E probably benign Het
Arhgap1 T C 2: 91,498,582 (GRCm39) Y160H probably damaging Het
Arid1b A G 17: 5,045,247 (GRCm39) probably benign Het
Cdc25a A G 9: 109,718,801 (GRCm39) E334G probably damaging Het
Ciz1 C T 2: 32,260,111 (GRCm39) T219M possibly damaging Het
Cluap1 A C 16: 3,751,586 (GRCm39) D315A possibly damaging Het
Cps1 T C 1: 67,210,154 (GRCm39) probably null Het
Cul2 T C 18: 3,434,856 (GRCm39) S668P probably damaging Het
Fah T A 7: 84,248,344 (GRCm39) T125S probably damaging Het
Fam221a G A 6: 49,355,366 (GRCm39) C156Y probably damaging Het
Gm6158 G T 14: 24,120,362 (GRCm39) noncoding transcript Het
Hbq1b T A 11: 32,237,295 (GRCm39) V63E probably damaging Het
Ighv6-5 G A 12: 114,380,337 (GRCm39) T79I possibly damaging Het
Kif12 G A 4: 63,089,455 (GRCm39) T99M probably damaging Het
Kif1a T A 1: 92,996,272 (GRCm39) K298M probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama1 A G 17: 68,080,707 (GRCm39) Q1245R probably benign Het
Marchf4 G A 1: 72,467,973 (GRCm39) P353L probably benign Het
Nadk A T 4: 155,667,032 (GRCm39) probably benign Het
Ncoa2 T C 1: 13,247,389 (GRCm39) T345A probably damaging Het
Niban3 A G 8: 72,060,155 (GRCm39) probably benign Het
Nsun6 T A 2: 15,001,333 (GRCm39) M408L probably benign Het
Nuak1 T A 10: 84,229,908 (GRCm39) E155V probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Or13c7c C T 4: 43,836,124 (GRCm39) R122H probably benign Het
Or2t26 T A 11: 49,039,842 (GRCm39) Y253N probably damaging Het
Or5ae2 T C 7: 84,505,756 (GRCm39) Y60H probably damaging Het
Or5p81 T A 7: 108,267,460 (GRCm39) V279E probably damaging Het
Pabpc2 T C 18: 39,908,238 (GRCm39) V501A probably benign Het
Pik3c2a A G 7: 115,953,334 (GRCm39) V1187A probably damaging Het
Pkhd1 A G 1: 20,484,516 (GRCm39) V2013A probably benign Het
Psmd1 T A 1: 86,055,914 (GRCm39) S759T possibly damaging Het
Scgb1b2 T A 7: 30,990,089 (GRCm39) K86N possibly damaging Het
Sdk1 T C 5: 142,080,381 (GRCm39) I1291T probably damaging Het
Skint5 T C 4: 113,341,090 (GRCm39) Y1396C probably benign Het
Spock1 A G 13: 57,588,263 (GRCm39) S270P probably damaging Het
Tmem128 T C 5: 38,419,418 (GRCm39) S57P probably damaging Het
Tmem186 G A 16: 8,453,887 (GRCm39) R125W probably benign Het
Tnfaip3 A G 10: 18,882,758 (GRCm39) S220P probably damaging Het
Usp45 T C 4: 21,830,505 (GRCm39) probably null Het
Usp5 C T 6: 124,795,437 (GRCm39) probably null Het
Vmn1r35 A T 6: 66,656,573 (GRCm39) C32* probably null Het
Vmn2r112 T A 17: 22,820,303 (GRCm39) F59I probably benign Het
Wfdc9 A T 2: 164,492,458 (GRCm39) S56R probably benign Het
Zfp369 A G 13: 65,444,806 (GRCm39) I650V probably benign Het
Other mutations in Slc24a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Slc24a3 APN 2 145,458,634 (GRCm39) critical splice donor site probably null
IGL01327:Slc24a3 APN 2 145,444,478 (GRCm39) missense probably benign
IGL01413:Slc24a3 APN 2 145,482,169 (GRCm39) missense probably damaging 1.00
IGL01418:Slc24a3 APN 2 145,482,169 (GRCm39) missense probably damaging 1.00
IGL01468:Slc24a3 APN 2 145,455,500 (GRCm39) missense probably benign 0.16
IGL01629:Slc24a3 APN 2 145,482,130 (GRCm39) splice site probably benign
IGL01973:Slc24a3 APN 2 145,086,947 (GRCm39) missense probably benign 0.01
IGL02021:Slc24a3 APN 2 145,360,836 (GRCm39) missense probably damaging 1.00
IGL02378:Slc24a3 APN 2 145,360,322 (GRCm39) missense possibly damaging 0.78
R0242:Slc24a3 UTSW 2 145,448,584 (GRCm39) missense probably benign 0.02
R0242:Slc24a3 UTSW 2 145,448,584 (GRCm39) missense probably benign 0.02
R0685:Slc24a3 UTSW 2 145,448,715 (GRCm39) missense probably benign 0.00
R0827:Slc24a3 UTSW 2 145,360,412 (GRCm39) splice site probably benign
R1669:Slc24a3 UTSW 2 145,455,512 (GRCm39) missense probably damaging 1.00
R2698:Slc24a3 UTSW 2 145,455,487 (GRCm39) missense probably benign 0.01
R3796:Slc24a3 UTSW 2 145,458,601 (GRCm39) missense probably damaging 1.00
R4073:Slc24a3 UTSW 2 145,455,636 (GRCm39) intron probably benign
R5125:Slc24a3 UTSW 2 145,360,767 (GRCm39) missense possibly damaging 0.95
R5169:Slc24a3 UTSW 2 145,482,184 (GRCm39) missense probably benign 0.18
R5248:Slc24a3 UTSW 2 145,446,437 (GRCm39) missense probably benign 0.40
R5394:Slc24a3 UTSW 2 145,455,494 (GRCm39) missense probably benign 0.42
R5549:Slc24a3 UTSW 2 145,448,784 (GRCm39) missense probably damaging 1.00
R6476:Slc24a3 UTSW 2 145,448,750 (GRCm39) missense probably benign
R6777:Slc24a3 UTSW 2 145,482,202 (GRCm39) missense probably damaging 1.00
R6814:Slc24a3 UTSW 2 145,458,630 (GRCm39) nonsense probably null
R7163:Slc24a3 UTSW 2 145,086,911 (GRCm39) missense probably benign
R7446:Slc24a3 UTSW 2 145,422,902 (GRCm39) missense probably damaging 1.00
R7525:Slc24a3 UTSW 2 145,455,450 (GRCm39) missense probably benign 0.00
R9573:Slc24a3 UTSW 2 145,455,548 (GRCm39) missense probably damaging 0.99
R9732:Slc24a3 UTSW 2 145,458,591 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGCAGGGCCTATACCAATG -3'
(R):5'- GCCCACGGTAGACACTTCATAC -3'

Sequencing Primer
(F):5'- GCCTATACCAATGGGGAATCTG -3'
(R):5'- CACGGTAGACACTTCATACAATTGTG -3'
Posted On 2015-07-06