Incidental Mutation 'R4073:Slc24a3'
ID 316376
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 041621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R4073 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 145009695-145484086 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 145455636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081121] [ENSMUST00000110007]
AlphaFold Q99PD7
Predicted Effect probably benign
Transcript: ENSMUST00000081121
SMART Domains Protein: ENSMUSP00000079897
Gene: ENSMUSG00000063873

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
SMART Domains Protein: ENSMUSP00000105634
Gene: ENSMUSG00000063873

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (67/70)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik C T 17: 54,031,494 (GRCm39) noncoding transcript Het
Alox12 T C 11: 70,138,136 (GRCm39) N400D probably damaging Het
Axl A G 7: 25,463,336 (GRCm39) probably benign Het
Cbs C T 17: 31,851,979 (GRCm39) C8Y possibly damaging Het
Ccdc103 C T 11: 102,774,925 (GRCm39) R175W probably damaging Het
Clasp1 T C 1: 118,431,578 (GRCm39) F171L probably damaging Het
Cnot10 A G 9: 114,452,015 (GRCm39) F254L possibly damaging Het
Cytl1 A G 5: 37,892,940 (GRCm39) I17V unknown Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dock7 A T 4: 98,896,296 (GRCm39) S768R probably benign Het
Egf C T 3: 129,529,618 (GRCm39) R264Q probably benign Het
Ehhadh T C 16: 21,585,257 (GRCm39) D208G probably benign Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Erbin T C 13: 103,996,619 (GRCm39) E211G probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Gpd2 A G 2: 57,180,025 (GRCm39) R91G probably damaging Het
Herc1 A G 9: 66,325,774 (GRCm39) D1416G probably benign Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Il23r A G 6: 67,463,106 (GRCm39) I129T probably damaging Het
Jph4 T C 14: 55,352,497 (GRCm39) S79G probably benign Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Lrig3 C T 10: 125,849,277 (GRCm39) T999I probably benign Het
Lrrc71 G A 3: 87,652,569 (GRCm39) T185I probably benign Het
Mroh1 A G 15: 76,292,185 (GRCm39) D219G probably benign Het
Mtor T A 4: 148,633,832 (GRCm39) S2342T probably damaging Het
Nf2 T C 11: 4,798,958 (GRCm39) S10G probably benign Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Nrm T A 17: 36,172,424 (GRCm39) probably benign Het
Nsd1 T A 13: 55,395,541 (GRCm39) H1047Q probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or2t47 T C 11: 58,442,888 (GRCm39) Y59C probably damaging Het
Or4k5 A G 14: 50,385,500 (GRCm39) V277A possibly damaging Het
Or4x13 T C 2: 90,231,337 (GRCm39) F111L probably benign Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Or6aa1 T A 7: 86,044,155 (GRCm39) I184F probably damaging Het
Or8b38 T C 9: 37,973,165 (GRCm39) L183P probably damaging Het
Pbx3 T C 2: 34,114,424 (GRCm39) Y112C probably damaging Het
Pde11a C T 2: 76,168,242 (GRCm39) R237H probably damaging Het
Phactr1 ACTT A 13: 43,213,245 (GRCm39) probably benign Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Ptgs1 C T 2: 36,127,788 (GRCm39) R116C probably damaging Het
Rab39b T C X: 74,618,658 (GRCm39) probably benign Het
Rpp25 T C 9: 57,411,592 (GRCm39) S25P probably benign Het
Rrbp1 T G 2: 143,805,030 (GRCm39) Q1045P probably benign Het
Sbk3 G T 7: 4,973,501 (GRCm39) A41D probably damaging Het
Slc28a3 T C 13: 58,707,104 (GRCm39) I565V probably benign Het
Slc35a3 T C 3: 116,468,887 (GRCm39) T275A probably benign Het
Spink12 A G 18: 44,237,731 (GRCm39) N3S possibly damaging Het
Srp72 C A 5: 77,146,098 (GRCm39) T633K probably benign Het
Tab3 G T X: 84,658,063 (GRCm39) V197F probably damaging Het
Taf2 A G 15: 54,915,633 (GRCm39) L431P probably damaging Het
Tas2r131 A T 6: 132,934,802 (GRCm39) Y2* probably null Het
Tmprss11e T C 5: 86,863,502 (GRCm39) T188A possibly damaging Het
Trpv1 T C 11: 73,141,606 (GRCm39) V175A probably damaging Het
Usp21 T C 1: 171,109,746 (GRCm39) probably benign Het
Vmn1r25 A G 6: 57,955,572 (GRCm39) V239A possibly damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zfhx4 G T 3: 5,464,384 (GRCm39) C1514F probably damaging 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
R4386:Slc24a3 UTSW 2 145,448,746 (GRCm39) missense probably benign 0.00
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'- GAAATGGGCTTTCACCTGGC -3'
(R):5'- CTGCTCATTACCAAAGGGATTAC -3'

Sequencing Primer
(F):5'- ACCTGGCCACTGAGCTTTG -3'
(R):5'- TTAAATCAAGTCGCCCTCAGG -3'
Posted On 2015-05-15