Incidental Mutation 'R8059:Slc8a3'
ID 619613
Institutional Source Beutler Lab
Gene Symbol Slc8a3
Ensembl Gene ENSMUSG00000079055
Gene Name solute carrier family 8 (sodium/calcium exchanger), member 3
Synonyms Ncx3
MMRRC Submission 067894-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8059 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81249032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 799 (G799S)
Ref Sequence ENSEMBL: ENSMUSP00000138735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208] [ENSMUST00000182366]
AlphaFold S4R2P9
Predicted Effect
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: G798S

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:Na_Ca_ex 79 250 1.3e-36 PFAM
Pfam:Na_Ca_ex_C 253 379 4.6e-57 PFAM
Calx_beta 385 485 3.25e-42 SMART
Calx_beta 519 619 1.04e-40 SMART
low complexity region 712 723 N/A INTRINSIC
Pfam:Na_Ca_ex 754 919 2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000085238
AA Change: G792S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: G792S

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:Na_Ca_ex 79 250 1.3e-36 PFAM
Pfam:Na_Ca_ex_C 253 379 4.6e-57 PFAM
Calx_beta 385 485 3.25e-42 SMART
Calx_beta 519 619 1.54e-43 SMART
low complexity region 705 716 N/A INTRINSIC
Pfam:Na_Ca_ex 747 912 1.9e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182208
AA Change: G799S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: G799S

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:Na_Ca_ex 89 248 8.1e-38 PFAM
Calx_beta 385 485 3.25e-42 SMART
Calx_beta 519 619 1.04e-40 SMART
low complexity region 712 723 N/A INTRINSIC
Pfam:Na_Ca_ex 764 917 9.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182366
SMART Domains Protein: ENSMUSP00000138803
Gene: ENSMUSG00000079055

DomainStartEndE-ValueType
PDB:2LT9|A 1 52 2e-28 PDB
low complexity region 82 93 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,279 (GRCm39) M3372K probably benign Het
Abcg3 A T 5: 105,100,948 (GRCm39) probably null Het
Adam19 G A 11: 46,027,293 (GRCm39) probably benign Het
Adgrg6 G T 10: 14,344,794 (GRCm39) T53K probably damaging Het
Ccdc141 A C 2: 76,875,095 (GRCm39) L705R probably damaging Het
Cep78 A T 19: 15,958,876 (GRCm39) V156E probably benign Het
Cers2 A G 3: 95,229,982 (GRCm39) D342G probably damaging Het
Chl1 T A 6: 103,651,948 (GRCm39) I272N probably damaging Het
Defb30 A G 14: 63,273,383 (GRCm39) *77Q probably null Het
Dnai3 C G 3: 145,752,428 (GRCm39) R749S possibly damaging Het
Dnm3 A G 1: 161,911,708 (GRCm39) V63A probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Entpd2 G T 2: 25,288,096 (GRCm39) V107L probably damaging Het
Hectd1 T A 12: 51,837,161 (GRCm39) H799L possibly damaging Het
Hira T C 16: 18,730,901 (GRCm39) V200A probably damaging Het
Hspd1 T C 1: 55,120,883 (GRCm39) K269E possibly damaging Het
Kcnj4 T C 15: 79,369,003 (GRCm39) S326G probably benign Het
Kctd19 T G 8: 106,122,983 (GRCm39) I144L probably benign Het
Lama4 T C 10: 38,842,057 (GRCm39) I36T probably benign Het
Lrrn3 T C 12: 41,504,216 (GRCm39) T34A probably benign Het
Maco1 A T 4: 134,555,359 (GRCm39) C371* probably null Het
Maml3 A G 3: 51,764,110 (GRCm39) S285P probably damaging Het
Man2b2 A G 5: 36,973,504 (GRCm39) Y492H probably damaging Het
Mapk10 G T 5: 103,114,478 (GRCm39) N303K probably damaging Het
Matn2 C T 15: 34,345,481 (GRCm39) R163C probably damaging Het
Mtmr7 C T 8: 41,034,564 (GRCm39) A253T probably damaging Het
Naca C T 10: 127,876,372 (GRCm39) P468L unknown Het
Nckap1l T C 15: 103,401,714 (GRCm39) S1084P possibly damaging Het
Nek11 T C 9: 105,040,173 (GRCm39) *629W probably null Het
Nfkb1 C T 3: 135,299,613 (GRCm39) A731T possibly damaging Het
Nop2 T C 6: 125,117,775 (GRCm39) V442A probably damaging Het
Oaz2 C T 9: 65,596,425 (GRCm39) P163L probably damaging Het
Or5p57 T C 7: 107,665,223 (GRCm39) T231A probably benign Het
Or6d14 C T 6: 116,533,434 (GRCm39) T16I possibly damaging Het
Or8k23 A G 2: 86,186,306 (GRCm39) V140A probably benign Het
Pabpc2 A T 18: 39,907,875 (GRCm39) N380I probably benign Het
Pax3 T C 1: 78,080,003 (GRCm39) D461G probably benign Het
Pds5b G T 5: 150,731,300 (GRCm39) R1443L unknown Het
Per1 G A 11: 68,997,309 (GRCm39) R828H probably damaging Het
Phlpp2 T A 8: 110,622,189 (GRCm39) S144T probably benign Het
Plod1 A T 4: 148,012,941 (GRCm39) I207N probably damaging Het
Psmc6 A T 14: 45,578,260 (GRCm39) I208F probably damaging Het
Rev3l T C 10: 39,719,491 (GRCm39) S2494P probably damaging Het
Rgs3 T C 4: 62,521,214 (GRCm39) probably benign Het
Rtraf T C 14: 19,872,631 (GRCm39) probably benign Het
Slc17a6 T A 7: 51,294,792 (GRCm39) N166K probably damaging Het
Slc18a2 A T 19: 59,272,572 (GRCm39) T348S probably benign Het
Slc39a8 G T 3: 135,532,347 (GRCm39) A39S probably benign Het
Sp1 T G 15: 102,316,337 (GRCm39) S46R possibly damaging Het
Spta1 A G 1: 174,045,936 (GRCm39) probably benign Het
Stab1 G A 14: 30,882,198 (GRCm39) P499L probably benign Het
Trav21-dv12 C A 14: 54,114,178 (GRCm39) D99E probably damaging Het
Trpv6 T G 6: 41,601,520 (GRCm39) I467L probably benign Het
Ttc41 A G 10: 86,548,842 (GRCm39) Y12C probably benign Het
Vmn1r233 T C 17: 21,214,698 (GRCm39) N84S probably benign Het
Vrtn T C 12: 84,696,690 (GRCm39) F480S probably benign Het
Zc3h13 C G 14: 75,565,250 (GRCm39) R788G unknown Het
Other mutations in Slc8a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Slc8a3 APN 12 81,361,343 (GRCm39) missense probably benign
IGL01315:Slc8a3 APN 12 81,361,169 (GRCm39) missense probably damaging 0.97
IGL01365:Slc8a3 APN 12 81,362,150 (GRCm39) missense probably damaging 0.99
IGL01610:Slc8a3 APN 12 81,362,576 (GRCm39) missense probably damaging 1.00
IGL02227:Slc8a3 APN 12 81,362,457 (GRCm39) missense probably damaging 1.00
IGL02299:Slc8a3 APN 12 81,361,998 (GRCm39) missense probably damaging 0.98
IGL02548:Slc8a3 APN 12 81,250,930 (GRCm39) splice site probably benign
IGL02646:Slc8a3 APN 12 81,361,868 (GRCm39) missense probably damaging 1.00
IGL03135:Slc8a3 APN 12 81,249,023 (GRCm39) missense probably damaging 1.00
R0050:Slc8a3 UTSW 12 81,362,039 (GRCm39) missense probably damaging 1.00
R0627:Slc8a3 UTSW 12 81,361,616 (GRCm39) missense probably damaging 1.00
R0648:Slc8a3 UTSW 12 81,361,220 (GRCm39) missense probably damaging 1.00
R1342:Slc8a3 UTSW 12 81,362,790 (GRCm39) missense probably damaging 0.99
R1437:Slc8a3 UTSW 12 81,362,760 (GRCm39) missense probably damaging 0.99
R1470:Slc8a3 UTSW 12 81,246,484 (GRCm39) missense probably benign
R1470:Slc8a3 UTSW 12 81,246,484 (GRCm39) missense probably benign
R1557:Slc8a3 UTSW 12 81,362,331 (GRCm39) missense probably damaging 1.00
R1563:Slc8a3 UTSW 12 81,251,781 (GRCm39) missense possibly damaging 0.47
R1918:Slc8a3 UTSW 12 81,361,618 (GRCm39) missense probably damaging 0.99
R1930:Slc8a3 UTSW 12 81,361,220 (GRCm39) missense probably damaging 1.00
R1931:Slc8a3 UTSW 12 81,361,220 (GRCm39) missense probably damaging 1.00
R2232:Slc8a3 UTSW 12 81,361,994 (GRCm39) missense probably damaging 0.99
R2680:Slc8a3 UTSW 12 81,249,113 (GRCm39) missense probably damaging 0.99
R2941:Slc8a3 UTSW 12 81,361,953 (GRCm39) missense probably damaging 1.00
R3157:Slc8a3 UTSW 12 81,361,766 (GRCm39) missense probably damaging 1.00
R3159:Slc8a3 UTSW 12 81,361,766 (GRCm39) missense probably damaging 1.00
R3751:Slc8a3 UTSW 12 81,250,912 (GRCm39) missense probably damaging 1.00
R3859:Slc8a3 UTSW 12 81,361,646 (GRCm39) missense probably damaging 0.99
R4240:Slc8a3 UTSW 12 81,361,950 (GRCm39) missense probably damaging 0.99
R4527:Slc8a3 UTSW 12 81,362,627 (GRCm39) missense probably damaging 1.00
R4547:Slc8a3 UTSW 12 81,361,625 (GRCm39) missense possibly damaging 0.76
R4951:Slc8a3 UTSW 12 81,362,760 (GRCm39) missense probably damaging 0.99
R4951:Slc8a3 UTSW 12 81,361,473 (GRCm39) missense probably benign 0.31
R5022:Slc8a3 UTSW 12 81,246,332 (GRCm39) missense probably damaging 0.96
R5049:Slc8a3 UTSW 12 81,260,906 (GRCm39) missense probably damaging 1.00
R5057:Slc8a3 UTSW 12 81,246,332 (GRCm39) missense probably damaging 0.96
R5104:Slc8a3 UTSW 12 81,260,908 (GRCm39) missense probably null 0.34
R5122:Slc8a3 UTSW 12 81,361,032 (GRCm39) critical splice donor site probably null
R5183:Slc8a3 UTSW 12 81,361,265 (GRCm39) missense possibly damaging 0.79
R5629:Slc8a3 UTSW 12 81,246,405 (GRCm39) missense probably damaging 1.00
R6062:Slc8a3 UTSW 12 81,361,124 (GRCm39) missense probably damaging 1.00
R6218:Slc8a3 UTSW 12 81,246,341 (GRCm39) missense probably benign
R6279:Slc8a3 UTSW 12 81,361,752 (GRCm39) missense probably damaging 0.99
R6300:Slc8a3 UTSW 12 81,361,752 (GRCm39) missense probably damaging 0.99
R6416:Slc8a3 UTSW 12 81,362,401 (GRCm39) missense probably damaging 1.00
R6790:Slc8a3 UTSW 12 81,361,206 (GRCm39) missense probably benign 0.00
R6999:Slc8a3 UTSW 12 81,361,529 (GRCm39) missense probably benign 0.06
R7195:Slc8a3 UTSW 12 81,361,047 (GRCm39) missense possibly damaging 0.95
R7268:Slc8a3 UTSW 12 81,361,827 (GRCm39) missense probably damaging 0.98
R7288:Slc8a3 UTSW 12 81,263,598 (GRCm39) missense possibly damaging 0.70
R7383:Slc8a3 UTSW 12 81,362,579 (GRCm39) missense probably damaging 1.00
R7392:Slc8a3 UTSW 12 81,361,577 (GRCm39) missense probably damaging 0.99
R7394:Slc8a3 UTSW 12 81,260,832 (GRCm39) splice site probably null
R7549:Slc8a3 UTSW 12 81,361,544 (GRCm39) missense probably benign 0.06
R7657:Slc8a3 UTSW 12 81,361,158 (GRCm39) missense probably damaging 1.00
R7699:Slc8a3 UTSW 12 81,361,247 (GRCm39) missense probably damaging 1.00
R7759:Slc8a3 UTSW 12 81,361,325 (GRCm39) missense probably benign
R7960:Slc8a3 UTSW 12 81,263,506 (GRCm39) missense probably benign 0.00
R7985:Slc8a3 UTSW 12 81,361,767 (GRCm39) missense probably damaging 1.00
R8192:Slc8a3 UTSW 12 81,246,455 (GRCm39) missense probably damaging 1.00
R8397:Slc8a3 UTSW 12 81,246,542 (GRCm39) missense probably benign 0.45
R8413:Slc8a3 UTSW 12 81,361,452 (GRCm39) missense probably damaging 0.97
R8681:Slc8a3 UTSW 12 81,361,914 (GRCm39) missense probably benign
R9060:Slc8a3 UTSW 12 81,260,852 (GRCm39) missense probably benign 0.45
R9061:Slc8a3 UTSW 12 81,263,540 (GRCm39) missense probably damaging 0.99
R9267:Slc8a3 UTSW 12 81,361,208 (GRCm39) missense possibly damaging 0.77
R9416:Slc8a3 UTSW 12 81,361,838 (GRCm39) missense probably benign 0.06
R9519:Slc8a3 UTSW 12 81,362,326 (GRCm39) missense probably benign 0.30
R9531:Slc8a3 UTSW 12 81,361,997 (GRCm39) missense probably damaging 1.00
X0026:Slc8a3 UTSW 12 81,362,061 (GRCm39) missense probably benign 0.22
X0028:Slc8a3 UTSW 12 81,361,717 (GRCm39) missense probably damaging 1.00
Z1177:Slc8a3 UTSW 12 81,362,650 (GRCm39) missense probably benign 0.13
Z1177:Slc8a3 UTSW 12 81,361,474 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- ACTTGGTAGGCCTCAGTTTC -3'
(R):5'- ACGTCATGCACTTCCTGACG -3'

Sequencing Primer
(F):5'- CCCCTGTCTAGTAAGGCTTGG -3'
(R):5'- CCTGACGGTCTTCTGGAAG -3'
Posted On 2020-01-23