Incidental Mutation 'R7383:Slc8a3'
ID 572894
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 045465-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7383 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 81362579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 80 (Y80S)
Ref Sequence ENSEMBL: ENSMUSP00000138735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208]
AlphaFold S4R2P9
Predicted Effect
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: Y80S

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: Y80S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: Y80S

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: Y80S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: Y80S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 T A 11: 5,818,548 (GRCm39) I511N probably damaging Het
Ap5m1 T G 14: 49,311,653 (GRCm39) V241G possibly damaging Het
BC049715 T A 6: 136,817,453 (GRCm39) I231N probably damaging Het
Bckdhb T G 9: 83,835,766 (GRCm39) V90G possibly damaging Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Chd8 T C 14: 52,452,776 (GRCm39) I1248V probably damaging Het
Ckap2l A T 2: 129,111,172 (GRCm39) M675K possibly damaging Het
Ckap4 A T 10: 84,364,148 (GRCm39) V305E probably damaging Het
Clasrp C A 7: 19,319,198 (GRCm39) R489L unknown Het
Col24a1 A G 3: 145,004,599 (GRCm39) I26V probably benign Het
Cort C T 4: 149,209,861 (GRCm39) A64T possibly damaging Het
Dmkn T A 7: 30,464,793 (GRCm39) N255K unknown Het
Dph2 A T 4: 117,748,566 (GRCm39) L69Q probably damaging Het
Fbxo11 A G 17: 88,310,282 (GRCm39) I432T Het
Fgd3 T C 13: 49,421,785 (GRCm39) K531R possibly damaging Het
Fgd5 A G 6: 91,964,099 (GRCm39) K111E probably benign Het
Gdf6 T A 4: 9,859,537 (GRCm39) D206E probably benign Het
Gtpbp1 T A 15: 79,600,354 (GRCm39) L429Q probably damaging Het
Hk2 A G 6: 82,726,276 (GRCm39) F90S probably damaging Het
Hrnr A T 3: 93,239,098 (GRCm39) Q3112L unknown Het
Hsd17b4 A C 18: 50,297,917 (GRCm39) K402T probably benign Het
Htr1f T C 16: 64,747,206 (GRCm39) T29A probably benign Het
Ikbkb C A 8: 23,159,066 (GRCm39) A471S probably benign Het
Inpp5f A G 7: 128,296,310 (GRCm39) D887G probably damaging Het
Ipo9 A G 1: 135,316,411 (GRCm39) L805P probably damaging Het
Jmjd1c A T 10: 67,025,537 (GRCm39) N118I probably benign Het
Kif26b T G 1: 178,358,275 (GRCm39) C129G probably damaging Het
Mga G A 2: 119,790,821 (GRCm39) A2236T probably damaging Het
Micu2 T C 14: 58,154,810 (GRCm39) Q405R possibly damaging Het
Myo1e T A 9: 70,204,577 (GRCm39) V59D probably damaging Het
Nav3 A G 10: 109,552,532 (GRCm39) I1770T probably damaging Het
Ndufa10 A T 1: 92,392,183 (GRCm39) I190N probably damaging Het
Niban3 A C 8: 72,056,470 (GRCm39) E390A possibly damaging Het
Npat T A 9: 53,474,078 (GRCm39) H623Q probably benign Het
Npc1l1 T C 11: 6,167,777 (GRCm39) T1005A probably benign Het
Or10ag58 A G 2: 87,265,721 (GRCm39) S297G possibly damaging Het
Or14c39 A T 7: 86,343,960 (GRCm39) I99F probably damaging Het
Or1e22 A G 11: 73,376,715 (GRCm39) *312Q probably null Het
Or2b4 A G 17: 38,116,972 (GRCm39) K312R probably benign Het
Or2w3 T C 11: 58,557,011 (GRCm39) S209P possibly damaging Het
Or5t7 A G 2: 86,507,263 (GRCm39) V138A possibly damaging Het
Or8s8 C G 15: 98,354,578 (GRCm39) P129R probably damaging Het
Pafah1b2 C T 9: 45,880,147 (GRCm39) G177R probably benign Het
Phc1 A G 6: 122,300,317 (GRCm39) S521P unknown Het
Plpp2 A T 10: 79,366,841 (GRCm39) L25Q probably null Het
Plxna4 A G 6: 32,129,734 (GRCm39) probably null Het
Ppl G T 16: 4,915,835 (GRCm39) P576Q probably damaging Het
Rab38 T C 7: 88,079,637 (GRCm39) Y10H possibly damaging Het
Rbfox1 G A 16: 6,887,899 (GRCm39) G13S probably benign Het
Rhot1 C G 11: 80,114,760 (GRCm39) P56R probably damaging Het
Sipa1l2 A G 8: 126,174,385 (GRCm39) W1298R probably damaging Het
Slc16a14 G A 1: 84,890,292 (GRCm39) H338Y probably damaging Het
Slco6c1 A T 1: 97,003,608 (GRCm39) Y513* probably null Het
Smarcd2 A G 11: 106,155,602 (GRCm39) C405R probably damaging Het
Szt2 G A 4: 118,222,411 (GRCm39) R3198* probably null Het
Tmeff1 T A 4: 48,636,841 (GRCm39) C180S probably damaging Het
Tmem132a A T 19: 10,844,358 (GRCm39) M80K probably benign Het
Tnfsf12 A G 11: 69,577,892 (GRCm39) V175A probably damaging Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Togaram2 A T 17: 72,007,512 (GRCm39) I354F probably damaging Het
Uchl5 T A 1: 143,659,753 (GRCm39) S42R probably benign Het
Virma C A 4: 11,514,026 (GRCm39) L627I probably damaging Het
Vmn2r12 A T 5: 109,240,684 (GRCm39) I143K probably benign Het
Vmn2r95 T G 17: 18,660,734 (GRCm39) V382G probably benign Het
Wipf3 G T 6: 54,462,263 (GRCm39) A158S probably benign Het
Ylpm1 T G 12: 85,091,242 (GRCm39) S1809A possibly damaging Het
Zdhhc5 A T 2: 84,524,748 (GRCm39) C191S probably benign Het
Zer1 G A 2: 30,001,253 (GRCm39) R84C probably damaging Het
Zfhx2 A T 14: 55,305,710 (GRCm39) V991D probably benign Het
Zscan4b C A 7: 10,637,960 (GRCm39) M61I possibly damaging Het
Zswim2 A T 2: 83,745,672 (GRCm39) S589T possibly damaging 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
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
R8059:Slc8a3 UTSW 12 81,249,032 (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'- TCACCAGCAATGAACCCGTG -3'
(R):5'- CTTCCTGAATTGTCTTCGAGCAG -3'

Sequencing Primer
(F):5'- ATCTCTGGAGCAGAAGAGCCC -3'
(R):5'- GAGGCTGGTGACTCGGG -3'
Posted On 2019-09-13