Incidental Mutation 'R1557:Slc8a3'
ID 170366
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 039596-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1557 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81362331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 163 (G163S)
Ref Sequence ENSEMBL: ENSMUSP00000138735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208]
AlphaFold S4R2P9
Predicted Effect probably damaging
Transcript: ENSMUST00000064594
AA Change: G163S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: G163S

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: G163S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: G163S

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: G163S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: G163S

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 noncoding transcript
Transcript: ENSMUST00000183102
Meta Mutation Damage Score 0.6556 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (75/78)
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
1700019A02Rik A C 1: 53,221,025 (GRCm39) D68E possibly damaging Het
Abca3 T C 17: 24,618,954 (GRCm39) V870A possibly damaging Het
Aldh3a2 A T 11: 61,139,885 (GRCm39) F416I probably damaging Het
Armc6 A T 8: 70,678,098 (GRCm39) L77Q possibly damaging Het
Asb17 A G 3: 153,556,570 (GRCm39) I226V probably benign Het
Aspm A G 1: 139,396,406 (GRCm39) I862V probably benign Het
Atr T A 9: 95,753,502 (GRCm39) D701E probably damaging Het
Baz1b C T 5: 135,247,097 (GRCm39) L849F possibly damaging Het
Cbr1 T C 16: 93,405,677 (GRCm39) V97A probably benign Het
Cep295 G A 9: 15,243,306 (GRCm39) Q1669* probably null Het
Cfap54 T C 10: 92,820,089 (GRCm39) T1242A possibly damaging Het
Chrm3 T A 13: 9,928,350 (GRCm39) T229S possibly damaging Het
Cimip4 C A 15: 78,270,474 (GRCm39) R98M probably damaging Het
Cnga3 A G 1: 37,300,066 (GRCm39) Y300C probably damaging Het
Col14a1 A C 15: 55,251,975 (GRCm39) I544L unknown Het
Crocc T C 4: 140,752,776 (GRCm39) E1208G probably damaging Het
Cyp2j8 A T 4: 96,358,713 (GRCm39) probably benign Het
Dcbld2 T C 16: 58,285,713 (GRCm39) I624T possibly damaging Het
Ddah1 A C 3: 145,597,227 (GRCm39) I258L probably benign Het
Dnah6 G A 6: 73,026,114 (GRCm39) Q3460* probably null Het
Dync2h1 T A 9: 7,140,911 (GRCm39) D1372V probably damaging Het
Egln1 G A 8: 125,674,980 (GRCm39) R272* probably null Het
Elf1 A G 14: 79,804,620 (GRCm39) D95G possibly damaging Het
Fkbp5 A G 17: 28,621,729 (GRCm39) F374L probably damaging Het
Fli1 T C 9: 32,372,540 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,846,436 (GRCm39) T158A probably damaging Het
Gp2 A C 7: 119,049,302 (GRCm39) Y412D probably damaging Het
Hmcn1 A G 1: 150,610,283 (GRCm39) V1462A possibly damaging Het
Ide T C 19: 37,258,160 (GRCm39) probably null Het
Kalrn T C 16: 34,134,648 (GRCm39) K372R possibly damaging Het
Kcnj16 A G 11: 110,916,067 (GRCm39) D243G possibly damaging Het
Kif7 A G 7: 79,363,905 (GRCm39) M1T probably null Het
Klri2 A T 6: 129,709,174 (GRCm39) L226Q probably damaging Het
Kremen1 T C 11: 5,165,373 (GRCm39) probably null Het
Lama3 T C 18: 12,646,788 (GRCm39) probably benign Het
Lmln C A 16: 32,908,581 (GRCm39) R336S probably benign Het
Lrch4 T A 5: 137,635,818 (GRCm39) D266E probably benign Het
Lrrc28 C T 7: 67,209,677 (GRCm39) R174H probably damaging Het
Mib1 T A 18: 10,798,474 (GRCm39) D778E probably damaging Het
Msra T C 14: 64,360,775 (GRCm39) I125V possibly damaging Het
Or10c1 A G 17: 37,522,244 (GRCm39) F167L probably damaging Het
Or4k37 T A 2: 111,158,964 (GRCm39) S67T probably damaging Het
Or4p19 A T 2: 88,242,555 (GRCm39) V149E possibly damaging Het
Or52e18 A G 7: 104,609,747 (GRCm39) F64S probably damaging Het
Or6c75 C A 10: 129,337,491 (GRCm39) T246N probably damaging Het
Or8d23 A G 9: 38,841,955 (GRCm39) M163V possibly damaging Het
Pes1 T A 11: 3,926,824 (GRCm39) Y369N probably damaging Het
Pgam2 T C 11: 5,751,773 (GRCm39) D221G possibly damaging Het
Prl2c5 T C 13: 13,365,265 (GRCm39) V137A possibly damaging Het
Rasal1 T A 5: 120,814,914 (GRCm39) D721E possibly damaging Het
Sass6 G T 3: 116,412,381 (GRCm39) E385D possibly damaging Het
Sema5a A G 15: 32,460,418 (GRCm39) R60G probably benign Het
Sesn1 T C 10: 41,779,762 (GRCm39) S399P probably damaging Het
Skic2 G A 17: 35,067,398 (GRCm39) L47F probably damaging Het
Slc10a2 C T 8: 5,141,755 (GRCm39) V210M probably damaging Het
Sorbs2 T C 8: 46,212,234 (GRCm39) probably benign Het
Speer4f1 T C 5: 17,684,490 (GRCm39) W173R probably damaging Het
Spon2 C A 5: 33,374,108 (GRCm39) G92W probably damaging Het
Sycp2 A T 2: 178,037,009 (GRCm39) probably benign Het
Tfb1m A G 17: 3,605,241 (GRCm39) V84A probably damaging Het
Tmem18 G T 12: 30,637,198 (GRCm39) probably null Het
Tom1l1 A G 11: 90,547,210 (GRCm39) L290S possibly damaging Het
Tube1 T G 10: 39,021,711 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,156 (GRCm39) probably null Het
Unc93b1 T A 19: 3,992,403 (GRCm39) Y269N probably benign Het
Usp16 T C 16: 87,259,030 (GRCm39) probably null Het
Vmn1r38 A T 6: 66,753,370 (GRCm39) S249T probably benign Het
Vmn1r42 T A 6: 89,821,733 (GRCm39) M279L possibly damaging Het
Zdhhc23 T A 16: 43,791,829 (GRCm39) T315S possibly damaging Het
Zfp472 T C 17: 33,194,900 (GRCm39) F12L probably benign Het
Zfr2 T C 10: 81,083,225 (GRCm39) S634P probably benign 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
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
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'- AAGAGCAGTCGCTTATCTGCCACC -3'
(R):5'- GTGACCATCAAGAAGCCCAATGGAG -3'

Sequencing Primer
(F):5'- GACTGCCAGGATCATATAGAGCC -3'
(R):5'- GCCCAATGGAGAGACCAGC -3'
Posted On 2014-04-13