Incidental Mutation 'R4951:Slc8a3'
ID 382002
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 042548-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4951 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81362760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 20 (T20S)
Ref Sequence ENSEMBL: ENSMUSP00000138735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208]
AlphaFold S4R2P9
Predicted Effect probably benign
Transcript: ENSMUST00000064594
AA Change: T20S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: T20S

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: T20S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: T20S

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: T20S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: T20S

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 0.0711 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 98% (94/96)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,088,336 (GRCm39) E452K possibly damaging Het
Adcy10 T C 1: 165,391,532 (GRCm39) L1263P probably damaging Het
Adgrg1 G A 8: 95,731,874 (GRCm39) V179M probably damaging Het
Agap1 T A 1: 89,537,225 (GRCm39) V77E probably damaging Het
Ahnak A T 19: 8,995,199 (GRCm39) K5494N probably damaging Het
Arhgap19 A G 19: 41,762,545 (GRCm39) M437T probably benign Het
C2cd4c C A 10: 79,448,839 (GRCm39) A103S possibly damaging Het
Clip1 A T 5: 123,768,408 (GRCm39) D776E probably benign Het
Cntn3 C T 6: 102,145,986 (GRCm39) V952M possibly damaging Het
Col6a6 A G 9: 105,644,397 (GRCm39) probably null Het
Crtac1 C T 19: 42,402,570 (GRCm39) A13T probably benign Het
Ddx50 C T 10: 62,469,899 (GRCm39) A363T probably damaging Het
Dock9 A G 14: 121,890,547 (GRCm39) V241A probably benign Het
Dysf T C 6: 84,091,102 (GRCm39) probably null Het
Enpp3 A T 10: 24,674,175 (GRCm39) M375K probably damaging Het
Fam13c G A 10: 70,387,621 (GRCm39) probably null Het
Ftcd C T 10: 76,420,517 (GRCm39) A417V probably benign Het
Gak A G 5: 108,730,584 (GRCm39) S941P probably benign Het
Ganc A G 2: 120,286,528 (GRCm39) T786A probably benign Het
Gfi1 A C 5: 107,868,009 (GRCm39) S420A probably damaging Het
Ghsr A T 3: 27,426,510 (GRCm39) T189S possibly damaging Het
Glb1l C T 1: 75,185,019 (GRCm39) G122D probably damaging Het
Gm10065 C T 13: 21,663,421 (GRCm39) S64N unknown Het
Gm5087 C A 14: 13,158,749 (GRCm38) noncoding transcript Het
Gm973 G A 1: 59,580,633 (GRCm39) probably null Het
Gm9930 A T 10: 9,410,449 (GRCm39) noncoding transcript Het
H6pd A T 4: 150,066,044 (GRCm39) Y781N probably damaging Het
Ide G A 19: 37,262,631 (GRCm39) L695F unknown Het
Il17re T A 6: 113,445,868 (GRCm39) V393E probably damaging Het
Lipo3 A G 19: 33,759,621 (GRCm39) V205A probably benign Het
Lipo5 C T 19: 33,446,251 (GRCm39) E49K probably damaging Het
Lonp1 A T 17: 56,927,335 (GRCm39) M306K possibly damaging Het
Lrig1 A G 6: 94,640,959 (GRCm39) L82P probably damaging Het
Lrp2 A T 2: 69,366,332 (GRCm39) C256S probably damaging Het
Map1b A T 13: 99,568,935 (GRCm39) I1262K unknown Het
Mctp1 C T 13: 76,975,894 (GRCm39) P756S probably damaging Het
Mdn1 T A 4: 32,707,459 (GRCm39) W1583R probably damaging Het
Mis12 T A 11: 70,916,473 (GRCm39) Y169N probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Msh5 G A 17: 35,257,396 (GRCm39) Q333* probably null Het
Necap2 A T 4: 140,799,834 (GRCm39) probably null Het
Nfatc2 T C 2: 168,412,992 (GRCm39) D211G probably damaging Het
Nlrx1 A G 9: 44,164,726 (GRCm39) V906A possibly damaging Het
Or2ak7 G A 11: 58,575,589 (GRCm39) V297I probably damaging Het
Or4a2 T A 2: 89,248,116 (GRCm39) I214F probably benign Het
Or4l1 A T 14: 50,166,515 (GRCm39) L162* probably null Het
Or5b125-ps1 A T 19: 13,056,620 (GRCm39) noncoding transcript Het
Or8g24 A G 9: 38,989,555 (GRCm39) F162S probably benign Het
Pate5 A G 9: 35,750,732 (GRCm39) V30A probably damaging Het
Pkhd1l1 T A 15: 44,397,287 (GRCm39) N2057K possibly damaging Het
Ppip5k2 T C 1: 97,639,474 (GRCm39) K1078R possibly damaging Het
Prdm11 A G 2: 92,810,954 (GRCm39) I215T probably damaging Het
Ptpn13 C T 5: 103,735,912 (GRCm39) P2137L probably benign Het
Rif1 T A 2: 51,974,998 (GRCm39) probably null Het
Rnf17 T C 14: 56,759,848 (GRCm39) V1551A probably benign Het
Ror2 C T 13: 53,271,183 (GRCm39) V391I probably benign Het
Rps6ka2 A T 17: 7,560,188 (GRCm39) D542V probably damaging Het
Sema4g A G 19: 44,985,010 (GRCm39) probably null Het
Serpinb6d T G 13: 33,850,366 (GRCm39) S64R probably benign Het
Serpine1 C T 5: 137,098,205 (GRCm39) R156K probably benign Het
Setdb2 A G 14: 59,639,752 (GRCm39) I713T possibly damaging Het
Slamf7 A G 1: 171,466,693 (GRCm39) F171L probably benign Het
Slc15a5 A G 6: 138,050,064 (GRCm39) L117S probably damaging Het
Smc2 G A 4: 52,462,926 (GRCm39) V639M possibly damaging Het
Sra1 A T 18: 36,809,494 (GRCm39) C223* probably null Het
Srgap1 A T 10: 121,621,457 (GRCm39) M1012K probably benign Het
Stk-ps2 A T 1: 46,068,602 (GRCm39) noncoding transcript Het
Taar6 A T 10: 23,861,106 (GRCm39) S147T probably benign Het
Taf15 G A 11: 83,375,637 (GRCm39) G34D possibly damaging Het
Tarbp1 T C 8: 127,174,184 (GRCm39) E874G possibly damaging Het
Tob2 T C 15: 81,735,924 (GRCm39) Y15C probably damaging Het
Trim12a A G 7: 103,953,565 (GRCm39) V182A possibly damaging Het
Trim67 A G 8: 125,521,406 (GRCm39) E256G probably benign Het
Trrap T A 5: 144,742,530 (GRCm39) S1382T possibly damaging Het
Ttc39d T A 17: 80,523,462 (GRCm39) S40R probably benign Het
Ttn A T 2: 76,779,406 (GRCm39) V1158E probably benign Het
Vmn1r19 C T 6: 57,381,927 (GRCm39) T160I probably benign Het
Vmn2r100 T C 17: 19,752,300 (GRCm39) I781T probably benign Het
Vmn2r85 T C 10: 130,261,113 (GRCm39) E408G probably damaging Het
Vwde T C 6: 13,187,138 (GRCm39) D783G probably damaging Het
Wdr27 A T 17: 15,096,395 (GRCm39) D796E probably damaging Het
Zfp365 C T 10: 67,725,821 (GRCm39) probably null Het
Zfp9 T G 6: 118,441,408 (GRCm39) H418P probably 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 81,361,473 (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'- TGACCCTGGCAATCTTGTC -3'
(R):5'- GTGCCATATGTCAATCGAGGTG -3'

Sequencing Primer
(F):5'- TGGCAATCTTGTCCCCAAGG -3'
(R):5'- TCGAGGTGAACCATCCATTTG -3'
Posted On 2016-04-27