Incidental Mutation 'R0627:Slc8a3'
ID 57640
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 038816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0627 (G1)
Quality Score 192
Status Validated
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81361616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 401 (D401V)
Ref Sequence ENSEMBL: ENSMUSP00000138735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208]
AlphaFold S4R2P9
Predicted Effect possibly damaging
Transcript: ENSMUST00000064594
AA Change: D401V

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: D401V

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: D401V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: D401V

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: D401V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: D401V

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 0.3711 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.2%
Validation Efficiency 99% (111/112)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 T A 15: 89,208,508 (GRCm39) Y149* probably null Het
Ahi1 G A 10: 20,841,421 (GRCm39) R236H probably benign Het
Armcx4 A G X: 133,596,572 (GRCm39) N2160S possibly damaging Het
Asns A T 6: 7,675,516 (GRCm39) D495E probably benign Het
Atosb G T 4: 43,036,242 (GRCm39) P163Q probably damaging Het
Bcl9 A G 3: 97,112,789 (GRCm39) V1222A probably damaging Het
Cd46 A T 1: 194,774,494 (GRCm39) C14S probably benign Het
Cdk11b T A 4: 155,725,229 (GRCm39) probably benign Het
Cdkl3 T C 11: 51,902,135 (GRCm39) Y115H probably damaging Het
Cep41 C A 6: 30,656,630 (GRCm39) C274F probably damaging Het
Ces1a C A 8: 93,768,671 (GRCm39) V108F probably benign Het
Clca4b A G 3: 144,634,020 (GRCm39) Y132H probably benign Het
Col5a3 T C 9: 20,686,781 (GRCm39) E1323G unknown Het
Cttnbp2 A G 6: 18,367,372 (GRCm39) *1139Q probably null Het
Cyp2d9 T A 15: 82,339,991 (GRCm39) I127N probably damaging Het
Dennd1b A G 1: 139,008,957 (GRCm39) Y220C probably damaging Het
Desi2 T C 1: 178,076,918 (GRCm39) S141P possibly damaging Het
Dgcr2 A G 16: 17,661,872 (GRCm39) S453P probably damaging Het
Dnah3 A G 7: 119,620,138 (GRCm39) L1586P probably damaging Het
Dpep3 T C 8: 106,705,363 (GRCm39) D129G possibly damaging Het
Eci3 C T 13: 35,132,126 (GRCm39) V241I possibly damaging Het
Ecm2 A T 13: 49,674,559 (GRCm39) probably benign Het
Emilin3 A G 2: 160,750,096 (GRCm39) L551P probably damaging Het
Erap1 A C 13: 74,823,933 (GRCm39) probably benign Het
Ern1 T C 11: 106,289,519 (GRCm39) D928G probably benign Het
Fancc C A 13: 63,465,292 (GRCm39) A472S probably damaging Het
Fkbp7 A T 2: 76,503,188 (GRCm39) D57E probably damaging Het
Gabbr2 T A 4: 46,681,223 (GRCm39) I703F possibly damaging Het
Gabrg3 A T 7: 56,374,343 (GRCm39) C408S probably damaging Het
Gm8674 T C 13: 50,053,751 (GRCm39) noncoding transcript Het
Gnas G A 2: 174,139,928 (GRCm39) probably benign Het
Grhl3 A G 4: 135,279,992 (GRCm39) V354A probably benign Het
Gsdme G T 6: 50,206,259 (GRCm39) probably benign Het
H2-D1 A G 17: 35,484,898 (GRCm39) E253G probably damaging Het
Habp2 A G 19: 56,302,478 (GRCm39) T31A probably damaging Het
Ifrd1 A G 12: 40,256,986 (GRCm39) probably null Het
Il20 A G 1: 130,837,476 (GRCm39) probably benign Het
Isx A T 8: 75,619,328 (GRCm39) I160F possibly damaging Het
Itgb2l T G 16: 96,224,111 (GRCm39) probably benign Het
Kcnv1 T G 15: 44,976,277 (GRCm39) probably benign Het
Kif17 T C 4: 138,015,798 (GRCm39) probably null Het
Kirrel3 A C 9: 34,946,470 (GRCm39) D743A probably damaging Het
Lmod3 T C 6: 97,225,032 (GRCm39) D263G probably damaging Het
Manf A G 9: 106,766,385 (GRCm39) L132P probably damaging Het
Mark2 C T 19: 7,259,325 (GRCm39) probably null Het
Med10 G A 13: 69,963,720 (GRCm39) S107N possibly damaging Het
Med31 A G 11: 72,104,601 (GRCm39) probably null Het
Mki67 C A 7: 135,309,987 (GRCm39) A155S probably benign Het
Mprip T A 11: 59,660,798 (GRCm39) L2193Q probably damaging Het
Mylk A G 16: 34,820,799 (GRCm39) N126S probably damaging Het
Myo16 A G 8: 10,489,689 (GRCm39) I715V probably benign Het
Myo18b T C 5: 112,946,700 (GRCm39) T1591A probably benign Het
Myt1 T A 2: 181,437,482 (GRCm39) D64E probably benign Het
Ndufa10 A T 1: 92,397,618 (GRCm39) Y61N probably damaging Het
Nob1 A G 8: 108,142,856 (GRCm39) F275S probably damaging Het
Nop2 T C 6: 125,116,667 (GRCm39) V333A possibly damaging Het
Ogdh T A 11: 6,297,216 (GRCm39) V545D possibly damaging Het
Or1l4b T G 2: 37,036,342 (GRCm39) N39K probably damaging Het
Or4p21 A G 2: 88,276,563 (GRCm39) S240P probably damaging Het
Or5b107 A G 19: 13,142,614 (GRCm39) T79A probably benign Het
Or5t16 T C 2: 86,819,358 (GRCm39) N54S probably benign Het
Or6d13 T A 6: 116,517,949 (GRCm39) N178K possibly damaging Het
Or6n2 G T 1: 173,897,643 (GRCm39) V260F probably damaging Het
Or9k2b A G 10: 130,016,557 (GRCm39) F64S probably damaging Het
Pcdhb1 T C 18: 37,398,774 (GRCm39) F242L probably damaging Het
Pkd2l2 A G 18: 34,558,155 (GRCm39) Y278C probably damaging Het
Plxdc1 T A 11: 97,823,030 (GRCm39) probably null Het
Ppp2r5b A G 19: 6,282,664 (GRCm39) probably benign Het
Pramel31 C A 4: 144,089,416 (GRCm39) L245I probably benign Het
Prelid2 T A 18: 42,070,717 (GRCm39) T39S possibly damaging Het
Prkd1 A T 12: 50,536,824 (GRCm39) F87I probably benign Het
Prl3d3 C T 13: 27,340,830 (GRCm39) T4I probably damaging Het
Proser3 T A 7: 30,240,208 (GRCm39) T299S probably benign Het
Ptprc G T 1: 137,996,058 (GRCm39) H1095N probably damaging Het
Rab11fip5 G T 6: 85,325,033 (GRCm39) P425T probably benign Het
Rac2 T C 15: 78,449,168 (GRCm39) T115A probably damaging Het
Rtl9 C A X: 141,884,271 (GRCm39) T561K possibly damaging Het
Runx2 T C 17: 44,969,392 (GRCm39) probably benign Het
Rxfp1 C T 3: 79,555,518 (GRCm39) V613I probably benign Het
Scn9a T C 2: 66,367,721 (GRCm39) K656R probably benign Het
Sec31b A G 19: 44,514,046 (GRCm39) S406P probably benign Het
Septin5 T C 16: 18,444,115 (GRCm39) D44G possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc35c2 T C 2: 165,124,056 (GRCm39) T94A possibly damaging Het
Slitrk1 A T 14: 109,149,671 (GRCm39) C347S probably damaging Het
Smg1 G T 7: 117,767,084 (GRCm39) probably benign Het
Snx14 T C 9: 88,276,483 (GRCm39) K610E probably benign Het
Spata31e2 A G 1: 26,724,970 (GRCm39) M70T probably benign Het
Sppl2a A G 2: 126,762,337 (GRCm39) probably benign Het
Stk-ps2 T A 1: 46,068,851 (GRCm39) noncoding transcript Het
Sult3a1 T C 10: 33,740,010 (GRCm39) M23T probably benign Het
Syt5 A G 7: 4,548,682 (GRCm39) L50P possibly damaging Het
Tacr1 A G 6: 82,532,012 (GRCm39) I303V possibly damaging Het
Trip12 C A 1: 84,746,318 (GRCm39) V487F probably damaging Het
Vcp A G 4: 42,983,011 (GRCm39) S612P possibly damaging Het
Vmn1r47 A G 6: 89,999,788 (GRCm39) I307V probably null Het
Vmn1r83 T G 7: 12,055,919 (GRCm39) D46A probably damaging Het
Vmn2r118 G T 17: 55,917,772 (GRCm39) Q247K probably benign Het
Vmn2r94 C T 17: 18,477,427 (GRCm39) C328Y probably damaging Het
Vps13b T A 15: 35,372,145 (GRCm39) Y13* probably null Het
Vps13d C T 4: 144,813,754 (GRCm39) R3241H probably damaging Het
Wdr5b A G 16: 35,862,840 (GRCm39) T320A probably benign Het
Zfhx2 A T 14: 55,302,784 (GRCm39) D1733E probably benign Het
Zfp541 A G 7: 15,829,607 (GRCm39) probably benign Het
Zfp708 A T 13: 67,218,781 (GRCm39) Y314* probably null 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
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
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'- TACACGGACATTGCTCAGCCTCAC -3'
(R):5'- AACAGAAGAGCCGTGCTTTCTACC -3'

Sequencing Primer
(F):5'- ACAGAGAACTCCTTCTGGGTC -3'
(R):5'- GTGCTTTCTACCGCATCCAAG -3'
Posted On 2013-07-11