Incidental Mutation 'R7985:Slc8a3'
ID 651447
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 046026-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7985 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81361767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 351 (R351C)
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: R351C

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: R351C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: R351C

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: R351C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: R351C

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,494,693 (GRCm39) S77R unknown Het
Adamts1 T C 16: 85,595,002 (GRCm39) Y582C probably damaging Het
Ahnak2 A T 12: 112,745,398 (GRCm39) V683E Het
Allc T G 12: 28,603,971 (GRCm39) T371P probably damaging Het
Ankrd12 A G 17: 66,291,191 (GRCm39) I1414T probably benign Het
Bahcc1 A G 11: 120,163,717 (GRCm39) K672E probably damaging Het
C3ar1 A T 6: 122,826,964 (GRCm39) S418T probably damaging Het
Calca A G 7: 114,234,413 (GRCm39) V12A possibly damaging Het
Carmil3 A G 14: 55,734,409 (GRCm39) E410G probably benign Het
Cfh A G 1: 140,036,564 (GRCm39) F680S probably damaging Het
Cracd T C 5: 76,805,897 (GRCm39) V123A unknown Het
Csf3 G A 11: 98,593,273 (GRCm39) G130D probably damaging Het
Cuedc1 A T 11: 88,073,342 (GRCm39) Q169L probably benign Het
Cyp2c66 T A 19: 39,102,430 (GRCm39) W20R probably null Het
Dguok C T 6: 83,457,914 (GRCm39) E240K probably damaging Het
Dlg1 T G 16: 31,606,923 (GRCm39) Y220* probably null Het
Dnah7a T C 1: 53,557,886 (GRCm39) Y2176C probably damaging Het
Dnai1 T C 4: 41,630,055 (GRCm39) I488T probably benign Het
Dock1 G T 7: 134,348,683 (GRCm39) C299F possibly damaging Het
Ebi3 C T 17: 56,260,997 (GRCm39) T59M probably benign Het
Esrp1 G A 4: 11,367,153 (GRCm39) S160F probably benign Het
Evi5l A G 8: 4,253,536 (GRCm39) D471G probably benign Het
Farp2 T C 1: 93,504,246 (GRCm39) F341S probably damaging Het
Fbn1 A G 2: 125,143,798 (GRCm39) V2777A probably benign Het
Glcci1 T C 6: 8,573,186 (GRCm39) I225T probably damaging Het
Gm3336 A G 8: 71,173,176 (GRCm39) T63A unknown Het
Gm9767 A G 10: 25,954,681 (GRCm39) T78A unknown Het
H2-T5 T G 17: 36,478,445 (GRCm39) T168P probably damaging Het
Habp4 T A 13: 64,323,860 (GRCm39) M261K probably benign Het
Herc2 A G 7: 55,814,992 (GRCm39) T2744A probably benign Het
Hlx A G 1: 184,464,223 (GRCm39) V39A probably benign Het
Ifi204 G A 1: 173,587,772 (GRCm39) T129I possibly damaging Het
Itfg1 A G 8: 86,452,197 (GRCm39) I534T probably damaging Het
Klhl33 A T 14: 51,128,962 (GRCm39) C496S probably benign Het
Lamb1 T A 12: 31,350,214 (GRCm39) V713D possibly damaging Het
Mon2 G T 10: 122,852,213 (GRCm39) H1052Q probably damaging Het
Ndst2 T C 14: 20,778,478 (GRCm39) probably null Het
Nphp1 A T 2: 127,587,829 (GRCm39) M582K probably damaging Het
Nt5el C T 13: 105,256,482 (GRCm39) T517I probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or2w3b A G 11: 58,623,532 (GRCm39) V153A possibly damaging Het
Or8b47 T A 9: 38,435,239 (GRCm39) D70E probably damaging Het
Padi2 A T 4: 140,659,403 (GRCm39) H236L probably benign Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Psenen T C 7: 30,261,503 (GRCm39) I75V probably benign Het
Pycr1 A T 11: 120,533,746 (GRCm39) M37K probably benign Het
Rpl4 T A 9: 64,085,212 (GRCm39) N317K probably damaging Het
Scart2 T A 7: 139,876,806 (GRCm39) D732E probably damaging Het
Scn8a T A 15: 100,914,843 (GRCm39) probably null Het
Sdk1 A G 5: 142,113,602 (GRCm39) T1550A probably damaging Het
Shisa6 G T 11: 66,265,990 (GRCm39) T246K Het
Sis A T 3: 72,844,294 (GRCm39) probably null Het
Slc22a14 A C 9: 118,999,704 (GRCm39) S496A probably benign Het
Surf2 A G 2: 26,809,288 (GRCm39) K202R probably benign Het
Tnxb T A 17: 34,935,984 (GRCm39) probably null Het
Ugt2b36 T A 5: 87,239,983 (GRCm39) N134I probably damaging Het
Wdr97 T C 15: 76,245,687 (GRCm39) V1308A Het
Xpr1 G A 1: 155,188,641 (GRCm39) A333V possibly damaging Het
Zfp408 A T 2: 91,476,776 (GRCm39) M126K probably benign Het
Zfy2 T C Y: 2,116,263 (GRCm39) Q259R 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
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
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'- GGCACTGATAAGAACATGGGTC -3'
(R):5'- TTATCATTGAGACAGAGGGTGAC -3'

Sequencing Primer
(F):5'- TCAAAGAAGACCTTAGAGGCAAAGTC -3'
(R):5'- CCCTAAGGGCATTGAGATGG -3'
Posted On 2020-09-15