Incidental Mutation 'R9267:Slc8a3'
ID 702633
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9267 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81361208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 537 (D537V)
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: D537V

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 possibly damaging
Transcript: ENSMUST00000085238
AA Change: D537V

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: D537V

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 possibly damaging
Transcript: ENSMUST00000182208
AA Change: D537V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: D537V

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: 98.7%
Validation Efficiency 98% (79/81)
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
Abcc4 G T 14: 118,869,657 (GRCm39) probably benign Het
Abcd2 T A 15: 91,063,423 (GRCm39) T422S possibly damaging Het
Acsl3 T G 1: 78,674,623 (GRCm39) I390S probably damaging Het
Adad1 T A 3: 37,139,074 (GRCm39) probably benign Het
Adam3 A G 8: 25,171,605 (GRCm39) V742A probably benign Het
Adgra3 A T 5: 50,155,618 (GRCm39) I450K possibly damaging Het
Adgrb2 T C 4: 129,885,901 (GRCm39) S14P possibly damaging Het
Arfgef3 T A 10: 18,475,028 (GRCm39) I1553F probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc27 A G 4: 154,117,441 (GRCm39) L502P probably damaging Het
Ccdc50 T A 16: 27,208,700 (GRCm39) L5Q Het
Cdh16 C T 8: 105,341,834 (GRCm39) G777D probably damaging Het
Cntn2 C A 1: 132,449,021 (GRCm39) V663L probably benign Het
Cpne4 T A 9: 104,884,833 (GRCm39) V343E probably damaging Het
Dctpp1 A T 7: 126,856,275 (GRCm39) I149N probably benign Het
Dlg5 T C 14: 24,204,745 (GRCm39) N1266S probably damaging Het
Dst A G 1: 34,232,145 (GRCm39) D3246G probably benign Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Erbin T C 13: 103,987,292 (GRCm39) T423A probably damaging Het
Erich5 C T 15: 34,471,563 (GRCm39) P264L possibly damaging Het
Fam90a1a A G 8: 22,453,091 (GRCm39) M149V probably benign Het
Fbxl18 C T 5: 142,880,870 (GRCm39) G62R possibly damaging Het
Fech A G 18: 64,591,267 (GRCm39) S386P possibly damaging Het
Fhl3 T A 4: 124,601,498 (GRCm39) probably null Het
Fkbp5 A G 17: 28,629,558 (GRCm39) S256P probably benign Het
Frem2 A G 3: 53,564,504 (GRCm39) M1T probably null Het
Galnt5 T C 2: 57,925,220 (GRCm39) F834L possibly damaging Het
Gm3618 G T 14: 17,502,588 (GRCm39) T99N unknown Het
Gm9195 T A 14: 72,700,546 (GRCm39) Q1127L possibly damaging Het
Gpsm1 A G 2: 26,236,835 (GRCm39) D643G probably damaging Het
Grm4 A G 17: 27,654,183 (GRCm39) V589A possibly damaging Het
Gskip T A 12: 105,665,052 (GRCm39) F30L probably benign Het
Haus3 T A 5: 34,311,452 (GRCm39) probably null Het
Heatr1 T C 13: 12,421,489 (GRCm39) F463S probably damaging Het
Hmcn1 G A 1: 150,473,740 (GRCm39) S4851F probably benign Het
Il16 A C 7: 83,371,757 (GRCm39) F16L probably benign Het
Itga1 C A 13: 115,185,924 (GRCm39) C26F possibly damaging Het
Itga6 A G 2: 71,668,756 (GRCm39) E565G probably benign Het
Itgb4 A G 11: 115,870,465 (GRCm39) H98R probably benign Het
Kidins220 T A 12: 25,038,558 (GRCm39) S37T probably benign Het
Lrrc37 A T 11: 103,495,406 (GRCm39) D2804E unknown Het
Lrrk2 C T 15: 91,584,629 (GRCm39) L349F probably damaging Het
Malrd1 T G 2: 16,260,077 (GRCm39) I2099S unknown Het
Mapk8ip1 A G 2: 92,216,714 (GRCm39) I492T possibly damaging Het
Mest T A 6: 30,742,141 (GRCm39) D68E Het
Mthfd1l A G 10: 3,934,154 (GRCm39) D162G probably benign Het
Nalcn A T 14: 123,518,567 (GRCm39) D1657E probably benign Het
Nbeal2 C A 9: 110,462,115 (GRCm39) V1475F probably damaging Het
Nf1 C A 11: 79,331,716 (GRCm39) Q684K possibly damaging Het
Opn5 T A 17: 42,903,793 (GRCm39) T181S probably damaging Het
Or10ag54 T C 2: 87,099,326 (GRCm39) L67P possibly damaging Het
Or1j19 A T 2: 36,676,530 (GRCm39) probably benign Het
Or7a38 A G 10: 78,752,803 (GRCm39) N43S probably damaging Het
Or9s15 A T 1: 92,524,994 (GRCm39) H251L probably damaging Het
Or9s15 A T 1: 92,524,996 (GRCm39) M252L probably benign Het
Orc4 T A 2: 48,827,534 (GRCm39) R20* probably null Het
Pik3ca T C 3: 32,492,211 (GRCm39) Y270H probably damaging Het
Pkn2 T C 3: 142,517,676 (GRCm39) E474G probably null Het
Pnma8b A T 7: 16,679,159 (GRCm39) N48Y unknown Het
Pnpla2 A C 7: 141,036,503 (GRCm39) probably benign Het
Polr1a G A 6: 71,942,542 (GRCm39) M1127I probably benign Het
Ptpre A C 7: 135,274,549 (GRCm39) D507A probably damaging Het
Rab3gap2 T C 1: 184,983,331 (GRCm39) V490A probably damaging Het
Rab44 A T 17: 29,354,338 (GRCm39) probably benign Het
Rchy1 G T 5: 92,105,831 (GRCm39) T39N probably benign Het
Ripor1 A G 8: 106,348,063 (GRCm39) D1146G unknown Het
Sh3yl1 A T 12: 30,972,335 (GRCm39) I35F possibly damaging Het
Slc22a5 A G 11: 53,764,619 (GRCm39) F276L probably benign Het
Smc4 T A 3: 68,941,786 (GRCm39) I1263N probably damaging Het
Snai2 A T 16: 14,525,120 (GRCm39) T209S possibly damaging Het
Stam2 A T 2: 52,604,903 (GRCm39) Y211N probably damaging Het
Stxbp1 A G 2: 32,708,517 (GRCm39) S83P probably damaging Het
Susd4 T C 1: 182,716,389 (GRCm39) F325L probably benign Het
Tmem245 A G 4: 56,947,236 (GRCm39) V59A probably benign Het
Tnk2 A G 16: 32,494,489 (GRCm39) D469G probably damaging Het
Tpx2 A G 2: 152,732,517 (GRCm39) D597G probably damaging Het
Ube2w A T 1: 16,612,011 (GRCm39) S170R Het
Vmn2r102 A T 17: 19,896,928 (GRCm39) I92F probably damaging Het
Vmn2r11 T A 5: 109,199,929 (GRCm39) E508V possibly damaging Het
Vmn2r30 T A 7: 7,340,432 (GRCm39) I21F possibly damaging Het
Yipf2 G A 9: 21,501,489 (GRCm39) T187M possibly damaging Het
Zbtb8a T A 4: 129,248,267 (GRCm39) K335* probably null Het
Zfp609 T C 9: 65,608,328 (GRCm39) D1184G 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
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
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'- TCCAGTAGTGTCTGCTGATCC -3'
(R):5'- TGTGAGGCTGAGCAATGTCC -3'

Sequencing Primer
(F):5'- CTGATCCCTCATACCTGTGATGAAAG -3'
(R):5'- CTGAGCAATGTCCGTGTAGAAG -3'
Posted On 2022-03-25