Incidental Mutation 'R9061:Slc8a3'
ID 688989
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 068887-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9061 (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 81263540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 616 (I616F)
Ref Sequence ENSEMBL: ENSMUSP00000138735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208] [ENSMUST00000182366]
AlphaFold S4R2P9
Predicted Effect probably benign
Transcript: ENSMUST00000064594
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055

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 benign
Transcript: ENSMUST00000085238
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055

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: I616F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: I616F

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 probably benign
Transcript: ENSMUST00000182366
SMART Domains Protein: ENSMUSP00000138803
Gene: ENSMUSG00000079055

DomainStartEndE-ValueType
PDB:2LT9|A 1 52 2e-28 PDB
low complexity region 82 93 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,133 (GRCm39) M1T probably null Het
Abca13 A G 11: 9,227,847 (GRCm39) E630G probably benign Het
Abcf2 T A 5: 24,778,504 (GRCm39) H218L possibly damaging Het
Abo A T 2: 26,733,395 (GRCm39) M268K probably benign Het
Ankrd33 G T 15: 101,014,029 (GRCm39) probably benign Het
Apc G C 18: 34,446,251 (GRCm39) R1049T probably damaging Het
Atg16l2 T C 7: 100,941,338 (GRCm39) K412E probably damaging Het
Cachd1 G A 4: 100,809,202 (GRCm39) probably null Het
Ccdc152 T G 15: 3,330,643 (GRCm39) K11Q probably damaging Het
Ccdc38 T A 10: 93,401,735 (GRCm39) W232R probably damaging Het
Cluh C T 11: 74,551,192 (GRCm39) P347L possibly damaging Het
Cntn3 A G 6: 102,314,288 (GRCm39) L142P probably damaging Het
Ctnnd2 T A 15: 30,806,884 (GRCm39) M601K probably damaging Het
D930048N14Rik G A 11: 51,545,734 (GRCm39) D209N unknown Het
Dcaf6 A T 1: 165,164,332 (GRCm39) N814K probably damaging Het
Dhx8 A T 11: 101,632,406 (GRCm39) D455V possibly damaging Het
Fcna A C 2: 25,514,956 (GRCm39) L301W possibly damaging Het
Garin1b C T 6: 29,323,902 (GRCm39) T209I probably benign Het
Gdf9 T G 11: 53,324,269 (GRCm39) C13G probably damaging Het
Hells T A 19: 38,933,858 (GRCm39) N226K probably damaging Het
Hes6 A G 1: 91,340,061 (GRCm39) S132P probably damaging Het
Ifi207 A T 1: 173,564,153 (GRCm39) probably benign Het
Ighv16-1 A T 12: 114,032,504 (GRCm39) Y99* probably null Het
Kirrel2 T C 7: 30,150,305 (GRCm39) I508V probably benign Het
Klhl38 T A 15: 58,186,022 (GRCm39) I236F probably damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lamc1 A T 1: 153,126,870 (GRCm39) C425* probably null Het
Letm1 A G 5: 33,918,213 (GRCm39) F311L probably damaging Het
Lypd11 A T 7: 24,422,173 (GRCm39) I192N possibly damaging Het
Mapk8ip2 T C 15: 89,342,016 (GRCm39) V409A possibly damaging Het
Mybpc1 C T 10: 88,391,501 (GRCm39) C318Y probably damaging Het
Myo15a A G 11: 60,393,692 (GRCm39) Y1141C Het
Ndufv2 T A 17: 66,390,475 (GRCm39) D165V probably damaging Het
Nrde2 T C 12: 100,110,123 (GRCm39) K303E probably benign Het
Nup205 T A 6: 35,196,808 (GRCm39) probably benign Het
Or1j12 A G 2: 36,342,897 (GRCm39) Q100R probably damaging Het
Or2f2 A T 6: 42,767,141 (GRCm39) H56L probably damaging Het
Or5b118 A G 19: 13,448,523 (GRCm39) N21S probably damaging Het
Otof C T 5: 30,546,001 (GRCm39) V451I possibly damaging Het
Pask G A 1: 93,253,191 (GRCm39) Q399* probably null Het
Pbk T A 14: 66,049,439 (GRCm39) F39I probably benign Het
Pdzd2 T C 15: 12,374,753 (GRCm39) K1794R possibly damaging Het
Pibf1 T C 14: 99,424,069 (GRCm39) probably null Het
Ppip5k2 G A 1: 97,645,187 (GRCm39) T1089I probably damaging Het
Ppp1cb T A 5: 32,635,492 (GRCm39) F45L possibly damaging Het
Pramel21 T G 4: 143,342,741 (GRCm39) S283A possibly damaging Het
Samd4 T C 14: 47,301,728 (GRCm39) F344S probably damaging Het
Slc2a13 C T 15: 91,234,333 (GRCm39) M334I possibly damaging Het
Slc37a1 C T 17: 31,556,365 (GRCm39) A363V probably damaging Het
Srcin1 A G 11: 97,427,206 (GRCm39) L257P probably damaging Het
Tarbp1 A G 8: 127,173,880 (GRCm39) F945L probably damaging Het
Thbs4 A T 13: 92,911,187 (GRCm39) probably null Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trim62 G A 4: 128,802,963 (GRCm39) V338M probably damaging Het
Ttll9 C T 2: 152,818,113 (GRCm39) H20Y possibly damaging Het
Uevld A T 7: 46,587,806 (GRCm39) I298N probably damaging Het
Zan T C 5: 137,462,653 (GRCm39) E842G probably damaging Het
Zdbf2 T G 1: 63,346,296 (GRCm39) S1558R 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
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'- ATGGATACCATGTGACAGGTTG -3'
(R):5'- CCTCCATGCACTTGTGGAAC -3'

Sequencing Primer
(F):5'- TACCATGTGACAGGTTGGCAGG -3'
(R):5'- CTTGTGGAACTAGGGCCAATTTGAAC -3'
Posted On 2021-11-19