Incidental Mutation 'R7657:Slc8a3'
ID 591291
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 045733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7657 (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 C at 81361158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 554 (R554G)
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: R554G

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: R554G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: R554G

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: R554G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: R554G

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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (80/80)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,337 (GRCm39) E28G possibly damaging Het
Acot6 G A 12: 84,153,304 (GRCm39) G182D possibly damaging Het
Actl9 A G 17: 33,652,014 (GRCm39) T25A probably benign Het
Adam26b G A 8: 43,974,579 (GRCm39) T141I possibly damaging Het
Agl T C 3: 116,572,812 (GRCm39) H148R Het
Angptl1 A G 1: 156,684,790 (GRCm39) I320V probably benign Het
Arhgef10 C T 8: 15,029,893 (GRCm39) R932C probably damaging Het
Atp13a2 A G 4: 140,719,815 (GRCm39) E91G possibly damaging Het
Bptf T A 11: 106,965,555 (GRCm39) E1213V probably damaging Het
C530025M09Rik A G 2: 149,672,541 (GRCm39) V198A unknown Het
Casd1 A T 6: 4,619,773 (GRCm39) I173F probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Col1a2 A T 6: 4,527,152 (GRCm39) K627M probably null Het
Ctcfl G A 2: 172,955,449 (GRCm39) T271I possibly damaging Het
Dctn2 T C 10: 127,102,383 (GRCm39) Y6H probably damaging Het
Denr T C 5: 124,046,263 (GRCm39) V31A probably damaging Het
Entpd7 T C 19: 43,713,906 (GRCm39) F422L possibly damaging Het
Fastkd5 G C 2: 130,458,176 (GRCm39) P138R probably benign Het
Fmn1 G T 2: 113,355,538 (GRCm39) A758S unknown Het
Fmo2 A G 1: 162,716,413 (GRCm39) V58A probably damaging Het
Fmo6 A G 1: 162,750,285 (GRCm39) I257T probably benign Het
Foxn1 T C 11: 78,256,790 (GRCm39) T302A probably benign Het
Ganab C T 19: 8,884,721 (GRCm39) L175F probably damaging Het
Gga1 A T 15: 78,773,327 (GRCm39) probably null Het
Gjd3 G T 11: 98,873,586 (GRCm39) S86* probably null Het
Gm1330 A G 2: 148,841,154 (GRCm39) probably null Het
Gm18596 A C 10: 77,577,947 (GRCm39) S176A unknown Het
Gnl2 A G 4: 124,923,951 (GRCm39) S10G probably benign Het
Gpsm2 G A 3: 108,608,061 (GRCm39) A239V probably damaging Het
Grik2 T C 10: 49,659,247 (GRCm39) R37G probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Gtpbp3 T C 8: 71,943,765 (GRCm39) L216P probably benign Het
Hhla1 T C 15: 65,837,308 (GRCm39) T99A probably damaging Het
Igtp A T 11: 58,097,654 (GRCm39) Q275L probably benign Het
Itga6 G A 2: 71,676,595 (GRCm39) A993T probably benign Het
Jakmip3 T A 7: 138,620,903 (GRCm39) I234N probably damaging Het
Kcnh7 A G 2: 62,566,379 (GRCm39) F851L probably damaging Het
Krr1 A G 10: 111,811,504 (GRCm39) Y66C probably damaging Het
Krt33a T A 11: 99,906,693 (GRCm39) Q94L probably benign Het
Mat1a A T 14: 40,844,476 (GRCm39) K369* probably null Het
Mbd1 T G 18: 74,407,804 (GRCm39) L277R probably damaging Het
Mmp21 C T 7: 133,280,562 (GRCm39) G136D probably benign Het
Mroh3 A G 1: 136,109,532 (GRCm39) Y892H possibly damaging Het
Ncbp3 G A 11: 72,964,193 (GRCm39) R381Q probably damaging Het
Nlrp2 T A 7: 5,322,167 (GRCm39) I827L probably benign Het
Nrip1 T A 16: 76,091,587 (GRCm39) probably null Het
Or2ak4 A T 11: 58,648,755 (GRCm39) D88V probably benign Het
Or4f6 A G 2: 111,839,093 (GRCm39) V146A probably benign Het
Or5w13 C T 2: 87,523,336 (GRCm39) V297I probably damaging Het
Oxt C T 2: 130,418,710 (GRCm39) P107L possibly damaging Het
Pcdhga2 G A 18: 37,803,481 (GRCm39) V442M probably damaging Het
Phtf1 T G 3: 103,876,429 (GRCm39) S10A probably benign Het
Plb1 A C 5: 32,487,211 (GRCm39) N902T probably damaging Het
Plppr3 T C 10: 79,702,272 (GRCm39) I267V probably benign Het
Pms2 C A 5: 143,856,357 (GRCm39) H278Q possibly damaging Het
Pmvk T A 3: 89,376,158 (GRCm39) S154T possibly damaging Het
Polr3b T A 10: 84,491,855 (GRCm39) M338K probably damaging Het
Ppp1r21 T A 17: 88,863,110 (GRCm39) I283N probably damaging Het
Ptprj A T 2: 90,282,501 (GRCm39) probably null Het
Rft1 T A 14: 30,388,724 (GRCm39) L216H probably damaging Het
Rpl3 G A 15: 79,965,258 (GRCm39) P174S probably benign Het
Rtl1 T C 12: 109,561,818 (GRCm39) D7G possibly damaging Het
Slc13a2 A G 11: 78,289,223 (GRCm39) V496A probably damaging Het
Slc14a1 A G 18: 78,156,879 (GRCm39) probably null Het
Spata31d1b T C 13: 59,863,577 (GRCm39) S242P possibly damaging Het
Spocd1 G A 4: 129,823,535 (GRCm39) V111I Het
Stxbp5l G A 16: 37,030,534 (GRCm39) A479V probably null Het
Tasor2 A G 13: 3,623,777 (GRCm39) S2058P probably damaging Het
Tmem238 C G 7: 4,792,226 (GRCm39) G106R probably damaging Het
Trak1 T G 9: 121,301,652 (GRCm39) Y803D probably damaging Het
Trim5 T C 7: 103,925,884 (GRCm39) S226G possibly damaging Het
Trim6 T A 7: 103,881,068 (GRCm39) D282E possibly damaging Het
Ube2e2 A G 14: 18,586,997 (GRCm38) V121A probably benign Het
Ufd1 T G 16: 18,636,713 (GRCm39) M77R probably benign Het
Unc13c C T 9: 73,441,185 (GRCm39) probably null Het
Wfs1 A G 5: 37,125,578 (GRCm39) S438P probably benign Het
Zbtb6 A C 2: 37,319,087 (GRCm39) D280E probably benign Het
Zfp595 G A 13: 67,465,817 (GRCm39) L152F probably damaging Het
Zfpm2 A G 15: 40,966,671 (GRCm39) E1052G possibly damaging Het
Zmym5 A G 14: 57,041,653 (GRCm39) V150A 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
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'- TCCCTCATACCTGTGATGAAAGC -3'
(R):5'- TGTCCGTGTAGAAGAGGAGC -3'

Sequencing Primer
(F):5'- TACCTGTGATGAAAGCAAAGTTTGG -3'
(R):5'- CCGTGTAGAAGAGGAGCAGCTG -3'
Posted On 2019-11-12