Incidental Mutation 'R1563:Slc8a3'
ID 170775
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 039602-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1563 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 81244689-81379954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81251781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 640 (D640V)
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
AA Change: D639V

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: D639V

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
AA Change: D633V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: D633V

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: D640V

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: D640V

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
AA Change: D10V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138803
Gene: ENSMUSG00000079055
AA Change: D10V

DomainStartEndE-ValueType
PDB:2LT9|A 1 52 2e-28 PDB
low complexity region 82 93 N/A INTRINSIC
Meta Mutation Damage Score 0.2009 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 98% (82/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,001,569 (GRCm39) M22T probably benign Het
A930018M24Rik A G 14: 51,134,576 (GRCm39) L22P probably damaging Het
Aipl1 A T 11: 71,927,538 (GRCm39) M59K probably damaging Het
Atg2b T C 12: 105,589,747 (GRCm39) I1835V probably damaging Het
Cacna1i A T 15: 80,274,056 (GRCm39) probably benign Het
Cacna1i T C 15: 80,205,389 (GRCm39) V115A probably damaging Het
Catsperb T A 12: 101,554,361 (GRCm39) M685K probably damaging Het
Cdh10 T A 15: 18,986,853 (GRCm39) Y361* probably null Het
Clcn4 C T 7: 7,296,981 (GRCm39) C219Y probably damaging Het
Cpeb2 G A 5: 43,443,080 (GRCm39) V924M probably damaging Het
Cpxm2 T C 7: 131,745,411 (GRCm39) E138G probably benign Het
Dennd1a T C 2: 37,748,441 (GRCm39) Y346C probably damaging Het
Dnah8 T A 17: 30,854,638 (GRCm39) L100Q probably benign Het
Dnajc6 A C 4: 101,456,334 (GRCm39) N76T probably damaging Het
Ehbp1 A G 11: 22,009,231 (GRCm39) L954P probably damaging Het
Eral1 A T 11: 77,966,232 (GRCm39) D315E probably benign Het
Fbln2 G T 6: 91,240,365 (GRCm39) E724* probably null Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Fzd3 T A 14: 65,473,173 (GRCm39) E198D probably damaging Het
Fzd9 T C 5: 135,279,408 (GRCm39) N159S probably damaging Het
Galnt6 T A 15: 100,601,259 (GRCm39) Q340L probably benign Het
Gm20939 C T 17: 95,184,522 (GRCm39) A390V probably damaging Het
Gm5435 T G 12: 82,542,464 (GRCm39) noncoding transcript Het
Gm9949 A C 18: 62,317,089 (GRCm39) probably benign Het
Gprc5b G A 7: 118,582,984 (GRCm39) T295I probably benign Het
Gria2 G T 3: 80,598,704 (GRCm39) Q777K probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Haao T C 17: 84,142,318 (GRCm39) T174A probably benign Het
Hes6 A T 1: 91,340,858 (GRCm39) M1K probably null Het
Hook3 G T 8: 26,600,780 (GRCm39) Q43K probably benign Het
Klhl35 T C 7: 99,120,902 (GRCm39) V390A probably damaging Het
Myh9 G T 15: 77,656,057 (GRCm39) T1151K probably damaging Het
Nbn A T 4: 15,981,668 (GRCm39) I587F possibly damaging Het
Nek4 A G 14: 30,704,408 (GRCm39) D696G probably damaging Het
Niban1 A T 1: 151,591,424 (GRCm39) Y522F possibly damaging Het
Nlrp2 T C 7: 5,311,724 (GRCm39) D52G probably damaging Het
Oit3 G T 10: 59,263,896 (GRCm39) R413S probably damaging Het
Or4k48 T A 2: 111,476,027 (GRCm39) H105L probably damaging Het
Or6c1b A G 10: 129,273,580 (GRCm39) M300V probably benign Het
Otof T C 5: 30,528,349 (GRCm39) T1870A probably benign Het
Pdgfd T C 9: 6,293,939 (GRCm39) probably null Het
Pitrm1 T C 13: 6,613,506 (GRCm39) V526A possibly damaging Het
Pknox1 T C 17: 31,814,256 (GRCm39) S194P probably damaging Het
Plekhg5 T C 4: 152,181,266 (GRCm39) S8P probably benign Het
Ppp1r13b T C 12: 111,807,416 (GRCm39) E157G probably damaging Het
Psmd3 C T 11: 98,585,051 (GRCm39) R466W probably damaging Het
Ptgfrn A G 3: 100,967,967 (GRCm39) F542S possibly damaging Het
Ptgs1 A T 2: 36,135,214 (GRCm39) M393L possibly damaging Het
Qpct T A 17: 79,371,492 (GRCm39) S87T probably benign Het
Qtrt1 T A 9: 21,330,607 (GRCm39) V269D probably benign Het
Rassf9 C G 10: 102,380,821 (GRCm39) R68G probably damaging Het
Relch A G 1: 105,647,259 (GRCm39) Y707C probably damaging Het
Rif1 A G 2: 51,963,235 (GRCm39) E25G probably damaging Het
Rnf213 T C 11: 119,305,352 (GRCm39) F528L probably benign Het
Sgip1 T C 4: 102,823,457 (GRCm39) S693P probably benign Het
She A G 3: 89,761,921 (GRCm39) D460G probably benign Het
Sipa1l1 G T 12: 82,387,935 (GRCm39) V54L probably benign Het
Smurf1 T A 5: 144,819,323 (GRCm39) E601D probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Synpo2l A G 14: 20,711,346 (GRCm39) S425P probably damaging Het
Tbck T C 3: 132,421,454 (GRCm39) V187A possibly damaging Het
Tcf23 A T 5: 31,126,175 (GRCm39) H18L probably benign Het
Tcp11l2 A G 10: 84,420,808 (GRCm39) S16G probably damaging Het
Tekt2 T A 4: 126,217,200 (GRCm39) M233L probably benign Het
Tex14 T C 11: 87,427,634 (GRCm39) S29P probably damaging Het
Tjp2 T A 19: 24,110,067 (GRCm39) N59I probably damaging Het
Tlr5 G A 1: 182,802,575 (GRCm39) M626I probably benign Het
Tnn A T 1: 159,952,985 (GRCm39) V685D probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trhr G A 15: 44,060,497 (GRCm39) V6I probably benign Het
Trim30c C T 7: 104,032,158 (GRCm39) R301Q probably benign Het
Usp51 T C X: 151,790,988 (GRCm39) I194T probably benign Het
Vmn2r63 A G 7: 42,553,550 (GRCm39) S569P probably benign Het
Vps26a T G 10: 62,300,459 (GRCm39) I236L probably benign Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zcchc14 T C 8: 122,330,718 (GRCm39) M882V probably benign Het
Zfhx2 A G 14: 55,302,545 (GRCm39) V1813A probably benign Het
Zswim2 C T 2: 83,745,626 (GRCm39) G604D possibly damaging Het
Zzef1 C T 11: 72,739,559 (GRCm39) Q669* 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
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
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'- GGAAATACCCAGTTCTACTCCTGTCCC -3'
(R):5'- CAGCTCTGCAACCAAACGTCTTG -3'

Sequencing Primer
(F):5'- GTCCCCCACCTTAATTAGCTATC -3'
(R):5'- CAAACGTCTTGGGGACTTAAC -3'
Posted On 2014-04-13