Incidental Mutation 'R6300:Slc8a3'
ID 509056
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 044409-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6300 (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 81361752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 356 (I356F)
Ref Sequence ENSEMBL: ENSMUSP00000138735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064594] [ENSMUST00000085238] [ENSMUST00000182208]
AlphaFold S4R2P9
Predicted Effect probably damaging
Transcript: ENSMUST00000064594
AA Change: I356F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: I356F

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: I356F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: I356F

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: I356F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: I356F

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 noncoding transcript
Transcript: ENSMUST00000183102
Meta Mutation Damage Score 0.5516 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (72/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,642,885 (GRCm39) T185A possibly damaging Het
4932414N04Rik A G 2: 68,561,453 (GRCm39) Y260C possibly damaging Het
Adamtsl1 G A 4: 86,166,254 (GRCm39) G395S probably damaging Het
Amn T C 12: 111,240,623 (GRCm39) L85P probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Ap1s3 T C 1: 79,602,840 (GRCm39) K56E probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apip C T 2: 102,917,498 (GRCm39) R66C possibly damaging Het
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Apol6 A T 15: 76,935,471 (GRCm39) I247L probably benign Het
Arfgap2 A G 2: 91,097,540 (GRCm39) Q112R probably benign Het
Armh1 A G 4: 117,088,979 (GRCm39) Y139H probably damaging Het
Bag6 T C 17: 35,357,577 (GRCm39) V122A probably damaging Het
Bmal2 A G 6: 146,723,444 (GRCm39) Y258C probably damaging Het
Cacna1e T A 1: 154,301,678 (GRCm39) T1685S probably benign Het
Cct2 C T 10: 116,892,064 (GRCm39) G328D probably damaging Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cers5 G T 15: 99,670,100 (GRCm39) A54E probably damaging Het
Ctdp1 T A 18: 80,502,455 (GRCm39) M152L probably benign Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Defb36 T A 2: 152,454,418 (GRCm39) W26R probably damaging Het
Dnah17 T C 11: 117,925,136 (GRCm39) E3899G probably damaging Het
Dnah6 A T 6: 73,042,798 (GRCm39) I3208N probably damaging Het
Dnah7b T C 1: 46,365,046 (GRCm39) F3609S probably damaging Het
Duox1 T G 2: 122,168,181 (GRCm39) L1102R probably damaging Het
Dzip3 A G 16: 48,772,170 (GRCm39) S500P probably damaging Het
Endod1 T C 9: 14,268,166 (GRCm39) T440A probably benign Het
Exph5 A G 9: 53,285,246 (GRCm39) T776A possibly damaging Het
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Hoxd3 A G 2: 74,574,420 (GRCm39) Y22C probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il6ra A G 3: 89,794,436 (GRCm39) V175A probably damaging Het
Kat6a A G 8: 23,429,628 (GRCm39) Q1661R unknown Het
Klhl18 T A 9: 110,265,130 (GRCm39) N362I probably benign Het
Marchf10 T C 11: 105,273,063 (GRCm39) E692G probably damaging Het
Mars1 G A 10: 127,132,429 (GRCm39) T856M probably benign Het
Mef2b C T 8: 70,619,769 (GRCm39) T285I possibly damaging Het
Mmrn2 T C 14: 34,119,614 (GRCm39) S198P probably benign Het
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S probably damaging Het
Or52e19 A T 7: 102,959,636 (GRCm39) H236L probably benign Het
Or52e7 G A 7: 104,684,878 (GRCm39) V158M probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pepd G A 7: 34,668,968 (GRCm39) R196H probably damaging Het
Pla2g4e A T 2: 120,013,219 (GRCm39) M367K probably benign Het
Prdm4 A G 10: 85,746,085 (GRCm39) probably null Het
Reln A G 5: 22,101,839 (GRCm39) Y3364H probably damaging Het
Rufy4 T A 1: 74,172,383 (GRCm39) S369T probably benign Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Safb2 T C 17: 56,870,226 (GRCm39) H950R possibly damaging Het
Serpina3k A T 12: 104,306,981 (GRCm39) N71I probably damaging Het
Sez6 T C 11: 77,867,367 (GRCm39) V788A possibly damaging Het
Sfrp4 G A 13: 19,808,023 (GRCm39) A141T probably damaging Het
Skor1 A T 9: 63,052,596 (GRCm39) W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,084,344 (GRCm39) T78M probably damaging Het
Smc4 T C 3: 68,935,224 (GRCm39) V771A probably benign Het
Snapc4 A G 2: 26,268,563 (GRCm39) S33P probably benign Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tjp3 T A 10: 81,116,951 (GRCm39) R193* probably null Het
Tm7sf2 A T 19: 6,117,230 (GRCm39) W58R probably damaging Het
Top3a T C 11: 60,640,234 (GRCm39) D488G probably benign Het
Ttc21a T C 9: 119,790,905 (GRCm39) S884P possibly damaging Het
Usp17lb A G 7: 104,489,898 (GRCm39) L342P probably damaging Het
Utrn T A 10: 12,377,220 (GRCm39) Y2612F probably benign Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp382 G A 7: 29,831,054 (GRCm39) probably null Het
Zfp672 A T 11: 58,208,094 (GRCm39) C76S probably 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
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'- AGTCCACGTACATGGTCTTGG -3'
(R):5'- GGGAACTTTACACCTTTGGAAG -3'

Sequencing Primer
(F):5'- CCACGTACATGGTCTTGGATATATC -3'
(R):5'- GGAAAGGAGGTAGATGAATCTCGC -3'
Posted On 2018-04-02