Incidental Mutation 'R4936:Slc8a2'
ID 380376
Institutional Source Beutler Lab
Gene Symbol Slc8a2
Ensembl Gene ENSMUSG00000030376
Gene Name solute carrier family 8 (sodium/calcium exchanger), member 2
Synonyms Ncx2
MMRRC Submission 042536-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R4936 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 15863751-15894988 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 15868100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 111 (K111*)
Ref Sequence ENSEMBL: ENSMUSP00000147497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168693] [ENSMUST00000211649]
AlphaFold Q8K596
Predicted Effect probably null
Transcript: ENSMUST00000168693
AA Change: K111*
SMART Domains Protein: ENSMUSP00000128926
Gene: ENSMUSG00000030376
AA Change: K111*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 23 32 N/A INTRINSIC
Pfam:Na_Ca_ex 74 245 8.6e-35 PFAM
Pfam:Na_Ca_ex_C 248 378 7.8e-50 PFAM
Calx_beta 383 483 3.27e-47 SMART
Calx_beta 512 612 3.37e-49 SMART
low complexity region 704 717 N/A INTRINSIC
Pfam:Na_Ca_ex 747 912 2.5e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000211649
AA Change: K111*
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: The clearance of elevated calcium following depolarization is delayed in homozygous mutant mice, which exhibit enhanced learning and memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,879,212 (GRCm39) F183L possibly damaging Het
4930590J08Rik T A 6: 91,921,245 (GRCm39) M775K probably damaging Het
Actn1 T G 12: 80,219,772 (GRCm39) I700L probably benign Het
Adam5 T C 8: 25,276,287 (GRCm39) Y460C probably damaging Het
Akna C T 4: 63,313,502 (GRCm39) G207E probably damaging Het
Ank2 T A 3: 126,748,688 (GRCm39) H527L possibly damaging Het
Anks1 C A 17: 28,207,779 (GRCm39) N383K probably damaging Het
Apba3 C T 10: 81,105,204 (GRCm39) probably null Het
Atp9b C A 18: 80,779,308 (GRCm39) V1121F possibly damaging Het
Bsn T C 9: 107,988,960 (GRCm39) Y2264C probably damaging Het
Bst1 A G 5: 43,997,799 (GRCm39) D266G probably damaging Het
Cep55 A G 19: 38,060,202 (GRCm39) probably null Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Ckb T C 12: 111,637,664 (GRCm39) K156E probably benign Het
Cln3 T A 7: 126,174,393 (GRCm39) H315L probably damaging Het
Cnot6l A G 5: 96,227,796 (GRCm39) F479S probably damaging Het
Col1a1 A G 11: 94,837,958 (GRCm39) D826G unknown Het
Cyp27a1 T C 1: 74,774,564 (GRCm39) V194A probably benign Het
Dis3l2 C T 1: 86,971,890 (GRCm39) P643S probably benign Het
Dpf3 T C 12: 83,378,740 (GRCm39) D108G probably damaging Het
Eif2b4 C T 5: 31,350,241 (GRCm39) G27D probably benign Het
Eif4a1 T G 11: 69,563,251 (GRCm39) probably benign Het
Espl1 A T 15: 102,213,372 (GRCm39) D566V probably damaging Het
Ext2 T A 2: 93,644,024 (GRCm39) R86* probably null Het
Fasn A T 11: 120,706,911 (GRCm39) F914I probably damaging Het
Fbf1 A G 11: 116,043,378 (GRCm39) L477P probably benign Het
Fsd1 A T 17: 56,303,452 (GRCm39) K441N possibly damaging Het
Fsip2 T A 2: 82,815,384 (GRCm39) S3706T probably benign Het
Gabra5 A T 7: 57,058,547 (GRCm39) N400K probably benign Het
Gimap8 G T 6: 48,633,068 (GRCm39) G296W probably damaging Het
Gli2 A G 1: 118,763,870 (GRCm39) V1427A probably benign Het
Gm7334 A T 17: 51,005,855 (GRCm39) Y47F probably damaging Het
Gm8674 T G 13: 50,054,791 (GRCm39) noncoding transcript Het
Gmeb2 G T 2: 180,896,039 (GRCm39) T377K probably benign Het
Gp9 T A 6: 87,756,229 (GRCm39) D81E probably benign Het
Il5ra T A 6: 106,715,123 (GRCm39) I212F possibly damaging Het
Klhl18 G T 9: 110,258,029 (GRCm39) N470K possibly damaging Het
Lfng G T 5: 140,598,150 (GRCm39) probably null Het
Lpo A G 11: 87,701,166 (GRCm39) I430T probably benign Het
Lrrc31 C T 3: 30,743,417 (GRCm39) D183N probably damaging Het
Meis2 T C 2: 115,694,893 (GRCm39) T410A probably benign Het
Myo6 A G 9: 80,214,963 (GRCm39) D1232G probably damaging Het
Ncapd2 C T 6: 125,146,803 (GRCm39) R1261H probably benign Het
Nfkb1 C T 3: 135,319,743 (GRCm39) V251M probably damaging Het
Nmbr C A 10: 14,642,730 (GRCm39) H96Q probably damaging Het
Nop14 C T 5: 34,809,737 (GRCm39) R256H probably damaging Het
Nqo2 T A 13: 34,165,501 (GRCm39) Y133N probably damaging Het
Or1f12 T C 13: 21,721,357 (GRCm39) I273V probably benign Het
Or5w20 A G 2: 87,727,157 (GRCm39) I213V probably benign Het
Pbld2 C A 10: 62,888,017 (GRCm39) S168R probably damaging Het
Pcdhb7 G T 18: 37,475,202 (GRCm39) G113* probably null Het
Pcdhb7 G T 18: 37,475,203 (GRCm39) G113V probably damaging Het
Pdgfra A T 5: 75,355,687 (GRCm39) T1066S probably damaging Het
Prdm8 A T 5: 98,332,881 (GRCm39) probably null Het
Prdm8 G T 5: 98,332,882 (GRCm39) probably null Het
Prkg1 T C 19: 30,563,775 (GRCm39) Y479C probably benign Het
Pudp T C 18: 50,701,539 (GRCm39) T65A probably benign Het
Rbbp6 C T 7: 122,598,926 (GRCm39) probably benign Het
Rcc1 C G 4: 132,063,046 (GRCm39) V187L probably damaging Het
Rims2 T A 15: 39,301,124 (GRCm39) M285K probably damaging Het
Rtkn2 T C 10: 67,877,745 (GRCm39) *602Q probably null Het
Rxfp3 T G 15: 11,036,866 (GRCm39) S169R probably damaging Het
Sardh T C 2: 27,118,253 (GRCm39) probably null Het
Slc24a2 A T 4: 87,145,584 (GRCm39) F157I probably damaging Het
Slc25a20 T C 9: 108,559,191 (GRCm39) Y186H probably damaging Het
Slc25a24 A G 3: 109,070,864 (GRCm39) R408G probably damaging Het
Slc44a5 T G 3: 153,959,353 (GRCm39) I348S probably damaging Het
Smc5 A G 19: 23,211,367 (GRCm39) V589A probably damaging Het
Thbd A T 2: 148,249,655 (GRCm39) I71N probably damaging Het
Thsd7b T C 1: 129,605,882 (GRCm39) M541T probably benign Het
Tie1 T A 4: 118,341,968 (GRCm39) silent Het
Tln1 A G 4: 43,547,522 (GRCm39) F813S possibly damaging Het
Tnrc18 A T 5: 142,751,732 (GRCm39) L1191* probably null Het
Tubb2a A C 13: 34,259,240 (GRCm39) Y183* probably null Het
Ubr4 T A 4: 139,123,877 (GRCm39) V343E probably damaging Het
Vmn2r93 A T 17: 18,524,327 (GRCm39) D107V possibly damaging Het
Vwa5a T G 9: 38,647,494 (GRCm39) S624R probably benign Het
Wwox G A 8: 115,433,098 (GRCm39) V255I probably benign Het
Wwp1 T C 4: 19,638,804 (GRCm39) K546E probably damaging Het
Xirp2 T A 2: 67,340,163 (GRCm39) F801L possibly damaging Het
Zfp407 T C 18: 84,577,589 (GRCm39) I1175V probably benign Het
Zfp646 T A 7: 127,480,933 (GRCm39) C1037S possibly damaging Het
Zfp786 A T 6: 47,798,202 (GRCm39) C245* probably null Het
Zfp827 T C 8: 79,787,812 (GRCm39) V326A probably benign Het
Other mutations in Slc8a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Slc8a2 APN 7 15,892,818 (GRCm39) missense probably damaging 1.00
IGL02097:Slc8a2 APN 7 15,891,081 (GRCm39) missense possibly damaging 0.88
IGL02744:Slc8a2 APN 7 15,878,954 (GRCm39) missense possibly damaging 0.91
PIT4402001:Slc8a2 UTSW 7 15,868,419 (GRCm39) missense probably damaging 1.00
PIT4515001:Slc8a2 UTSW 7 15,874,504 (GRCm39) missense possibly damaging 0.69
R0281:Slc8a2 UTSW 7 15,874,914 (GRCm39) missense probably benign
R0513:Slc8a2 UTSW 7 15,891,264 (GRCm39) missense probably damaging 1.00
R0811:Slc8a2 UTSW 7 15,875,039 (GRCm39) missense probably damaging 1.00
R0812:Slc8a2 UTSW 7 15,875,039 (GRCm39) missense probably damaging 1.00
R0940:Slc8a2 UTSW 7 15,878,887 (GRCm39) missense probably benign 0.04
R1167:Slc8a2 UTSW 7 15,891,312 (GRCm39) missense possibly damaging 0.58
R1508:Slc8a2 UTSW 7 15,874,522 (GRCm39) missense probably benign 0.00
R1655:Slc8a2 UTSW 7 15,875,060 (GRCm39) missense probably damaging 1.00
R1917:Slc8a2 UTSW 7 15,886,845 (GRCm39) missense probably benign 0.11
R1919:Slc8a2 UTSW 7 15,886,845 (GRCm39) missense probably benign 0.11
R2051:Slc8a2 UTSW 7 15,874,940 (GRCm39) missense probably damaging 1.00
R2083:Slc8a2 UTSW 7 15,868,440 (GRCm39) missense probably damaging 1.00
R2128:Slc8a2 UTSW 7 15,874,417 (GRCm39) splice site probably null
R2149:Slc8a2 UTSW 7 15,893,089 (GRCm39) missense probably damaging 1.00
R3437:Slc8a2 UTSW 7 15,892,810 (GRCm39) missense probably damaging 1.00
R3618:Slc8a2 UTSW 7 15,886,824 (GRCm39) missense possibly damaging 0.48
R4645:Slc8a2 UTSW 7 15,868,164 (GRCm39) missense probably damaging 1.00
R4741:Slc8a2 UTSW 7 15,868,233 (GRCm39) missense probably damaging 1.00
R5071:Slc8a2 UTSW 7 15,884,508 (GRCm39) missense possibly damaging 0.84
R5072:Slc8a2 UTSW 7 15,884,508 (GRCm39) missense possibly damaging 0.84
R5074:Slc8a2 UTSW 7 15,884,508 (GRCm39) missense possibly damaging 0.84
R5150:Slc8a2 UTSW 7 15,879,101 (GRCm39) missense possibly damaging 0.74
R5358:Slc8a2 UTSW 7 15,891,228 (GRCm39) missense probably damaging 1.00
R5839:Slc8a2 UTSW 7 15,868,412 (GRCm39) missense probably damaging 1.00
R5957:Slc8a2 UTSW 7 15,879,209 (GRCm39) missense possibly damaging 0.90
R6273:Slc8a2 UTSW 7 15,879,259 (GRCm39) missense possibly damaging 0.94
R6363:Slc8a2 UTSW 7 15,867,970 (GRCm39) missense probably benign 0.00
R6881:Slc8a2 UTSW 7 15,891,282 (GRCm39) missense probably damaging 1.00
R7084:Slc8a2 UTSW 7 15,878,963 (GRCm39) missense probably benign 0.17
R7211:Slc8a2 UTSW 7 15,874,538 (GRCm39) missense possibly damaging 0.87
R7227:Slc8a2 UTSW 7 15,878,906 (GRCm39) missense possibly damaging 0.73
R7278:Slc8a2 UTSW 7 15,875,077 (GRCm39) missense probably damaging 1.00
R7380:Slc8a2 UTSW 7 15,868,278 (GRCm39) missense probably damaging 1.00
R8239:Slc8a2 UTSW 7 15,879,230 (GRCm39) missense probably benign 0.00
R8698:Slc8a2 UTSW 7 15,891,132 (GRCm39) missense probably damaging 1.00
R8926:Slc8a2 UTSW 7 15,868,194 (GRCm39) missense probably damaging 1.00
R9249:Slc8a2 UTSW 7 15,891,156 (GRCm39) missense probably damaging 1.00
R9483:Slc8a2 UTSW 7 15,886,780 (GRCm39) missense possibly damaging 0.95
R9530:Slc8a2 UTSW 7 15,879,269 (GRCm39) missense probably null 0.86
R9778:Slc8a2 UTSW 7 15,887,124 (GRCm39) missense probably damaging 1.00
Z1177:Slc8a2 UTSW 7 15,874,912 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AAGGCTGCCAAGGTTCCTAC -3'
(R):5'- TGACCACAAACATGTTGAAGGC -3'

Sequencing Primer
(F):5'- AACCAGGTGTGCTGCTG -3'
(R):5'- CATGTTGAAGGCGGCACTG -3'
Posted On 2016-04-15