Incidental Mutation 'R6024:Nkain2'
ID479095
Institutional Source Beutler Lab
Gene Symbol Nkain2
Ensembl Gene ENSMUSG00000069670
Gene NameNa+/K+ transporting ATPase interacting 2
Synonyms6330571D19Rik, Tcba1
MMRRC Submission 044196-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #R6024 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location31689310-32890462 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 31951285 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 103 (M103K)
Ref Sequence ENSEMBL: ENSMUSP00000151255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000191234] [ENSMUST00000218645] [ENSMUST00000219125]
Predicted Effect probably damaging
Transcript: ENSMUST00000191234
AA Change: M103K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140463
Gene: ENSMUSG00000069670
AA Change: M103K

DomainStartEndE-ValueType
Pfam:NKAIN 1 208 4.1e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218645
AA Change: M103K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000219125
AA Change: M103K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,476,505 F3782L probably benign Het
Akr1d1 T C 6: 37,558,482 I267T probably benign Het
Arhgef5 T C 6: 43,275,134 S940P probably benign Het
Art2b A G 7: 101,580,380 I104T probably benign Het
Avpr1a A G 10: 122,449,148 Y115C probably damaging Het
Ccdc84 T C 9: 44,417,952 T13A possibly damaging Het
Cdc42bpg T A 19: 6,317,496 L995Q probably damaging Het
Clip1 T C 5: 123,615,089 K210E possibly damaging Het
Cog4 C T 8: 110,881,480 T735I probably damaging Het
Creb3l4 G A 3: 90,238,699 S206L probably damaging Het
Csf3r C A 4: 126,037,517 probably null Het
Dnah11 G T 12: 118,030,272 S2346R probably benign Het
Dnaic2 A T 11: 114,752,908 I467F possibly damaging Het
Doxl2 A T 6: 48,976,096 K318N possibly damaging Het
Dpy19l4 A T 4: 11,276,876 M523K probably damaging Het
Ebf3 T C 7: 137,200,535 D407G probably damaging Het
Fbn2 A G 18: 58,076,836 I991T probably benign Het
Gcc1 T C 6: 28,419,300 T345A probably benign Het
Gm1527 C T 3: 28,920,603 H522Y probably benign Het
Gm340 C A 19: 41,583,957 P384T possibly damaging Het
Gm4846 T A 1: 166,490,127 Y240F probably benign Het
Hmgcl T C 4: 135,955,615 V126A probably benign Het
Ifit1bl2 G T 19: 34,620,038 S59R probably benign Het
Itga6 A G 2: 71,787,233 N32S probably benign Het
Macc1 T C 12: 119,450,425 S779P probably benign Het
Mctp1 G T 13: 76,385,161 L209F probably damaging Het
Mink1 A G 11: 70,599,089 N97S possibly damaging Het
Mst1r T A 9: 107,908,151 V336E probably benign Het
Muc16 A T 9: 18,646,671 S2775R unknown Het
Muc6 T A 7: 141,641,574 T1316S possibly damaging Het
Myh11 T A 16: 14,277,703 N65I probably damaging Het
Myo9a A G 9: 59,855,388 N801D possibly damaging Het
Nkx2-2 T A 2: 147,184,041 Y259F probably benign Het
Nrxn1 T C 17: 90,590,098 M877V possibly damaging Het
Nxf1 C T 19: 8,767,744 L453F probably damaging Het
Pcnt T C 10: 76,420,037 S790G possibly damaging Het
Phf3 T C 1: 30,863,226 D2G probably damaging Het
Phrf1 T C 7: 141,258,985 probably benign Het
Ptpn3 C A 4: 57,248,653 probably null Het
Pygl T C 12: 70,197,067 T625A probably benign Het
R3hdm2 T A 10: 127,459,480 F239I probably damaging Het
Sesn1 A T 10: 41,896,200 I242F probably damaging Het
Shank2 C T 7: 144,180,031 T105I probably benign Het
Skint3 T C 4: 112,290,346 F350S possibly damaging Het
Slco5a1 T C 1: 12,944,070 Y320C probably damaging Het
Syt11 A G 3: 88,762,109 S159P probably benign Het
Tanc2 G A 11: 105,867,717 R768Q probably damaging Het
Tanc2 T C 11: 105,923,672 S1981P probably damaging Het
Tmem200c A C 17: 68,841,727 D435A possibly damaging Het
Trappc8 A G 18: 20,833,009 V1125A probably damaging Het
Ttn A G 2: 76,814,143 V4762A possibly damaging Het
Unc5d A G 8: 28,875,511 S149P possibly damaging Het
Usf3 A T 16: 44,219,840 N1561I probably damaging Het
Wdr4 A T 17: 31,501,298 probably benign Het
Wdr49 T G 3: 75,301,826 E612D probably benign Het
Other mutations in Nkain2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Nkain2 APN 10 32402241 missense probably damaging 1.00
IGL02937:Nkain2 APN 10 32329844 missense probably damaging 1.00
R1395:Nkain2 UTSW 10 32890189 unclassified probably benign
R1876:Nkain2 UTSW 10 32890439 unclassified probably benign
R1995:Nkain2 UTSW 10 32402351 missense possibly damaging 0.84
R2000:Nkain2 UTSW 10 32890285 unclassified probably benign
R2101:Nkain2 UTSW 10 32329817 missense possibly damaging 0.74
R5514:Nkain2 UTSW 10 31951193 missense probably damaging 1.00
R5801:Nkain2 UTSW 10 32402268 missense probably damaging 0.99
R7329:Nkain2 UTSW 10 32889896 makesense probably null
Predicted Primers PCR Primer
(F):5'- TTTGCACACAGTGTTTGCCC -3'
(R):5'- ATTACTTAAGCAGTTAAGCGCC -3'

Sequencing Primer
(F):5'- GTTGTCAACACTTACTGCGAGGAC -3'
(R):5'- GTTAAGCGCCTATAACATACACTAGG -3'
Posted On2017-06-26