Incidental Mutation 'R9634:Nkain2'
ID 725717
Institutional Source Beutler Lab
Gene Symbol Nkain2
Ensembl Gene ENSMUSG00000069670
Gene Name Na+/K+ transporting ATPase interacting 2
Synonyms Tcba1, 6330571D19Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R9634 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 31565306-32766458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32766262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 66 (P66L)
Ref Sequence ENSEMBL: ENSMUSP00000090264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092602] [ENSMUST00000191234] [ENSMUST00000218645] [ENSMUST00000219125]
AlphaFold Q4PNJ2
Predicted Effect unknown
Transcript: ENSMUST00000092602
AA Change: P66L
SMART Domains Protein: ENSMUSP00000090264
Gene: ENSMUSG00000069670
AA Change: P66L

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
low complexity region 87 112 N/A INTRINSIC
low complexity region 125 159 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191234
SMART Domains Protein: ENSMUSP00000140463
Gene: ENSMUSG00000069670

DomainStartEndE-ValueType
Pfam:NKAIN 1 208 4.1e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218645
Predicted Effect probably benign
Transcript: ENSMUST00000219125
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C A 11: 84,184,816 (GRCm39) D1277E probably benign Het
Anapc7 T C 5: 122,560,689 (GRCm39) S17P probably damaging Het
Atad2b T C 12: 5,060,332 (GRCm39) F909S probably damaging Het
Ccnb1 G A 13: 100,920,112 (GRCm39) A133V probably benign Het
Chd7 A G 4: 8,832,499 (GRCm39) T1125A probably damaging Het
Cyc1 A G 15: 76,227,794 (GRCm39) T11A probably benign Het
Ddx59 G A 1: 136,347,214 (GRCm39) A291T probably damaging Het
Dgkg T A 16: 22,338,387 (GRCm39) probably null Het
Dock8 A G 19: 25,169,585 (GRCm39) D1952G probably damaging Het
Dpf3 A G 12: 83,378,635 (GRCm39) probably null Het
Evi5 T C 5: 107,964,663 (GRCm39) I340V probably benign Het
Extl3 A T 14: 65,314,919 (GRCm39) S88T probably damaging Het
Fktn A G 4: 53,761,230 (GRCm39) H410R probably benign Het
Fyb2 A T 4: 104,856,579 (GRCm39) K596* probably null Het
Gas2l3 C T 10: 89,249,943 (GRCm39) A392T probably benign Het
Gbp7 T A 3: 142,242,115 (GRCm39) V83E probably benign Het
Gja10 A G 4: 32,601,877 (GRCm39) V169A probably damaging Het
Gnao1 A G 8: 94,682,723 (GRCm39) H303R probably benign Het
Iars2 A G 1: 185,027,727 (GRCm39) *734R probably null Het
Il2ra C T 2: 11,685,227 (GRCm39) R188* probably null Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Ints3 T C 3: 90,318,606 (GRCm39) T210A Het
Itpkc A G 7: 26,913,880 (GRCm39) I527T probably benign Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Loxl3 C T 6: 83,027,835 (GRCm39) T749I probably benign Het
Lrp1b C T 2: 41,135,951 (GRCm39) probably null Het
Ncapg2 T A 12: 116,379,077 (GRCm39) H190Q probably damaging Het
Nubpl T C 12: 52,349,494 (GRCm39) F242L probably benign Het
Or4f4-ps1 T C 2: 111,330,131 (GRCm39) V178A possibly damaging Het
Or4x11 T C 2: 89,867,907 (GRCm39) S215P probably damaging Het
Or8b51 A G 9: 38,568,869 (GRCm39) I273T probably benign Het
Paip2b T C 6: 83,787,023 (GRCm39) D71G probably damaging Het
Plch1 T C 3: 63,605,152 (GRCm39) E1584G probably damaging Het
Poglut2 T C 1: 44,152,196 (GRCm39) D271G probably damaging Het
Prkag2 A G 5: 25,074,238 (GRCm39) I489T possibly damaging Het
Ptpn2 C T 18: 67,808,789 (GRCm39) probably null Het
Rims3 G A 4: 120,748,517 (GRCm39) R246H possibly damaging Het
Sorl1 T G 9: 41,907,590 (GRCm39) T1466P probably benign Het
Tbl3 T C 17: 24,926,531 (GRCm39) E3G probably benign Het
Tex2 A G 11: 106,458,978 (GRCm39) S151P unknown Het
Tmem260 C A 14: 48,709,816 (GRCm39) A123E probably damaging Het
Trim45 T C 3: 100,839,306 (GRCm39) V736A unknown Het
Vps8 T C 16: 21,372,893 (GRCm39) L1033P probably damaging Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Wwc2 GCC GCCC 8: 48,304,959 (GRCm39) probably null Het
Ythdc2 A G 18: 45,006,037 (GRCm39) T1177A probably benign Het
Zfp36l2 A G 17: 84,494,056 (GRCm39) Y194H probably damaging Het
Other mutations in Nkain2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Nkain2 APN 10 32,278,237 (GRCm39) missense probably damaging 1.00
IGL02937:Nkain2 APN 10 32,205,840 (GRCm39) missense probably damaging 1.00
R1395:Nkain2 UTSW 10 32,766,185 (GRCm39) unclassified probably benign
R1876:Nkain2 UTSW 10 32,766,435 (GRCm39) unclassified probably benign
R1995:Nkain2 UTSW 10 32,278,347 (GRCm39) missense possibly damaging 0.84
R2000:Nkain2 UTSW 10 32,766,281 (GRCm39) unclassified probably benign
R2101:Nkain2 UTSW 10 32,205,813 (GRCm39) missense possibly damaging 0.74
R5514:Nkain2 UTSW 10 31,827,189 (GRCm39) missense probably damaging 1.00
R5801:Nkain2 UTSW 10 32,278,264 (GRCm39) missense probably damaging 0.99
R6024:Nkain2 UTSW 10 31,827,281 (GRCm39) missense probably damaging 0.99
R7329:Nkain2 UTSW 10 32,765,892 (GRCm39) makesense probably null
R8069:Nkain2 UTSW 10 32,766,034 (GRCm39) missense unknown
R9461:Nkain2 UTSW 10 32,766,125 (GRCm39) missense unknown
R9598:Nkain2 UTSW 10 32,278,291 (GRCm39) missense probably damaging 1.00
Z1176:Nkain2 UTSW 10 32,278,267 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGGAAGTGACAGTGTCCTG -3'
(R):5'- GCACGTGTAATGCTTCTGGC -3'

Sequencing Primer
(F):5'- ATCTGGCCCGCCAAGTTG -3'
(R):5'- GCCTCAGCAAGACCGATAC -3'
Posted On 2022-09-12