Incidental Mutation 'IGL02372:Ckmt2'
ID290973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckmt2
Ensembl Gene ENSMUSG00000021622
Gene Namecreatine kinase, mitochondrial 2
SynonymsScCKmit, 2300008A19Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.416) question?
Stock #IGL02372
Quality Score
Status
Chromosome13
Chromosomal Location91853387-91876885 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91865224 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 37 (V37A)
Ref Sequence ENSEMBL: ENSMUSP00000022122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022122]
Predicted Effect probably benign
Transcript: ENSMUST00000022122
AA Change: V37A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: V37A

DomainStartEndE-ValueType
Pfam:ATP-gua_PtransN 58 133 3.4e-35 PFAM
Pfam:ATP-gua_Ptrans 154 401 1.3e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189130
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The hearts of mice homozygous for disruptions of this gene have hypertrophic and dilated left ventricles exhibit functional abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A T 11: 97,775,699 Y54N probably damaging Het
Alyref A G 11: 120,594,875 probably benign Het
Ankrd27 A G 7: 35,633,036 probably null Het
Arc A G 15: 74,672,105 S90P probably damaging Het
Atp6v1e1 T A 6: 120,801,123 K150N probably benign Het
Atrn T C 2: 131,002,754 probably benign Het
Ccnb1 A G 13: 100,781,316 Y259H probably damaging Het
Celsr1 A G 15: 85,929,907 V1938A probably benign Het
Dpys G T 15: 39,793,271 P467T probably benign Het
Ehbp1l1 T C 19: 5,710,834 T1535A possibly damaging Het
Eif4enif1 T C 11: 3,229,986 L302P probably benign Het
Faf1 T G 4: 109,935,582 F584V probably benign Het
Glb1l2 G A 9: 26,796,476 R72C probably damaging Het
Gm9892 T C 8: 52,196,836 noncoding transcript Het
Hecw1 G T 13: 14,264,121 D892E probably damaging Het
Hr A G 14: 70,558,350 E474G possibly damaging Het
Ltbp1 T G 17: 75,252,406 F297V probably damaging Het
Myc A G 15: 61,987,858 N127D probably damaging Het
Nbn T A 4: 15,986,613 N671K probably benign Het
Nup210l C A 3: 90,201,971 T1607N possibly damaging Het
Olfr281 A T 15: 98,456,828 T173S probably damaging Het
Osbpl1a T A 18: 12,841,313 K22* probably null Het
Phf20l1 T C 15: 66,641,801 L942P probably damaging Het
Plekhg5 C T 4: 152,102,080 R40W probably damaging Het
Pomt2 C T 12: 87,122,835 probably benign Het
Rab3gap1 A G 1: 127,919,561 probably benign Het
Sbk1 T C 7: 126,291,058 L81P probably damaging Het
Scrib G A 15: 76,048,255 P1524S probably damaging Het
Smpdl3a T A 10: 57,807,515 N240K probably benign Het
Smyd4 A T 11: 75,390,285 K195* probably null Het
Tulp3 A T 6: 128,327,598 M231K possibly damaging Het
Zfp87 A G 13: 67,520,620 probably benign Het
Other mutations in Ckmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Ckmt2 APN 13 91863263 missense probably damaging 1.00
IGL01359:Ckmt2 APN 13 91861820 missense probably damaging 1.00
IGL02138:Ckmt2 APN 13 91861828 missense probably benign 0.44
IGL02415:Ckmt2 APN 13 91863340 splice site probably benign
IGL02714:Ckmt2 APN 13 91858308 missense possibly damaging 0.64
IGL02866:Ckmt2 APN 13 91858281 nonsense probably null
R0329:Ckmt2 UTSW 13 91863203 missense possibly damaging 0.93
R0330:Ckmt2 UTSW 13 91863203 missense possibly damaging 0.93
R0593:Ckmt2 UTSW 13 91853638 missense probably damaging 0.99
R1438:Ckmt2 UTSW 13 91859852 splice site probably benign
R1529:Ckmt2 UTSW 13 91861201 missense probably benign
R1616:Ckmt2 UTSW 13 91859209 missense probably benign 0.16
R2114:Ckmt2 UTSW 13 91855845 missense probably benign 0.05
R2117:Ckmt2 UTSW 13 91855845 missense probably benign 0.05
R4300:Ckmt2 UTSW 13 91863338 critical splice acceptor site probably null
R5038:Ckmt2 UTSW 13 91861163 missense probably benign 0.01
R5322:Ckmt2 UTSW 13 91861772 missense possibly damaging 0.59
R7539:Ckmt2 UTSW 13 91859944 missense probably damaging 1.00
R8039:Ckmt2 UTSW 13 91863312 missense possibly damaging 0.94
R8189:Ckmt2 UTSW 13 91855775 missense probably damaging 0.99
R8258:Ckmt2 UTSW 13 91859216 missense probably damaging 1.00
R8259:Ckmt2 UTSW 13 91859216 missense probably damaging 1.00
Posted On2015-04-16