Incidental Mutation 'R2114:Ckmt2'
ID 232959
Institutional Source Beutler Lab
Gene Symbol Ckmt2
Ensembl Gene ENSMUSG00000021622
Gene Name creatine kinase, mitochondrial 2
Synonyms ScCKmit, 2300008A19Rik
MMRRC Submission 040118-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R2114 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 92001510-92025001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92003964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 345 (I345F)
Ref Sequence ENSEMBL: ENSMUSP00000022122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022122]
AlphaFold Q6P8J7
Predicted Effect probably benign
Transcript: ENSMUST00000022122
AA Change: I345F

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: I345F

Pfam:ATP-gua_PtransN 58 133 3.4e-35 PFAM
Pfam:ATP-gua_Ptrans 154 401 1.3e-95 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a A G 2: 154,889,649 (GRCm39) R72G probably benign Het
Adgrb1 T A 15: 74,412,411 (GRCm39) probably null Het
Akr1b7 G A 6: 34,395,929 (GRCm39) A144T possibly damaging Het
Anapc5 C T 5: 122,926,001 (GRCm39) V685I probably benign Het
Apba3 T C 10: 81,108,946 (GRCm39) Y570H probably damaging Het
Arf5 C T 6: 28,424,783 (GRCm39) Q71* probably null Het
Arl15 C T 13: 114,104,196 (GRCm39) S111F probably damaging Het
Ash1l C T 3: 88,890,571 (GRCm39) L817F probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Blvra G T 2: 126,927,989 (GRCm39) E80* probably null Het
Bmp10 A C 6: 87,411,441 (GRCm39) E411D probably benign Het
Ccdc148 T C 2: 58,892,128 (GRCm39) E188G probably damaging Het
Ces1a A G 8: 93,766,179 (GRCm39) L145P possibly damaging Het
Chsy3 G A 18: 59,312,561 (GRCm39) V345I probably damaging Het
Col5a2 T A 1: 45,415,964 (GRCm39) E1394D probably damaging Het
Dnah6 T C 6: 73,121,018 (GRCm39) N1492S probably damaging Het
Dock3 T C 9: 106,870,743 (GRCm39) N557S probably benign Het
Edem2 G A 2: 155,544,479 (GRCm39) R424C probably damaging Het
Exoc4 T A 6: 33,324,760 (GRCm39) N351K possibly damaging Het
Eya1 A T 1: 14,340,998 (GRCm39) F163I probably damaging Het
Ezh1 A C 11: 101,099,011 (GRCm39) S290A probably benign Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fam83h A T 15: 75,874,146 (GRCm39) Y1064N probably damaging Het
Fat4 A T 3: 39,035,633 (GRCm39) H3095L probably benign Het
Fbxo38 A C 18: 62,639,711 (GRCm39) I1051S possibly damaging Het
Galnt6 G C 15: 100,612,122 (GRCm39) C173W probably damaging Het
Gcc2 T A 10: 58,105,362 (GRCm39) C99* probably null Het
Gcn1 A T 5: 115,736,884 (GRCm39) M1276L probably benign Het
Gm266 T G 12: 111,452,116 (GRCm39) Q30P possibly damaging Het
Gsdma A T 11: 98,563,838 (GRCm39) E264V probably damaging Het
Ift74 A G 4: 94,515,496 (GRCm39) T138A probably benign Het
Ikzf1 T G 11: 11,719,473 (GRCm39) H480Q probably damaging Het
Ints14 T G 9: 64,887,077 (GRCm39) L336R probably damaging Het
Irak1 G T X: 73,066,218 (GRCm39) P197Q possibly damaging Het
Kcna6 A G 6: 126,716,322 (GRCm39) V189A possibly damaging Het
Kcnh4 A G 11: 100,650,421 (GRCm39) M4T probably damaging Het
Kif4 A G X: 99,709,323 (GRCm39) S315G probably benign Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lrwd1 T A 5: 136,159,332 (GRCm39) Y431F probably damaging Het
Madd A G 2: 90,994,367 (GRCm39) V884A probably damaging Het
Maz C A 7: 126,624,677 (GRCm39) C281F probably damaging Het
Mb G T 15: 76,906,759 (GRCm39) Q9K probably benign Het
Mllt10 A G 2: 18,167,380 (GRCm39) N435S probably benign Het
Mrm3 T C 11: 76,135,347 (GRCm39) M186T possibly damaging Het
Naprt T C 15: 75,763,637 (GRCm39) Y395C probably damaging Het
Nccrp1 T A 7: 28,246,334 (GRCm39) Q76L probably benign Het
Nlgn1 T A 3: 26,187,414 (GRCm39) N157I probably damaging Het
Nmi T C 2: 51,838,719 (GRCm39) T272A probably benign Het
Obscn C T 11: 59,022,484 (GRCm39) V754M probably damaging Het
Pcdhb12 A G 18: 37,569,265 (GRCm39) E137G probably damaging Het
Pdk2 A G 11: 94,918,088 (GRCm39) Y382H probably damaging Het
Phka1 C T X: 101,653,807 (GRCm39) R290H probably damaging Het
Pick1 T A 15: 79,139,781 (GRCm39) probably benign Het
Pik3r2 T C 8: 71,222,029 (GRCm39) I585V probably benign Het
Pitrm1 A T 13: 6,607,809 (GRCm39) Y268F probably damaging Het
Polr2b G A 5: 77,468,817 (GRCm39) E198K probably damaging Het
Prelid3b T C 2: 174,311,243 (GRCm39) N9D probably damaging Het
Prex2 T A 1: 11,256,937 (GRCm39) N1216K probably damaging Het
Prkab2 A T 3: 97,574,711 (GRCm39) M236L possibly damaging Het
Prkar2b T A 12: 32,017,279 (GRCm39) N257I probably damaging Het
Prkcd A G 14: 30,327,808 (GRCm39) C208R probably damaging Het
Prkch T A 12: 73,749,290 (GRCm39) S347T probably benign Het
Prr12 A G 7: 44,695,506 (GRCm39) V1320A unknown Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpra G T 2: 130,381,655 (GRCm39) R372L probably damaging Het
Ptx3 T A 3: 66,132,187 (GRCm39) I236N probably damaging Het
Ralgapa1 T C 12: 55,833,134 (GRCm39) probably null Het
Rgr T A 14: 36,760,809 (GRCm39) probably null Het
Rgs7 T A 1: 174,918,639 (GRCm39) N235I probably damaging Het
Rgsl1 T A 1: 153,693,295 (GRCm39) M629L probably benign Het
Rpgrip1 A T 14: 52,387,024 (GRCm39) E781V probably benign Het
Rrh T C 3: 129,604,336 (GRCm39) I288M probably damaging Het
Rtf1 T A 2: 119,535,999 (GRCm39) H184Q probably benign Het
Rusc1 T C 3: 88,999,014 (GRCm39) D256G probably benign Het
Scap T C 9: 110,210,341 (GRCm39) Y917H probably damaging Het
Scn9a T C 2: 66,314,396 (GRCm39) E1774G probably damaging Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Slc24a2 C T 4: 86,909,592 (GRCm39) V664I probably benign Het
Stim2 A G 5: 54,261,819 (GRCm39) Q237R probably damaging Het
Synpo2 T A 3: 122,873,537 (GRCm39) H1143L probably benign Het
Syt4 A G 18: 31,573,520 (GRCm39) Y332H probably damaging Het
Tcf23 G A 5: 31,130,919 (GRCm39) D186N probably benign Het
Tcf3 C A 10: 80,246,040 (GRCm39) G628W probably damaging Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Tlr5 T C 1: 182,803,194 (GRCm39) W833R probably damaging Het
Tmem132b A G 5: 125,699,615 (GRCm39) E92G probably damaging Het
Ttn A T 2: 76,577,352 (GRCm39) S24514T probably damaging Het
Txndc16 T C 14: 45,382,484 (GRCm39) E587G probably benign Het
Ubr4 A T 4: 139,156,922 (GRCm39) K2316* probably null Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Vat1 A T 11: 101,356,568 (GRCm39) V131E probably damaging Het
Vgll1 A C X: 56,137,790 (GRCm39) K53T probably damaging Het
Zfp1005 T A 2: 150,109,819 (GRCm39) C170S unknown Het
Zfp592 G A 7: 80,674,544 (GRCm39) V503M probably damaging Het
Zfp786 A G 6: 47,803,931 (GRCm39) V37A probably damaging Het
Zscan30 A G 18: 24,104,173 (GRCm39) noncoding transcript Het
Other mutations in Ckmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Ckmt2 APN 13 92,011,382 (GRCm39) missense probably damaging 1.00
IGL01359:Ckmt2 APN 13 92,009,939 (GRCm39) missense probably damaging 1.00
IGL02138:Ckmt2 APN 13 92,009,947 (GRCm39) missense probably benign 0.44
IGL02372:Ckmt2 APN 13 92,013,343 (GRCm39) missense probably benign 0.02
IGL02415:Ckmt2 APN 13 92,011,459 (GRCm39) splice site probably benign
IGL02714:Ckmt2 APN 13 92,006,427 (GRCm39) missense possibly damaging 0.64
IGL02866:Ckmt2 APN 13 92,006,400 (GRCm39) nonsense probably null
R0329:Ckmt2 UTSW 13 92,011,322 (GRCm39) missense possibly damaging 0.93
R0330:Ckmt2 UTSW 13 92,011,322 (GRCm39) missense possibly damaging 0.93
R0593:Ckmt2 UTSW 13 92,001,757 (GRCm39) missense probably damaging 0.99
R1438:Ckmt2 UTSW 13 92,007,971 (GRCm39) splice site probably benign
R1529:Ckmt2 UTSW 13 92,009,320 (GRCm39) missense probably benign
R1616:Ckmt2 UTSW 13 92,007,328 (GRCm39) missense probably benign 0.16
R2117:Ckmt2 UTSW 13 92,003,964 (GRCm39) missense probably benign 0.05
R4300:Ckmt2 UTSW 13 92,011,457 (GRCm39) critical splice acceptor site probably null
R5038:Ckmt2 UTSW 13 92,009,282 (GRCm39) missense probably benign 0.01
R5322:Ckmt2 UTSW 13 92,009,891 (GRCm39) missense possibly damaging 0.59
R7539:Ckmt2 UTSW 13 92,008,063 (GRCm39) missense probably damaging 1.00
R8039:Ckmt2 UTSW 13 92,011,431 (GRCm39) missense possibly damaging 0.94
R8189:Ckmt2 UTSW 13 92,003,894 (GRCm39) missense probably damaging 0.99
R8258:Ckmt2 UTSW 13 92,007,335 (GRCm39) missense probably damaging 1.00
R8259:Ckmt2 UTSW 13 92,007,335 (GRCm39) missense probably damaging 1.00
R9127:Ckmt2 UTSW 13 92,007,337 (GRCm39) missense probably damaging 1.00
R9231:Ckmt2 UTSW 13 92,011,311 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-18