Incidental Mutation 'R5322:Ckmt2'
ID 404922
Institutional Source Beutler Lab
Gene Symbol Ckmt2
Ensembl Gene ENSMUSG00000021622
Gene Name creatine kinase, mitochondrial 2
Synonyms ScCKmit, 2300008A19Rik
MMRRC Submission 042905-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R5322 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 92001510-92025001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 92009891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 143 (T143K)
Ref Sequence ENSEMBL: ENSMUSP00000022122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022122]
AlphaFold Q6P8J7
Predicted Effect possibly damaging
Transcript: ENSMUST00000022122
AA Change: T143K

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: T143K

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C T 5: 89,855,159 (GRCm39) probably null Het
Ankar T C 1: 72,729,545 (GRCm39) probably null Het
Ankrd60 T A 2: 173,410,610 (GRCm39) K303N possibly damaging Het
Appbp2 A G 11: 85,086,890 (GRCm39) probably null Het
Arvcf T C 16: 18,215,508 (GRCm39) M176T probably benign Het
Cachd1 T C 4: 100,809,319 (GRCm39) I268T probably damaging Het
Ccdc66 A G 14: 27,204,484 (GRCm39) S933P probably damaging Het
Cfi C T 3: 129,666,689 (GRCm39) P471S probably damaging Het
Cnksr3 A T 10: 7,085,078 (GRCm39) D15E probably damaging Het
Copb2 A T 9: 98,468,029 (GRCm39) K680N probably benign Het
D2hgdh T C 1: 93,757,620 (GRCm39) probably null Het
Dcn A T 10: 97,353,464 (GRCm39) T338S probably benign Het
Dipk2a A G 9: 94,402,615 (GRCm39) I349T probably benign Het
Dnah10 G A 5: 124,850,630 (GRCm39) G1644D probably damaging Het
Dnah5 A G 15: 28,384,390 (GRCm39) I3045V probably benign Het
Dock3 G A 9: 106,779,028 (GRCm39) T307I probably benign Het
Dock5 A T 14: 68,007,715 (GRCm39) I1498N probably benign Het
Emc1 A T 4: 139,081,557 (GRCm39) N62Y probably damaging Het
Enpp6 C A 8: 47,521,950 (GRCm39) H295N probably benign Het
Epha10 A G 4: 124,779,541 (GRCm39) Y129C probably damaging Het
Fbn2 A T 18: 58,172,387 (GRCm39) D2139E probably benign Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fignl1 A T 11: 11,751,571 (GRCm39) F495I probably damaging Het
Gm43302 C T 5: 105,365,347 (GRCm39) A554T probably benign Het
Gpr157 A G 4: 150,183,309 (GRCm39) N160D probably benign Het
Il1rn G A 2: 24,238,641 (GRCm39) probably null Het
Kctd13 T A 7: 126,528,378 (GRCm39) L51Q probably damaging Het
Kndc1 T C 7: 139,516,722 (GRCm39) F1561L probably damaging Het
Mast2 A G 4: 116,190,608 (GRCm39) probably null Het
Mib1 A G 18: 10,792,975 (GRCm39) H637R probably damaging Het
Moxd1 A T 10: 24,120,151 (GRCm39) N93I possibly damaging Het
Mycbp2 T C 14: 103,423,119 (GRCm39) probably null Het
Myot T C 18: 44,487,216 (GRCm39) F351S probably benign Het
N4bp2 T A 5: 65,947,800 (GRCm39) N143K possibly damaging Het
Or10ac1 T C 6: 42,515,950 (GRCm39) D2G probably benign Het
Or2ah1 T A 2: 85,653,531 (GRCm39) I72N probably damaging Het
Or51b6b T C 7: 103,309,879 (GRCm39) I193V possibly damaging Het
Or52a20 T A 7: 103,366,319 (GRCm39) W173R probably benign Het
Or52n2 C T 7: 104,542,371 (GRCm39) V155I probably benign Het
Or8b3 A T 9: 38,314,862 (GRCm39) I228F probably damaging Het
Or8b52 T A 9: 38,576,502 (GRCm39) I213L probably benign Het
Patl1 C T 19: 11,898,223 (GRCm39) R134* probably null Het
Paxbp1 T C 16: 90,812,050 (GRCm39) I887V probably benign Het
Pi4kb G A 3: 94,901,560 (GRCm39) R436Q probably benign Het
Pla2g3 A G 11: 3,438,686 (GRCm39) E112G probably benign Het
Ppp2r2a A G 14: 67,276,322 (GRCm39) probably null Het
Rela T A 19: 5,695,408 (GRCm39) S311R possibly damaging Het
Sidt1 T A 16: 44,101,985 (GRCm39) probably benign Het
Smco2 T C 6: 146,772,785 (GRCm39) L329P probably damaging Het
Speer4f1 A T 5: 17,682,347 (GRCm39) I77F possibly damaging Het
Tex14 A G 11: 87,402,298 (GRCm39) I462V probably benign Het
Tmem260 C T 14: 48,724,306 (GRCm39) R385W probably damaging Het
Trrap T C 5: 144,781,034 (GRCm39) V2974A probably damaging Het
Usp47 C T 7: 111,652,476 (GRCm39) T31I probably damaging Het
Zc2hc1a A G 3: 7,616,481 (GRCm39) N247S probably benign Het
Zeb2 A C 2: 44,887,107 (GRCm39) M582R probably damaging 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
R2114:Ckmt2 UTSW 13 92,003,964 (GRCm39) missense probably benign 0.05
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
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
(F):5'- TTGTCCTCTAGAGATGTCTTAAAGG -3'
(R):5'- TGCATGAATTTCACAGGAAGCC -3'

Sequencing Primer
(F):5'- AGGAGCTTATTAAACTCCCCTATC -3'
(R):5'- CATCCAACCTGGCCCTCTGG -3'
Posted On 2016-07-22