Incidental Mutation 'R2157:Ckm'
ID 234906
Institutional Source Beutler Lab
Gene Symbol Ckm
Ensembl Gene ENSMUSG00000030399
Gene Name creatine kinase, muscle
Synonyms Ckmm, M-CK, MCK
MMRRC Submission 040160-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R2157 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 19145019-19155508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19155279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 372 (S372P)
Ref Sequence ENSEMBL: ENSMUSP00000146972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003643] [ENSMUST00000085715] [ENSMUST00000208710] [ENSMUST00000209058]
AlphaFold P07310
Predicted Effect probably benign
Transcript: ENSMUST00000003643
AA Change: S303P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003643
Gene: ENSMUSG00000030399
AA Change: S303P

DomainStartEndE-ValueType
Pfam:ATP-gua_PtransN 24 99 5.2e-38 PFAM
Pfam:ATP-gua_Ptrans 120 367 2.6e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000047020
SMART Domains Protein: ENSMUSP00000043987
Gene: ENSMUSG00000040705

DomainStartEndE-ValueType
low complexity region 7 31 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
low complexity region 86 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085715
SMART Domains Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397

DomainStartEndE-ValueType
S_TKc 59 310 1.4e-109 SMART
UBA 331 368 9.62e-8 SMART
low complexity region 391 408 N/A INTRINSIC
low complexity region 463 474 N/A INTRINSIC
low complexity region 540 553 N/A INTRINSIC
low complexity region 580 586 N/A INTRINSIC
low complexity region 672 690 N/A INTRINSIC
Pfam:KA1 709 752 1.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208685
Predicted Effect probably benign
Transcript: ENSMUST00000208710
AA Change: S372P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000209058
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in function and energy utilization of both skeletal and cardiac muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik A T 8: 125,378,168 (GRCm39) probably benign Het
4930590J08Rik T A 6: 91,919,468 (GRCm39) M709K possibly damaging Het
4930590J08Rik A G 6: 91,894,679 (GRCm39) probably null Het
A930011G23Rik T G 5: 99,379,956 (GRCm39) I394L probably damaging Het
Abca13 A C 11: 9,527,170 (GRCm39) M4528L probably damaging Het
Abcb1b G A 5: 8,874,791 (GRCm39) A484T probably benign Het
Actn1 A T 12: 80,219,891 (GRCm39) M660K probably benign Het
Adgra3 G T 5: 50,159,283 (GRCm39) N322K possibly damaging Het
Ahnak A G 19: 8,978,048 (GRCm39) I56V possibly damaging Het
Amotl2 A G 9: 102,607,788 (GRCm39) probably benign Het
Apoa1 T C 9: 46,140,471 (GRCm39) V34A probably damaging Het
Arrdc1 G A 2: 24,816,987 (GRCm39) A113V probably damaging Het
As3mt A G 19: 46,696,231 (GRCm39) D13G probably benign Het
Cald1 A G 6: 34,662,976 (GRCm39) Q13R possibly damaging Het
Ccdc28a G A 10: 18,106,203 (GRCm39) T41I probably benign Het
Ccdc30 A T 4: 119,190,921 (GRCm39) probably benign Het
Cct2 T C 10: 116,898,714 (GRCm39) probably benign Het
Cdh12 T C 15: 21,583,873 (GRCm39) I571T possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Comp C T 8: 70,832,220 (GRCm39) Q554* probably null Het
Csf2ra T C 19: 61,215,509 (GRCm39) T70A probably benign Het
Csmd3 T C 15: 47,559,183 (GRCm39) E2256G probably damaging Het
Dicer1 A T 12: 104,669,208 (GRCm39) V1158D probably benign Het
Dner A G 1: 84,361,659 (GRCm39) F650S possibly damaging Het
Dnm3 T C 1: 162,135,462 (GRCm39) N437S possibly damaging Het
Dpy19l2 T C 9: 24,592,076 (GRCm39) I176V probably benign Het
Dpy19l2 A T 9: 24,495,928 (GRCm39) C597S probably benign Het
Edf1 T C 2: 25,448,043 (GRCm39) probably null Het
Eif1ad16 A T 12: 87,985,481 (GRCm39) S21T unknown Het
Enpp3 A G 10: 24,652,776 (GRCm39) F727S probably damaging Het
Epb42 C T 2: 120,852,243 (GRCm39) M583I probably benign Het
Foxred1 A G 9: 35,116,659 (GRCm39) F117S probably damaging Het
Fstl5 T A 3: 76,615,372 (GRCm39) M811K possibly damaging Het
Gm5117 A T 8: 32,228,222 (GRCm39) noncoding transcript Het
Gpm6a T C 8: 55,511,833 (GRCm39) S236P probably damaging Het
Grik1 G A 16: 87,853,012 (GRCm39) A57V probably damaging Het
Hdgfl2 G A 17: 56,405,691 (GRCm39) V476I possibly damaging Het
Il17b G T 18: 61,823,439 (GRCm39) W91L probably damaging Het
Jph4 C A 14: 55,350,984 (GRCm39) R344L probably benign Het
Map3k21 A G 8: 126,664,005 (GRCm39) D522G probably benign Het
Mast2 A G 4: 116,179,480 (GRCm39) L398S probably damaging Het
Mbtd1 A G 11: 93,801,214 (GRCm39) T132A probably benign Het
Mbtps1 G T 8: 120,269,466 (GRCm39) T208K probably benign Het
Mr1 A G 1: 155,022,376 (GRCm39) probably null Het
Mthfsd G A 8: 121,828,240 (GRCm39) L140F probably damaging Het
Mybpc2 C G 7: 44,159,269 (GRCm39) D594H possibly damaging Het
Nalcn T C 14: 123,647,164 (GRCm39) M570V probably benign Het
Ncam2 T C 16: 81,287,277 (GRCm39) I397T probably damaging Het
Ndufs4 C T 13: 114,453,514 (GRCm39) V75I probably damaging Het
Nek4 T A 14: 30,701,925 (GRCm39) probably null Het
Nfatc1 G T 18: 80,679,060 (GRCm39) A762D possibly damaging Het
Nhsl3 C T 4: 129,117,917 (GRCm39) R249H possibly damaging Het
Npc1 A G 18: 12,324,866 (GRCm39) I1209T probably damaging Het
Or10k2 T C 8: 84,268,250 (GRCm39) I159T probably benign Het
Or4c11 A T 2: 88,695,213 (GRCm39) N88I probably benign Het
Pak5 T C 2: 135,942,877 (GRCm39) D421G probably damaging Het
Pias1 A G 9: 62,820,112 (GRCm39) V285A possibly damaging Het
Pigg T A 5: 108,466,755 (GRCm39) I212N probably damaging Het
Plcd3 A T 11: 102,961,974 (GRCm39) C711S probably benign Het
Plscr5 G A 9: 92,080,550 (GRCm39) R12K probably benign Het
Plxna4 T C 6: 32,493,909 (GRCm39) I236V probably benign Het
Ppp1r26 T C 2: 28,342,370 (GRCm39) F667L probably benign Het
Prkx A G X: 76,814,920 (GRCm39) F247L probably benign Het
Qpct G A 17: 79,378,115 (GRCm39) R95Q probably benign Het
Ralgapb G T 2: 158,279,392 (GRCm39) M159I probably benign Het
Rnf145 T C 11: 44,445,997 (GRCm39) L277P probably damaging Het
Scn9a A G 2: 66,366,669 (GRCm39) S705P probably damaging Het
Slc4a8 A G 15: 100,704,254 (GRCm39) T750A probably damaging Het
Slc66a1 A T 4: 139,029,166 (GRCm39) V106D probably damaging Het
Syne2 A G 12: 76,141,230 (GRCm39) E6114G probably damaging Het
Tat T C 8: 110,724,236 (GRCm39) M375T probably damaging Het
Tex10 C T 4: 48,436,522 (GRCm39) probably benign Het
Tmprss11e T C 5: 86,861,587 (GRCm39) K320E probably benign Het
Tnr T C 1: 159,685,840 (GRCm39) I357T probably damaging Het
Vmn1r229 A T 17: 21,035,638 (GRCm39) R294S possibly damaging Het
Vmn2r116 G A 17: 23,620,443 (GRCm39) D726N probably damaging Het
Vpreb1b T A 16: 17,798,934 (GRCm39) L140* probably null Het
Wfs1 G A 5: 37,125,286 (GRCm39) P535L probably damaging Het
Xdh A G 17: 74,229,532 (GRCm39) L307P probably damaging Het
Zfp160 A G 17: 21,241,090 (GRCm39) S53G probably benign Het
Zfp319 A G 8: 96,054,659 (GRCm39) C515R probably damaging Het
Zfp747 A G 7: 126,974,929 (GRCm39) F24L possibly damaging Het
Zzef1 A T 11: 72,739,460 (GRCm39) probably benign Het
Other mutations in Ckm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Ckm APN 7 19,150,712 (GRCm39) nonsense probably null
IGL01486:Ckm APN 7 19,155,156 (GRCm39) missense probably damaging 1.00
IGL03303:Ckm APN 7 19,148,263 (GRCm39) splice site probably benign
R0382:Ckm UTSW 7 19,155,309 (GRCm39) makesense probably null
R0505:Ckm UTSW 7 19,153,377 (GRCm39) nonsense probably null
R2042:Ckm UTSW 7 19,148,082 (GRCm39) missense possibly damaging 0.49
R4257:Ckm UTSW 7 19,155,279 (GRCm39) missense probably benign 0.00
R4515:Ckm UTSW 7 19,154,209 (GRCm39) missense probably damaging 1.00
R4663:Ckm UTSW 7 19,153,419 (GRCm39) missense probably damaging 1.00
R5327:Ckm UTSW 7 19,154,090 (GRCm39) missense probably damaging 1.00
R5788:Ckm UTSW 7 19,153,372 (GRCm39) missense probably benign 0.08
R6995:Ckm UTSW 7 19,154,156 (GRCm39) missense probably benign 0.03
R7212:Ckm UTSW 7 19,148,978 (GRCm39) critical splice donor site probably null
R9313:Ckm UTSW 7 19,149,398 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCGAGACGTTTGCACTTGG -3'
(R):5'- TTATTTAAGGCAGGGCATGGAG -3'

Sequencing Primer
(F):5'- ACGTTTGCACTTGGGCACAG -3'
(R):5'- CATGGAGAAGCAGCCGGC -3'
Posted On 2014-10-01