Incidental Mutation 'R6149:Ckb'
Institutional Source Beutler Lab
Gene Symbol Ckb
Ensembl Gene ENSMUSG00000001270
Gene Namecreatine kinase, brain
SynonymsB-CK, Ck-3
MMRRC Submission 044296-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6149 (G1)
Quality Score225.009
Status Validated
Chromosomal Location111669361-111672338 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111671814 bp
Amino Acid Change Serine to Glycine at position 49 (S49G)
Ref Sequence ENSEMBL: ENSMUSP00000001304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001304]
Predicted Effect probably damaging
Transcript: ENSMUST00000001304
AA Change: S49G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001304
Gene: ENSMUSG00000001270
AA Change: S49G

Pfam:ATP-gua_PtransN 24 99 1.9e-36 PFAM
Pfam:ATP-gua_Ptrans 120 367 1.9e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223099
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 99% (69/70)
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. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have abnormal hippocampal morphology with enlarged mossy fiber field size and display resistance to pharmacologically induced seizures, reduced habituation and spatial learning impairments. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik T A 1: 161,949,642 R115S probably benign Het
Adgre1 A G 17: 57,445,018 K589E probably benign Het
Adgrv1 A T 13: 81,182,774 L74Q probably damaging Het
Avil A G 10: 127,006,582 I77V probably benign Het
Best2 T C 8: 85,013,267 E57G probably benign Het
C87977 A G 4: 144,207,413 S375P probably damaging Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Catsperb T A 12: 101,549,839 I578K probably damaging Het
Chsy1 A G 7: 66,125,385 Y154C probably damaging Het
Chuk A G 19: 44,101,831 V74A probably damaging Het
Crtac1 A G 19: 42,283,609 Y632H unknown Het
Ern1 C A 11: 106,405,815 E770* probably null Het
Fam114a2 A C 11: 57,487,589 V450G probably benign Het
Fgf15 C T 7: 144,899,769 Q125* probably null Het
Frem2 A T 3: 53,551,341 S2036T probably damaging Het
Fxr2 G A 11: 69,649,204 V296I probably benign Het
Gm15264 C A 3: 94,733,429 noncoding transcript Het
Gm340 T A 19: 41,585,202 W799R probably damaging Het
Ifi213 A T 1: 173,594,015 S103T probably benign Het
Igkv5-37 T A 6: 69,963,488 Q57H probably damaging Het
Il1rap A G 16: 26,712,219 Y435C probably damaging Het
Kl T A 5: 150,988,853 M689K possibly damaging Het
Lnp1 C T 16: 56,917,372 E118K probably benign Het
Lrif1 A C 3: 106,732,327 K243Q possibly damaging Het
Lrp1b G T 2: 40,875,153 probably null Het
Lvrn G A 18: 46,884,432 V610I probably benign Het
Med1 T C 11: 98,183,853 K67R possibly damaging Het
Midn T C 10: 80,154,457 S278P probably damaging Het
Nrap A G 19: 56,389,453 V35A possibly damaging Het
Nynrin A T 14: 55,854,323 Q32L possibly damaging Het
Olfr1265 C T 2: 90,037,516 A199V probably benign Het
Olfr1328 A G 4: 118,934,431 L139P probably damaging Het
Olfr1444 A T 19: 12,862,359 I195F probably benign Het
Olfr2 T C 7: 107,001,600 I87V probably benign Het
Olfr218 G T 1: 173,204,015 V220F probably benign Het
Oog1 C T 12: 87,606,273 T113I possibly damaging Het
Otogl C T 10: 107,881,453 V386I probably benign Het
Patj A G 4: 98,424,325 N300S possibly damaging Het
Pcdhb16 T A 18: 37,479,155 D389E possibly damaging Het
Pdcd6ip T C 9: 113,659,871 I699V probably benign Het
Pfas A G 11: 68,991,945 V790A probably benign Het
Plppr4 A T 3: 117,322,394 C605S probably benign Het
Ppl G A 16: 5,107,596 Q60* probably null Het
Ppp1r1c A G 2: 79,756,466 K52R possibly damaging Het
Prpf40a T C 2: 53,157,915 M197V probably benign Het
Rpe65 G A 3: 159,614,143 E217K probably benign Het
Rufy4 T C 1: 74,147,733 I560T probably benign Het
Ryr2 T C 13: 11,669,017 S3054G probably benign Het
Serpinb6a A T 13: 33,918,360 L273H probably damaging Het
Sf3b1 A T 1: 55,007,507 W293R probably damaging Het
Sik1 A T 17: 31,848,797 S435T possibly damaging Het
Slc2a12 G T 10: 22,664,502 M85I probably benign Het
Stk36 T C 1: 74,634,229 S1094P probably benign Het
Tctn1 A T 5: 122,246,586 Y393N probably benign Het
Tex9 C T 9: 72,462,000 probably null Het
Thbs2 A G 17: 14,679,680 probably null Het
Tmprss7 A T 16: 45,673,905 C412* probably null Het
Tpp1 T C 7: 105,747,727 T399A probably benign Het
Trim25 T A 11: 89,015,536 V387D probably benign Het
Usp45 A C 4: 21,810,797 D331A probably damaging Het
Vill T G 9: 119,058,414 V82G possibly damaging Het
Vmn1r189 T C 13: 22,101,884 D261G probably benign Het
Vmn2r111 G A 17: 22,548,815 T567I probably benign Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Vmn2r60 A G 7: 42,136,976 Y401C probably damaging Het
Zc3h11a G A 1: 133,638,875 R69* probably null Het
Other mutations in Ckb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02115:Ckb APN 12 111669981 missense possibly damaging 0.94
R0179:Ckb UTSW 12 111670176 missense probably benign 0.00
R0686:Ckb UTSW 12 111670193 missense probably benign 0.42
R1065:Ckb UTSW 12 111671247 missense probably benign 0.07
R1311:Ckb UTSW 12 111669645 small deletion probably benign
R1481:Ckb UTSW 12 111671262 missense probably benign 0.05
R1888:Ckb UTSW 12 111669645 small deletion probably benign
R1888:Ckb UTSW 12 111669645 small deletion probably benign
R1891:Ckb UTSW 12 111669645 small deletion probably benign
R2345:Ckb UTSW 12 111671804 missense probably damaging 1.00
R4936:Ckb UTSW 12 111671230 missense probably benign 0.14
R5934:Ckb UTSW 12 111670229 missense probably damaging 1.00
R7976:Ckb UTSW 12 111671032 missense possibly damaging 0.47
Predicted Primers PCR Primer

Sequencing Primer
Posted On2017-10-10