Incidental Mutation 'R9459:Cmpk2'
ID 714771
Institutional Source Beutler Lab
Gene Symbol Cmpk2
Ensembl Gene ENSMUSG00000020638
Gene Name cytidine/uridine monophosphate kinase 2
Synonyms TDKI, Tyki, 1200004E04Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 26519203-26529836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26528022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 413 (T413M)
Ref Sequence ENSEMBL: ENSMUSP00000020969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020969]
AlphaFold Q3U5Q7
Predicted Effect probably damaging
Transcript: ENSMUST00000020969
AA Change: T413M

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020969
Gene: ENSMUSG00000020638
AA Change: T413M

DomainStartEndE-ValueType
low complexity region 97 112 N/A INTRINSIC
low complexity region 198 208 N/A INTRINSIC
Pfam:Thymidylate_kin 257 438 2.1e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,735,414 (GRCm39) probably null Het
Alms1 T A 6: 85,604,946 (GRCm39) C2199S probably damaging Het
Aox3 A G 1: 58,189,468 (GRCm39) I390V probably benign Het
Ap3b2 T C 7: 81,123,651 (GRCm39) N400S probably benign Het
Baalc A T 15: 38,797,419 (GRCm39) N70I probably benign Het
Brca2 T A 5: 150,464,094 (GRCm39) V1286D probably damaging Het
Ccdc30 T C 4: 119,234,470 (GRCm39) R81G possibly damaging Het
Cd209g T C 8: 4,185,610 (GRCm39) S15P probably benign Het
Chrnb3 G A 8: 27,883,884 (GRCm39) W207* probably null Het
Coq4 T A 2: 29,678,562 (GRCm39) Y63N probably damaging Het
Depdc5 T A 5: 33,148,117 (GRCm39) S1478T probably damaging Het
Etf1 A G 18: 35,039,134 (GRCm39) F378L probably benign Het
Exoc6 T C 19: 37,574,341 (GRCm39) V324A probably benign Het
Frem2 A G 3: 53,560,907 (GRCm39) L1200P probably benign Het
Gadl1 T C 9: 115,794,679 (GRCm39) W285R probably damaging Het
Gbp3 A G 3: 142,270,707 (GRCm39) probably null Het
Gm14295 C T 2: 176,499,165 (GRCm39) T5I possibly damaging Het
Hps4 T C 5: 112,522,875 (GRCm39) S578P probably benign Het
Kctd13 T A 7: 126,544,254 (GRCm39) D317E probably damaging Het
Kdm4b T A 17: 56,706,509 (GRCm39) D881E probably benign Het
Klf10 G A 15: 38,296,171 (GRCm39) P473L probably damaging Het
Lrch3 A T 16: 32,799,775 (GRCm39) D371V probably damaging Het
Msh2 T C 17: 87,985,758 (GRCm39) S112P possibly damaging Het
Msh3 A G 13: 92,352,047 (GRCm39) V1036A possibly damaging Het
Mybl1 A G 1: 9,746,484 (GRCm39) V392A possibly damaging Het
Myo7a T C 7: 97,722,380 (GRCm39) I1182V possibly damaging Het
Nectin1 A C 9: 43,715,090 (GRCm39) E442A probably benign Het
Nscme3l T A 19: 5,553,757 (GRCm39) H8L probably benign Het
Obsl1 G T 1: 75,474,884 (GRCm39) H839N probably benign Het
Or4c105 T C 2: 88,647,967 (GRCm39) F151L probably benign Het
Or9i1b T C 19: 13,896,674 (GRCm39) C97R possibly damaging Het
Pacs1 C T 19: 5,195,098 (GRCm39) probably null Het
Pcdh17 G T 14: 84,686,063 (GRCm39) E843D probably benign Het
Pcnt A G 10: 76,228,572 (GRCm39) L1531P probably damaging Het
Pdgfra A G 5: 75,353,129 (GRCm39) D973G probably damaging Het
Pkd2 A G 5: 104,614,800 (GRCm39) Y214C probably damaging Het
Plcb1 T C 2: 135,164,558 (GRCm39) Y427H probably benign Het
Ppm1h A G 10: 122,743,482 (GRCm39) N402S possibly damaging Het
Rassf4 T A 6: 116,618,749 (GRCm39) probably null Het
Ryr1 G A 7: 28,768,068 (GRCm39) T2856I probably damaging Het
Serpinb8 A T 1: 107,533,520 (GRCm39) K192* probably null Het
Slfn14 T G 11: 83,170,198 (GRCm39) Q482P possibly damaging Het
Spata2 A G 2: 167,327,205 (GRCm39) V64A probably benign Het
Tax1bp1 T G 6: 52,706,314 (GRCm39) V105G probably damaging Het
Tbc1d22a T G 15: 86,120,021 (GRCm39) S142A possibly damaging Het
Tdrd9 T C 12: 111,992,007 (GRCm39) F594S probably damaging Het
Uba3 T C 6: 97,166,559 (GRCm39) I281V probably benign Het
Uggt2 T C 14: 119,286,595 (GRCm39) E723G probably benign Het
Usp20 C T 2: 30,901,024 (GRCm39) S391F probably damaging Het
Usp24 T A 4: 106,199,555 (GRCm39) D166E probably damaging Het
Vmn1r1 A G 1: 181,985,503 (GRCm39) V54A probably benign Het
Zfp442 T A 2: 150,250,668 (GRCm39) E411D unknown Het
Zfp804a T C 2: 82,089,753 (GRCm39) I1194T probably damaging Het
Other mutations in Cmpk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Cmpk2 APN 12 26,527,177 (GRCm39) missense probably damaging 1.00
IGL03306:Cmpk2 APN 12 26,521,442 (GRCm39) missense possibly damaging 0.77
R0090:Cmpk2 UTSW 12 26,528,021 (GRCm39) missense probably benign 0.00
R0245:Cmpk2 UTSW 12 26,519,517 (GRCm39) missense probably benign 0.01
R0369:Cmpk2 UTSW 12 26,527,150 (GRCm39) nonsense probably null
R0610:Cmpk2 UTSW 12 26,528,055 (GRCm39) missense possibly damaging 0.84
R1370:Cmpk2 UTSW 12 26,521,451 (GRCm39) missense probably damaging 1.00
R1897:Cmpk2 UTSW 12 26,524,046 (GRCm39) missense probably damaging 1.00
R4181:Cmpk2 UTSW 12 26,527,046 (GRCm39) missense probably damaging 0.97
R4210:Cmpk2 UTSW 12 26,519,570 (GRCm39) missense probably benign 0.00
R4544:Cmpk2 UTSW 12 26,528,016 (GRCm39) missense probably damaging 1.00
R5689:Cmpk2 UTSW 12 26,519,766 (GRCm39) missense probably benign 0.10
R6378:Cmpk2 UTSW 12 26,519,415 (GRCm39) missense possibly damaging 0.49
R6383:Cmpk2 UTSW 12 26,528,019 (GRCm39) missense probably benign 0.05
R6597:Cmpk2 UTSW 12 26,524,144 (GRCm39) missense possibly damaging 0.95
R6978:Cmpk2 UTSW 12 26,527,018 (GRCm39) missense probably damaging 1.00
R7332:Cmpk2 UTSW 12 26,528,061 (GRCm39) missense probably damaging 1.00
R8316:Cmpk2 UTSW 12 26,524,136 (GRCm39) missense probably damaging 1.00
R8441:Cmpk2 UTSW 12 26,527,204 (GRCm39) missense probably benign 0.20
R9176:Cmpk2 UTSW 12 26,524,027 (GRCm39) missense probably benign 0.04
R9275:Cmpk2 UTSW 12 26,519,568 (GRCm39) missense probably benign 0.01
R9278:Cmpk2 UTSW 12 26,519,568 (GRCm39) missense probably benign 0.01
R9506:Cmpk2 UTSW 12 26,519,850 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- AAGCATCACTTCGGACATCATC -3'
(R):5'- CCCTAAATCTAAGAAGCTGCATGG -3'

Sequencing Primer
(F):5'- CGGACATCATCCTTCATTGAAC -3'
(R):5'- TCTAAGAAGCTGCATGGCAAGTG -3'
Posted On 2022-06-15