Incidental Mutation 'T0722:Uck2'
ID 67319
Institutional Source Beutler Lab
Gene Symbol Uck2
Ensembl Gene ENSMUSG00000026558
Gene Name uridine-cytidine kinase 2
Synonyms TSA903, Umpk
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # T0722 (G3) of strain 711
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 167050464-167112657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 167062280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 149 (D149E)
Ref Sequence ENSEMBL: ENSMUSP00000027839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027839] [ENSMUST00000053686] [ENSMUST00000191745] [ENSMUST00000192702]
AlphaFold Q99PM9
Predicted Effect probably benign
Transcript: ENSMUST00000027839
AA Change: D149E

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027839
Gene: ENSMUSG00000026558
AA Change: D149E

DomainStartEndE-ValueType
Pfam:CoaE 21 195 3.5e-9 PFAM
Pfam:PRK 22 217 5.4e-56 PFAM
Pfam:AAA_18 23 187 8.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053686
AA Change: D160E

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000060202
Gene: ENSMUSG00000026558
AA Change: D160E

DomainStartEndE-ValueType
Pfam:CoaE 21 195 3.5e-9 PFAM
Pfam:PRK 22 217 5.4e-56 PFAM
Pfam:AAA_18 23 187 8.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191745
SMART Domains Protein: ENSMUSP00000141787
Gene: ENSMUSG00000026558

DomainStartEndE-ValueType
PDB:1UJ2|B 1 33 1e-17 PDB
SCOP:d1esma_ 12 33 6e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000192269
AA Change: D147E
Predicted Effect probably benign
Transcript: ENSMUST00000192702
SMART Domains Protein: ENSMUSP00000141216
Gene: ENSMUSG00000026558

DomainStartEndE-ValueType
Pfam:PRK 22 129 6.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193579
Predicted Effect unknown
Transcript: ENSMUST00000195443
AA Change: D92E
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 95% (42/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A G 12: 113,453,197 (GRCm39) T5A possibly damaging Het
Adam6b T A 12: 113,454,888 (GRCm39) D568E probably benign Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ago3 T G 4: 126,298,089 (GRCm39) T144P probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Atp6v1g3 T A 1: 138,201,591 (GRCm39) probably benign Het
Azin2 A G 4: 128,839,927 (GRCm39) Y222H probably benign Het
Bicd2 C A 13: 49,533,127 (GRCm39) P571Q probably benign Het
Camta2 A G 11: 70,574,831 (GRCm39) I75T probably damaging Het
Casp1 A T 9: 5,299,851 (GRCm39) H108L probably benign Het
Cdk5r1 G T 11: 80,368,707 (GRCm39) V125F probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 73,215,878 (GRCm39) probably benign Het
Cngb1 A G 8: 96,023,278 (GRCm39) M240T probably benign Het
Cngb1 G A 8: 96,030,342 (GRCm39) probably benign Het
Cngb1 T C 8: 96,030,324 (GRCm39) probably benign Het
Cngb1 G T 8: 96,024,447 (GRCm39) Q205K probably damaging Het
Cog8 G T 8: 107,775,625 (GRCm39) L580I probably benign Het
Copa A G 1: 171,939,515 (GRCm39) E593G possibly damaging Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cwf19l2 T C 9: 3,456,755 (GRCm39) F696S probably benign Het
Ddi2 G A 4: 141,440,784 (GRCm39) probably benign Het
Eml5 T C 12: 98,807,841 (GRCm39) D984G probably null Het
Fam135b T G 15: 71,335,734 (GRCm39) T487P probably damaging Het
Fstl3 A G 10: 79,615,997 (GRCm39) Y161C probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm8186 C T 17: 26,318,101 (GRCm39) R32Q probably benign Het
Jakmip1 C A 5: 37,276,247 (GRCm39) A519D probably damaging Het
Jcad G T 18: 4,675,531 (GRCm39) A1098S probably benign Het
Klhl14 T C 18: 21,691,192 (GRCm39) Y446C probably damaging Het
Lims1 A G 10: 58,254,277 (GRCm39) N344D probably benign Het
Marco A T 1: 120,402,441 (GRCm39) W502R probably damaging Het
Mmp13 G T 9: 7,280,857 (GRCm39) M413I possibly damaging Het
Mmp25 G A 17: 23,850,192 (GRCm39) A456V possibly damaging Het
Msi2 A T 11: 88,285,423 (GRCm39) M207K probably damaging Het
Myh8 G A 11: 67,195,262 (GRCm39) R1692Q probably benign Het
Nbas A G 12: 13,402,809 (GRCm39) I788V probably benign Het
Nup188 A G 2: 30,212,693 (GRCm39) D632G probably damaging Het
Opa1 T C 16: 29,429,748 (GRCm39) probably null Het
Or12k7 T G 2: 36,958,449 (GRCm39) L44R probably damaging Het
Or1n2 T C 2: 36,797,582 (GRCm39) V208A probably benign Het
Or4c114 A G 2: 88,905,303 (GRCm39) V44A probably benign Het
Or5w17 T A 2: 87,583,467 (GRCm39) Y290F probably damaging Het
Pabpc1l G A 2: 163,884,340 (GRCm39) G359D possibly damaging Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Psma5-ps A G 10: 85,149,457 (GRCm39) noncoding transcript Het
Qser1 A G 2: 104,617,177 (GRCm39) C1122R possibly damaging Het
Rfx8 A G 1: 39,722,772 (GRCm39) S282P probably damaging Het
Sec14l2 C T 11: 4,053,673 (GRCm39) probably null Het
Sim2 C A 16: 93,910,281 (GRCm39) H228N probably benign Het
Slc15a2 A G 16: 36,772,445 (GRCm38) M179T probably benign Het
Slc30a6 T A 17: 74,719,319 (GRCm39) probably null Het
Smarcc1 G A 9: 110,035,153 (GRCm39) E859K possibly damaging Het
Snx1 CTT CTTGTT 9: 66,012,209 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Spta1 A G 1: 174,018,632 (GRCm39) probably benign Het
Sytl1 C A 4: 132,984,162 (GRCm39) probably benign Het
Sytl1 A G 4: 132,984,164 (GRCm39) probably benign Het
Tent4a G A 13: 69,655,074 (GRCm39) R224* probably null Het
Terf2 T C 8: 107,803,306 (GRCm39) K425E probably benign Het
Tmem26 A G 10: 68,614,548 (GRCm39) E321G probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Wnt5a G A 14: 28,233,882 (GRCm39) A17T probably benign Het
Yif1b T C 7: 28,938,038 (GRCm39) probably null Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign Het
Other mutations in Uck2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0112:Uck2 UTSW 1 167,055,340 (GRCm39) missense probably damaging 0.98
R0682:Uck2 UTSW 1 167,064,259 (GRCm39) missense probably damaging 1.00
R1517:Uck2 UTSW 1 167,062,293 (GRCm39) missense probably damaging 1.00
R7202:Uck2 UTSW 1 167,054,084 (GRCm39) missense probably damaging 1.00
R7362:Uck2 UTSW 1 167,065,211 (GRCm39) missense possibly damaging 0.93
R8837:Uck2 UTSW 1 167,070,715 (GRCm39) missense probably benign
R8985:Uck2 UTSW 1 167,070,681 (GRCm39) missense probably benign
R9224:Uck2 UTSW 1 167,065,171 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GACCGAACAAGCCTTTCTTTGCC -3'
(R):5'- AGCAGATGCTCTGATCTTGCTGTG -3'

Sequencing Primer
(F):5'- CTGATATAACTGGGCTGAGTCAC -3'
(R):5'- AAAGAGGAGACGGTCACCAT -3'
Posted On 2013-09-03