Incidental Mutation 'R0682:Uck2'
ID 60991
Institutional Source Beutler Lab
Gene Symbol Uck2
Ensembl Gene ENSMUSG00000026558
Gene Name uridine-cytidine kinase 2
Synonyms TSA903, Umpk
MMRRC Submission 038867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R0682 (G1)
Quality Score 88
Status Not validated
Chromosome 1
Chromosomal Location 167050464-167112657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167064259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 90 (D90G)
Ref Sequence ENSEMBL: ENSMUSP00000141216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027839] [ENSMUST00000053686] [ENSMUST00000191745] [ENSMUST00000192702]
AlphaFold Q99PM9
Predicted Effect probably damaging
Transcript: ENSMUST00000027839
AA Change: D79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027839
Gene: ENSMUSG00000026558
AA Change: D79G

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 damaging
Transcript: ENSMUST00000053686
AA Change: D90G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060202
Gene: ENSMUSG00000026558
AA Change: D90G

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: D77G
Predicted Effect probably damaging
Transcript: ENSMUST00000192702
AA Change: D90G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141216
Gene: ENSMUSG00000026558
AA Change: D90G

DomainStartEndE-ValueType
Pfam:PRK 22 129 6.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193579
Predicted Effect unknown
Transcript: ENSMUST00000195443
AA Change: D22G
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,121,650 (GRCm39) H83R probably benign Het
Abcd3 A C 3: 121,563,216 (GRCm39) I471S possibly damaging Het
Abcg1 G A 17: 31,330,225 (GRCm39) V509I probably benign Het
Adamts9 A T 6: 92,880,783 (GRCm39) N497K possibly damaging Het
Agap2 A G 10: 126,919,351 (GRCm39) S479G unknown Het
Asic2 T C 11: 80,777,506 (GRCm39) I402V possibly damaging Het
Atp1a2 G A 1: 172,112,164 (GRCm39) T577I probably benign Het
Atraid T A 5: 31,209,612 (GRCm39) I92K probably damaging Het
Dpp10 C A 1: 123,832,852 (GRCm39) A31S probably damaging Het
Erich6 A T 3: 58,544,232 (GRCm39) F118L probably benign Het
Galnt18 T C 7: 111,119,222 (GRCm39) Y418C probably damaging Het
Herc1 T A 9: 66,389,263 (GRCm39) C3927S possibly damaging Het
Ifit2 G A 19: 34,551,012 (GRCm39) R184H probably benign Het
Kif24 A T 4: 41,428,620 (GRCm39) N113K probably benign Het
Lrp1b T A 2: 41,185,653 (GRCm39) Y1354F probably benign Het
Muc1 T A 3: 89,138,439 (GRCm39) I427N probably damaging Het
Muc5ac A G 7: 141,359,406 (GRCm39) T1288A possibly damaging Het
Or7g32 C A 9: 19,388,645 (GRCm39) M300I probably benign Het
Or9i14 C T 19: 13,792,501 (GRCm39) C151Y possibly damaging Het
Pex26 T A 6: 121,161,363 (GRCm39) V47E probably damaging Het
Plekhm2 T C 4: 141,355,436 (GRCm39) I871V probably damaging Het
Rasal2 A G 1: 157,006,779 (GRCm39) S111P probably damaging Het
Rnf133 A T 6: 23,649,569 (GRCm39) I163N probably damaging Het
Rrp8 A C 7: 105,383,218 (GRCm39) D349E probably damaging Het
Sdhd G T 9: 50,511,905 (GRCm39) Q38K probably benign Het
Ssh1 C T 5: 114,098,718 (GRCm39) S117N probably damaging Het
Tbc1d2b A G 9: 90,131,915 (GRCm39) M148T probably benign Het
Tnni3k A G 3: 154,645,665 (GRCm39) S470P probably damaging Het
Tnr C T 1: 159,679,877 (GRCm39) Q284* probably null Het
Trim30a A C 7: 104,078,389 (GRCm39) V229G probably damaging Het
Trim43a G A 9: 88,464,199 (GRCm39) E37K probably benign Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Vmn1r229 A T 17: 21,034,950 (GRCm39) E65V probably benign Het
Vmn2r26 A G 6: 124,038,129 (GRCm39) E568G probably damaging Het
Whamm A G 7: 81,235,886 (GRCm39) E363G probably damaging Het
Wrap53 A G 11: 69,453,272 (GRCm39) S390P probably damaging Het
Wrn A G 8: 33,757,848 (GRCm39) S814P probably benign Het
Zfp329 A G 7: 12,544,211 (GRCm39) C438R probably damaging Het
Zkscan8 T C 13: 21,710,930 (GRCm39) Y60C probably damaging Het
Other mutations in Uck2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0112:Uck2 UTSW 1 167,055,340 (GRCm39) missense probably damaging 0.98
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
T0722:Uck2 UTSW 1 167,062,280 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- ATGATCCCGATGGCTCAAACCCTC -3'
(R):5'- CAAACAGCTCAGTTTGCCAGAACTC -3'

Sequencing Primer
(F):5'- CAGCTACAGGTACAGCCTGAG -3'
(R):5'- GTTTGCCAGAACTCATTTAACACAC -3'
Posted On 2013-07-30