Incidental Mutation 'R4227:Urad'
ID 320078
Institutional Source Beutler Lab
Gene Symbol Urad
Ensembl Gene ENSMUSG00000075543
Gene Name ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5) decarboxylase
Synonyms Prhoxnb, EG231903
MMRRC Submission 041047-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4227 (G1)
Quality Score 137
Status Validated
Chromosome 5
Chromosomal Location 147251794-147259250 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 147252100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 117 (F117L)
Ref Sequence ENSEMBL: ENSMUSP00000098000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100433]
AlphaFold Q283N4
Predicted Effect probably damaging
Transcript: ENSMUST00000100433
AA Change: F117L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098000
Gene: ENSMUSG00000075543
AA Change: F117L

DomainStartEndE-ValueType
Pfam:OHCU_decarbox 7 163 1e-41 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,115,120 (GRCm39) T609A probably damaging Het
Agbl2 T G 2: 90,631,797 (GRCm39) L385R probably damaging Het
Arfgef2 A T 2: 166,709,244 (GRCm39) D1107V probably damaging Het
Arhgef5 C T 6: 43,256,432 (GRCm39) A1180V probably damaging Het
B9d1 C G 11: 61,403,483 (GRCm39) R160G probably damaging Het
Birc6 T C 17: 74,926,835 (GRCm39) probably null Het
Capn11 A G 17: 45,953,392 (GRCm39) probably null Het
Ceacam12 G T 7: 17,805,678 (GRCm39) M288I probably benign Het
Cfhr3 T A 1: 139,536,046 (GRCm39) noncoding transcript Het
Copa A G 1: 171,945,682 (GRCm39) probably benign Het
Cypt4 A G 9: 24,536,788 (GRCm39) M93V probably benign Het
Fat3 G A 9: 16,288,989 (GRCm39) T178I probably damaging Het
Gm15931 A G 7: 4,277,793 (GRCm39) noncoding transcript Het
Gm9871 A G 6: 101,773,654 (GRCm39) noncoding transcript Het
Gpsm1 T C 2: 26,229,638 (GRCm39) probably benign Het
Grhl1 A G 12: 24,661,850 (GRCm39) T510A probably benign Het
Kcnn3 A C 3: 89,428,482 (GRCm39) H236P possibly damaging Het
Kif21b T A 1: 136,081,831 (GRCm39) probably null Het
Lcn3 G T 2: 25,656,123 (GRCm39) M59I probably benign Het
Mrps27 C G 13: 99,547,848 (GRCm39) P253A probably damaging Het
Mug2 A T 6: 122,017,691 (GRCm39) D476V probably benign Het
Naca A T 10: 127,877,530 (GRCm39) probably benign Het
Naip5 A G 13: 100,349,276 (GRCm39) S1351P probably damaging Het
Odf2 A G 2: 29,791,296 (GRCm39) probably benign Het
Or2a56 A G 6: 42,932,648 (GRCm39) Y72C possibly damaging Het
Or4g17 A G 2: 111,209,410 (GRCm39) K22E probably benign Het
Or52ab7 A T 7: 102,978,026 (GRCm39) H111L probably damaging Het
Or5w18 T A 2: 87,633,219 (GRCm39) I162N probably damaging Het
P3h2 G T 16: 25,924,203 (GRCm39) D77E probably benign Het
Pcbp2 A G 15: 102,387,066 (GRCm39) M87V probably benign Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhh2 A G 17: 84,874,223 (GRCm39) T503A probably benign Het
Pnpla3 C A 15: 84,063,391 (GRCm39) N256K probably benign Het
Polh A G 17: 46,483,520 (GRCm39) S582P probably benign Het
Ptprb T C 10: 116,138,130 (GRCm39) Y345H possibly damaging Het
Rasl11b T A 5: 74,358,852 (GRCm39) I119N probably damaging Het
Rnaseh2a G A 8: 85,686,702 (GRCm39) T149I possibly damaging Het
Serpina10 A G 12: 103,594,674 (GRCm39) Y182H probably damaging Het
Serpina1d A G 12: 103,733,740 (GRCm39) V188A probably benign Het
Setd1a C A 7: 127,395,819 (GRCm39) probably benign Het
Slc17a8 T C 10: 89,434,575 (GRCm39) N184S probably damaging Het
Spen C T 4: 141,249,458 (GRCm39) S110N unknown Het
Tas1r1 T C 4: 152,112,729 (GRCm39) I775V probably damaging Het
Tktl2 A G 8: 66,966,351 (GRCm39) probably null Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmprss6 C T 15: 78,330,899 (GRCm39) V43M probably damaging Het
Try5 A G 6: 41,290,401 (GRCm39) Y28H possibly damaging Het
Vegfc A G 8: 54,612,445 (GRCm39) Y156C probably damaging Het
Vmn2r45 A T 7: 8,486,277 (GRCm39) V337E probably damaging Het
Vmn2r6 A T 3: 64,445,369 (GRCm39) F696L probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp131 T C 13: 120,228,282 (GRCm39) D455G probably damaging Het
Other mutations in Urad
AlleleSourceChrCoordTypePredicted EffectPPH Score
voyageurs UTSW 5 147,252,100 (GRCm39) missense probably damaging 1.00
R0140:Urad UTSW 5 147,259,141 (GRCm39) start codon destroyed probably benign 0.21
R4870:Urad UTSW 5 147,252,264 (GRCm39) missense probably damaging 0.99
R9133:Urad UTSW 5 147,252,251 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTCTCACGGTAGTTCCAC -3'
(R):5'- TGAGTAACTCTCTGAAGTGTGTC -3'

Sequencing Primer
(F):5'- TCACGGTAGTTCCACCCTGG -3'
(R):5'- AACTCTCTGAAGTGTGTCTGTGTTTC -3'
Posted On 2015-06-12