Incidental Mutation 'R3856:Pudp'
ID 276191
Institutional Source Beutler Lab
Gene Symbol Pudp
Ensembl Gene ENSMUSG00000048875
Gene Name pseudouridine 5'-phosphatase
Synonyms Hdhd1a, GS1, 1700121L12Rik
MMRRC Submission 040902-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3856 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 50700727-50701770 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50701124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 203 (N203S)
Ref Sequence ENSEMBL: ENSMUSP00000057378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056460]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056460
AA Change: N203S

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057378
Gene: ENSMUSG00000048875
AA Change: N203S

DomainStartEndE-ValueType
Pfam:Hydrolase 13 193 3.2e-15 PFAM
Pfam:HAD_2 16 199 5.6e-21 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
Allele List at MGI

 All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,292,882 (GRCm39) S469P possibly damaging Het
Adgrf5 A T 17: 43,757,927 (GRCm39) N787I possibly damaging Het
Ank2 T C 3: 126,723,493 (GRCm39) T945A probably benign Het
Aox4 T A 1: 58,293,093 (GRCm39) I863N probably damaging Het
Ap3d1 A G 10: 80,548,019 (GRCm39) I891T probably benign Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Atxn7l1 A G 12: 33,417,599 (GRCm39) T587A probably damaging Het
Atxn7l3 T C 11: 102,184,729 (GRCm39) D128G probably damaging Het
Cacna1h T C 17: 25,611,427 (GRCm39) Y457C probably damaging Het
Ccdc60 A C 5: 116,310,514 (GRCm39) C183G probably damaging Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Cnst C T 1: 179,407,279 (GRCm39) P109S probably benign Het
Crtc2 G T 3: 90,169,877 (GRCm39) L509F probably damaging Het
Ctsr A T 13: 61,309,750 (GRCm39) I153N possibly damaging Het
Dffa A T 4: 149,188,708 (GRCm39) M1L possibly damaging Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eef2k T A 7: 120,498,594 (GRCm39) C91* probably null Het
Eml5 T C 12: 98,782,283 (GRCm39) D1336G probably damaging Het
F12 G A 13: 55,569,035 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbxo40 A T 16: 36,789,445 (GRCm39) L555Q probably damaging Het
Frmpd1 T C 4: 45,283,698 (GRCm39) S840P probably damaging Het
Gadd45a C T 6: 67,013,989 (GRCm39) probably null Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr171 T C 3: 59,005,506 (GRCm39) T90A probably damaging Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
H2-M10.6 T A 17: 37,123,396 (GRCm39) I30N probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Hspa4l C A 3: 40,739,821 (GRCm39) H698Q probably benign Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Kdm4a C T 4: 118,010,428 (GRCm39) R605H probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or52ae7 T A 7: 103,119,867 (GRCm39) V207E probably damaging Het
Pbp2 A G 6: 135,287,143 (GRCm39) L68P probably benign Het
Pcnx3 G T 19: 5,728,995 (GRCm39) T547K probably benign Het
Ppp1r12a T C 10: 108,089,362 (GRCm39) probably benign Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sall3 G A 18: 81,015,717 (GRCm39) T737M probably damaging Het
Scn2b A G 9: 45,036,759 (GRCm39) N89S possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Slc13a4 C A 6: 35,248,539 (GRCm39) probably null Het
Slc4a4 A C 5: 89,380,698 (GRCm39) S1015R probably benign Het
Slc8a1 T C 17: 81,955,803 (GRCm39) T412A probably benign Het
Spag17 A T 3: 100,014,075 (GRCm39) D2116V probably damaging Het
Trim55 T C 3: 19,727,120 (GRCm39) F396L probably benign Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vmn1r189 A T 13: 22,286,439 (GRCm39) F133I possibly damaging Het
Zfp735 T C 11: 73,602,282 (GRCm39) S409P probably benign Het
Other mutations in Pudp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Pudp APN 18 50,701,349 (GRCm39) missense probably damaging 1.00
IGL02735:Pudp APN 18 50,701,403 (GRCm39) missense probably benign 0.10
IGL03178:Pudp APN 18 50,701,472 (GRCm39) missense probably benign 0.23
F5426:Pudp UTSW 18 50,701,612 (GRCm39) missense probably benign 0.00
R1914:Pudp UTSW 18 50,701,278 (GRCm39) missense probably benign 0.06
R1915:Pudp UTSW 18 50,701,278 (GRCm39) missense probably benign 0.06
R2338:Pudp UTSW 18 50,701,646 (GRCm39) missense probably benign 0.01
R4067:Pudp UTSW 18 50,701,329 (GRCm39) missense probably benign 0.06
R4649:Pudp UTSW 18 50,701,259 (GRCm39) missense probably damaging 1.00
R4783:Pudp UTSW 18 50,701,136 (GRCm39) missense probably damaging 1.00
R4784:Pudp UTSW 18 50,701,136 (GRCm39) missense probably damaging 1.00
R4785:Pudp UTSW 18 50,701,136 (GRCm39) missense probably damaging 1.00
R4936:Pudp UTSW 18 50,701,539 (GRCm39) missense probably benign 0.00
R6075:Pudp UTSW 18 50,701,299 (GRCm39) missense probably damaging 1.00
R6430:Pudp UTSW 18 50,701,307 (GRCm39) missense probably benign 0.33
R7285:Pudp UTSW 18 50,701,287 (GRCm39) missense possibly damaging 0.94
R7592:Pudp UTSW 18 50,701,053 (GRCm39) missense probably damaging 1.00
R8012:Pudp UTSW 18 50,701,310 (GRCm39) missense possibly damaging 0.48
R9304:Pudp UTSW 18 50,701,670 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGCAACATGGGTCCTGAG -3'
(R):5'- GAAACACCGCTTACCCTTTGC -3'

Sequencing Primer
(F):5'- CAGTTCAGGCTTGAAGTC -3'
(R):5'- CCAGTAGACACACAGGATTCTTTGG -3'
Posted On 2015-04-06