Incidental Mutation 'R7285:Pudp'
ID 565966
Institutional Source Beutler Lab
Gene Symbol Pudp
Ensembl Gene ENSMUSG00000048875
Gene Name pseudouridine 5'-phosphatase
Synonyms Hdhd1a, GS1, 1700121L12Rik
MMRRC Submission 045393-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7285 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 50700727-50701770 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 50701287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 149 (E149Q)
Ref Sequence ENSEMBL: ENSMUSP00000057378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056460]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000056460
AA Change: E149Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057378
Gene: ENSMUSG00000048875
AA Change: E149Q

DomainStartEndE-ValueType
Pfam:Hydrolase 13 193 3.2e-15 PFAM
Pfam:HAD_2 16 199 5.6e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,388,314 (GRCm39) C185* probably null Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Adam1b T G 5: 121,639,056 (GRCm39) D663A probably damaging Het
Arhgap12 A T 18: 6,111,920 (GRCm39) L148Q probably damaging Het
Cdh4 A T 2: 179,439,258 (GRCm39) Q135L probably benign Het
Clca3b T C 3: 144,543,519 (GRCm39) I437V probably benign Het
Cldn15 A T 5: 137,001,327 (GRCm39) H124L probably benign Het
Cyp4a30b T C 4: 115,313,848 (GRCm39) M143T probably damaging Het
Dgcr2 A T 16: 17,662,944 (GRCm39) C353* probably null Het
Dhcr24 T A 4: 106,428,716 (GRCm39) probably null Het
Dock1 T G 7: 134,346,737 (GRCm39) L223R probably benign Het
Ece1 T A 4: 137,641,074 (GRCm39) probably null Het
Efcab5 A G 11: 77,028,170 (GRCm39) V387A probably benign Het
Efcab5 A G 11: 77,029,041 (GRCm39) F97L possibly damaging Het
Eme2 A T 17: 25,113,543 (GRCm39) probably null Het
Enpp1 G A 10: 24,536,059 (GRCm39) T447I probably benign Het
Fam222b T C 11: 78,034,007 (GRCm39) S17P probably benign Het
Fbln1 A G 15: 85,121,829 (GRCm39) I317V probably benign Het
Fn1 T C 1: 71,676,498 (GRCm39) K578E probably damaging Het
Fscb A T 12: 64,518,323 (GRCm39) S1048T unknown Het
Fsd1l T A 4: 53,682,200 (GRCm39) probably null Het
Hexa T A 9: 59,471,222 (GRCm39) I492K probably benign Het
Inpp5e G A 2: 26,287,870 (GRCm39) A642V probably benign Het
Ints11 C T 4: 155,970,568 (GRCm39) A241V probably damaging Het
Irs2 A G 8: 11,056,797 (GRCm39) L545P probably damaging Het
Katnal2 G A 18: 77,081,271 (GRCm39) A409V probably benign Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lbx2 A G 6: 83,064,877 (GRCm39) K138R probably damaging Het
Lcor A G 19: 41,572,754 (GRCm39) K503R possibly damaging Het
Lpp G A 16: 24,796,029 (GRCm39) A558T probably damaging Het
Lypla1 T C 1: 4,911,321 (GRCm39) I202T probably benign Het
Magi3 G A 3: 103,941,430 (GRCm39) P842S probably benign Het
Meioc G A 11: 102,557,168 (GRCm39) V25M probably benign Het
Mthfr C T 4: 148,138,056 (GRCm39) T557I probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Or2t44 T A 11: 58,677,310 (GRCm39) Y83* probably null Het
Or5d20-ps1 A T 2: 87,932,049 (GRCm39) I94N probably damaging Het
Osbpl10 A T 9: 115,052,771 (GRCm39) I440F probably damaging Het
Otx2 G A 14: 48,898,922 (GRCm39) A36V probably benign Het
Parg A G 14: 31,932,465 (GRCm39) Y435C probably damaging Het
Parvb A T 15: 84,166,985 (GRCm39) D100V possibly damaging Het
Prss27 A G 17: 24,264,665 (GRCm39) H276R probably benign Het
Prune1 T A 3: 95,162,357 (GRCm39) S439C probably damaging Het
Qng1 T C 13: 58,532,199 (GRCm39) Y119C probably damaging Het
Sin3a C A 9: 57,034,583 (GRCm39) T1252N possibly damaging Het
Sptbn2 A G 19: 4,787,471 (GRCm39) D927G probably benign Het
Stx18 C T 5: 38,262,251 (GRCm39) T89I possibly damaging Het
Ticrr T C 7: 79,310,610 (GRCm39) S175P possibly damaging Het
Tinag T C 9: 76,952,943 (GRCm39) T14A probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Trpm1 G T 7: 63,859,729 (GRCm39) E396* probably null Het
Txndc11 A G 16: 10,902,163 (GRCm39) Y684H probably damaging Het
Usp47 G A 7: 111,692,315 (GRCm39) E926K probably benign Het
Vmn1r233 A G 17: 21,214,221 (GRCm39) I243T probably damaging Het
Ythdf3 T A 3: 16,258,049 (GRCm39) probably null Het
Zfp12 A G 5: 143,230,444 (GRCm39) K289R probably damaging Het
Zfp950 T A 19: 61,107,550 (GRCm39) H511L 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
R3856:Pudp UTSW 18 50,701,124 (GRCm39) missense probably benign 0.34
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
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'- TCAGGCTTGAAGTCGTGGAG -3'
(R):5'- ACACAGCTGGATTCATGCC -3'

Sequencing Primer
(F):5'- AGCACCAGGGTGGCTTTTC -3'
(R):5'- TGGATTCATGCCAGGAGC -3'
Posted On 2019-06-26