Incidental Mutation 'R1914:Pudp'
ID 214730
Institutional Source Beutler Lab
Gene Symbol Pudp
Ensembl Gene ENSMUSG00000048875
Gene Name pseudouridine 5'-phosphatase
Synonyms Hdhd1a, GS1, 1700121L12Rik
MMRRC Submission 039932-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1914 (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 50701278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 152 (N152D)
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: N152D

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000057378
Gene: ENSMUSG00000048875
AA Change: N152D

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 99% (90/91)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,622,386 (GRCm39) V618E possibly damaging Het
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Akap12 G A 10: 4,306,685 (GRCm39) R1165H probably benign Het
Asxl1 T C 2: 153,243,826 (GRCm39) S1459P probably damaging Het
Bahcc1 C T 11: 120,176,225 (GRCm39) R1957C probably damaging Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Capn15 C A 17: 26,183,837 (GRCm39) A215S probably benign Het
Casz1 T C 4: 149,017,415 (GRCm39) F235L probably damaging Het
Ccdc57 A T 11: 120,794,134 (GRCm39) probably benign Het
Cdh23 A G 10: 60,159,349 (GRCm39) V2142A probably damaging Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep104 T C 4: 154,074,296 (GRCm39) L516P possibly damaging Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Diaph3 A C 14: 86,893,921 (GRCm39) N29K probably damaging Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Ephb1 C T 9: 101,806,577 (GRCm39) C819Y probably damaging Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Fezf2 A T 14: 12,343,988 (GRCm38) V301E probably damaging Het
Fnbp4 T C 2: 90,609,537 (GRCm39) probably benign Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gas6 T C 8: 13,527,152 (GRCm39) T199A probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Grm4 A T 17: 27,653,686 (GRCm39) C755S probably damaging Het
Hdgfl2 A G 17: 56,403,978 (GRCm39) D278G probably damaging Het
Heatr5a G T 12: 51,952,250 (GRCm39) A1130E probably damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Ing1 T A 8: 11,611,577 (GRCm39) V63E probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Klf5 T C 14: 99,539,357 (GRCm39) S177P probably benign Het
Lats1 T A 10: 7,586,221 (GRCm39) probably benign Het
Lilrb4a A G 10: 51,368,045 (GRCm39) I53M probably benign Het
Lrrc2 T A 9: 110,810,007 (GRCm39) Y348N probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Med25 A G 7: 44,534,046 (GRCm39) S245P probably benign Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Naip6 T A 13: 100,435,936 (GRCm39) E862D probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nyap2 T C 1: 81,169,602 (GRCm39) S120P probably damaging Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Pappa2 A T 1: 158,578,133 (GRCm39) D1721E probably damaging Het
Pcid2 A T 8: 13,144,141 (GRCm39) probably null Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Rabggta A T 14: 55,958,646 (GRCm39) F62L possibly damaging Het
Rasal3 G A 17: 32,615,324 (GRCm39) Q505* probably null Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsph4a A T 10: 33,789,068 (GRCm39) N638Y probably damaging Het
Scn9a A G 2: 66,396,594 (GRCm39) F100L probably damaging Het
Siglece A G 7: 43,307,219 (GRCm39) V256A probably benign Het
Slc23a2 A T 2: 131,898,686 (GRCm39) L617Q probably damaging Het
Snx9 T C 17: 5,978,531 (GRCm39) I567T possibly damaging Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tbl1xr1 T C 3: 22,245,074 (GRCm39) probably benign Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Trim43c T A 9: 88,722,670 (GRCm39) D105E probably benign Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Vmn2r18 T C 5: 151,499,286 (GRCm39) N393D probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly damaging 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
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
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'- AACAGTTCAGGCTTGAAGTCG -3'
(R):5'- AGCTGGATTCATGCCAGGAG -3'

Sequencing Primer
(F):5'- AGCACCAGGGTGGCTTTTC -3'
(R):5'- TTCATGCCAGGAGCTGAGG -3'
Posted On 2014-07-14