Mutagenetix > Incidental Mutation

Incidental Mutation 'R2338:Pudp'

246654

Institutional Source

Beutler Lab

Gene Symbol

Pudp

Ensembl Gene

ENSMUSG00000048875

Gene Name

pseudouridine 5'-phosphatase

Synonyms

Hdhd1a, GS1, 1700121L12Rik

MMRRC Submission

040324-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2338 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50700727-50701770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50701646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 29 (D29G)

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: D29G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000057378
Gene: ENSMUSG00000048875
AA Change: D29G

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	13	193	3.2e-15	PFAM
Pfam:HAD_2	16	199	5.6e-21	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.5%

Validation Efficiency

98% (53/54)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,817,109 (GRCm39)	D53G	probably benign	Het
A1cf	C	T	19: 31,909,945 (GRCm39)	P330S	probably benign	Het
Acta2	A	G	19: 34,225,941 (GRCm39)		probably benign	Het
Actrt3	A	G	3: 30,651,985 (GRCm39)	*370R	probably null	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Btbd8	T	C	5: 107,658,440 (GRCm39)	L1158S	probably damaging	Het
Cadps2	C	G	6: 23,838,977 (GRCm39)		probably benign	Het
Camsap3	C	T	8: 3,656,808 (GRCm39)	R1048C	probably damaging	Het
Cdkl2	C	T	5: 92,181,538 (GRCm39)	A148T	possibly damaging	Het
Dab2	T	A	15: 6,464,733 (GRCm39)	I395K	possibly damaging	Het
Dclk2	A	G	3: 86,706,324 (GRCm39)	F589S	probably damaging	Het
Ddx60	T	C	8: 62,465,470 (GRCm39)	S1376P	possibly damaging	Het
Eprs1	T	C	1: 185,148,005 (GRCm39)	F1256L	probably damaging	Het
Etaa1	A	T	11: 17,895,605 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,202,727 (GRCm39)	T116A	possibly damaging	Het
Fem1al	C	A	11: 29,773,718 (GRCm39)	A580S	probably benign	Het
Fmnl3	T	C	15: 99,268,108 (GRCm39)	T26A	probably benign	Het
Foxp1	A	G	6: 98,980,254 (GRCm39)	V158A	possibly damaging	Het
G6pd2	T	A	5: 61,967,351 (GRCm39)	D375E	probably benign	Het
Gne	C	T	4: 44,042,196 (GRCm39)	A460T	probably damaging	Het
Gprin1	T	A	13: 54,886,238 (GRCm39)		probably null	Het
Hecw2	T	C	1: 53,943,581 (GRCm39)	M949V	possibly damaging	Het
Herc1	G	A	9: 66,336,251 (GRCm39)	V1599M	possibly damaging	Het
Hk2	A	C	6: 82,708,096 (GRCm39)	N628K	probably damaging	Het
Hmcn1	T	C	1: 150,498,685 (GRCm39)	T4065A	possibly damaging	Het
Ipo8	T	A	6: 148,691,321 (GRCm39)	Q683L	probably benign	Het
Krt81	A	G	15: 101,361,217 (GRCm39)	I121T	probably benign	Het
Lamb2	T	C	9: 108,359,340 (GRCm39)	L322P	probably benign	Het
Lilrb4a	A	G	10: 51,367,796 (GRCm39)	M113V	probably benign	Het
Mnat1	G	A	12: 73,265,917 (GRCm39)		probably null	Het
Mucl1	T	A	15: 103,783,964 (GRCm39)	T68S	possibly damaging	Het
Npnt	G	T	3: 132,597,170 (GRCm39)	D461E	probably damaging	Het
Nrp1	A	T	8: 129,224,385 (GRCm39)	Q716L	probably benign	Het
Or11g25	A	G	14: 50,723,097 (GRCm39)	T61A	possibly damaging	Het
Or12k5	T	G	2: 36,895,159 (GRCm39)	S156R	probably damaging	Het
Or51b6b	A	T	7: 103,309,617 (GRCm39)	I280N	possibly damaging	Het
Podxl2	T	C	6: 88,826,178 (GRCm39)	Q376R	probably damaging	Het
Rrs1	C	A	1: 9,616,026 (GRCm39)		probably null	Het
S1pr3	T	C	13: 51,573,614 (GRCm39)	I265T	possibly damaging	Het
Scgb1b2	A	T	7: 30,991,038 (GRCm39)	C23*	probably null	Het
Spag8	G	T	4: 43,652,826 (GRCm39)	R212S	probably benign	Het
Tacc2	A	G	7: 130,335,299 (GRCm39)		probably null	Het
Trmt1l	C	T	1: 151,304,710 (GRCm39)		probably benign	Het
Trpa1	A	T	1: 14,954,469 (GRCm39)	L810Q	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ugt3a1	T	A	15: 9,292,059 (GRCm39)		probably benign	Het
Vmn2r23	T	G	6: 123,681,384 (GRCm39)	I97M	possibly damaging	Het
Vmn2r65	A	T	7: 84,590,051 (GRCm39)	F622I	possibly damaging	Het
Vps13a	C	T	19: 16,697,817 (GRCm39)	G766E	probably damaging	Het
Wnk1	T	C	6: 119,946,495 (GRCm39)	T553A	probably benign	Het
Xirp2	T	A	2: 67,341,114 (GRCm39)	D1118E	probably damaging	Het
Zfyve9	A	C	4: 108,517,811 (GRCm39)	D461E	probably damaging	Het

Other mutations in Pudp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCATGAATCCAGCTGTGTGC -3'
(R):5'- TCAGCGTGCCATAGAAAATATGTC -3'

Sequencing Primer
(F):5'- GTGTGCAACACCATCTGCAG -3'
(R):5'- TAGAAAATATGTCACAGAGGCCC -3'

Posted On

2014-10-30