Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01892:Pwp2'

179276

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pwp2

Ensembl Gene

ENSMUSG00000032834

Gene Name

PWP2 periodic tryptophan protein homolog (yeast)

Synonyms

Pwp2, Pwp2h, 6530411D08Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

IGL01892

Quality Score

Status

Chromosome

Chromosomal Location

78170909-78185149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78179007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 381 (Y381C)

Ref Sequence

ENSEMBL: ENSMUSP00000045812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042556]

AlphaFold

Q8BU03

Predicted Effect

probably damaging
Transcript: ENSMUST00000042556
AA Change: Y381C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: Y381C

Domain	Start	End	E-Value	Type
WD40	43	83	1.47e2	SMART
WD40	86	123	1.78e1	SMART
WD40	133	172	5.35e-1	SMART
WD40	177	216	8.29e-1	SMART
low complexity region	239	254	N/A	INTRINSIC
WD40	273	316	1.9e2	SMART
WD40	319	359	4.44e0	SMART
WD40	362	401	7.44e-8	SMART
WD40	404	443	3.87e-6	SMART
WD40	446	487	5.7e1	SMART
WD40	490	529	1.28e-11	SMART
WD40	533	571	9.94e-1	SMART
WD40	594	633	4.95e0	SMART
WD40	692	729	2.21e1	SMART
Pfam:Utp12	771	875	9.4e-25	PFAM
low complexity region	890	902	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,242,265		probably benign	Het
Cyp2c68	T	A	19: 39,734,344	E253D	probably benign	Het
Gbp2b	A	G	3: 142,603,620	D164G	probably benign	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Lct	G	T	1: 128,307,605	T555N	probably damaging	Het
Ncam2	T	A	16: 81,589,699	H655Q	possibly damaging	Het
Olfr628	A	T	7: 103,732,480	M185L	possibly damaging	Het
Olfr983	C	A	9: 40,092,818	L45F	probably damaging	Het
Pglyrp4	A	G	3: 90,739,041	N293S	probably benign	Het
Pofut2	C	A	10: 77,265,883	D251E	probably benign	Het
Prdm2	T	C	4: 143,134,404	E772G	probably damaging	Het
Prkd3	A	T	17: 78,972,501	D254E	probably benign	Het
Prr36	G	A	8: 4,215,243	P169L	probably damaging	Het
Rasgrp1	G	A	2: 117,293,842	T293M	probably damaging	Het
Snd1	G	A	6: 28,888,124		probably null	Het
Suclg2	A	T	6: 95,579,188	D237E	probably damaging	Het
Tenm3	T	C	8: 48,276,396	N1509S	probably benign	Het
Thbd	A	T	2: 148,407,068	H293Q	possibly damaging	Het
Tie1	T	A	4: 118,475,918	Y871F	probably benign	Het
Vmn1r38	A	T	6: 66,776,376	V252D	probably benign	Het
Vmn1r60	C	A	7: 5,544,310	V264F	probably benign	Het
Vmn1r68	T	C	7: 10,527,407	T255A	possibly damaging	Het
Vmn2r49	A	T	7: 9,984,763	V458E	probably benign	Het
Vmn2r9	A	T	5: 108,847,834	V316D	probably damaging	Het
Wfdc15b	A	T	2: 164,215,468	M1K	probably null	Het

Other mutations in Pwp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02163:Pwp2	APN	10	78178285	missense	possibly damaging	0.82
IGL02280:Pwp2	APN	10	78184100	missense	probably damaging	0.99
IGL02558:Pwp2	APN	10	78179065	missense	probably damaging	1.00
IGL02560:Pwp2	APN	10	78179065	missense	probably damaging	1.00
IGL02583:Pwp2	APN	10	78181083	missense	probably benign
IGL02612:Pwp2	APN	10	78182994	missense	probably damaging	0.97
PIT4283001:Pwp2	UTSW	10	78185087	start codon destroyed	probably null	1.00
PIT4449001:Pwp2	UTSW	10	78178470	missense	probably benign	0.38
R0573:Pwp2	UTSW	10	78182686	missense	probably benign	0.37
R1835:Pwp2	UTSW	10	78179091	missense	probably damaging	1.00
R2097:Pwp2	UTSW	10	78177742	splice site	probably benign
R2251:Pwp2	UTSW	10	78181088	missense	probably benign	0.04
R2967:Pwp2	UTSW	10	78182698	missense	possibly damaging	0.94
R4909:Pwp2	UTSW	10	78182494	missense	possibly damaging	0.51
R4950:Pwp2	UTSW	10	78183006	missense	probably benign	0.00
R4970:Pwp2	UTSW	10	78173693	missense	possibly damaging	0.95
R5015:Pwp2	UTSW	10	78182693	missense	probably benign	0.23
R5355:Pwp2	UTSW	10	78175544	missense	possibly damaging	0.94
R5390:Pwp2	UTSW	10	78177771	missense	possibly damaging	0.63
R5416:Pwp2	UTSW	10	78183001	missense	probably damaging	1.00
R5841:Pwp2	UTSW	10	78172118	missense	probably benign	0.00
R5928:Pwp2	UTSW	10	78182456	missense	probably damaging	0.98
R6495:Pwp2	UTSW	10	78177127	missense	probably damaging	1.00
R6771:Pwp2	UTSW	10	78182388	splice site	probably null
R6848:Pwp2	UTSW	10	78184293	splice site	probably null
R6897:Pwp2	UTSW	10	78172083	missense	probably damaging	1.00
R7060:Pwp2	UTSW	10	78173250	splice site	probably null
R7269:Pwp2	UTSW	10	78176336	missense	probably benign	0.30
R7367:Pwp2	UTSW	10	78182480	missense	probably damaging	1.00
R7368:Pwp2	UTSW	10	78182480	missense	probably damaging	1.00
R7394:Pwp2	UTSW	10	78182480	missense	probably damaging	1.00
R7728:Pwp2	UTSW	10	78178561	missense	probably benign	0.00
R7838:Pwp2	UTSW	10	78182944	critical splice donor site	probably null
R7898:Pwp2	UTSW	10	78173406	missense	probably damaging	1.00
R8072:Pwp2	UTSW	10	78172096	missense	possibly damaging	0.82
R8447:Pwp2	UTSW	10	78172039	missense	probably benign	0.10
R8750:Pwp2	UTSW	10	78177825	missense	probably damaging	1.00
R9302:Pwp2	UTSW	10	78173706	missense	probably benign	0.04
R9367:Pwp2	UTSW	10	78178993	nonsense	probably null
Z1177:Pwp2	UTSW	10	78171974	nonsense	probably null

Posted On

2014-05-07