Mutagenetix > Incidental Mutations

Incidental Mutation 'R4950:Pwp2'

381929

Institutional Source

Beutler Lab

Gene Symbol

Pwp2

Ensembl Gene

ENSMUSG00000032834

Gene Name

PWP2 periodic tryptophan protein homolog (yeast)

Synonyms

Pwp2, Pwp2h, 6530411D08Rik

MMRRC Submission

042547-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R4950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78170909-78185149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78183006 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 56 (Y56H)

Ref Sequence

ENSEMBL: ENSMUSP00000045812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000384] [ENSMUST00000042556]

Predicted Effect

probably benign
Transcript: ENSMUST00000000384

SMART Domains

Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374

Domain	Start	End	E-Value	Type
Pfam:TRAPPC10	1016	1245	1.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042556
AA Change: Y56H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: Y56H

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

Meta Mutation Damage Score

0.0736

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	T	2: 154,311,659	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,368,671	E625G	probably damaging	Het
Cage1	C	T	13: 38,023,326	S181N	possibly damaging	Het
Ccdc36	A	C	9: 108,421,510	S36R	probably damaging	Het
Ccdc73	A	C	2: 104,992,366	I887L	probably benign	Het
Cfap65	T	A	1: 74,906,336	K1408*	probably null	Het
Cngb1	C	A	8: 95,248,507	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,795,245	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073	S99P	probably benign	Het
Disp3	A	T	4: 148,258,126	D622E	possibly damaging	Het
Dnajc22	G	A	15: 99,101,734	V267I	probably benign	Het
Dph5	G	A	3: 115,928,643	G257S	probably benign	Het
Elmo2	A	T	2: 165,314,813		probably null	Het
Fam186a	T	C	15: 99,941,653	R2237G	unknown	Het
Fez1	G	A	9: 36,867,882	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,946,932	H101L	probably damaging	Het
Fsip2	G	A	2: 82,977,414	C1359Y	probably benign	Het
Fxyd7	G	A	7: 31,047,390	T15I	probably benign	Het
Gpr155	A	T	2: 73,382,185	D31E	probably benign	Het
Irx6	A	T	8: 92,678,800	Y432F	probably damaging	Het
Itih5	A	C	2: 10,235,081	I340L	probably damaging	Het
Lao1	T	C	4: 118,965,375	L164S	probably damaging	Het
Mcoln3	T	C	3: 146,139,519	I490T	probably damaging	Het
Mef2b	T	C	8: 70,167,196	Y311H	probably damaging	Het
Mras	A	T	9: 99,394,484	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,271,280	D475G	probably damaging	Het
Nrcam	T	C	12: 44,598,490	I1155T	probably damaging	Het
Ntrk1	A	G	3: 87,789,611		probably null	Het
Olfr58	G	A	9: 19,783,731	M199I	probably benign	Het
Olfr885	T	C	9: 38,062,001	I227T	probably damaging	Het
Parp9	A	T	16: 35,948,007	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,230	V421E	probably benign	Het
Pck1	T	A	2: 173,154,827	I178K	probably benign	Het
Pde6b	A	G	5: 108,430,703	K836E	probably benign	Het
Ptprd	T	A	4: 76,140,515		probably null	Het
Rarb	G	A	14: 16,432,085		probably benign	Het
Rpain	C	G	11: 70,970,921	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,704,759		probably null	Het
Rubcn	A	T	16: 32,843,193	S358T	probably damaging	Het
Ryr2	G	A	13: 11,742,011	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,981,904	I669V	probably benign	Het
Slx1b	T	C	7: 126,691,767		probably benign	Het
Spsb3	T	A	17: 24,887,511		probably benign	Het
Tbx15	A	G	3: 99,326,384	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,837,332	E481D	probably damaging	Het
Trim17	A	T	11: 58,970,428	D253V	probably damaging	Het
Trim69	A	G	2: 122,178,746	D429G	probably damaging	Het
Vstm5	A	G	9: 15,257,794		probably null	Het
Vwa3b	A	G	1: 37,085,332	Q337R	probably benign	Het
Zfp113	T	C	5: 138,145,472	N172S	probably benign	Het
Zfp607a	T	A	7: 27,878,751	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,517,899	T148I	probably benign	Het

Other mutations in Pwp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01892:Pwp2	APN	10	78179007	missense	probably damaging	1.00
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
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	intron	probably null
R6897:Pwp2	UTSW	10	78172083	missense	probably damaging	1.00
R7060:Pwp2	UTSW	10	78173250	intron	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
R7921:Pwp2	UTSW	10	78182944	critical splice donor site	probably null
R7981:Pwp2	UTSW	10	78173406	missense	probably damaging	1.00
R8072:Pwp2	UTSW	10	78172096	missense	possibly damaging	0.82
Z1177:Pwp2	UTSW	10	78171974	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGGAACCTGTGCTATGAAG -3'
(R):5'- AAGAACATACAGCCTTTGCAAG -3'

Sequencing Primer
(F):5'- CTATGAAGCTGAACTTGACCCTAGG -3'
(R):5'- GTGTGCTACCCTTAACTCGAAAAGG -3'

Posted On

2016-04-27