Mutagenetix > Incidental Mutation

Incidental Mutation 'R5928:Pwp2'

460022

Institutional Source

Beutler Lab

Gene Symbol

Pwp2

Ensembl Gene

ENSMUSG00000032834

Gene Name

PWP2 periodic tryptophan protein homolog (yeast)

Synonyms

Pwp2, Pwp2h, 6530411D08Rik

MMRRC Submission

044123-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R5928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78170909-78185149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78182456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 134 (F134I)

Ref Sequence

ENSEMBL: ENSMUSP00000045812 (fasta)

Gene Model

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

AlphaFold

Q8BU03

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 damaging
Transcript: ENSMUST00000042556
AA Change: F134I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: F134I

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

0.7158

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (90/93)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,318,185	I475L	probably benign	Het
Abcc2	C	T	19: 43,819,358	R813W	probably damaging	Het
Adam34	T	C	8: 43,652,030	T193A	probably benign	Het
Adgb	T	C	10: 10,378,787	D1118G	probably damaging	Het
Adprh	A	C	16: 38,447,384	S180A	probably benign	Het
AI314180	A	T	4: 58,849,948	M425K	possibly damaging	Het
Atad5	A	T	11: 80,094,177	D30V	probably damaging	Het
Best3	G	A	10: 117,007,627	D303N	probably damaging	Het
Bmp2k	G	C	5: 97,087,736		probably benign	Het
Btc	A	T	5: 91,366,145	V86E	probably damaging	Het
C530008M17Rik	A	C	5: 76,841,734		probably benign	Het
Cacna2d4	G	T	6: 119,281,698	A582S	probably benign	Het
Carm1	A	G	9: 21,575,302		probably benign	Het
Catsperg1	A	T	7: 29,206,615	S180T	probably damaging	Het
Ccdc185	A	T	1: 182,747,482	H547Q	probably benign	Het
Ccl6	A	G	11: 83,588,832	I115T	possibly damaging	Het
Cd44	C	T	2: 102,824,303	V470M	probably damaging	Het
Cdc25a	T	C	9: 109,889,793	V354A	probably damaging	Het
Cdhr2	C	A	13: 54,734,019	Q1122K	probably benign	Het
Cep290	A	G	10: 100,551,830	K1958E	probably damaging	Het
Cfap53	C	T	18: 74,359,740	P512S	possibly damaging	Het
Chrdl2	A	T	7: 100,009,993		probably benign	Het
Clec7a	A	T	6: 129,465,467	F199Y	probably damaging	Het
Dhx29	A	G	13: 112,964,468	K1182E	probably benign	Het
Dnah11	G	T	12: 117,914,636		probably null	Het
Dnmt3a	A	G	12: 3,866,096	S94G	possibly damaging	Het
Egfem1	T	C	3: 29,582,928	V42A	possibly damaging	Het
Eif3e	T	A	15: 43,275,332		probably null	Het
Exosc9	T	A	3: 36,555,625		probably benign	Het
Fam92a	A	G	4: 12,171,919		probably benign	Het
Fbxw18	T	A	9: 109,700,081	T135S	probably damaging	Het
Fbxw21	T	C	9: 109,143,825	E347G	possibly damaging	Het
Gcm2	A	G	13: 41,103,398	Y292H	probably benign	Het
Gltpd2	C	A	11: 70,519,353	Q46K	probably benign	Het
Gm6741	A	G	17: 91,237,100	Y97C	probably damaging	Het
Golgb1	T	C	16: 36,911,987	L532S	probably damaging	Het
Hdac3	C	T	18: 37,941,341		probably benign	Het
Helz2	A	T	2: 181,230,384	F2554L	possibly damaging	Het
Hmbox1	T	A	14: 64,823,673	H384L	possibly damaging	Het
Hmcn1	G	T	1: 150,598,897	D4746E	possibly damaging	Het
Il17rb	C	A	14: 30,004,275		probably null	Het
Irak2	A	T	6: 113,676,626	I252F	probably damaging	Het
Khnyn	C	T	14: 55,885,887	R33C	probably damaging	Het
Ksr1	G	A	11: 79,059,719	P20L	probably damaging	Het
Lamc3	T	C	2: 31,921,709	Y903H	probably benign	Het
Miga2	T	C	2: 30,368,863		probably benign	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Ncoa4	T	C	14: 32,166,721		probably null	Het
Nphp3	T	C	9: 104,035,797	Y925H	probably benign	Het
Nr2c1	T	G	10: 94,188,193	L420R	probably damaging	Het
Olfr203	G	A	16: 59,303,158	E2K	probably damaging	Het
Olfr74	T	A	2: 87,974,036	S210C	probably benign	Het
Olfr857	A	T	9: 19,713,753	T309S	probably benign	Het
Onecut1	A	G	9: 74,862,784	N163S	probably benign	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Per2	C	T	1: 91,444,651	V234I	probably damaging	Het
Pign	A	G	1: 105,558,067	V735A	possibly damaging	Het
Plekha7	T	C	7: 116,128,574	K85R	probably benign	Het
Pnma2	C	T	14: 66,916,874	T249I	probably benign	Het
Polr2b	A	G	5: 77,345,342	D1057G	probably damaging	Het
Polrmt	A	T	10: 79,740,352	L519H	probably damaging	Het
Ptar1	T	C	19: 23,717,913	I248T	probably benign	Het
Ptprh	A	C	7: 4,573,508	L251R	probably damaging	Het
Purg	T	C	8: 33,386,952	M206T	probably benign	Het
Riok3	T	A	18: 12,153,018	H434Q	probably benign	Het
Sorbs2	A	G	8: 45,763,183	I187V	probably damaging	Het
Tbc1d2b	T	C	9: 90,219,144	I598V	probably benign	Het
Tdg	T	A	10: 82,641,370	V85E	probably benign	Het
Tfb1m	C	T	17: 3,543,147	V166I	probably benign	Het
Tmem163	A	T	1: 127,491,646	M274K	probably damaging	Het
Tpr	T	C	1: 150,428,127	I1343T	probably benign	Het
Ttn	T	A	2: 76,889,450		probably benign	Het
Usp34	A	G	11: 23,436,040	T2156A	probably damaging	Het
Vmn1r215	A	T	13: 23,076,317	T176S	possibly damaging	Het
Vps52	C	T	17: 33,961,126	P268L	possibly damaging	Het
Xbp1	G	A	11: 5,523,514		probably benign	Het
Ythdc2	T	A	18: 44,833,205	F169L	probably benign	Het
Zcchc6	G	A	13: 59,822,066	A5V	probably benign	Het
Zfyve16	T	C	13: 92,522,117	R429G	probably benign	Het
Zzef1	A	G	11: 72,912,852	E2504G	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGACCAAACTACAATGGGC -3'
(R):5'- CACTTCCACTTCAAGGGCTC -3'

Sequencing Primer
(F):5'- ACTACAATGGGCTCATGGC -3'
(R):5'- TTCTCTCCCGATGGCAGGTAAG -3'

Posted On

2017-02-28