Mutagenetix > Incidental Mutation

Incidental Mutation 'R6848:Pwp2'

534872

Institutional Source

Beutler Lab

Gene Symbol

Pwp2

Ensembl Gene

ENSMUSG00000032834

Gene Name

PWP2 periodic tryptophan protein homolog (yeast)

Synonyms

Pwp2, Pwp2h, 6530411D08Rik

MMRRC Submission

045022-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R6848 (G1)

Quality Score

128.008

Status

Validated

Chromosome

Chromosomal Location

78006743-78020983 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 78020127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000042556

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,487 (GRCm39)	N290S	probably damaging	Het
Acox3	G	T	5: 35,749,528 (GRCm39)	G218C	probably damaging	Het
Acsf3	G	A	8: 123,517,329 (GRCm39)	G375D	probably damaging	Het
Adamts9	G	T	6: 92,840,335 (GRCm39)	N568K	possibly damaging	Het
Akr1cl	G	A	1: 65,063,928 (GRCm39)	T87I	probably damaging	Het
Brcc3dc	A	T	10: 108,535,451 (GRCm39)	V168E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Casp16	A	T	17: 23,770,053 (GRCm39)	C175*	probably null	Het
Cast	T	C	13: 74,844,052 (GRCm39)	K694R	possibly damaging	Het
Cep70	G	A	9: 99,144,954 (GRCm39)	R100H	probably benign	Het
Cep72	C	T	13: 74,186,395 (GRCm39)	A259T	possibly damaging	Het
Chsy1	T	A	7: 65,820,785 (GRCm39)	M340K	probably damaging	Het
Col27a1	T	C	4: 63,220,608 (GRCm39)	S182P	probably benign	Het
Crlf2	A	C	5: 109,704,897 (GRCm39)	F103V	possibly damaging	Het
Dync2h1	T	C	9: 7,159,632 (GRCm39)	N652S	probably benign	Het
Ephx4	G	A	5: 107,574,784 (GRCm39)	G274D	probably damaging	Het
Fer	T	A	17: 64,298,601 (GRCm39)	F517I	probably damaging	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gata3	T	A	2: 9,863,339 (GRCm39)	N392Y	possibly damaging	Het
Gria4	C	T	9: 4,793,822 (GRCm39)	V79M	probably damaging	Het
Grk3	A	C	5: 113,133,641 (GRCm39)	N60K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igf1r	T	G	7: 67,653,927 (GRCm39)	I155R	probably damaging	Het
Igsf9	T	C	1: 172,323,329 (GRCm39)	L681P	probably damaging	Het
Intu	T	C	3: 40,648,685 (GRCm39)	M789T	probably benign	Het
Kit	A	T	5: 75,767,872 (GRCm39)	Q85L	probably benign	Het
Klhdc2	T	A	12: 69,355,750 (GRCm39)	C325*	probably null	Het
Mcidas	A	G	13: 113,130,419 (GRCm39)	E5G	probably benign	Het
Mcm5	G	T	8: 75,853,918 (GRCm39)	R724L	possibly damaging	Het
Nrbp2	G	A	15: 75,963,332 (GRCm39)		probably benign	Het
Nrg1	A	G	8: 32,308,084 (GRCm39)	I655T	probably damaging	Het
Nsun4	T	C	4: 115,910,131 (GRCm39)	D143G	possibly damaging	Het
Opn3	C	T	1: 175,490,615 (GRCm39)	V349M	probably damaging	Het
Or51ag1	A	G	7: 103,155,664 (GRCm39)	V163A	possibly damaging	Het
Or5d47	A	T	2: 87,804,514 (GRCm39)	V165E	possibly damaging	Het
Or6d14	T	C	6: 116,533,736 (GRCm39)	S117P	probably damaging	Het
Pank2	C	A	2: 131,124,546 (GRCm39)	L297I	probably damaging	Het
Pcdh20	T	A	14: 88,704,690 (GRCm39)	E870V	probably benign	Het
Pdcd6	T	A	13: 74,457,959 (GRCm39)	M71L	possibly damaging	Het
Phkb	A	T	8: 86,756,246 (GRCm39)	I847F	probably damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Rbms3	A	G	9: 117,080,809 (GRCm39)	Y21H	probably damaging	Het
Rhbdl1	T	A	17: 26,055,158 (GRCm39)	K17*	probably null	Het
Rp1l1	C	A	14: 64,265,667 (GRCm39)	Q418K	possibly damaging	Het
Scpppq1	A	G	5: 104,222,603 (GRCm39)		probably benign	Het
Slc22a4	A	T	11: 53,898,615 (GRCm39)	V159E	possibly damaging	Het
Spata31d1a	T	C	13: 59,849,777 (GRCm39)	T784A	possibly damaging	Het
Tll1	A	G	8: 64,551,544 (GRCm39)	M279T	probably damaging	Het
Tmem163	A	T	1: 127,479,117 (GRCm39)	V134D	probably damaging	Het
Top2b	A	G	14: 16,409,958 (GRCm38)	N875S	possibly damaging	Het
Tpd52l1	T	C	10: 31,208,853 (GRCm39)	E205G	probably benign	Het
Tpsb2	T	A	17: 25,586,802 (GRCm39)	Y271*	probably null	Het
Ugt3a1	G	A	15: 9,280,138 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,801,840 (GRCm39)	M154V	probably benign	Het
Zfp740	T	G	15: 102,117,243 (GRCm39)	I89S	probably benign	Het

Other mutations in Pwp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01892:Pwp2	APN	10	78,014,841 (GRCm39)	missense	probably damaging	1.00
IGL02163:Pwp2	APN	10	78,014,119 (GRCm39)	missense	possibly damaging	0.82
IGL02280:Pwp2	APN	10	78,019,934 (GRCm39)	missense	probably damaging	0.99
IGL02558:Pwp2	APN	10	78,014,899 (GRCm39)	missense	probably damaging	1.00
IGL02560:Pwp2	APN	10	78,014,899 (GRCm39)	missense	probably damaging	1.00
IGL02583:Pwp2	APN	10	78,016,917 (GRCm39)	missense	probably benign
IGL02612:Pwp2	APN	10	78,018,828 (GRCm39)	missense	probably damaging	0.97
PIT4283001:Pwp2	UTSW	10	78,020,921 (GRCm39)	start codon destroyed	probably null	1.00
PIT4449001:Pwp2	UTSW	10	78,014,304 (GRCm39)	missense	probably benign	0.38
R0573:Pwp2	UTSW	10	78,018,520 (GRCm39)	missense	probably benign	0.37
R1835:Pwp2	UTSW	10	78,014,925 (GRCm39)	missense	probably damaging	1.00
R2097:Pwp2	UTSW	10	78,013,576 (GRCm39)	splice site	probably benign
R2251:Pwp2	UTSW	10	78,016,922 (GRCm39)	missense	probably benign	0.04
R2967:Pwp2	UTSW	10	78,018,532 (GRCm39)	missense	possibly damaging	0.94
R4909:Pwp2	UTSW	10	78,018,328 (GRCm39)	missense	possibly damaging	0.51
R4950:Pwp2	UTSW	10	78,018,840 (GRCm39)	missense	probably benign	0.00
R4970:Pwp2	UTSW	10	78,009,527 (GRCm39)	missense	possibly damaging	0.95
R5015:Pwp2	UTSW	10	78,018,527 (GRCm39)	missense	probably benign	0.23
R5355:Pwp2	UTSW	10	78,011,378 (GRCm39)	missense	possibly damaging	0.94
R5390:Pwp2	UTSW	10	78,013,605 (GRCm39)	missense	possibly damaging	0.63
R5416:Pwp2	UTSW	10	78,018,835 (GRCm39)	missense	probably damaging	1.00
R5841:Pwp2	UTSW	10	78,007,952 (GRCm39)	missense	probably benign	0.00
R5928:Pwp2	UTSW	10	78,018,290 (GRCm39)	missense	probably damaging	0.98
R6495:Pwp2	UTSW	10	78,012,961 (GRCm39)	missense	probably damaging	1.00
R6771:Pwp2	UTSW	10	78,018,222 (GRCm39)	splice site	probably null
R6897:Pwp2	UTSW	10	78,007,917 (GRCm39)	missense	probably damaging	1.00
R7060:Pwp2	UTSW	10	78,009,084 (GRCm39)	splice site	probably null
R7269:Pwp2	UTSW	10	78,012,170 (GRCm39)	missense	probably benign	0.30
R7367:Pwp2	UTSW	10	78,018,314 (GRCm39)	missense	probably damaging	1.00
R7368:Pwp2	UTSW	10	78,018,314 (GRCm39)	missense	probably damaging	1.00
R7394:Pwp2	UTSW	10	78,018,314 (GRCm39)	missense	probably damaging	1.00
R7728:Pwp2	UTSW	10	78,014,395 (GRCm39)	missense	probably benign	0.00
R7838:Pwp2	UTSW	10	78,018,778 (GRCm39)	critical splice donor site	probably null
R7898:Pwp2	UTSW	10	78,009,240 (GRCm39)	missense	probably damaging	1.00
R8072:Pwp2	UTSW	10	78,007,930 (GRCm39)	missense	possibly damaging	0.82
R8447:Pwp2	UTSW	10	78,007,873 (GRCm39)	missense	probably benign	0.10
R8750:Pwp2	UTSW	10	78,013,659 (GRCm39)	missense	probably damaging	1.00
R9302:Pwp2	UTSW	10	78,009,540 (GRCm39)	missense	probably benign	0.04
R9367:Pwp2	UTSW	10	78,014,827 (GRCm39)	nonsense	probably null
Z1177:Pwp2	UTSW	10	78,007,808 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGACTCTATTTCCCACGGG -3'
(R):5'- GCACTGATACTTAGCACGGTG -3'

Sequencing Primer
(F):5'- TATTTCCCACGGGGCTGATAACAG -3'
(R):5'- ATACTTAGCACGGTGGGCGTG -3'

Posted On

2018-09-12