Mutagenetix > Incidental Mutation

Incidental Mutation 'R0573:Pwp2'

46537

Institutional Source

Beutler Lab

Gene Symbol

Pwp2

Ensembl Gene

ENSMUSG00000032834

Gene Name

PWP2 periodic tryptophan protein homolog (yeast)

Synonyms

Pwp2, Pwp2h, 6530411D08Rik

MMRRC Submission

038763-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R0573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78006743-78020983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78018520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 88 (S88L)

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 benign
Transcript: ENSMUST00000042556
AA Change: S88L

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: S88L

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,455,278 (GRCm39)	K698N	possibly damaging	Het
Adcy8	A	T	15: 64,694,044 (GRCm39)	V411D	probably damaging	Het
Arfgef3	T	A	10: 18,475,036 (GRCm39)	E1550V	probably damaging	Het
Asb3	T	A	11: 31,011,406 (GRCm39)	I306K	probably damaging	Het
Asic4	T	A	1: 75,445,746 (GRCm39)		probably benign	Het
Basp1	G	T	15: 25,364,948 (GRCm39)	D16E	unknown	Het
Cbll1	A	T	12: 31,540,539 (GRCm39)	I123N	probably damaging	Het
Ccdc141	A	T	2: 76,869,837 (GRCm39)	H889Q	probably benign	Het
Ccdc65	T	C	15: 98,618,930 (GRCm39)	V303A	probably benign	Het
Ceacam20	T	A	7: 19,720,593 (GRCm39)	M60K	probably damaging	Het
Chd9	T	A	8: 91,725,223 (GRCm39)	V711D	probably damaging	Het
Clcn1	T	A	6: 42,289,979 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,962,268 (GRCm39)		probably benign	Het
Col4a3	C	A	1: 82,694,084 (GRCm39)	P1568Q	possibly damaging	Het
Colec12	C	A	18: 9,858,650 (GRCm39)	P478T	probably damaging	Het
Dchs1	T	C	7: 105,407,985 (GRCm39)	H1949R	probably damaging	Het
Dgka	A	G	10: 128,572,876 (GRCm39)		probably null	Het
Dlgap4	A	G	2: 156,588,111 (GRCm39)	I669V	probably benign	Het
Dsg1c	T	A	18: 20,412,298 (GRCm39)	D543E	probably benign	Het
Egflam	A	T	15: 7,271,906 (GRCm39)	C677*	probably null	Het
Eml5	A	C	12: 98,791,031 (GRCm39)		probably null	Het
Fbn1	G	A	2: 125,231,169 (GRCm39)	R466C	probably damaging	Het
Fnbp1	C	A	2: 30,948,990 (GRCm39)	D198Y	probably damaging	Het
Gfra3	T	A	18: 34,824,668 (GRCm39)	M272L	probably benign	Het
Gm5422	T	A	10: 31,126,156 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,407,556 (GRCm39)	I34N	probably damaging	Het
Hspb2	G	T	9: 50,662,664 (GRCm39)	T155K	probably benign	Het
Il21r	A	G	7: 125,224,457 (GRCm39)	T24A	probably benign	Het
Mmadhc	T	A	2: 50,182,847 (GRCm39)	H43L	possibly damaging	Het
Morn1	T	A	4: 155,195,473 (GRCm39)	D278E	possibly damaging	Het
Myoc	T	C	1: 162,476,243 (GRCm39)	Y316H	probably damaging	Het
Nags	A	G	11: 102,037,805 (GRCm39)	D266G	probably damaging	Het
Nlrp4b	A	G	7: 10,448,142 (GRCm39)	N115S	probably benign	Het
Nlrp5	T	A	7: 23,117,056 (GRCm39)	I260N	probably damaging	Het
Obscn	G	A	11: 58,926,905 (GRCm39)	R6190C	probably damaging	Het
Or5b24	T	C	19: 12,912,624 (GRCm39)	V174A	possibly damaging	Het
Or5be3	A	G	2: 86,863,812 (GRCm39)	F251S	probably damaging	Het
Orc4	C	T	2: 48,807,285 (GRCm39)	M215I	probably benign	Het
Osbpl6	A	T	2: 76,420,735 (GRCm39)	H770L	probably damaging	Het
Otogl	A	C	10: 107,616,849 (GRCm39)	N1809K	probably benign	Het
Pde3a	G	T	6: 141,437,957 (GRCm39)	V1009L	probably damaging	Het
Pign	T	C	1: 105,580,902 (GRCm39)	Y159C	probably damaging	Het
Pik3cg	C	A	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnliprp1	C	T	19: 58,723,314 (GRCm39)	T235I	possibly damaging	Het
Pramel17	A	C	4: 101,692,611 (GRCm39)	V463G	probably damaging	Het
Prpf8	A	G	11: 75,381,480 (GRCm39)	N239D	probably damaging	Het
Psd2	T	A	18: 36,113,546 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,393,668 (GRCm39)	D1251G	probably damaging	Het
Rassf4	C	T	6: 116,624,516 (GRCm39)		probably benign	Het
Rexo1	A	G	10: 80,380,684 (GRCm39)	S884P	probably damaging	Het
Rgs20	C	A	1: 5,091,037 (GRCm39)	R131L	possibly damaging	Het
Setd4	A	G	16: 93,386,834 (GRCm39)	V288A	probably benign	Het
Stx3	G	T	19: 11,763,110 (GRCm39)	T160K	probably damaging	Het
Tas2r102	T	A	6: 132,739,636 (GRCm39)	S181R	probably damaging	Het
Tenm3	T	C	8: 49,127,434 (GRCm39)		probably benign	Het
Tmem33	T	C	5: 67,421,603 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,259,306 (GRCm39)		probably benign	Het
Trip11	A	G	12: 101,853,119 (GRCm39)	I491T	probably benign	Het
Trp53bp1	A	G	2: 121,058,653 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,193,017 (GRCm39)	D199G	probably benign	Het
Zcchc4	A	G	5: 52,953,321 (GRCm39)	Y110C	probably damaging	Het
Zp2	C	T	7: 119,734,693 (GRCm39)		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
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
R6848:Pwp2	UTSW	10	78,020,127 (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'- AACAAACGCATTGAACTCTCGCTTC -3'
(R):5'- GCTTCATAGCACAGGTTCCAGCAAC -3'

Sequencing Primer
(F):5'- GTTGCCCTTTGTGACAACG -3'
(R):5'- GGTTCCAGCAACCCACG -3'

Posted On

2013-06-11