Mutagenetix > Incidental Mutation

Incidental Mutation 'R6897:Pwp2'

538402

Institutional Source

Beutler Lab

Gene Symbol

Pwp2

Ensembl Gene

ENSMUSG00000032834

Gene Name

PWP2 periodic tryptophan protein homolog (yeast)

Synonyms

Pwp2, Pwp2h, 6530411D08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R6897 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78170909-78185149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78172083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 879 (Q879H)

Ref Sequence

ENSEMBL: ENSMUSP00000045812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001242] [ENSMUST00000042556] [ENSMUST00000219120]

AlphaFold

Q8BU03

Predicted Effect

probably benign
Transcript: ENSMUST00000001242

SMART Domains

Protein: ENSMUSP00000001242
Gene: ENSMUSG00000053329

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
SCOP:d1cf9a1	40	239	3e-21	SMART
PDB:1OY1\|D	42	263	2e-58	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000042556
AA Change: Q879H

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

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: Q879H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219120

Predicted Effect

probably benign
Transcript: ENSMUST00000220359

Meta Mutation Damage Score

0.1285

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	T	A	6: 50,589,165	Q110L	possibly damaging	Het
4930579F01Rik	T	C	3: 138,183,773	I28V	possibly damaging	Het
Adamts2	A	T	11: 50,737,164		probably null	Het
Adgrg1	T	C	8: 95,002,498	F17L	probably benign	Het
Aldob	A	G	4: 49,539,789	L183P	probably damaging	Het
Alg5	T	C	3: 54,748,642	C270R	probably benign	Het
Anxa4	T	A	6: 86,743,178		probably null	Het
Armc2	C	A	10: 41,993,229		probably null	Het
Atrnl1	A	G	19: 58,042,368	N1314S	probably benign	Het
Bbs7	T	A	3: 36,598,311	E331V	probably benign	Het
Bmper	T	A	9: 23,373,929	V258E	probably benign	Het
Catspere2	A	T	1: 178,111,573	I671F	possibly damaging	Het
Cd101	A	G	3: 101,013,060	S508P	probably damaging	Het
Cd177	C	T	7: 24,745,074	R694H	probably benign	Het
Clptm1	C	A	7: 19,635,826	Q386H	possibly damaging	Het
Cnrip1	A	G	11: 17,054,705	Y85C	probably damaging	Het
Dclk2	A	T	3: 86,831,763	F310I	probably benign	Het
Dmxl1	A	G	18: 49,851,495	K186R	probably null	Het
Dmxl1	C	A	18: 49,863,057	Q417K	possibly damaging	Het
Eloa	T	C	4: 136,012,909	D67G	possibly damaging	Het
Elovl4	T	C	9: 83,783,225	I103V	probably benign	Het
Gabpa	C	G	16: 84,860,473	A412G	probably benign	Het
Gldn	T	A	9: 54,334,874		probably null	Het
Ino80d	A	T	1: 63,065,834	I361N	probably damaging	Het
Kalrn	G	A	16: 33,975,703	T1234M	probably damaging	Het
Kcnk13	T	A	12: 100,061,767	M367K	probably benign	Het
Klrd1	G	A	6: 129,593,505	R8Q	possibly damaging	Het
Kmt2a	T	C	9: 44,847,645	N969S	probably benign	Het
Lgi4	A	G	7: 31,068,890	D438G	probably benign	Het
Lig1	T	C	7: 13,305,914	L684P	probably damaging	Het
Lrp2	T	C	2: 69,510,502	M1010V	probably benign	Het
Magi3	C	A	3: 104,089,557	R224I	probably damaging	Het
Mier2	T	C	10: 79,544,739	N277S	probably damaging	Het
Morn1	A	G	4: 155,086,655	H17R	probably benign	Het
Nf2	A	T	11: 4,799,878	S265T	probably damaging	Het
Olfr1029	A	G	2: 85,975,356	T38A	possibly damaging	Het
Olfr1058	G	A	2: 86,385,680	T246I	possibly damaging	Het
Palb2	A	G	7: 122,127,047		probably null	Het
Pdzd2	C	T	15: 12,385,865	V940M	probably damaging	Het
Phldb2	T	C	16: 45,777,775	K850E	probably damaging	Het
Pitx1	G	A	13: 55,828,522	T108M	probably damaging	Het
Polr2a	C	T	11: 69,735,961	A1516T	probably benign	Het
Pomp	T	A	5: 147,875,503	M133K	possibly damaging	Het
Prex1	T	C	2: 166,581,993	E993G	probably damaging	Het
Prrc2c	C	A	1: 162,705,506		probably benign	Het
Rab26	G	A	17: 24,529,792	T245I	probably damaging	Het
Rapgef1	A	G	2: 29,702,502	D502G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Sema5a	T	A	15: 32,550,275	D153E	probably benign	Het
Sez6	C	G	11: 77,953,559	H69Q	probably damaging	Het
Sgsm3	A	T	15: 81,008,894	T391S	probably benign	Het
Sh3rf2	T	C	18: 42,101,605	V151A	possibly damaging	Het
Socs1	G	T	16: 10,784,402	A157E	probably benign	Het
Sptbn4	C	A	7: 27,371,950	V346L	possibly damaging	Het
Srgap1	T	A	10: 121,785,618	H990L	probably damaging	Het
Tbc1d9	G	T	8: 83,166,180	G36W	probably damaging	Het
Tbk1	T	C	10: 121,559,877	E437G	probably benign	Het
Tns3	A	G	11: 8,531,743	L203P	probably damaging	Het
Tspoap1	A	T	11: 87,765,812	K283M	probably damaging	Het
Ttyh1	C	T	7: 4,124,650		probably benign	Het
Ufd1	T	A	16: 18,827,100	I254N	probably benign	Het
Ugdh	T	G	5: 65,427,433	T49P	probably benign	Het
Vav3	T	C	3: 109,527,494	L447P	probably damaging	Het
Vmn1r216	A	T	13: 23,099,275	K43*	probably null	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r13	A	G	5: 109,158,149	I521T	possibly damaging	Het
Wdfy3	T	C	5: 101,844,066	T3470A	probably benign	Het
Wdhd1	T	A	14: 47,248,130	K791N	probably damaging	Het
Xirp2	A	G	2: 67,508,567	D384G	probably damaging	Het
Zfp512b	C	T	2: 181,590,480	R86Q	probably damaging	Het
Zfp735	A	C	11: 73,711,054	I275L	probably benign	Het
Zfp957	A	T	14: 79,213,904	S152T	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
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
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'- GCACAGTGGTTTCATCTCCAG -3'
(R):5'- CAGTGGAATGCCTCTGTAATGG -3'

Sequencing Primer
(F):5'- GGTTTCATCTCCAGCCAATCAGG -3'
(R):5'- ATGCCTCTGTAATGGAAGGGCC -3'

Posted On

2018-11-06