Mutagenetix > Incidental Mutation

Incidental Mutation 'R9367:Pwp2'

709065

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?

Probably essential (E-score: 0.780) question?

Stock #

R9367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78006743-78020983 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 78014827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 386 (Q386*)

Ref Sequence

ENSEMBL: ENSMUSP00000045812 (fasta)

Gene Model

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

AlphaFold

Q8BU03

Predicted Effect

probably null
Transcript: ENSMUST00000042556
AA Change: Q386*

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: Q386*

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
4930568D16Rik	A	T	2: 35,244,939 (GRCm39)	Y138N	probably benign	Het
Abca4	T	C	3: 121,838,197 (GRCm39)	M1T	probably null	Het
Acer3	A	G	7: 97,908,621 (GRCm39)	V104A	probably damaging	Het
Agpat4	A	G	17: 12,435,597 (GRCm39)	E287G	probably benign	Het
Akip1	C	T	7: 109,308,156 (GRCm39)	A146V	unknown	Het
Ank2	T	C	3: 126,738,678 (GRCm39)	N2402S	unknown	Het
Arhgdig	A	T	17: 26,418,451 (GRCm39)	Y177*	probably null	Het
Arhgef38	T	A	3: 132,847,998 (GRCm39)	T355S	unknown	Het
Atp8a2	C	A	14: 60,249,827 (GRCm39)		probably null	Het
Atp8b4	A	G	2: 126,216,430 (GRCm39)	I672T	probably damaging	Het
Baat	T	A	4: 49,503,008 (GRCm39)	D38V	probably damaging	Het
Bcl9	T	C	3: 97,117,861 (GRCm39)	S278G	probably benign	Het
Ccdc150	C	T	1: 54,324,760 (GRCm39)	L350F	probably damaging	Het
Ceacam20	T	G	7: 19,705,533 (GRCm39)	S175A	probably damaging	Het
Chd6	A	T	2: 160,871,784 (GRCm39)	I217K	possibly damaging	Het
Cnppd1	T	C	1: 75,117,617 (GRCm39)	I35V	probably benign	Het
Col15a1	T	C	4: 47,245,603 (GRCm39)	I118T	probably damaging	Het
Csmd3	A	T	15: 47,567,564 (GRCm39)	Y1289N		Het
Dio2	T	C	12: 90,696,587 (GRCm39)	T134A	probably benign	Het
Dnaaf9	A	T	2: 130,581,380 (GRCm39)	N678K	probably benign	Het
Dnah17	A	G	11: 117,987,464 (GRCm39)	V1282A	possibly damaging	Het
Dnah17	A	G	11: 118,012,212 (GRCm39)	S517P	possibly damaging	Het
Dync2h1	C	T	9: 7,125,730 (GRCm39)		probably null	Het
Echdc2	C	A	4: 108,036,111 (GRCm39)	P274Q	probably damaging	Het
Fam117a	T	A	11: 95,271,570 (GRCm39)	C381S	probably damaging	Het
Fbxl12	A	G	9: 20,550,130 (GRCm39)	F122S	probably damaging	Het
Gen1	G	A	12: 11,291,309 (GRCm39)	Q892*	probably null	Het
Gimap4	A	G	6: 48,667,746 (GRCm39)	Y167C	probably damaging	Het
Gle1	T	A	2: 29,839,014 (GRCm39)	F476L	probably damaging	Het
Gpr135	A	T	12: 72,117,473 (GRCm39)	V98E	possibly damaging	Het
Greb1l	A	T	18: 10,522,130 (GRCm39)	H742L	probably benign	Het
Habp2	G	T	19: 56,304,781 (GRCm39)	C392F	probably damaging	Het
Hapln3	G	T	7: 78,771,455 (GRCm39)	R145S	probably damaging	Het
Ikbkb	A	G	8: 23,171,711 (GRCm39)	C179R	probably damaging	Het
Kat6a	A	T	8: 23,400,156 (GRCm39)	I306L	possibly damaging	Het
Lmo3	A	T	6: 138,342,958 (GRCm39)	Y140*	probably null	Het
Lrrc32	T	A	7: 98,148,937 (GRCm39)	N572K	probably damaging	Het
Lrrn1	T	A	6: 107,545,093 (GRCm39)	M297K	probably damaging	Het
Magi2	G	A	5: 20,766,308 (GRCm39)	V676I	probably damaging	Het
Mdga1	T	C	17: 30,051,282 (GRCm39)	*957W	probably null	Het
Mip	G	T	10: 128,063,029 (GRCm39)	G158V	probably damaging	Het
Mmp14	T	C	14: 54,677,960 (GRCm39)	I527T	probably benign	Het
Mmp27	G	A	9: 7,573,550 (GRCm39)	G188D	probably damaging	Het
Mylk4	A	T	13: 32,960,236 (GRCm39)	C17S	possibly damaging	Het
Naa50	T	G	16: 43,977,554 (GRCm39)	I94R	probably damaging	Het
Nyap1	A	T	5: 137,734,248 (GRCm39)	Y262N	probably damaging	Het
Obsl1	A	G	1: 75,466,177 (GRCm39)	V1517A	probably benign	Het
P4htm	T	A	9: 108,459,147 (GRCm39)	M262L	probably benign	Het
Pappa2	T	C	1: 158,784,542 (GRCm39)	E156G	probably benign	Het
Pcdhb15	A	T	18: 37,607,971 (GRCm39)	Y401F	possibly damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Penk	C	T	4: 4,134,097 (GRCm39)	M183I	probably benign	Het
Pole	T	C	5: 110,444,955 (GRCm39)	V437A	probably damaging	Het
Ppp1r7	T	C	1: 93,279,262 (GRCm39)	I114T	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rad17	A	T	13: 100,769,720 (GRCm39)	S280T	possibly damaging	Het
Rhebl1	C	T	15: 98,776,414 (GRCm39)	E128K	possibly damaging	Het
Sema3e	G	T	5: 14,291,084 (GRCm39)	V615L	probably benign	Het
Slc22a2	A	T	17: 12,824,837 (GRCm39)	Y233F	probably benign	Het
Ssu2	A	G	6: 112,357,975 (GRCm39)	S123P	probably damaging	Het
Stk10	A	G	11: 32,538,878 (GRCm39)	E239G		Het
Surf6	G	T	2: 26,782,380 (GRCm39)	Q316K	probably damaging	Het
Tcerg1	G	A	18: 42,685,573 (GRCm39)	D637N	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tnxb	C	A	17: 34,931,993 (GRCm39)	F2175L	probably damaging	Het
Trp53i11	G	C	2: 93,029,273 (GRCm39)	V91L	probably benign	Het
Tspan9	A	G	6: 127,944,102 (GRCm39)	V66A	probably damaging	Het
Usp16	C	T	16: 87,261,669 (GRCm39)	T95M	probably benign	Het
Usp9y	A	T	Y: 1,324,982 (GRCm39)	F1691Y	probably damaging	Het
Uty	A	T	Y: 1,099,584 (GRCm39)	L1204I	possibly damaging	Het
Vmn1r192	A	T	13: 22,371,800 (GRCm39)	V140D	possibly damaging	Het
Vps54	T	C	11: 21,250,234 (GRCm39)	V552A	probably benign	Het
Vps8	T	C	16: 21,340,668 (GRCm39)	V804A	possibly damaging	Het
Zfp869	A	C	8: 70,161,057 (GRCm39)	L33R	probably damaging	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
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
Z1177:Pwp2	UTSW	10	78,007,808 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGGATACTTGGACCCTCTC -3'
(R):5'- CAGACCTGACTGACTGTGTC -3'

Sequencing Primer
(F):5'- GGACCCTCTCCATTCAAAGTC -3'
(R):5'- GGATACACTGTCCCATGCCATG -3'

Posted On

2022-04-18