Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Pwwp2b'

661163

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2b

Ensembl Gene

ENSMUSG00000060260

Gene Name

PWWP domain containing 2B

Synonyms

D930023J19Rik, Pwwp2, D7Ertd517e

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139248482-139269903 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139256410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 589 (P589L)

Ref Sequence

ENSEMBL: ENSMUSP00000130888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093993] [ENSMUST00000172136]

AlphaFold

E9Q9M8

Predicted Effect

probably benign
Transcript: ENSMUST00000093993

SMART Domains

Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260

Domain	Start	End	E-Value	Type
low complexity region	105	120	N/A	INTRINSIC
low complexity region	145	165	N/A	INTRINSIC
low complexity region	234	245	N/A	INTRINSIC
low complexity region	305	319	N/A	INTRINSIC
low complexity region	381	401	N/A	INTRINSIC
low complexity region	457	468	N/A	INTRINSIC
PDB:4LD6\|A	485	506	4e-6	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000172136
AA Change: P589L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: P589L

Domain	Start	End	E-Value	Type
low complexity region	105	120	N/A	INTRINSIC
low complexity region	145	165	N/A	INTRINSIC
low complexity region	234	245	N/A	INTRINSIC
low complexity region	305	319	N/A	INTRINSIC
low complexity region	381	401	N/A	INTRINSIC
low complexity region	457	468	N/A	INTRINSIC
Pfam:PWWP	498	583	5.5e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	Het

Other mutations in Pwwp2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Pwwp2b	APN	7	139254855	nonsense	probably null
IGL02209:Pwwp2b	APN	7	139255105	missense	probably damaging	1.00
IGL02938:Pwwp2b	APN	7	139256143	missense	probably damaging	1.00
Conservative	UTSW	7	139255586	missense	probably benign	0.09
Edgy	UTSW	7	139256062	missense	possibly damaging	0.90
R0033:Pwwp2b	UTSW	7	139254928	missense	possibly damaging	0.87
R0033:Pwwp2b	UTSW	7	139254928	missense	possibly damaging	0.87
R1491:Pwwp2b	UTSW	7	139255963	missense	probably damaging	1.00
R1636:Pwwp2b	UTSW	7	139254842	missense	probably benign	0.00
R1672:Pwwp2b	UTSW	7	139254831	missense	probably benign
R1793:Pwwp2b	UTSW	7	139256365	missense	probably damaging	0.97
R2016:Pwwp2b	UTSW	7	139256151	missense	possibly damaging	0.91
R2159:Pwwp2b	UTSW	7	139254928	missense	possibly damaging	0.87
R2228:Pwwp2b	UTSW	7	139255188	missense	probably damaging	1.00
R2229:Pwwp2b	UTSW	7	139255188	missense	probably damaging	1.00
R2380:Pwwp2b	UTSW	7	139255450	missense	probably damaging	1.00
R3023:Pwwp2b	UTSW	7	139256194	missense	probably damaging	1.00
R3933:Pwwp2b	UTSW	7	139256034	missense	possibly damaging	0.66
R4440:Pwwp2b	UTSW	7	139255639	missense	probably benign	0.09
R4844:Pwwp2b	UTSW	7	139255586	missense	probably benign	0.09
R4873:Pwwp2b	UTSW	7	139256062	missense	possibly damaging	0.90
R4875:Pwwp2b	UTSW	7	139256062	missense	possibly damaging	0.90
R5022:Pwwp2b	UTSW	7	139255578	missense	possibly damaging	0.81
R5446:Pwwp2b	UTSW	7	139255150	missense	probably damaging	0.96
R5656:Pwwp2b	UTSW	7	139255971	missense	possibly damaging	0.93
R6465:Pwwp2b	UTSW	7	139256035	missense	probably benign	0.01
R6578:Pwwp2b	UTSW	7	139256112	missense	probably damaging	1.00
R6774:Pwwp2b	UTSW	7	139255987	missense	probably benign	0.13
R7218:Pwwp2b	UTSW	7	139256133	missense	probably damaging	1.00
R7316:Pwwp2b	UTSW	7	139256224	missense	probably benign	0.29
R7818:Pwwp2b	UTSW	7	139255324	missense	probably benign
R8249:Pwwp2b	UTSW	7	139254843	missense	probably damaging	0.99
R8319:Pwwp2b	UTSW	7	139255183	missense	probably damaging	0.99
R8785:Pwwp2b	UTSW	7	139256170	missense	possibly damaging	0.85
R9331:Pwwp2b	UTSW	7	139255441	missense	probably damaging	1.00
X0017:Pwwp2b	UTSW	7	139255806	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGTCCTTGACATCAGCCTTG -3'
(R):5'- GCAAGTGTTTAGGACAGCCC -3'

Sequencing Primer
(F):5'- TGACATCAGCCTTGGCCAGAAG -3'
(R):5'- GTTTAGGACAGCCCCCTTTGAG -3'

Posted On

2021-03-08