Mutagenetix > Incidental Mutation

Incidental Mutation 'R7316:Pwwp2b'

567971

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2b

Ensembl Gene

ENSMUSG00000060260

Gene Name

PWWP domain containing 2B

Synonyms

D930023J19Rik, Pwwp2, D7Ertd517e

MMRRC Submission

045413-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139248482-139269903 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 139256224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 527 (E527A)

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 benign
Transcript: ENSMUST00000172136
AA Change: E527A

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: E527A

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

Meta Mutation Damage Score

0.0922

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (93/94)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,638	L394P	probably damaging	Het
4933434E20Rik	G	A	3: 90,061,713	M214I	probably benign	Het
Aadat	G	T	8: 60,526,634	G177C	probably damaging	Het
Adam4	T	C	12: 81,419,724	I708V	probably benign	Het
Aip	T	C	19: 4,114,793	N264S	probably benign	Het
Alox8	A	T	11: 69,186,238	D505E	probably benign	Het
Ap3d1	A	T	10: 80,717,859	I518N	probably damaging	Het
Arf3	G	A	15: 98,740,993	Q128*	probably null	Het
Asph	A	G	4: 9,537,746	V344A	probably benign	Het
Birc6	A	T	17: 74,604,494	R1500S	probably damaging	Het
Bptf	G	A	11: 107,073,109	T1753I	probably damaging	Het
Bptf	A	T	11: 107,110,914	C457*	probably null	Het
Brpf3	T	A	17: 28,814,686	I568N	probably damaging	Het
Btnl4	G	C	17: 34,469,057	N582K	probably benign	Het
Camsap3	C	A	8: 3,604,648	P773T	possibly damaging	Het
Capsl	A	T	15: 9,461,802	I95L	probably benign	Het
Cd96	T	A	16: 46,069,653	M336L	probably benign	Het
Cdan1	A	T	2: 120,728,332		probably null	Het
Chd3	A	T	11: 69,345,568	L1939Q	probably damaging	Het
Cngb3	A	T	4: 19,425,599	Y469F	probably benign	Het
Cp	T	C	3: 19,972,752	L448P	probably damaging	Het
Csnk1g2	T	C	10: 80,639,853	V418A	possibly damaging	Het
Dag1	A	T	9: 108,209,502	S147T	probably benign	Het
Dnajc25	T	A	4: 59,017,693	Y117*	probably null	Het
Dpysl2	A	T	14: 66,862,595	M64K	possibly damaging	Het
Dus3l	A	G	17: 56,765,551	H38R	possibly damaging	Het
E330021D16Rik	T	C	6: 136,401,278	K185E	possibly damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Enox1	A	T	14: 77,720,858	M616L	probably benign	Het
Epb41l4b	T	A	4: 57,019,867	T708S	probably benign	Het
Fam71f2	A	G	6: 29,286,102	M187V	probably benign	Het
Fat2	A	T	11: 55,286,067	I1534N	probably damaging	Het
Fer1l5	A	G	1: 36,418,116	T1649A	probably benign	Het
Fmo9	A	G	1: 166,663,646	V421A	probably benign	Het
Fsip2	A	C	2: 82,989,691	Y5256S	possibly damaging	Het
Gapvd1	G	A	2: 34,704,669	L804F	probably damaging	Het
Gen1	A	G	12: 11,241,469	V838A	probably benign	Het
Gnptab	A	T	10: 88,400,710	N59I	probably damaging	Het
Grm5	A	G	7: 87,975,265	T347A	probably benign	Het
Gsdmc3	T	C	15: 63,858,402	N438D	possibly damaging	Het
Hmcn1	A	G	1: 150,732,946	L1495S	probably damaging	Het
Islr2	T	C	9: 58,197,967	E714G	probably damaging	Het
Larp4	A	T	15: 100,001,017	M430L	probably benign	Het
Lpcat2b	A	G	5: 107,433,113	I103V	not run	Het
Lrguk	C	T	6: 34,103,256	S1142F	unknown	Het
Lrit2	G	T	14: 37,068,858	V165F	probably damaging	Het
Mast3	T	A	8: 70,779,788	I1182F	probably damaging	Het
Mcm6	C	T	1: 128,359,508	D20N	probably damaging	Het
Mief1	A	G	15: 80,249,397	I218M	probably damaging	Het
Mmp2	A	G	8: 92,840,410	T453A	probably benign	Het
Ms4a18	T	A	19: 11,001,996	S219C	probably damaging	Het
Myo5c	A	T	9: 75,269,638	T622S	probably benign	Het
Neb	A	T	2: 52,271,438	M2114K	possibly damaging	Het
Nemp1	T	A	10: 127,689,343	L122*	probably null	Het
Nkx2-1	T	C	12: 56,534,798	N88S	probably benign	Het
Nr2c2	T	A	6: 92,154,463	C202S	probably damaging	Het
Ntsr1	A	C	2: 180,500,752	D112A	probably damaging	Het
Olfr114	A	G	17: 37,590,135	S73P	probably damaging	Het
Olfr430	A	T	1: 174,070,161	I288F	probably benign	Het
Olfr680-ps1	A	T	7: 105,090,900	H246Q	probably damaging	Het
Osbp2	C	A	11: 3,726,431	R73L	probably damaging	Het
Pbp2	T	A	6: 135,309,832	E172D	probably damaging	Het
Pcdhgc3	T	C	18: 37,808,448	I634T	probably benign	Het
Pcnx	T	C	12: 81,995,549	S38P	probably benign	Het
Phyh	A	T	2: 4,936,044	K252*	probably null	Het
Plcb3	C	T	19: 6,966,385		probably null	Het
Ppargc1b	T	C	18: 61,307,838	S670G	probably damaging	Het
Ptprc	T	C	1: 138,064,771	Y1067C	probably damaging	Het
Pzp	T	C	6: 128,513,773	D409G	probably damaging	Het
Rbfox2	A	T	15: 77,132,729	N148K	possibly damaging	Het
Rps24	T	C	14: 24,490,689		probably benign	Het
Slc35e4	T	C	11: 3,912,584	K202E	probably damaging	Het
Spata7	C	T	12: 98,658,612	R258W	probably damaging	Het
Spen	A	T	4: 141,477,054	S1421T	unknown	Het
Svep1	T	A	4: 58,068,763	I3008F	possibly damaging	Het
Tbc1d1	G	T	5: 64,335,277		probably null	Het
Thsd4	T	A	9: 59,987,359	H772L	probably benign	Het
Tle1	T	C	4: 72,118,292	I769V	probably benign	Het
Tm4sf19	T	A	16: 32,407,648	S127T	possibly damaging	Het
Tmprss9	C	A	10: 80,894,979	R780S	probably benign	Het
Tpp2	T	C	1: 43,970,431	V475A	probably benign	Het
Ttc30a1	A	T	2: 75,980,857	L294Q	probably damaging	Het
Ttn	A	T	2: 76,766,913	N19885K	probably damaging	Het
Ttn	A	G	2: 76,862,165	V471A		Het
Tub	A	T	7: 109,030,171	T478S	possibly damaging	Het
Vmn2r88	A	T	14: 51,414,255	Y342F		Het
Wdr18	C	A	10: 79,965,225	D157E	probably benign	Het
Xrra1	A	T	7: 99,876,216		probably null	Het
Zc3h4	G	C	7: 16,435,335	G1198A	unknown	Het
Zfp568	A	T	7: 30,022,256	I209F	possibly damaging	Het
Zfp787	C	A	7: 6,155,524		probably benign	Het
Zfp974	A	T	7: 27,910,438	Y621N	possibly damaging	Het
Zyg11b	A	G	4: 108,250,502	I493T	possibly 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
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
R8671:Pwwp2b	UTSW	7	139256410	missense	probably damaging	1.00
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'- AGGAGACCTGTCATCTGGTG -3'
(R):5'- CTTATTTCTGGGGCCACGTG -3'

Sequencing Primer
(F):5'- ATCTTCTGCTGACACTCGCCAG -3'
(R):5'- GTTGTGTGGCATTTGCAGCC -3'

Posted On

2019-06-26