Mutagenetix > Incidental Mutation

Incidental Mutation 'R1636:Pwwp2b'

173166

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2b

Ensembl Gene

ENSMUSG00000060260

Gene Name

PWWP domain containing 2B

Synonyms

D930023J19Rik, Pwwp2, D7Ertd517e

MMRRC Submission

039672-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139248482-139269903 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139254842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 66 (H66Q)

Ref Sequence

ENSEMBL: ENSMUSP00000091529 (fasta)

Gene Model

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

AlphaFold

E9Q9M8

Predicted Effect

probably benign
Transcript: ENSMUST00000093993
AA Change: H66Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: H66Q

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: H66Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: H66Q

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

0.1038

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

96% (85/89)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,654,612	L623M	probably benign	Het
Abca7	A	G	10: 80,008,998	H1518R	probably benign	Het
Adam4	A	G	12: 81,419,690	L719S	probably damaging	Het
Adprm	T	C	11: 67,041,723	Y120C	possibly damaging	Het
Arhgap25	T	A	6: 87,495,941	Y78F	probably damaging	Het
Asap1	G	A	15: 64,123,912	P665L	probably damaging	Het
Bank1	T	C	3: 136,083,226	K637R	probably damaging	Het
BC005561	T	A	5: 104,520,750	M1046K	probably damaging	Het
Bcr	T	A	10: 75,131,066	L502M	probably damaging	Het
Brwd1	A	G	16: 96,059,641	L315P	probably damaging	Het
Btbd7	A	T	12: 102,793,851	Y613N	probably damaging	Het
Cdca7l	G	A	12: 117,876,928	R395H	probably damaging	Het
Cftr	T	A	6: 18,226,157	I368K	probably damaging	Het
D6Wsu163e	T	C	6: 126,946,601	V150A	possibly damaging	Het
Ddx52	A	G	11: 83,955,343	T470A	probably damaging	Het
Def6	A	G	17: 28,223,918	E316G	possibly damaging	Het
Dip2a	A	T	10: 76,321,578	N64K	probably benign	Het
Dlgap4	G	T	2: 156,746,077	E631*	probably null	Het
Dner	T	C	1: 84,585,330	K190E	possibly damaging	Het
Eif2b4	T	A	5: 31,192,266		probably null	Het
Eif3a	A	T	19: 60,781,905	D119E	possibly damaging	Het
Ercc2	C	T	7: 19,387,124	T276M	possibly damaging	Het
Exoc1	A	G	5: 76,568,118	K830R	probably benign	Het
F2r	G	T	13: 95,603,892	Y378*	probably null	Het
Fam186a	G	A	15: 99,941,658	T2235I	unknown	Het
Fmo3	T	G	1: 162,954,425	K453T	probably benign	Het
Fzd3	A	T	14: 65,253,106	D9E	probably benign	Het
Galns	A	G	8: 122,604,216		probably benign	Het
Gm1818	T	C	12: 48,555,767		noncoding transcript	Het
Gm9955	C	A	18: 24,709,230		probably benign	Het
Immp2l	T	C	12: 41,703,687	V113A	probably damaging	Het
Iyd	T	A	10: 3,545,588	M82K	possibly damaging	Het
Kif21a	A	T	15: 90,984,805		probably benign	Het
Lipf	A	G	19: 33,976,535	D342G	probably damaging	Het
Lmbrd1	C	A	1: 24,746,930	Y435*	probably null	Het
Mpped1	C	T	15: 83,791,990		probably benign	Het
Mtrf1l	A	G	10: 5,813,265	S355P	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Neo1	T	C	9: 58,913,277	S788G	probably damaging	Het
Nfx1	T	G	4: 41,016,072		probably null	Het
Nlrp4c	T	C	7: 6,066,738	V546A	possibly damaging	Het
Nwd2	G	A	5: 63,807,557	V1495M	probably damaging	Het
Oaf	T	A	9: 43,239,324	I84F	probably benign	Het
Obscn	A	G	11: 59,122,637	F1153S	probably damaging	Het
Ofcc1	A	T	13: 40,180,428	C396S	possibly damaging	Het
Olfr576	T	G	7: 102,965,691	I197S	possibly damaging	Het
Olfr955	T	C	9: 39,469,919	D269G	probably benign	Het
Omg	A	G	11: 79,502,340	S231P	probably benign	Het
Pdcl3	A	G	1: 38,994,935	T53A	possibly damaging	Het
Pik3r2	A	T	8: 70,771,898	H244Q	probably benign	Het
Pinx1	A	T	14: 63,866,137	H55L	probably damaging	Het
Rell2	A	G	18: 37,958,079	D99G	probably damaging	Het
Reln	G	A	5: 21,998,683	A1191V	probably damaging	Het
Rprm	T	C	2: 54,085,304	M1V	probably null	Het
Sav1	A	C	12: 69,984,495	H84Q	probably benign	Het
Scamp5	T	C	9: 57,451,409	D28G	possibly damaging	Het
Selenbp2	G	A	3: 94,696,815	G9D	probably damaging	Het
Sh3tc2	T	C	18: 61,989,721	W518R	probably damaging	Het
Slc10a6	A	T	5: 103,629,146	N29K	probably benign	Het
Spindoc	C	A	19: 7,374,557	D142Y	probably damaging	Het
Spink12	T	A	18: 44,107,728	D60E	probably benign	Het
Sugt1	A	G	14: 79,587,982	I23V	probably benign	Het
Syne2	T	C	12: 76,004,732	C4079R	probably benign	Het
Tex15	T	G	8: 33,576,387	Y1948*	probably null	Het
Tln2	T	C	9: 67,306,532	E321G	probably damaging	Het
Tmem198b	A	G	10: 128,802,196	L166P	probably damaging	Het
Tspear	T	A	10: 77,870,419	L341H	possibly damaging	Het
Ttn	T	A	2: 76,900,222		probably benign	Het
Unc13a	G	A	8: 71,653,390	T690I	probably damaging	Het
Ush2a	T	C	1: 188,466,176	I1479T	possibly damaging	Het
Vcan	G	A	13: 89,703,667	T1058I	possibly damaging	Het
Vmn1r84	T	C	7: 12,362,595	Q45R	probably benign	Het
Vmn2r111	T	C	17: 22,571,399	N209D	probably damaging	Het
Wbp1l	A	G	19: 46,644,444	Y40C	probably damaging	Het
Wdr72	A	T	9: 74,179,625	H625L	probably benign	Het
Zeb2	T	C	2: 45,002,611	Y195C	probably damaging	Het
Zkscan6	C	T	11: 65,814,430		probably benign	Het
Zmym6	C	A	4: 127,123,767	H1022N	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
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
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'- TGTCACACAGGACATGTGGGGC -3'
(R):5'- GCACCCTCAAAGTATGGTGGAAAGG -3'

Sequencing Primer
(F):5'- caggcaggaaataagaggtgg -3'
(R):5'- AGGGAGGCAGGTTCCCG -3'

Posted On

2014-04-24