Mutagenetix > Incidental Mutation

Incidental Mutation 'R2159:Pwwp2b'

235051

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2b

Ensembl Gene

ENSMUSG00000060260

Gene Name

PWWP domain containing 2B

Synonyms

D7Ertd517e, D930023J19Rik, Pwwp2

MMRRC Submission

040162-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R2159 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

138828398-138847172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138834844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 95 (D95V)

Ref Sequence

ENSEMBL: ENSMUSP00000130888 (fasta)

Gene Model

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

AlphaFold

E9Q9M8

Predicted Effect

probably benign
Transcript: ENSMUST00000093993
AA Change: D95V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: D95V

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

possibly damaging
Transcript: ENSMUST00000172136
AA Change: D95V

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: D95V

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,241 (GRCm39)	P174S	probably benign	Het
Aida	C	T	1: 183,103,234 (GRCm39)	P185S	probably benign	Het
Alg11	T	G	8: 22,555,861 (GRCm39)	I374R	probably benign	Het
Ano9	T	C	7: 140,688,030 (GRCm39)	I229V	probably benign	Het
Apob	A	T	12: 8,060,081 (GRCm39)	L2821F	probably benign	Het
Atp10b	C	T	11: 43,042,680 (GRCm39)	T80I	possibly damaging	Het
BC024139	T	C	15: 76,005,688 (GRCm39)	H478R	probably damaging	Het
Btbd1	A	T	7: 81,450,804 (GRCm39)	D325E	possibly damaging	Het
Camk2a	G	A	18: 61,090,257 (GRCm39)	C199Y	probably damaging	Het
Casp3	A	G	8: 47,087,323 (GRCm39)	D90G	probably damaging	Het
Ccnt2	A	G	1: 127,702,891 (GRCm39)	H71R	probably benign	Het
Cdk2ap1	G	A	5: 124,486,667 (GRCm39)	R65*	probably null	Het
Cebpb	G	T	2: 167,531,173 (GRCm39)	A78S	probably benign	Het
Col5a3	A	G	9: 20,682,606 (GRCm39)	F1613L	unknown	Het
Cpd	T	C	11: 76,688,467 (GRCm39)	D935G	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cwc27	A	G	13: 104,940,837 (GRCm39)	I174T	probably damaging	Het
Cyp21a1	C	A	17: 35,021,378 (GRCm39)	R331L	probably benign	Het
Dnah5	A	G	15: 28,252,691 (GRCm39)	T795A	probably benign	Het
Eif2ak2	A	G	17: 79,181,447 (GRCm39)	V100A	possibly damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gp2	T	C	7: 119,051,507 (GRCm39)	D236G	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gzmd	T	A	14: 56,368,153 (GRCm39)	H102L	probably damaging	Het
Klk1b1	A	T	7: 43,619,857 (GRCm39)	I139F	probably damaging	Het
Lcmt2	G	A	2: 120,969,766 (GRCm39)	P439L	probably damaging	Het
Loxl4	C	T	19: 42,588,446 (GRCm39)	A570T	probably damaging	Het
Mga	T	A	2: 119,750,124 (GRCm39)	H674Q	probably damaging	Het
Mybpc3	A	T	2: 90,955,715 (GRCm39)	K583M	probably damaging	Het
Ncoa6	G	T	2: 155,249,633 (GRCm39)	P1224T	probably damaging	Het
Nostrin	A	G	2: 69,011,266 (GRCm39)		probably null	Het
Or13e8	T	C	4: 43,697,110 (GRCm39)	H21R	probably benign	Het
Or4c3	A	T	2: 89,851,882 (GRCm39)	V176E	probably damaging	Het
Oxsr1	A	C	9: 119,133,880 (GRCm39)	D58E	possibly damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Phf10	C	T	17: 15,172,926 (GRCm39)	E304K	probably damaging	Het
Prmt5	T	C	14: 54,752,795 (GRCm39)	T139A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptp4a3	A	G	15: 73,623,865 (GRCm39)	T32A	probably benign	Het
Rad51ap2	T	C	12: 11,507,752 (GRCm39)	L558S	possibly damaging	Het
Rapgef4	A	G	2: 72,005,225 (GRCm39)	D80G	probably damaging	Het
Sec24a	T	G	11: 51,603,177 (GRCm39)	H757P	probably damaging	Het
Sema4d	T	C	13: 51,874,571 (GRCm39)	N129D	probably damaging	Het
Serpini1	A	G	3: 75,531,251 (GRCm39)	T323A	probably benign	Het
Setd1a	G	A	7: 127,384,661 (GRCm39)	R504H	possibly damaging	Het
Sftpb	T	C	6: 72,286,770 (GRCm39)	C226R	probably damaging	Het
Sp8	T	C	12: 118,812,441 (GRCm39)	S99P	possibly damaging	Het
Srgap3	A	G	6: 112,748,339 (GRCm39)	F438L	probably damaging	Het
Stim2	T	C	5: 54,267,156 (GRCm39)	Y365H	probably damaging	Het
Stk36	A	G	1: 74,673,896 (GRCm39)	Q1263R	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Troap	G	T	15: 98,975,467 (GRCm39)	A184S	probably damaging	Het
Ttn	G	A	2: 76,729,671 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,689,363 (GRCm39)	A531S	probably benign	Het
Vmn2r12	T	A	5: 109,239,340 (GRCm39)	I408F	probably benign	Het
Vmn2r8	T	A	5: 108,950,169 (GRCm39)	E226V	probably benign	Het
Vmo1	A	G	11: 70,404,608 (GRCm39)	F131S	probably benign	Het
Vwf	T	C	6: 125,603,304 (GRCm39)	F885L	probably damaging	Het
Wdpcp	A	T	11: 21,807,476 (GRCm39)	M618L	probably benign	Het
Wdr90	T	C	17: 26,070,715 (GRCm39)	E1072G	probably benign	Het

Other mutations in Pwwp2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Pwwp2b	APN	7	138,834,771 (GRCm39)	nonsense	probably null
IGL02209:Pwwp2b	APN	7	138,835,021 (GRCm39)	missense	probably damaging	1.00
IGL02938:Pwwp2b	APN	7	138,836,059 (GRCm39)	missense	probably damaging	1.00
Conservative	UTSW	7	138,835,502 (GRCm39)	missense	probably benign	0.09
Edgy	UTSW	7	138,835,978 (GRCm39)	missense	possibly damaging	0.90
R0033:Pwwp2b	UTSW	7	138,834,844 (GRCm39)	missense	possibly damaging	0.87
R0033:Pwwp2b	UTSW	7	138,834,844 (GRCm39)	missense	possibly damaging	0.87
R1491:Pwwp2b	UTSW	7	138,835,879 (GRCm39)	missense	probably damaging	1.00
R1636:Pwwp2b	UTSW	7	138,834,758 (GRCm39)	missense	probably benign	0.00
R1672:Pwwp2b	UTSW	7	138,834,747 (GRCm39)	missense	probably benign
R1793:Pwwp2b	UTSW	7	138,836,281 (GRCm39)	missense	probably damaging	0.97
R2016:Pwwp2b	UTSW	7	138,836,067 (GRCm39)	missense	possibly damaging	0.91
R2228:Pwwp2b	UTSW	7	138,835,104 (GRCm39)	missense	probably damaging	1.00
R2229:Pwwp2b	UTSW	7	138,835,104 (GRCm39)	missense	probably damaging	1.00
R2380:Pwwp2b	UTSW	7	138,835,366 (GRCm39)	missense	probably damaging	1.00
R3023:Pwwp2b	UTSW	7	138,836,110 (GRCm39)	missense	probably damaging	1.00
R3933:Pwwp2b	UTSW	7	138,835,950 (GRCm39)	missense	possibly damaging	0.66
R4440:Pwwp2b	UTSW	7	138,835,555 (GRCm39)	missense	probably benign	0.09
R4844:Pwwp2b	UTSW	7	138,835,502 (GRCm39)	missense	probably benign	0.09
R4873:Pwwp2b	UTSW	7	138,835,978 (GRCm39)	missense	possibly damaging	0.90
R4875:Pwwp2b	UTSW	7	138,835,978 (GRCm39)	missense	possibly damaging	0.90
R5022:Pwwp2b	UTSW	7	138,835,494 (GRCm39)	missense	possibly damaging	0.81
R5446:Pwwp2b	UTSW	7	138,835,066 (GRCm39)	missense	probably damaging	0.96
R5656:Pwwp2b	UTSW	7	138,835,887 (GRCm39)	missense	possibly damaging	0.93
R6465:Pwwp2b	UTSW	7	138,835,951 (GRCm39)	missense	probably benign	0.01
R6578:Pwwp2b	UTSW	7	138,836,028 (GRCm39)	missense	probably damaging	1.00
R6774:Pwwp2b	UTSW	7	138,835,903 (GRCm39)	missense	probably benign	0.13
R7218:Pwwp2b	UTSW	7	138,836,049 (GRCm39)	missense	probably damaging	1.00
R7316:Pwwp2b	UTSW	7	138,836,140 (GRCm39)	missense	probably benign	0.29
R7818:Pwwp2b	UTSW	7	138,835,240 (GRCm39)	missense	probably benign
R8249:Pwwp2b	UTSW	7	138,834,759 (GRCm39)	missense	probably damaging	0.99
R8319:Pwwp2b	UTSW	7	138,835,099 (GRCm39)	missense	probably damaging	0.99
R8671:Pwwp2b	UTSW	7	138,836,326 (GRCm39)	missense	probably damaging	1.00
R8785:Pwwp2b	UTSW	7	138,836,086 (GRCm39)	missense	possibly damaging	0.85
R9331:Pwwp2b	UTSW	7	138,835,357 (GRCm39)	missense	probably damaging	1.00
X0017:Pwwp2b	UTSW	7	138,835,722 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGAGCTAGAGTTCTCCCTTATTC -3'
(R):5'- TTCCAGGATCCCGGTTTCTG -3'

Sequencing Primer
(F):5'- CTGACTCTGTTCCCTTCTACCAGG -3'
(R):5'- TTTCTGGAGAGTCGCCGAC -3'

Posted On

2014-10-01