Mutagenetix > Incidental Mutation

Incidental Mutation 'R4875:Pwwp2b'

376731

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2b

Ensembl Gene

ENSMUSG00000060260

Gene Name

PWWP domain containing 2B

Synonyms

D7Ertd517e, D930023J19Rik, Pwwp2

MMRRC Submission

044392-MU

Accession Numbers

Essential gene?

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

Stock #

R4875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138828398-138847172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138835978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 473 (Q473L)

Ref Sequence

ENSEMBL: ENSMUSP00000091529 (fasta)

Gene Model

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

AlphaFold

E9Q9M8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093993
AA Change: Q473L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: Q473L

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: Q473L

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: Q473L

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

0.0875

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,521,189 (GRCm39)	E119D	probably benign	Het
Alox5	A	T	6: 116,390,811 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,011,515 (GRCm39)	V1294A	probably damaging	Het
BB019430	A	G	10: 58,539,865 (GRCm39)		noncoding transcript	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Catsperb	A	T	12: 101,554,244 (GRCm39)	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,429,356 (GRCm39)	I114T	probably damaging	Het
Cecr2	T	C	6: 120,727,877 (GRCm39)	L340P	probably damaging	Het
Ces2e	T	A	8: 105,653,817 (GRCm39)	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,161,964 (GRCm39)	T79K	probably damaging	Het
Cntn4	G	A	6: 106,414,874 (GRCm39)	R135H	possibly damaging	Het
Cpne8	T	A	15: 90,532,771 (GRCm39)		probably benign	Het
Ctso	C	T	3: 81,849,688 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,389,659 (GRCm39)	M235I	probably benign	Het
Dll3	A	G	7: 27,995,860 (GRCm39)	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,728,085 (GRCm39)	N2928D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dqx1	C	A	6: 83,037,993 (GRCm39)	D460E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,051,164 (GRCm39)	C438R	probably damaging	Het
Ehd3	T	G	17: 74,112,299 (GRCm39)	V21G	probably damaging	Het
Ero1b	G	A	13: 12,619,325 (GRCm39)	V440I	probably damaging	Het
Fpgt	G	A	3: 154,793,550 (GRCm39)	A159V	probably damaging	Het
Gcn1	T	C	5: 115,714,229 (GRCm39)	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,639,226 (GRCm39)	R439W	probably damaging	Het
Gm4353	G	C	7: 115,683,648 (GRCm39)	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,700,101 (GRCm39)	A224T	probably benign	Het
Helz	T	A	11: 107,528,560 (GRCm39)		probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcns1	T	C	2: 164,010,021 (GRCm39)	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,742,892 (GRCm39)	E549G	probably benign	Het
Krt9	T	C	11: 100,080,863 (GRCm39)	I330V	probably benign	Het
Lair1	A	T	7: 4,032,033 (GRCm39)	S25T	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Luzp2	A	G	7: 54,816,996 (GRCm39)	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,557,422 (GRCm39)	S143T	probably benign	Het
Mcph1	A	G	8: 18,675,574 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,396,986 (GRCm39)	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,208,209 (GRCm39)	T168M	probably benign	Het
Mospd4	G	T	18: 46,598,804 (GRCm39)		noncoding transcript	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,379,114 (GRCm39)	V626A	probably damaging	Het
Naa80	C	T	9: 107,460,818 (GRCm39)	R238C	probably damaging	Het
Ncam1	T	C	9: 49,418,921 (GRCm39)		probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ndufv1	T	C	19: 4,062,653 (GRCm39)		probably null	Het
Nlrp2	A	T	7: 5,301,858 (GRCm39)	F211L	probably benign	Het
Or10a49	A	T	7: 108,467,993 (GRCm39)	F123I	probably damaging	Het
Or10q12	T	A	19: 13,746,126 (GRCm39)	M140K	probably damaging	Het
Or2ad1	T	A	13: 21,326,450 (GRCm39)	Y259F	probably damaging	Het
Osbpl11	G	A	16: 33,054,863 (GRCm39)	V649I	probably benign	Het
Pax8	T	A	2: 24,331,652 (GRCm39)	M144L	probably benign	Het
Pcnt	T	C	10: 76,205,688 (GRCm39)	T2555A	probably benign	Het
Plat	T	A	8: 23,258,466 (GRCm39)	I23K	probably benign	Het
Plpp2	G	A	10: 79,366,763 (GRCm39)	T51M	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,957,742 (GRCm39)	M233V	probably benign	Het
Prox1	A	C	1: 189,894,319 (GRCm39)	F42C	probably damaging	Het
Rims4	A	T	2: 163,707,443 (GRCm39)	N127K	probably null	Het
Scn1a	T	C	2: 66,158,820 (GRCm39)	T367A	possibly damaging	Het
Slc23a2	A	G	2: 131,898,800 (GRCm39)	I579T	possibly damaging	Het
Sp9	T	C	2: 73,103,962 (GRCm39)	V172A	possibly damaging	Het
Spta1	T	A	1: 174,003,396 (GRCm39)	L109Q	probably damaging	Het
Strap	ACCTGCCCTCCT	ACCT	6: 137,726,316 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,038,343 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,206 (GRCm39)	V15A	probably damaging	Het
Tgif2-ps2	A	G	17: 40,426,274 (GRCm39)		noncoding transcript	Het
Tnrc18	A	T	5: 142,750,932 (GRCm39)	M1216K	unknown	Het
Tpst2	T	A	5: 112,457,687 (GRCm39)	Y69*	probably null	Het
Tpx2	C	A	2: 152,735,535 (GRCm39)	A721E	probably benign	Het
Trmt1l	A	G	1: 151,330,755 (GRCm39)	T591A	probably benign	Het
Tuba8	T	A	6: 121,203,042 (GRCm39)		probably benign	Het
Ubiad1	T	C	4: 148,528,556 (GRCm39)	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,424,566 (GRCm39)	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,457,108 (GRCm39)	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,308,367 (GRCm39)	I624V	probably damaging	Het
Wdr4	A	G	17: 31,718,129 (GRCm39)	V315A	probably benign	Het
Xpo7	T	C	14: 70,914,256 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,403 (GRCm39)	W190R	probably damaging	Het
Zfp971	A	G	2: 177,674,940 (GRCm39)	T180A	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
R2159:Pwwp2b	UTSW	7	138,834,844 (GRCm39)	missense	possibly damaging	0.87
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
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'- TTTCCCCAAGGTAAACATGGC -3'
(R):5'- TTCGCTTCTTGCCAAGAGG -3'

Sequencing Primer
(F):5'- CCAAGGTAAACATGGCCGTGATG -3'
(R):5'- AAGAGGGCTCTCCATCCTC -3'

Posted On

2016-03-17