Mutagenetix > Incidental Mutation

Incidental Mutation 'R4844:Pwwp2b'

372051

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2b

Ensembl Gene

ENSMUSG00000060260

Gene Name

PWWP domain containing 2B

Synonyms

D7Ertd517e, D930023J19Rik, Pwwp2

MMRRC Submission

042457-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138828398-138847172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 138835502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 314 (S314R)

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: S314R

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: S314R

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: S314R

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: S314R

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,634,824 (GRCm39)	T147A	probably benign	Het
Acvrl1	T	C	15: 101,033,409 (GRCm39)	S99P	probably damaging	Het
Adamts3	T	A	5: 89,825,675 (GRCm39)	S1055C	probably damaging	Het
Aftph	T	C	11: 20,658,667 (GRCm39)		probably benign	Het
Aldh1a1	A	G	19: 20,611,764 (GRCm39)	K363E	probably benign	Het
Astn2	A	G	4: 65,562,967 (GRCm39)	V886A	possibly damaging	Het
Atad5	G	A	11: 80,005,137 (GRCm39)		probably null	Het
C9orf72	A	G	4: 35,213,565 (GRCm39)	V31A	possibly damaging	Het
Ccnf	G	T	17: 24,449,331 (GRCm39)	Y482*	probably null	Het
Cfap97	A	G	8: 46,622,712 (GRCm39)	D34G	possibly damaging	Het
Chst11	G	T	10: 83,026,923 (GRCm39)	E117*	probably null	Het
Cobl	A	T	11: 12,204,740 (GRCm39)	L572Q	probably benign	Het
Coch	G	A	12: 51,649,477 (GRCm39)	G263S	probably damaging	Het
Coq4	T	C	2: 29,686,026 (GRCm39)	I205T	possibly damaging	Het
Cyp3a13	A	T	5: 137,915,813 (GRCm39)	I62K	probably benign	Het
Cyp7a1	A	G	4: 6,273,655 (GRCm39)	S84P	probably damaging	Het
Dennd10	GTCT	GT	19: 60,823,435 (GRCm39)		probably null	Het
G6pc3	G	A	11: 102,084,057 (GRCm39)		probably null	Het
Gm10576	T	C	4: 100,911,707 (GRCm39)		noncoding transcript	Het
Gm17511	G	A	7: 126,885,454 (GRCm39)		noncoding transcript	Het
Gnat2	T	C	3: 108,002,831 (GRCm39)	S80P	probably damaging	Het
Gpaa1	C	T	15: 76,216,508 (GRCm39)		probably benign	Het
Gpr107	T	A	2: 31,078,686 (GRCm39)		probably null	Het
Hormad1	T	C	3: 95,478,242 (GRCm39)	Y103H	probably damaging	Het
Ighv14-1	T	G	12: 113,895,622 (GRCm39)	Q101P	probably damaging	Het
Igsf9	A	G	1: 172,324,737 (GRCm39)	D885G	probably benign	Het
Il15ra	G	A	2: 11,723,082 (GRCm39)		probably benign	Het
Islr2	C	T	9: 58,115,517 (GRCm39)		probably benign	Het
Jak3	A	T	8: 72,134,299 (GRCm39)	N467I	possibly damaging	Het
Jarid2	T	C	13: 45,067,248 (GRCm39)	V1023A	probably damaging	Het
Kcnn2	A	T	18: 45,816,187 (GRCm39)	T333S	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2c	T	C	5: 25,520,111 (GRCm39)	T2000A	probably benign	Het
Lpxn	A	G	19: 12,810,536 (GRCm39)	T327A	probably damaging	Het
Mxra8	A	G	4: 155,927,151 (GRCm39)	T362A	probably benign	Het
Myh6	A	G	14: 55,184,651 (GRCm39)	I1560T	possibly damaging	Het
Ndufv1	A	G	19: 4,062,574 (GRCm39)	S17P	probably benign	Het
Nwd1	A	T	8: 73,393,742 (GRCm39)	H335L	probably damaging	Het
Or1a1	A	G	11: 74,086,902 (GRCm39)	D191G	probably damaging	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Otop2	G	A	11: 115,214,201 (GRCm39)		probably null	Het
Rfx7	C	T	9: 72,500,524 (GRCm39)	Q95*	probably null	Het
Serpine2	A	T	1: 79,777,241 (GRCm39)	L192*	probably null	Het
Smpdl3b	T	C	4: 132,465,369 (GRCm39)	I322M	probably damaging	Het
Spata31d1b	C	T	13: 59,866,169 (GRCm39)	R1106C	possibly damaging	Het
Sprr2k	T	G	3: 92,336,732 (GRCm39)		probably null	Het
St8sia1	T	A	6: 142,774,996 (GRCm39)	R194S	possibly damaging	Het
Sv2a	T	A	3: 96,095,695 (GRCm39)	V337D	probably damaging	Het
Tars1	G	A	15: 11,385,281 (GRCm39)	R637W	possibly damaging	Het
Tcp11l2	G	T	10: 84,449,555 (GRCm39)	V507L	probably benign	Het
Tpr	T	C	1: 150,321,630 (GRCm39)	Y2262H	possibly damaging	Het
Vars1	A	G	17: 35,230,588 (GRCm39)	E529G	probably damaging	Het
Vash2	C	T	1: 190,710,691 (GRCm39)		probably benign	Het
Vmn1r194	T	C	13: 22,429,223 (GRCm39)	V280A	probably benign	Het
Vti1a	A	G	19: 55,380,297 (GRCm39)	T142A	probably damaging	Het
Zfp111	C	T	7: 23,898,801 (GRCm39)	C270Y	probably damaging	Het
Zfp518a	T	A	19: 40,903,340 (GRCm39)	Y1090N	probably damaging	Het
Zfp616	A	T	11: 73,975,225 (GRCm39)	Y498F	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
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'- GCCCAGTCATCAAGATCTCC -3'
(R):5'- ACAAGTCCTCTAGCCCATGG -3'

Sequencing Primer
(F):5'- AGTCATCAAGATCTCCTACAGC -3'
(R):5'- CCATCGGCAAAGAGAGCAG -3'

Posted On

2016-03-01