Mutagenetix > Incidental Mutation

Incidental Mutation 'R6709:Pwwp2a'

529069

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2a

Ensembl Gene

ENSMUSG00000044950

Gene Name

PWWP domain containing 2A

Synonyms

4631424J17Rik, D930040F23Rik

MMRRC Submission

044827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R6709 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43572825-43612318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 43595554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 240 (L240V)

Ref Sequence

ENSEMBL: ENSMUSP00000091852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061070] [ENSMUST00000094294] [ENSMUST00000109280]

AlphaFold

Q69Z61

Predicted Effect

probably damaging
Transcript: ENSMUST00000061070
AA Change: L240V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: L240V

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC
low complexity region	488	509	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
low complexity region	566	576	N/A	INTRINSIC
low complexity region	588	598	N/A	INTRINSIC
Pfam:PWWP	628	714	5.3e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000094294
AA Change: L240V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091852
Gene: ENSMUSG00000044950
AA Change: L240V

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109280

SMART Domains

Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950

Domain	Start	End	E-Value	Type
low complexity region	213	234	N/A	INTRINSIC
low complexity region	273	287	N/A	INTRINSIC
low complexity region	291	301	N/A	INTRINSIC
low complexity region	313	323	N/A	INTRINSIC
Pfam:PWWP	353	438	2.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129229

Meta Mutation Damage Score

0.1463

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,552,779 (GRCm39)	D36G	possibly damaging	Het
Actn1	T	A	12: 80,240,418 (GRCm39)	D223V	probably damaging	Het
Adgre1	A	T	17: 57,713,917 (GRCm39)	N201Y	probably benign	Het
Agbl4	T	A	4: 111,423,979 (GRCm39)		probably benign	Het
Atg4d	T	C	9: 21,179,944 (GRCm39)	Y272H	probably damaging	Het
Ccdc39	T	C	3: 33,884,242 (GRCm39)	T367A	possibly damaging	Het
Ceacam2	T	C	7: 25,229,262 (GRCm39)	T293A	possibly damaging	Het
Col19a1	C	T	1: 24,321,577 (GRCm39)	G977E	probably damaging	Het
Csnka2ip	A	T	16: 64,298,932 (GRCm39)	H33Q	possibly damaging	Het
Cyp3a44	A	T	5: 145,714,902 (GRCm39)		probably null	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,594,706 (GRCm39)	D3492G	probably damaging	Het
Eepd1	A	T	9: 25,394,164 (GRCm39)	T143S	probably benign	Het
Eml2	A	G	7: 18,940,136 (GRCm39)	*650W	probably null	Het
Etv1	C	T	12: 38,833,796 (GRCm39)	T19I	possibly damaging	Het
Fam133b	T	C	5: 3,619,059 (GRCm39)		probably benign	Het
Fgd4	T	C	16: 16,302,345 (GRCm39)	H70R	probably benign	Het
Galnt11	C	T	5: 25,453,851 (GRCm39)	R26C	probably damaging	Het
Gm136	T	A	4: 34,755,884 (GRCm39)	Y43F	probably damaging	Het
Gm17409	A	T	2: 58,361,088 (GRCm39)		probably null	Het
Gm5591	A	G	7: 38,221,499 (GRCm39)	I190T	probably benign	Het
H1f9	T	A	11: 94,858,772 (GRCm39)	S22R	possibly damaging	Het
Htra1	C	T	7: 130,537,948 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints8	A	T	4: 11,221,117 (GRCm39)	Y753N	possibly damaging	Het
Itprid2	A	G	2: 79,475,276 (GRCm39)	T412A	probably benign	Het
L3mbtl3	G	A	10: 26,158,695 (GRCm39)	T651I	unknown	Het
Ltb4r2	A	C	14: 55,999,990 (GRCm39)	T204P	possibly damaging	Het
Ltbp3	G	A	19: 5,797,885 (GRCm39)		probably null	Het
Mlxip	A	T	5: 123,585,339 (GRCm39)	I616F	possibly damaging	Het
Mpz	A	T	1: 170,978,301 (GRCm39)		probably benign	Het
Myh11	A	G	16: 14,041,358 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,703,906 (GRCm39)	L1949P	probably damaging	Het
Olfm2	A	G	9: 20,584,009 (GRCm39)	Y116H	probably damaging	Het
Or2t47	T	C	11: 58,442,862 (GRCm39)	M68V	probably benign	Het
Or6s1	A	T	14: 51,308,286 (GRCm39)	L188H	probably damaging	Het
Pde4d	T	G	13: 110,084,813 (GRCm39)	L470R	probably damaging	Het
Plxna2	T	A	1: 194,472,074 (GRCm39)	N1013K	probably benign	Het
Ptpn13	A	C	5: 103,734,622 (GRCm39)	Q2118P	probably benign	Het
Reep2	T	C	18: 34,979,263 (GRCm39)	L196P	probably benign	Het
Shank1	A	T	7: 44,003,600 (GRCm39)	N1765I	probably benign	Het
Slc25a13	A	G	6: 6,073,440 (GRCm39)	S473P	possibly damaging	Het
Slc33a1	C	A	3: 63,852,122 (GRCm39)	M450I	possibly damaging	Het
Slc45a2	A	G	15: 11,001,216 (GRCm39)	Y105C	possibly damaging	Het
Slc4a11	A	T	2: 130,526,616 (GRCm39)	L812Q	probably damaging	Het
Sox6	T	C	7: 115,301,024 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,773,887 (GRCm39)	M528K	probably benign	Het
Syngr4	A	G	7: 45,538,122 (GRCm39)	V82A	probably benign	Het
Tmem185b	G	A	1: 119,454,604 (GRCm39)	V122I	probably benign	Het
Trdn	A	G	10: 33,340,587 (GRCm39)	D607G	probably benign	Het
Trim10	T	A	17: 37,183,262 (GRCm39)	I186N	probably damaging	Het
Trp53i11	A	T	2: 93,030,163 (GRCm39)	M157L	probably benign	Het
Ubr3	C	A	2: 69,843,436 (GRCm39)	H1559N	probably damaging	Het
Usp25	A	C	16: 76,880,820 (GRCm39)	E727A	probably benign	Het
Vmn2r42	T	A	7: 8,195,618 (GRCm39)	R509S	probably benign	Het
Vmn2r69	T	C	7: 85,061,069 (GRCm39)	N172D	probably benign	Het
Zfp14	T	C	7: 29,737,557 (GRCm39)	Y476C	probably damaging	Het

Other mutations in Pwwp2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02200:Pwwp2a	APN	11	43,596,955 (GRCm39)	missense	possibly damaging	0.46
IGL02227:Pwwp2a	APN	11	43,596,448 (GRCm39)	missense	possibly damaging	0.93
IGL02653:Pwwp2a	APN	11	43,596,862 (GRCm39)	missense	possibly damaging	0.69
IGL03258:Pwwp2a	APN	11	43,595,392 (GRCm39)	missense	probably benign	0.21
R0376:Pwwp2a	UTSW	11	43,595,499 (GRCm39)	missense	probably benign	0.00
R1465:Pwwp2a	UTSW	11	43,596,383 (GRCm39)	missense	possibly damaging	0.95
R1465:Pwwp2a	UTSW	11	43,596,383 (GRCm39)	missense	possibly damaging	0.95
R2127:Pwwp2a	UTSW	11	43,596,145 (GRCm39)	missense	probably benign	0.13
R2128:Pwwp2a	UTSW	11	43,596,145 (GRCm39)	missense	probably benign	0.13
R2173:Pwwp2a	UTSW	11	43,573,313 (GRCm39)	missense	probably benign	0.01
R3077:Pwwp2a	UTSW	11	43,596,212 (GRCm39)	missense	probably damaging	1.00
R3436:Pwwp2a	UTSW	11	43,597,015 (GRCm39)	nonsense	probably null
R3437:Pwwp2a	UTSW	11	43,597,015 (GRCm39)	nonsense	probably null
R4427:Pwwp2a	UTSW	11	43,573,344 (GRCm39)	missense	possibly damaging	0.52
R5597:Pwwp2a	UTSW	11	43,573,422 (GRCm39)	missense	probably benign	0.34
R5672:Pwwp2a	UTSW	11	43,596,968 (GRCm39)	missense	probably damaging	1.00
R6132:Pwwp2a	UTSW	11	43,596,455 (GRCm39)	missense	probably damaging	1.00
R6197:Pwwp2a	UTSW	11	43,595,423 (GRCm39)	missense	probably benign	0.00
R6563:Pwwp2a	UTSW	11	43,596,592 (GRCm39)	missense	possibly damaging	0.88
R7049:Pwwp2a	UTSW	11	43,597,018 (GRCm39)	missense	probably damaging	0.99
R7305:Pwwp2a	UTSW	11	43,607,878 (GRCm39)	missense	probably damaging	0.98
R7351:Pwwp2a	UTSW	11	43,573,107 (GRCm39)	missense	probably benign	0.12
R7767:Pwwp2a	UTSW	11	43,596,696 (GRCm39)	missense	probably damaging	1.00
R8921:Pwwp2a	UTSW	11	43,596,344 (GRCm39)	missense	probably damaging	0.96
R9144:Pwwp2a	UTSW	11	43,596,721 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CTGTGACAGTATTTCCCAAAAGGG -3'
(R):5'- GAAGAGTCACTGCTACCTTTCC -3'

Sequencing Primer
(F):5'- GAATATAAGGACAAACCGGACGCC -3'
(R):5'- TTACACTTATCACACAGGACTTGC -3'

Posted On

2018-07-24