Mutagenetix > Incidental Mutation

Incidental Mutation 'R7049:Pwwp2a'

547490

Institutional Source

Beutler Lab

Gene Symbol

Pwwp2a

Ensembl Gene

ENSMUSG00000044950

Gene Name

PWWP domain containing 2A

Synonyms

4631424J17Rik, D930040F23Rik

MMRRC Submission

045147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R7049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43572825-43612318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43597018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 453 (F453I)

Ref Sequence

ENSEMBL: ENSMUSP00000104903 (fasta)

Gene Model

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

AlphaFold

Q69Z61

Predicted Effect

probably damaging
Transcript: ENSMUST00000061070
AA Change: F728I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: F728I

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 benign
Transcript: ENSMUST00000094294

SMART Domains

Protein: ENSMUSP00000091852
Gene: ENSMUSG00000044950

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 damaging
Transcript: ENSMUST00000109280
AA Change: F453I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950
AA Change: F453I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,941,497 (GRCm39)	V447A	probably benign	Het
Adam6b	A	G	12: 113,454,122 (GRCm39)	D313G	probably damaging	Het
Adcy10	G	T	1: 165,367,443 (GRCm39)	C571F	probably damaging	Het
Anxa1	A	G	19: 20,352,635 (GRCm39)	V313A	probably benign	Het
Bpifb6	A	T	2: 153,750,733 (GRCm39)		probably null	Het
Cacna1c	C	A	6: 118,578,124 (GRCm39)	C1713F	probably benign	Het
Cep135	A	G	5: 76,754,585 (GRCm39)	N354S	probably benign	Het
Cers2	A	G	3: 95,228,965 (GRCm39)	D200G	probably damaging	Het
Cpne1	A	G	2: 155,920,727 (GRCm39)	L133P	probably damaging	Het
Ddhd1	A	G	14: 45,840,138 (GRCm39)	Y16H	probably damaging	Het
Depp1	T	C	6: 116,629,254 (GRCm39)	L199P	probably damaging	Het
Fastkd2	T	C	1: 63,771,009 (GRCm39)	F122L	probably benign	Het
Fastkd5	A	T	2: 130,457,431 (GRCm39)	D386E	probably damaging	Het
Gm5134	T	A	10: 75,828,292 (GRCm39)	C291S	probably damaging	Het
Gria2	T	C	3: 80,596,634 (GRCm39)	S811G	probably damaging	Het
Hcn1	C	T	13: 118,111,998 (GRCm39)	P654L	unknown	Het
Hrnr	C	A	3: 93,230,461 (GRCm39)	S233*	probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Itgal	A	T	7: 126,895,573 (GRCm39)		probably benign	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Mical1	A	G	10: 41,358,246 (GRCm39)	R420G	possibly damaging	Het
Mllt6	T	A	11: 97,564,637 (GRCm39)	L481Q	probably damaging	Het
Mtdh	T	A	15: 34,131,311 (GRCm39)	N174K	probably damaging	Het
Nhsl1	A	G	10: 18,407,386 (GRCm39)	M1507V	probably damaging	Het
Npm3	A	T	19: 45,737,994 (GRCm39)	M1K	probably null	Het
Or1e21	C	T	11: 73,344,430 (GRCm39)	G203R	probably damaging	Het
Pold1	A	T	7: 44,190,795 (GRCm39)	W290R	possibly damaging	Het
Prss52	C	T	14: 64,350,021 (GRCm39)	T216I	probably damaging	Het
Psme4	T	C	11: 30,763,904 (GRCm39)		probably null	Het
Rttn	A	G	18: 89,082,340 (GRCm39)	N1422S	probably damaging	Het
Scaf4	A	C	16: 90,057,075 (GRCm39)	I92R	unknown	Het
Slc12a1	A	G	2: 125,013,177 (GRCm39)	K345E	probably benign	Het
Slc22a28	A	T	19: 8,049,270 (GRCm39)	N326K	probably benign	Het
Smgc	A	G	15: 91,744,576 (GRCm39)	E311G	possibly damaging	Het
Snx7	C	T	3: 117,633,680 (GRCm39)	R90H	possibly damaging	Het
Tex101	A	G	7: 24,367,683 (GRCm39)	I223T	probably benign	Het
Tnik	A	T	3: 28,715,853 (GRCm39)	K1093*	probably null	Het
Tnxb	T	G	17: 34,936,242 (GRCm39)		probably null	Het
Trio	T	C	15: 27,749,885 (GRCm39)	N2272S	possibly damaging	Het
Tubal3	T	C	13: 3,982,756 (GRCm39)	Y179H	probably damaging	Het
Vmn2r4	C	T	3: 64,296,550 (GRCm39)	G745D	probably benign	Het
Vps9d1	A	T	8: 123,973,882 (GRCm39)	Y300*	probably null	Het
Zfp646	T	A	7: 127,479,199 (GRCm39)	C459S	possibly 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
R6709:Pwwp2a	UTSW	11	43,595,554 (GRCm39)	missense	probably damaging	1.00
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'- ATGGTTTGCATCTCCAACCAC -3'
(R):5'- AAATGGCAATTAACAGTCCCTG -3'

Sequencing Primer
(F):5'- GGTTTGCATCTCCAACCACATCTTC -3'
(R):5'- ACAGTCCCTGCAAAAATTGTTTC -3'

Posted On

2019-05-13