Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02419:Wwp2'

292561

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wwp2

Ensembl Gene

ENSMUSG00000031930

Gene Name

WW domain containing E3 ubiquitin protein ligase 2

Synonyms

AIP2, 1300010O06Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

107436365-107558595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107549815 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 473 (V473D)

Ref Sequence

ENSEMBL: ENSMUSP00000148679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166615] [ENSMUST00000212205] [ENSMUST00000212543]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083505

Predicted Effect

probably damaging
Transcript: ENSMUST00000166615
AA Change: V519D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: V519D

Domain	Start	End	E-Value	Type
C2	19	115	1.52e-6	SMART
low complexity region	188	208	N/A	INTRINSIC
low complexity region	237	249	N/A	INTRINSIC
WW	301	330	4.61e-8	SMART
WW	331	363	4.33e-13	SMART
WW	406	437	2.86e-13	SMART
WW	445	477	3.6e-10	SMART
HECTc	534	870	3.24e-201	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212063

Predicted Effect

probably damaging
Transcript: ENSMUST00000212205
AA Change: V473D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212543
AA Change: V80D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212993

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased body size, domed skull, short snout, twisted snout and overgrown mandibular incisors. Mice homozygous for a different knock-out allele exhibit increased sensitivity to pIpC-treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Adcy2	A	G	13: 68,982,363	V135A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Cyp11b2	A	T	15: 74,851,055	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,315,688	I162T	probably damaging	Het
Efcab9	T	C	11: 32,522,950	I166V	probably benign	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Klhl24	T	A	16: 20,107,368	Y215*	probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mical1	A	G	10: 41,482,277	K429E	possibly damaging	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Pex6	C	A	17: 46,724,435	T840N	possibly damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Zc3h12a	T	C	4: 125,119,788	T428A	probably benign	Het
Zfp592	A	G	7: 81,038,245	E973G	probably damaging	Het

Other mutations in Wwp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01383:Wwp2	APN	8	107533291	critical splice donor site	probably null
IGL01411:Wwp2	APN	8	107506345	missense	probably benign	0.07
IGL01503:Wwp2	APN	8	107549781	missense	probably damaging	0.97
IGL01543:Wwp2	APN	8	107483368	missense	probably damaging	1.00
IGL01998:Wwp2	APN	8	107549521	missense	probably damaging	1.00
IGL02020:Wwp2	APN	8	107556495	missense	probably damaging	1.00
IGL02089:Wwp2	APN	8	107554057	missense	probably damaging	1.00
IGL02131:Wwp2	APN	8	107552318	missense	probably damaging	0.99
IGL02352:Wwp2	APN	8	107540646	nonsense	probably null
IGL02359:Wwp2	APN	8	107540646	nonsense	probably null
IGL02528:Wwp2	APN	8	107554467	missense	probably benign	0.06
R0639:Wwp2	UTSW	8	107517946	missense	probably benign	0.01
R0834:Wwp2	UTSW	8	107556796	splice site	probably benign
R1573:Wwp2	UTSW	8	107548489	missense	probably damaging	1.00
R1653:Wwp2	UTSW	8	107483410	missense	possibly damaging	0.49
R1782:Wwp2	UTSW	8	107506399	frame shift	probably null
R1941:Wwp2	UTSW	8	107517915	missense	probably benign
R2483:Wwp2	UTSW	8	107548535	missense	probably damaging	1.00
R4014:Wwp2	UTSW	8	107485621	missense	probably benign	0.03
R4118:Wwp2	UTSW	8	107545459	missense	probably benign	0.00
R4402:Wwp2	UTSW	8	107457978	missense	probably benign	0.08
R5042:Wwp2	UTSW	8	107548485	missense	possibly damaging	0.95
R5117:Wwp2	UTSW	8	107554062	missense	possibly damaging	0.86
R5413:Wwp2	UTSW	8	107555078	missense	probably damaging	1.00
R6175:Wwp2	UTSW	8	107483407	missense	possibly damaging	0.95
R6232:Wwp2	UTSW	8	107506345	missense	probably benign	0.03
R6323:Wwp2	UTSW	8	107540671	missense	probably damaging	1.00
R6759:Wwp2	UTSW	8	107540682	missense	probably damaging	1.00
R6941:Wwp2	UTSW	8	107548502	missense	probably damaging	1.00
R7043:Wwp2	UTSW	8	107457900	missense	probably benign	0.00
R7109:Wwp2	UTSW	8	107483356	missense	probably benign	0.28
R7457:Wwp2	UTSW	8	107517960	missense	probably benign	0.05
R8027:Wwp2	UTSW	8	107555477	missense	probably damaging	1.00
X0066:Wwp2	UTSW	8	107518023	missense	probably benign
Z1088:Wwp2	UTSW	8	107555087	missense	probably damaging	1.00

Posted On

2015-04-16