Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02359:Wwp2'

290430

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

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

IGL02359

Quality Score

Status

Chromosome

Chromosomal Location

107436365-107558595 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 107540646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 297 (R297*)

Ref Sequence

ENSEMBL: ENSMUSP00000148679 (fasta)

Gene Model

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

AlphaFold

Q9DBH0

Predicted Effect

probably null
Transcript: ENSMUST00000166615
AA Change: R343*

SMART Domains

Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: R343*

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 null
Transcript: ENSMUST00000212205
AA Change: R297*

Predicted Effect

probably benign
Transcript: ENSMUST00000212543

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	C	12: 72,895,055		probably null	Het
Abca5	T	A	11: 110,275,330	N1540I	probably benign	Het
Adamtsl5	T	A	10: 80,343,728		probably null	Het
Aldh2	T	C	5: 121,575,897	E128G	probably null	Het
Ano3	A	T	2: 110,884,943	L50*	probably null	Het
Atp13a3	A	G	16: 30,351,084	I392T	probably damaging	Het
C1qtnf5	A	G	9: 44,108,334	E85G	possibly damaging	Het
Cacna1s	A	T	1: 136,093,252		probably benign	Het
Ccdc150	G	A	1: 54,272,521	R222H	probably benign	Het
Cep55	T	A	19: 38,069,868	I303N	probably damaging	Het
Cmip	A	T	8: 117,411,255		probably benign	Het
Cyp21a1	A	G	17: 34,804,222	Y60H	probably damaging	Het
Cyp2d11	A	G	15: 82,393,920	W10R	possibly damaging	Het
Dock10	A	G	1: 80,505,661	Y2076H	probably damaging	Het
Egflam	T	C	15: 7,234,225	N748S	probably benign	Het
Fam227b	A	G	2: 126,146,254		probably benign	Het
Fancd2	T	A	6: 113,563,112	I654N	probably damaging	Het
Gm17018	G	T	19: 45,577,054	A156S	probably benign	Het
Gm17727	A	T	9: 35,777,884	M1K	probably null	Het
Hpf1	A	G	8: 60,896,802	I155V	probably benign	Het
Hrh1	C	A	6: 114,480,443	N228K	probably benign	Het
Igkv3-2	T	C	6: 70,698,490	L8P	probably damaging	Het
Iqgap3	T	C	3: 88,101,960	F734L	probably benign	Het
Kif5a	T	C	10: 127,243,501	Y276C	probably damaging	Het
Lax1	A	T	1: 133,680,470	S178T	possibly damaging	Het
March6	C	T	15: 31,509,759	C28Y	probably damaging	Het
Mylk3	T	C	8: 85,355,302	T356A	probably benign	Het
Olfr166	T	C	16: 19,487,177	L113P	probably damaging	Het
Pgap2	G	T	7: 102,236,139	V71F	probably damaging	Het
Prob1	T	G	18: 35,652,840	E787A	possibly damaging	Het
Psmd2	C	A	16: 20,656,941	D430E	probably benign	Het
Reln	C	A	5: 22,039,565	G805V	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,820		probably benign	Het
Sgsm2	G	T	11: 74,892,074		probably benign	Het
Slc38a9	A	G	13: 112,690,186	I153V	probably benign	Het
Slco1b2	T	A	6: 141,685,525	D628E	probably damaging	Het
Sult2a5	T	C	7: 13,628,802	S145P	probably benign	Het
Sv2b	T	C	7: 75,136,449	T408A	probably benign	Het
Usp24	T	C	4: 106,403,925	C1626R	probably damaging	Het
Wdr43	C	T	17: 71,632,048	T217M	possibly damaging	Het
Wdr95	G	A	5: 149,580,619	V155M	probably damaging	Het
Wsb1	G	A	11: 79,251,012	L60F	probably damaging	Het
Xkr6	T	C	14: 63,819,707	Y356H	unknown	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
IGL02419:Wwp2	APN	8	107549815	missense	probably damaging	1.00
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
R8704:Wwp2	UTSW	8	107485596	missense	probably benign
R8796:Wwp2	UTSW	8	107556557	missense	probably null	1.00
R8844:Wwp2	UTSW	8	107483416	missense	probably damaging	1.00
R9627:Wwp2	UTSW	8	107552327	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