Mutagenetix > Incidental Mutation

Incidental Mutation 'R0639:Wwp2'

56922

Institutional Source

Beutler Lab

Gene Symbol

Wwp2

Ensembl Gene

ENSMUSG00000031930

Gene Name

WW domain containing E3 ubiquitin protein ligase 2

Synonyms

AIP2, 1300010O06Rik

MMRRC Submission

038828-MU

Accession Numbers

Essential gene?

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

Stock #

R0639 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107436365-107558595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107517946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 250 (V250G)

Ref Sequence

ENSEMBL: ENSMUSP00000132224 (fasta)

Gene Model

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

AlphaFold

Q9DBH0

Predicted Effect

probably benign
Transcript: ENSMUST00000166615
AA Change: V250G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: V250G

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: ENSMUST00000212012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212063

Predicted Effect

probably benign
Transcript: ENSMUST00000212205
AA Change: V204G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212906

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	C	T	17: 45,733,073	W86*	probably null	Het
5830411N06Rik	A	G	7: 140,247,959	N27D	probably benign	Het
Acadl	T	C	1: 66,857,408	H75R	probably benign	Het
Adamtsl1	T	C	4: 86,277,143	F599S	probably damaging	Het
Adrb3	T	C	8: 27,228,265	N52S	probably damaging	Het
Agbl3	T	A	6: 34,799,705	L377Q	probably damaging	Het
Akap9	T	C	5: 4,060,318	L3007P	probably damaging	Het
Amer3	T	A	1: 34,587,821	Y380*	probably null	Het
Ankrd13d	A	T	19: 4,273,019		probably null	Het
Ap4m1	T	A	5: 138,176,239	C235S	probably benign	Het
Arhgap29	T	C	3: 122,007,641	F675S	probably damaging	Het
Asah2	C	A	19: 32,008,639	V544F	probably damaging	Het
Ash2l	A	G	8: 25,823,291	I389T	possibly damaging	Het
Bend5	T	C	4: 111,433,298	S164P	probably benign	Het
Cacna1d	A	G	14: 30,171,294		probably null	Het
Cdc25b	A	G	2: 131,197,262	N516D	probably benign	Het
Cdc27	A	G	11: 104,531,734	Y125H	probably damaging	Het
Cdk5r2	C	T	1: 74,855,836	L247F	probably damaging	Het
Cenpf	C	A	1: 189,658,062	G1191V	probably benign	Het
Cops4	C	T	5: 100,537,460	T293I	possibly damaging	Het
Csmd3	A	G	15: 47,913,940	L1294P	probably damaging	Het
Dclre1a	T	C	19: 56,538,440	Y848C	probably damaging	Het
Disp2	A	T	2: 118,790,844	I686F	possibly damaging	Het
Dnah6	T	A	6: 73,022,412	Y4012F	probably benign	Het
Dnajc11	C	G	4: 151,969,936	R200G	probably damaging	Het
Dnhd1	A	T	7: 105,696,464	D2272V	possibly damaging	Het
Elane	A	C	10: 79,886,349	R5S	possibly damaging	Het
Entpd7	G	A	19: 43,691,094	V29M	probably benign	Het
Fanca	A	G	8: 123,289,359		probably null	Het
Fgl1	G	T	8: 41,191,624	T281K	probably benign	Het
Flii	T	C	11: 60,722,997		probably null	Het
Foxn1	T	C	11: 78,371,144	D133G	possibly damaging	Het
Fzd7	T	A	1: 59,484,560	M534K	probably damaging	Het
Galnt5	A	G	2: 57,999,395	T336A	probably benign	Het
Gli3	G	A	13: 15,724,715	D896N	probably damaging	Het
Gsx1	G	T	5: 147,189,946	W193L	probably damaging	Het
Gtpbp3	A	T	8: 71,492,735	I485F	probably damaging	Het
H2-M11	A	G	17: 36,547,391	T26A	probably benign	Het
Igfbp7	T	C	5: 77,351,980	D243G	probably damaging	Het
Il31ra	A	T	13: 112,525,843	D477E	possibly damaging	Het
Inmt	A	C	6: 55,171,227	V139G	probably damaging	Het
Inpp5j	T	A	11: 3,501,147	M501L	probably benign	Het
Itsn2	T	C	12: 4,712,556	F1579L	probably damaging	Het
Kat2b	C	A	17: 53,567,538	A70E	probably benign	Het
Klhl20	T	C	1: 161,093,711	E58G	probably damaging	Het
Krt79	A	T	15: 101,931,548	Y337*	probably null	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Letm1	T	C	5: 33,769,426	I176V	possibly damaging	Het
Lingo3	C	A	10: 80,835,784	R104L	probably benign	Het
Lrig3	T	G	10: 126,010,221	C840G	probably damaging	Het
Lrrc9	A	G	12: 72,486,288	N977S	probably damaging	Het
Lrrk2	T	A	15: 91,772,996	M1831K	probably benign	Het
Mn1	A	T	5: 111,419,316	D384V	probably damaging	Het
Morc3	C	A	16: 93,853,850	H319Q	probably damaging	Het
Morn1	T	C	4: 155,089,503	F56L	possibly damaging	Het
Mrpl53	G	T	6: 83,109,411	V64L	probably damaging	Het
Myo15	T	A	11: 60,479,336	V974D	probably benign	Het
Neb	A	G	2: 52,256,124	V2947A	possibly damaging	Het
Nfasc	A	C	1: 132,603,816	N737K	probably damaging	Het
Nlk	T	C	11: 78,572,277	D464G	possibly damaging	Het
Nlrc4	C	T	17: 74,426,963	R985K	probably benign	Het
Nsun6	T	C	2: 14,996,336	K470E	probably benign	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Olfr887	G	A	9: 38,085,370	C178Y	probably damaging	Het
Otop1	T	C	5: 38,287,948	V150A	possibly damaging	Het
Pclo	C	T	5: 14,681,749	R296*	probably null	Het
Pdzd2	A	T	15: 12,458,058	C240S	possibly damaging	Het
Plekhg5	A	G	4: 152,114,120	T922A	probably benign	Het
Plekhm2	A	C	4: 141,642,070	L101R	probably damaging	Het
Plscr3	T	A	11: 69,847,994	C161S	probably benign	Het
Prr14l	C	T	5: 32,828,915	D1079N	probably benign	Het
Ptpru	A	T	4: 131,771,179	V1377E	possibly damaging	Het
Rab37	C	A	11: 115,158,702	D112E	probably benign	Het
Raet1e	T	A	10: 22,174,375	I19N	probably damaging	Het
Rassf5	T	C	1: 131,245,066	Y22C	probably damaging	Het
Rp1	T	C	1: 4,346,498	T1464A	probably benign	Het
Safb	T	A	17: 56,601,092		probably benign	Het
Scarf2	A	G	16: 17,806,505		probably null	Het
Sh3d19	T	C	3: 86,106,973	S415P	probably benign	Het
Slc26a9	T	A	1: 131,763,804	L595Q	probably damaging	Het
Slc4a8	T	C	15: 100,796,550	Y470H	probably damaging	Het
Slitrk3	T	C	3: 73,049,649	N597D	probably benign	Het
Spata31	T	A	13: 64,922,213	V725E	probably benign	Het
Spink12	T	A	18: 44,107,764	C72*	probably null	Het
Spink5	T	A	18: 44,012,975		probably null	Het
Stk40	C	A	4: 126,118,332	S9*	probably null	Het
Sypl	A	T	12: 32,965,421	T40S	probably damaging	Het
Tbc1d8	C	T	1: 39,391,209	E438K	probably benign	Het
Tdrd7	A	G	4: 45,989,102	T111A	probably benign	Het
Tg	A	T	15: 66,741,484		probably null	Het
Tlr5	T	A	1: 182,973,889	W253R	probably damaging	Het
Tmprss11c	C	T	5: 86,235,469	C353Y	probably damaging	Het
Tnfrsf8	T	A	4: 145,288,027	M271L	probably benign	Het
Toe1	T	C	4: 116,806,750	N21S	probably benign	Het
Tpp2	T	C	1: 43,975,447	F649L	probably benign	Het
Ttll1	G	A	15: 83,502,225	Q60*	probably null	Het
Vcp	C	T	4: 42,982,565	R709Q	probably benign	Het
Vmn1r119	T	A	7: 21,011,668	H263L	possibly damaging	Het
Vmn1r195	C	A	13: 22,278,941	Q194K	probably damaging	Het
Vmn1r33	T	C	6: 66,611,799	Y257C	probably damaging	Het
Vmn2r15	A	G	5: 109,293,015	F326L	probably benign	Het
Wbp11	A	T	6: 136,816,110		probably benign	Het
Xpnpep3	T	C	15: 81,430,837	V246A	probably benign	Het
Zcchc14	G	A	8: 121,605,449	R419*	probably null	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
IGL02419:Wwp2	APN	8	107549815	missense	probably damaging	1.00
IGL02528:Wwp2	APN	8	107554467	missense	probably benign	0.06
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

Predicted Primers

PCR Primer
(F):5'- AGTGAGCAAGCTTCTTCCACCTCC -3'
(R):5'- ACTGGGCAACAACCACAGTGTTTC -3'

Sequencing Primer
(F):5'- AGTGCCAGAACCAGTGC -3'
(R):5'- AACCACAGTGTTTCTAACCTGG -3'

Posted On

2013-07-11