Mutagenetix > Incidental Mutations

Incidental Mutation 'R2483:Wwp2'

250666

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

040407-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107436365-107558595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107548535 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 388 (D388G)

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: D434G

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

SMART Domains

Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: D434G

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: D388G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212993

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230050P20Rik	A	T	9: 20,873,177	I186F	possibly damaging	Het
Adcy1	A	G	11: 7,130,348	T364A	probably benign	Het
Adpgk	G	A	9: 59,313,753	V281I	probably benign	Het
Akap9	C	A	5: 3,976,235	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,281,940	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,763,262	E104G	possibly damaging	Het
Ano6	A	T	15: 95,965,974	T792S	probably benign	Het
Atm	A	T	9: 53,510,266	V715D	probably damaging	Het
Avl9	A	G	6: 56,736,843	D362G	probably benign	Het
Bin1	T	A	18: 32,414,227	S152R	probably damaging	Het
Bscl2	T	A	19: 8,841,150	C40S	probably benign	Het
Btaf1	A	G	19: 36,981,086	T668A	probably benign	Het
Btrc	A	G	19: 45,516,058	D397G	probably damaging	Het
C530008M17Rik	A	T	5: 76,856,409	I206F	probably damaging	Het
Cables2	A	T	2: 180,260,429	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,512,022	L228P	probably damaging	Het
Cd109	A	T	9: 78,667,357	D541V	probably damaging	Het
Cdh26	A	T	2: 178,466,589	S327C	probably damaging	Het
Cep78	T	C	19: 15,960,980	K535E	probably damaging	Het
Ces1a	A	G	8: 93,027,341	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,864,148	R2524I	probably damaging	Het
Dctn1	G	A	6: 83,194,187	R661H	probably damaging	Het
Ddias	T	C	7: 92,859,592	T372A	probably benign	Het
Dffb	T	C	4: 153,965,519	T296A	probably damaging	Het
Dock8	A	G	19: 25,079,877	Q216R	probably benign	Het
Emx1	T	C	6: 85,188,255	S105P	probably benign	Het
Ep400	T	C	5: 110,719,236	Y1014C	unknown	Het
Fam193a	A	T	5: 34,465,758	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,109,571	Q207R	probably benign	Het
Gm5460	G	A	14: 34,045,818	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,855,938	I249T	probably benign	Het
Htr1d	T	C	4: 136,443,504	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738	S364C	probably damaging	Het
Igfn1	T	C	1: 135,969,537	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,724,960	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,114,471	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,848,966	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,186,698	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,480,559	C94G	probably damaging	Het
Met	A	T	6: 17,549,086	D979V	probably damaging	Het
Midn	A	G	10: 80,150,310	D78G	probably benign	Het
Myh1	A	T	11: 67,211,226	M811L	probably benign	Het
Myh7	T	C	14: 54,973,381	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,864,739	T979A	probably benign	Het
Myo18b	A	T	5: 112,858,408	C879S	probably damaging	Het
Myom1	A	G	17: 71,077,812	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,844,399	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,395,179	C74R	possibly damaging	Het
Obscn	A	G	11: 59,080,146	F2514L	probably damaging	Het
Olfr1241	G	A	2: 89,483,127	Q3*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
P2ry2	A	T	7: 100,998,499	S200T	probably benign	Het
Pcdha5	G	T	18: 36,961,489	M350I	probably benign	Het
Pcdha5	G	A	18: 36,961,781	V448M	probably damaging	Het
Pex12	C	T	11: 83,297,629	R180H	possibly damaging	Het
Pkd1l1	A	T	11: 8,962,701	V168E	probably damaging	Het
Prokr2	T	A	2: 132,381,175	D149V	probably damaging	Het
Rnf123	A	G	9: 108,063,521	V707A	probably benign	Het
Ryr2	T	C	13: 11,759,703	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,515,291	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,332,278		probably null	Het
Slc17a5	A	T	9: 78,538,274	V433D	probably damaging	Het
Snapc1	A	G	12: 73,964,643	T28A	probably benign	Het
Soat1	T	C	1: 156,431,099	Y528C	probably damaging	Het
Spem1	G	A	11: 69,821,518	R107C	possibly damaging	Het
Srcap	T	C	7: 127,542,147	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,374,595	N691K	probably damaging	Het
Syne2	A	T	12: 76,095,537	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,868,470	M155L	probably benign	Het
Tenm3	G	A	8: 48,240,270	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,103,072	V1048D	probably damaging	Het
Tmem55b	C	G	14: 50,930,292	V59L	probably damaging	Het
Ttc37	A	G	13: 76,182,867	E1472G	probably damaging	Het
Vav3	T	C	3: 109,341,166	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,435,452	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,816,038	R775G	probably damaging	Het
Vps13c	T	A	9: 67,975,907		probably null	Het
Vps37c	T	A	19: 10,706,205		probably null	Het
Xirp2	A	T	2: 67,524,992	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,203,357		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AATGTCAAGTGTGAGTGGGC -3'
(R):5'- ACCTTCTTGTGTCCTGAGGC -3'

Sequencing Primer
(F):5'- ACCTAACCTTCTGTAGCAGGTTGG -3'
(R):5'- AGGCTCTTGAGGTATTAAGCAC -3'

Posted On

2014-12-04