Mutagenetix > Incidental Mutations

Incidental Mutation 'R5042:Wwp2'

393261

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

042632-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R5042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107436365-107558595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107548485 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 417 (N417K)

Ref Sequence

ENSEMBL: ENSMUSP00000132224 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083505

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166615
AA Change: N417K

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: N417K

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 benign
Transcript: ENSMUST00000212205
AA Change: N371K

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000212543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212993

Meta Mutation Damage Score

0.1006

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.8%

Validation Efficiency

100% (57/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	A	7: 29,574,502		noncoding transcript	Het
4933413J09Rik	C	A	14: 26,376,281		noncoding transcript	Het
Aldh1a2	A	G	9: 71,285,004	I413V	possibly damaging	Het
Alpk2	C	T	18: 65,350,508	W143*	probably null	Het
Anpep	G	T	7: 79,839,469	N318K	probably benign	Het
Art5	A	T	7: 102,099,465	L10H	probably damaging	Het
Atg2b	T	G	12: 105,621,262	H1981P	probably benign	Het
B3gnt3	T	C	8: 71,692,888	T279A	probably damaging	Het
Bmp10	G	T	6: 87,434,057	E277D	probably damaging	Het
Ccdc180	A	G	4: 45,916,255	T191A	probably damaging	Het
Dars2	T	A	1: 161,045,094		probably benign	Het
F5	T	A	1: 164,219,451	I2160N	probably damaging	Het
Fndc7	A	T	3: 108,862,786	V608D	probably damaging	Het
Gad1-ps	A	T	10: 99,445,654		noncoding transcript	Het
Gbp2b	A	G	3: 142,611,463	K527E	probably benign	Het
Gm10719	T	A	9: 3,018,970	F72I	probably damaging	Het
Hes3	T	A	4: 152,287,043	S150C	possibly damaging	Het
Hp1bp3	T	A	4: 138,222,108	M1K	probably null	Het
Il17rd	T	A	14: 27,096,041	V229E	probably damaging	Het
Iqch	A	G	9: 63,496,234	M634T	possibly damaging	Het
Magel2	C	T	7: 62,379,606	R753W	unknown	Het
Med26	A	G	8: 72,497,075	V60A	probably damaging	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Nat1	T	G	8: 67,491,576	D201E	probably benign	Het
Nav3	G	T	10: 109,769,268	S981R	probably benign	Het
Nbn	C	A	4: 15,981,446	L513M	probably benign	Het
Nfatc3	T	C	8: 106,108,125	V701A	probably benign	Het
Nlrp9a	A	G	7: 26,571,278	D911G	probably damaging	Het
Npr2	A	T	4: 43,647,002	I712F	probably damaging	Het
Olfr514	A	G	7: 108,825,471	I176T	possibly damaging	Het
Oplah	G	A	15: 76,305,709	R235*	probably null	Het
Pcdha11	T	A	18: 37,011,596	Y247N	probably damaging	Het
Pcdhga9	A	G	18: 37,737,577	Y153C	probably damaging	Het
Pkd1	A	T	17: 24,569,887	D873V	probably benign	Het
Pnpla1	A	G	17: 28,881,047	N296S	probably benign	Het
Ppfia3	A	G	7: 45,342,341	V839A	probably damaging	Het
Ppm1j	A	T	3: 104,782,720	Q148L	probably null	Het
Prune2	T	A	19: 17,119,797	N888K	possibly damaging	Het
Sh3bgr	A	G	16: 96,205,866	D12G	probably benign	Het
Snph	T	A	2: 151,601,057	I35F	possibly damaging	Het
Spag17	A	T	3: 100,072,149	D1442V	probably damaging	Het
Spidr	T	C	16: 16,118,903	T113A	probably benign	Het
St13	A	T	15: 81,365,492	N349K	probably damaging	Het
Ttll6	C	T	11: 96,154,604	S549F	possibly damaging	Het
Uap1l1	A	T	2: 25,362,085	S473T	possibly damaging	Het
Vmn1r54	T	C	6: 90,269,440	V112A	possibly damaging	Het
Vmn2r57	G	A	7: 41,428,662	S124L	probably benign	Het
Wasf2	A	T	4: 133,176,564	R28W	probably benign	Het
Zc3h13	A	T	14: 75,339,396	D1648V	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
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
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'- ACAGGGGAAAGGCTCTTTG -3'
(R):5'- AGCACGTTTATGGCCTAAAGG -3'

Sequencing Primer
(F):5'- TCCCCAATGTCAAGTGTG -3'
(R):5'- AGGTGCCCTAATGTTAGCAC -3'

Posted On

2016-06-15