Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Wwp2'

170969

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

039612-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R1573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108162997-108285227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108275121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 373 (R373W)

Ref Sequence

ENSEMBL: ENSMUSP00000148679 (fasta)

Gene Model

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

AlphaFold

Q9DBH0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083505

Predicted Effect

probably damaging
Transcript: ENSMUST00000166615
AA Change: R419W

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

SMART Domains

Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: R419W

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: R373W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212993

Meta Mutation Damage Score

0.9446

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,004,445 (GRCm39)		probably benign	Het
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Auts2	T	C	5: 131,469,325 (GRCm39)	K664R	probably damaging	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Fndc3a	C	A	14: 72,806,384 (GRCm39)	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,880,863 (GRCm39)	R251G	possibly damaging	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,546,754 (GRCm39)	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,660,500 (GRCm39)	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Serpina6	T	C	12: 103,618,012 (GRCm39)	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Tmcc1	C	T	6: 116,110,924 (GRCm39)	S123N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	probably benign	Het

Other mutations in Wwp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01383:Wwp2	APN	8	108,259,923 (GRCm39)	critical splice donor site	probably null
IGL01411:Wwp2	APN	8	108,232,977 (GRCm39)	missense	probably benign	0.07
IGL01503:Wwp2	APN	8	108,276,413 (GRCm39)	missense	probably damaging	0.97
IGL01543:Wwp2	APN	8	108,210,000 (GRCm39)	missense	probably damaging	1.00
IGL01998:Wwp2	APN	8	108,276,153 (GRCm39)	missense	probably damaging	1.00
IGL02020:Wwp2	APN	8	108,283,127 (GRCm39)	missense	probably damaging	1.00
IGL02089:Wwp2	APN	8	108,280,689 (GRCm39)	missense	probably damaging	1.00
IGL02131:Wwp2	APN	8	108,278,950 (GRCm39)	missense	probably damaging	0.99
IGL02352:Wwp2	APN	8	108,267,278 (GRCm39)	nonsense	probably null
IGL02359:Wwp2	APN	8	108,267,278 (GRCm39)	nonsense	probably null
IGL02419:Wwp2	APN	8	108,276,447 (GRCm39)	missense	probably damaging	1.00
IGL02528:Wwp2	APN	8	108,281,099 (GRCm39)	missense	probably benign	0.06
R0639:Wwp2	UTSW	8	108,244,578 (GRCm39)	missense	probably benign	0.01
R0834:Wwp2	UTSW	8	108,283,428 (GRCm39)	splice site	probably benign
R1653:Wwp2	UTSW	8	108,210,042 (GRCm39)	missense	possibly damaging	0.49
R1782:Wwp2	UTSW	8	108,233,031 (GRCm39)	frame shift	probably null
R1941:Wwp2	UTSW	8	108,244,547 (GRCm39)	missense	probably benign
R2483:Wwp2	UTSW	8	108,275,167 (GRCm39)	missense	probably damaging	1.00
R4014:Wwp2	UTSW	8	108,212,253 (GRCm39)	missense	probably benign	0.03
R4118:Wwp2	UTSW	8	108,272,091 (GRCm39)	missense	probably benign	0.00
R4402:Wwp2	UTSW	8	108,184,610 (GRCm39)	missense	probably benign	0.08
R5042:Wwp2	UTSW	8	108,275,117 (GRCm39)	missense	possibly damaging	0.95
R5117:Wwp2	UTSW	8	108,280,694 (GRCm39)	missense	possibly damaging	0.86
R5413:Wwp2	UTSW	8	108,281,710 (GRCm39)	missense	probably damaging	1.00
R6175:Wwp2	UTSW	8	108,210,039 (GRCm39)	missense	possibly damaging	0.95
R6232:Wwp2	UTSW	8	108,232,977 (GRCm39)	missense	probably benign	0.03
R6323:Wwp2	UTSW	8	108,267,303 (GRCm39)	missense	probably damaging	1.00
R6759:Wwp2	UTSW	8	108,267,314 (GRCm39)	missense	probably damaging	1.00
R6941:Wwp2	UTSW	8	108,275,134 (GRCm39)	missense	probably damaging	1.00
R7043:Wwp2	UTSW	8	108,184,532 (GRCm39)	missense	probably benign	0.00
R7109:Wwp2	UTSW	8	108,209,988 (GRCm39)	missense	probably benign	0.28
R7457:Wwp2	UTSW	8	108,244,592 (GRCm39)	missense	probably benign	0.05
R8027:Wwp2	UTSW	8	108,282,109 (GRCm39)	missense	probably damaging	1.00
R8704:Wwp2	UTSW	8	108,212,228 (GRCm39)	missense	probably benign
R8796:Wwp2	UTSW	8	108,283,189 (GRCm39)	missense	probably null	1.00
R8844:Wwp2	UTSW	8	108,210,048 (GRCm39)	missense	probably damaging	1.00
R9627:Wwp2	UTSW	8	108,278,959 (GRCm39)	missense	probably damaging	1.00
X0066:Wwp2	UTSW	8	108,244,655 (GRCm39)	missense	probably benign
Z1088:Wwp2	UTSW	8	108,281,719 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAAGTGTGAGTGGGCCAAG -3'
(R):5'- GCCTCAGTGTTCACGAGCAATTCC -3'

Sequencing Primer
(F):5'- AGTGGGCCAAGCTCTCTC -3'
(R):5'- TATGGCCTAAAGGTGCCCTAATG -3'

Posted On

2014-04-13