Mutagenetix > Incidental Mutation

Incidental Mutation 'R6175:Wwp2'

487696

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

044317-MU

Accession Numbers

Essential gene?

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

Stock #

R6175 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108162997-108285227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108210039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 139 (I139N)

Ref Sequence

ENSEMBL: ENSMUSP00000132224 (fasta)

Gene Model

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

AlphaFold

Q9DBH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166615
AA Change: I139N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: I139N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212906

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

97% (85/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,902,448 (GRCm39)	K623E	probably damaging	Het
A530064D06Rik	T	A	17: 48,460,016 (GRCm39)	S227C	possibly damaging	Het
Adam30	A	T	3: 98,070,266 (GRCm39)	I700F	probably damaging	Het
Adam5	A	T	8: 25,276,167 (GRCm39)	M500K	probably benign	Het
Adgb	A	T	10: 10,274,687 (GRCm39)	S755T	possibly damaging	Het
Adgrv1	C	T	13: 81,534,124 (GRCm39)	G5819D	probably damaging	Het
Ank3	T	A	10: 69,763,557 (GRCm39)	Y17N	probably damaging	Het
Ano2	A	T	6: 125,969,918 (GRCm39)	M745L	probably benign	Het
Arap2	A	G	5: 62,872,074 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,291,759 (GRCm39)		probably benign	Het
AU021092	G	T	16: 5,038,312 (GRCm39)		probably null	Het
Bbs1	A	T	19: 4,940,749 (GRCm39)	L578Q	probably damaging	Het
Brd9	A	T	13: 74,108,433 (GRCm39)	E589D	probably damaging	Het
Calr4	A	G	4: 109,101,442 (GRCm39)	D108G	probably benign	Het
Ccdc82	A	G	9: 13,272,798 (GRCm39)	D429G	probably damaging	Het
Cdh22	G	T	2: 164,988,550 (GRCm39)	N268K	probably damaging	Het
Ceacam12	G	A	7: 17,801,312 (GRCm39)	G97D	probably damaging	Het
Clcn1	A	G	6: 42,291,096 (GRCm39)	D990G	probably damaging	Het
Cyp2c40	T	C	19: 39,801,004 (GRCm39)	T84A	probably benign	Het
Dnah7a	G	A	1: 53,472,181 (GRCm39)	P3529S	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Efna3	GAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGC	3: 89,230,105 (GRCm39)		probably benign	Het
Ehd2	G	A	7: 15,697,389 (GRCm39)	Q4*	probably null	Het
Eml5	A	G	12: 98,760,715 (GRCm39)	V1726A	possibly damaging	Het
Esam	A	G	9: 37,439,544 (GRCm39)	T10A	probably benign	Het
Fbxl6	A	G	15: 76,422,633 (GRCm39)	L95P	probably benign	Het
Fbxw18	T	A	9: 109,505,947 (GRCm39)	L441F	probably damaging	Het
Fbxw4	A	G	19: 45,624,766 (GRCm39)	S73P	probably benign	Het
Fndc1	T	A	17: 7,991,479 (GRCm39)	H739L	unknown	Het
Foxp1	G	A	6: 98,943,037 (GRCm39)	T237I	probably damaging	Het
Greb1	A	T	12: 16,724,771 (GRCm39)	I1801N	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa13	G	T	6: 52,236,908 (GRCm39)	N281K	probably damaging	Het
Hspg2	A	G	4: 137,296,829 (GRCm39)	T4328A	probably damaging	Het
Htr2a	C	G	14: 74,882,474 (GRCm39)	Y153*	probably null	Het
Iglv1	C	A	16: 18,903,844 (GRCm39)	A92S	probably damaging	Het
Itih1	A	G	14: 30,653,152 (GRCm39)	S759P	probably damaging	Het
Kctd1	G	T	18: 15,102,688 (GRCm39)	S831*	probably null	Het
Kif20a	T	A	18: 34,761,199 (GRCm39)	S265T	probably damaging	Het
Kif22	T	A	7: 126,630,228 (GRCm39)	E436V	possibly damaging	Het
Kif27	A	G	13: 58,459,051 (GRCm39)	W927R	probably damaging	Het
Lcorl	G	A	5: 45,933,832 (GRCm39)	P66L	probably damaging	Het
Lct	A	G	1: 128,255,451 (GRCm39)	L197P	probably damaging	Het
Lefty1	T	C	1: 180,762,714 (GRCm39)	S14P	unknown	Het
Lnp1	A	G	16: 56,737,855 (GRCm39)	S78P	possibly damaging	Het
Map3k19	A	T	1: 127,750,569 (GRCm39)	H927Q	probably benign	Het
Meiosin	C	A	7: 18,834,814 (GRCm39)		probably benign	Het
Mta3	A	G	17: 84,099,222 (GRCm39)	T430A	probably benign	Het
Muc2	G	T	7: 141,282,875 (GRCm39)	C627F	probably damaging	Het
Myh13	A	G	11: 67,245,588 (GRCm39)	D1076G	probably benign	Het
Nck2	T	A	1: 43,572,729 (GRCm39)	M1K	probably null	Het
Nipal1	A	G	5: 72,820,898 (GRCm39)	N131S	probably damaging	Het
Nlrp9c	T	C	7: 26,077,426 (GRCm39)		probably null	Het
Nr2f2	A	G	7: 70,007,946 (GRCm39)	S179P	probably damaging	Het
Or1j16	A	G	2: 36,530,063 (GRCm39)	D4G	probably benign	Het
Or1j21	A	T	2: 36,683,980 (GRCm39)	H244L	probably damaging	Het
Or9g19	A	T	2: 85,600,652 (GRCm39)	N169I	probably benign	Het
Oxt	G	T	2: 130,418,163 (GRCm39)		probably benign	Het
Pank2	T	A	2: 131,122,181 (GRCm39)	Y235*	probably null	Het
Pear1	A	G	3: 87,659,440 (GRCm39)	L798P	possibly damaging	Het
Pex14	T	C	4: 149,046,156 (GRCm39)	H258R	probably benign	Het
Pmpcb	A	G	5: 21,962,031 (GRCm39)	I487V	probably benign	Het
Ppie	T	C	4: 123,031,362 (GRCm39)	E44G	probably benign	Het
Ppp1r9a	A	T	6: 4,905,639 (GRCm39)	R65*	probably null	Het
Ralgapb	T	C	2: 158,288,075 (GRCm39)	S371P	probably damaging	Het
Ros1	T	C	10: 51,977,881 (GRCm39)	H1455R	probably benign	Het
Sacs	C	A	14: 61,450,275 (GRCm39)	T4107K	possibly damaging	Het
Sec24a	G	A	11: 51,622,718 (GRCm39)	T386M	probably damaging	Het
Slc10a4	A	T	5: 73,169,593 (GRCm39)	Y207F	possibly damaging	Het
Slc30a10	T	C	1: 185,187,508 (GRCm39)	L83P	probably damaging	Het
Slc38a9	T	A	13: 112,840,093 (GRCm39)	L324*	probably null	Het
Slc7a9	A	T	7: 35,165,277 (GRCm39)	Q474L	probably damaging	Het
Smc5	C	A	19: 23,191,534 (GRCm39)	V875L	possibly damaging	Het
Snap91	T	C	9: 86,707,053 (GRCm39)	R246G	probably damaging	Het
Sned1	A	G	1: 93,203,196 (GRCm39)		probably null	Het
Spink14	G	A	18: 44,164,938 (GRCm39)	G85E	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
St13	A	G	15: 81,283,506 (GRCm39)		probably null	Het
Stk10	A	G	11: 32,553,761 (GRCm39)	M593V	possibly damaging	Het
Tafa1	A	G	6: 96,092,721 (GRCm39)	H35R	probably benign	Het
Tex21	C	A	12: 76,245,707 (GRCm39)	A530S	probably benign	Het
Tln2	T	A	9: 67,131,363 (GRCm39)	K1394N	probably damaging	Het
Trhr2	C	A	8: 123,084,118 (GRCm39)	R294L	probably damaging	Het
Unc79	A	T	12: 103,149,708 (GRCm39)	I2408F	probably damaging	Het
Wdr24	T	C	17: 26,045,552 (GRCm39)	L429P	probably damaging	Het
Zfp111	G	A	7: 23,897,554 (GRCm39)	R686C	unknown	Het
Zfp268	A	T	4: 145,350,811 (GRCm39)		probably benign	Het
Zyg11a	A	G	4: 108,046,878 (GRCm39)	V532A	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
R1573:Wwp2	UTSW	8	108,275,121 (GRCm39)	missense	probably damaging	1.00
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
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'- GCATTGCCATTCAGCACAC -3'
(R):5'- TAACCAAGATGCCTAGCAGAG -3'

Sequencing Primer
(F):5'- TTTCACAAGACATTAGAAAGGGC -3'
(R):5'- GATGCCTAGCAGAGAACCAAGC -3'

Posted On

2017-10-10