Mutagenetix > Incidental Mutations

Incidental Mutation 'R0254:Wnt5a'

34592

Institutional Source

Beutler Lab

Gene Symbol

Wnt5a

Ensembl Gene

ENSMUSG00000021994

Gene Name

wingless-type MMTV integration site family, member 5A

Synonyms

8030457G12Rik, Wnt-5a

MMRRC Submission

038485-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0254 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

28504750-28527448 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28522854 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 353 (E353K)

Ref Sequence

ENSEMBL: ENSMUSP00000064878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063465] [ENSMUST00000112272]

Predicted Effect

probably damaging
Transcript: ENSMUST00000063465
AA Change: E353K

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

SMART Domains

Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: E353K

Domain	Start	End	E-Value	Type
Blast:WNT1	1	46	7e-6	BLAST
WNT1	71	380	6.71e-222	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112272
AA Change: E333K

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994
AA Change: E333K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
WNT1	51	360	6.71e-222	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134163

Meta Mutation Damage Score

0.5526

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants exhibit caudal truncation with shortened anterior-posterior axis, truncation of the snout, tongue and mandible, short fore- and hindlimbs, which lack digits, absent genital tubercle and lung abnormalities. Mutants die perinatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,404	M252L	probably benign	Het
Abca6	A	G	11: 110,236,789	V314A	probably benign	Het
Abcb1b	A	T	5: 8,827,409	E656D	probably benign	Het
Abhd4	T	C	14: 54,263,234	I160T	probably benign	Het
Aco2	T	C	15: 81,889,356	V32A	probably damaging	Het
Actl6b	A	G	5: 137,554,144		probably benign	Het
Akap13	T	C	7: 75,736,604		probably benign	Het
Alpk3	A	T	7: 81,076,974	T136S	probably benign	Het
Ap1g1	G	T	8: 109,803,117	M56I	probably benign	Het
Arid2	C	T	15: 96,370,571	T855I	probably damaging	Het
Asprv1	T	C	6: 86,629,095	F308L	probably damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,812,110	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,981,512		probably benign	Het
Blk	C	A	14: 63,380,804	A218S	probably benign	Het
C4b	T	A	17: 34,734,776	T953S	probably benign	Het
Cdadc1	T	C	14: 59,575,907		probably benign	Het
Cdca2	C	A	14: 67,677,178	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,778,308	V83L	probably damaging	Het
Cep290	A	T	10: 100,514,574	I677F	probably benign	Het
Clip1	A	T	5: 123,617,332		probably benign	Het
Col11a2	G	T	17: 34,064,803		probably benign	Het
Coro1c	A	T	5: 113,845,252	V405D	probably benign	Het
Crebrf	A	G	17: 26,739,594	T13A	probably benign	Het
Cspg4	A	G	9: 56,897,410	E1835G	probably damaging	Het
Cubn	T	C	2: 13,440,514	T1014A	possibly damaging	Het
Cubn	A	T	2: 13,476,035		probably null	Het
Cubn	T	C	2: 13,424,694	N1332S	probably benign	Het
Efnb1	T	C	X: 99,137,028		probably benign	Het
Elf2	G	T	3: 51,308,190	P33Q	probably damaging	Het
Fap	C	T	2: 62,503,402	G633D	probably damaging	Het
Gm10288	T	C	3: 146,838,920		noncoding transcript	Het
Gm14139	G	A	2: 150,191,864	R35K	possibly damaging	Het
Gm7714	A	T	5: 88,282,371	H42L	possibly damaging	Het
Got2	T	C	8: 95,869,538	N318S	probably benign	Het
Guk1	A	T	11: 59,186,028	F76L	probably damaging	Het
H2-K1	A	T	17: 33,996,665		probably benign	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,298,239	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,652,268		probably null	Het
Hsd11b2	T	A	8: 105,523,067	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,658,203	M81K	probably damaging	Het
Kif11	A	G	19: 37,411,509	T815A	probably benign	Het
Kit	G	A	5: 75,620,921	V337I	probably benign	Het
Klf11	T	C	12: 24,653,583	S6P	probably damaging	Het
Klk13	T	C	7: 43,723,821	V193A	probably benign	Het
Krt73	T	A	15: 101,799,889		probably benign	Het
L1td1	T	A	4: 98,737,182	L538*	probably null	Het
Macf1	A	G	4: 123,432,779	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,884,016	I900T	probably damaging	Het
Med16	A	T	10: 79,900,200	N371K	possibly damaging	Het
Mepce	A	C	5: 137,785,436	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,347,866	P1249R	probably benign	Het
Mx2	A	T	16: 97,556,095	I463L	probably benign	Het
Naaa	A	T	5: 92,265,135	N73K	probably damaging	Het
Nags	T	A	11: 102,147,945	L404Q	probably damaging	Het
Neb	A	G	2: 52,243,390	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,472,985	E120G	probably damaging	Het
Olfr1276	A	C	2: 111,257,121	N2T	probably benign	Het
Olfr561	C	A	7: 102,774,869	S115*	probably null	Het
Olfr615	T	A	7: 103,560,622	Y48*	probably null	Het
Olfr643	T	C	7: 104,059,521	H27R	probably benign	Het
Olfr736	T	C	14: 50,393,079	S108P	probably damaging	Het
Pcnt	A	G	10: 76,392,580	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,167,935	V243I	probably damaging	Het
Polr2a	T	C	11: 69,743,671	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,324,224		probably benign	Het
Prmt8	C	A	6: 127,711,808	V200L	probably damaging	Het
Prpf8	T	A	11: 75,506,362	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,728,150	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,563,148	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,262,847	T1330I	probably damaging	Het
Reep3	G	T	10: 67,021,796	T172N	probably benign	Het
Rfwd3	A	G	8: 111,294,023	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,552	I121V	probably damaging	Het
Robo1	T	A	16: 72,664,170	F11I	probably benign	Het
Rsrc2	A	G	5: 123,740,847		probably benign	Het
Rubcn	A	G	16: 32,847,946	V117A	probably benign	Het
Scamp1	T	G	13: 94,210,580	N192T	probably benign	Het
Scn8a	T	A	15: 101,018,364	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,523,208	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,334,591	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,997,245		probably null	Het
Slc5a4b	T	C	10: 76,070,628	M386V	possibly damaging	Het
Smarca5	A	G	8: 80,704,700	F963L	probably benign	Het
Smchd1	A	T	17: 71,411,891	F828I	probably benign	Het
Stab2	G	T	10: 86,897,960	Q1333K	probably benign	Het
Svop	T	C	5: 114,038,539	S349G	probably benign	Het
Tdrd1	G	A	19: 56,842,566	S271N	probably benign	Het
Tec	T	C	5: 72,763,556		probably benign	Het
Tec	G	A	5: 72,783,738	P159S	probably benign	Het
Tfip11	G	A	5: 112,335,655	M645I	probably benign	Het
Thap12	A	T	7: 98,715,281	T219S	probably benign	Het
Tmem87a	C	T	2: 120,375,507	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,343,745	Y227H	probably damaging	Het
Urah	G	A	7: 140,837,689	V114I	probably benign	Het
Zfp101	A	T	17: 33,380,978	H601Q	possibly damaging	Het

Other mutations in Wnt5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Wnt5a	APN	14	28522909	missense	probably damaging	1.00
IGL01945:Wnt5a	APN	14	28518562	missense	probably damaging	1.00
IGL02117:Wnt5a	APN	14	28506120	splice site	probably benign
IGL02995:Wnt5a	APN	14	28522914	missense	probably benign	0.02
IGL03123:Wnt5a	APN	14	28522925	missense	probably damaging	1.00
Thrush	UTSW	14	28518463	missense	possibly damaging	0.78
R0277:Wnt5a	UTSW	14	28513268	missense	possibly damaging	0.74
R0365:Wnt5a	UTSW	14	28518504	nonsense	probably null
R1472:Wnt5a	UTSW	14	28518504	nonsense	probably null
R1661:Wnt5a	UTSW	14	28518343	missense	probably benign	0.02
R1662:Wnt5a	UTSW	14	28518343	missense	probably benign	0.02
R1762:Wnt5a	UTSW	14	28522891	missense	probably damaging	1.00
R1791:Wnt5a	UTSW	14	28511878	start codon destroyed	probably null	0.00
R1933:Wnt5a	UTSW	14	28511845	missense	probably benign	0.00
R2147:Wnt5a	UTSW	14	28513317	missense	probably damaging	1.00
R2149:Wnt5a	UTSW	14	28513317	missense	probably damaging	1.00
R3078:Wnt5a	UTSW	14	28513183	nonsense	probably null
R3162:Wnt5a	UTSW	14	28522488	missense	probably benign	0.00
R3162:Wnt5a	UTSW	14	28522488	missense	probably benign	0.00
R4237:Wnt5a	UTSW	14	28522866	missense	probably damaging	1.00
R5396:Wnt5a	UTSW	14	28522770	missense	probably damaging	1.00
R6329:Wnt5a	UTSW	14	28518492	nonsense	probably null
R6698:Wnt5a	UTSW	14	28518463	missense	possibly damaging	0.78
R6974:Wnt5a	UTSW	14	28522570	missense	possibly damaging	0.89
R7114:Wnt5a	UTSW	14	28522756	missense	probably damaging	1.00
R7232:Wnt5a	UTSW	14	28518372	missense	probably benign	0.03
R7457:Wnt5a	UTSW	14	28518279	splice site	probably null
R7666:Wnt5a	UTSW	14	28518372	missense	possibly damaging	0.88
R8273:Wnt5a	UTSW	14	28522605	missense	probably damaging	1.00
R8349:Wnt5a	UTSW	14	28513151	missense	probably benign	0.00
R8449:Wnt5a	UTSW	14	28513151	missense	probably benign	0.00
T0722:Wnt5a	UTSW	14	28511925	missense	probably benign	0.01
Z1088:Wnt5a	UTSW	14	28522728	missense	probably damaging	0.99
Z1176:Wnt5a	UTSW	14	28511907	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTCAACAGCCGCTTCAACTC -3'
(R):5'- AGCACCTGCAATTCATTTTGGTCAC -3'

Sequencing Primer
(F):5'- CGCTTCAACTCCCCGAC -3'
(R):5'- aaacaaaacaaaacaCATGGTTCCAG -3'

Posted On

2013-05-09