Mutagenetix > Incidental Mutation

Incidental Mutation 'R5396:Wnt5a'

429703

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

044394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28226707-28249405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28244727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 305 (C305R)

Ref Sequence

ENSEMBL: ENSMUSP00000107891 (fasta)

Gene Model

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

AlphaFold

P22725

Predicted Effect

probably damaging
Transcript: ENSMUST00000063465
AA Change: C325R

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

SMART Domains

Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: C325R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112272
AA Change: C305R

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

SMART Domains

Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994
AA Change: C305R

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	C	2: 127,028,873 (GRCm39)	T109A	probably damaging	Het
A430005L14Rik	GCC	G	4: 154,045,410 (GRCm39)		probably null	Het
Actr1a	T	C	19: 46,384,103 (GRCm39)	D5G	possibly damaging	Het
Adra2c	A	G	5: 35,438,217 (GRCm39)	T330A	probably benign	Het
Ahcyl2	C	T	6: 29,859,697 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,984,539 (GRCm39)	V1941A	probably damaging	Het
Akr1b7	G	A	6: 34,389,411 (GRCm39)		probably null	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ank2	A	G	3: 126,746,875 (GRCm39)	V570A	probably damaging	Het
Ano4	T	C	10: 88,948,702 (GRCm39)	E302G	probably damaging	Het
Bop1	A	T	15: 76,339,489 (GRCm39)	H285Q	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Catsperb	A	T	12: 101,560,543 (GRCm39)	I845L	possibly damaging	Het
Ccdc28b	G	T	4: 129,513,238 (GRCm39)	Q184K	probably damaging	Het
Cd101	A	G	3: 100,926,126 (GRCm39)	S198P	probably damaging	Het
Cdc7	A	T	5: 107,117,163 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,884,269 (GRCm39)	D1268G	probably benign	Het
Celsr3	C	T	9: 108,705,781 (GRCm39)	R755W	probably damaging	Het
Chrnb1	T	A	11: 69,684,979 (GRCm39)	N117I	probably damaging	Het
Chst11	C	A	10: 83,027,083 (GRCm39)	P170Q	probably damaging	Het
Clca3b	A	G	3: 144,552,932 (GRCm39)	Y98H	probably damaging	Het
Crnkl1	A	G	2: 145,770,132 (GRCm39)	V237A	possibly damaging	Het
Ctnnbl1	G	A	2: 157,659,752 (GRCm39)		probably null	Het
Dbndd1	C	A	8: 124,236,582 (GRCm39)	R95S	probably damaging	Het
Ddx3y	A	G	Y: 1,265,965 (GRCm39)	V344A	probably damaging	Het
Defb30	A	T	14: 63,273,559 (GRCm39)		probably null	Het
Dennd10	T	C	19: 60,823,274 (GRCm39)	L303P	probably benign	Het
Dnah17	C	T	11: 118,018,108 (GRCm39)	R129Q	probably benign	Het
Dnhd1	A	T	7: 105,362,891 (GRCm39)	M3818L	probably benign	Het
Dusp4	G	T	8: 35,284,458 (GRCm39)	D258Y	probably damaging	Het
E2f1	A	T	2: 154,406,368 (GRCm39)	F103I	probably benign	Het
Elavl2	T	C	4: 91,149,055 (GRCm39)	Y248C	probably damaging	Het
Ephb3	T	C	16: 21,037,855 (GRCm39)	V310A	possibly damaging	Het
Erbin	A	G	13: 103,993,917 (GRCm39)		probably null	Het
Etv4	A	T	11: 101,666,167 (GRCm39)	H120Q	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,608 (GRCm39)	F474L	probably benign	Het
Flot2	T	A	11: 77,940,314 (GRCm39)	C20*	probably null	Het
Fsip2	G	A	2: 82,821,262 (GRCm39)	G5665D	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Glrp1	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	1: 88,431,066 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,427,955 (GRCm39)	L202*	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hnf1b	A	T	11: 83,746,863 (GRCm39)	M160L	probably damaging	Het
Inhbe	T	C	10: 127,186,470 (GRCm39)	T237A	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kmt2c	A	T	5: 25,499,732 (GRCm39)		probably null	Het
Kyat3	A	G	3: 142,440,367 (GRCm39)	K364E	probably benign	Het
Lars1	T	A	18: 42,350,024 (GRCm39)	T927S	probably benign	Het
Mfap1b	A	T	2: 121,304,371 (GRCm39)	M8K	probably benign	Het
Mroh8	G	A	2: 157,070,576 (GRCm39)	P592S	possibly damaging	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1x6	C	T	11: 50,939,297 (GRCm39)	A121V	probably damaging	Het
Or4c110	A	T	2: 88,832,540 (GRCm39)	L31M	probably benign	Het
Or51a24	T	C	7: 103,734,098 (GRCm39)	Y63C	probably benign	Het
Pcdha8	T	A	18: 37,126,787 (GRCm39)	V423E	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pde8a	T	C	7: 80,983,170 (GRCm39)	V791A	probably damaging	Het
Pds5a	A	G	5: 65,795,920 (GRCm39)	S657P	probably benign	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Rad51d	A	G	11: 82,781,196 (GRCm39)	V17A	possibly damaging	Het
Sdc1	A	T	12: 8,841,743 (GRCm39)		probably null	Het
Sdcbp2	T	A	2: 151,429,057 (GRCm39)	I152N	probably damaging	Het
Slc4a4	G	T	5: 89,194,076 (GRCm39)	M141I	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spata6	T	C	4: 111,656,315 (GRCm39)	C320R	probably damaging	Het
Spata6l	T	C	19: 28,905,089 (GRCm39)	H325R	possibly damaging	Het
Ssu2	T	A	6: 112,357,957 (GRCm39)	T129S	probably damaging	Het
Stat5a	T	A	11: 100,771,409 (GRCm39)	W631R	probably damaging	Het
Sult1c2	T	A	17: 54,143,939 (GRCm39)	N122I	possibly damaging	Het
Synpo2	G	A	3: 122,911,331 (GRCm39)	Q105*	probably null	Het
Tert	G	A	13: 73,787,362 (GRCm39)	V783I	probably damaging	Het
Ticam1	G	T	17: 56,578,117 (GRCm39)	T326K	probably benign	Het
Tmem63b	T	C	17: 45,980,888 (GRCm39)	M269V	possibly damaging	Het
Tmem86a	T	A	7: 46,702,794 (GRCm39)	V73E	possibly damaging	Het
Trpv4	G	A	5: 114,761,675 (GRCm39)	R818C	possibly damaging	Het
Tstd2	A	G	4: 46,135,542 (GRCm39)	S4P	probably benign	Het
Ttn	A	T	2: 76,644,715 (GRCm39)	V4686E	probably damaging	Het
Ubash3b	A	G	9: 40,954,769 (GRCm39)		probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Usp33	A	G	3: 152,089,824 (GRCm39)	E780G	possibly damaging	Het
Vapb	T	A	2: 173,613,336 (GRCm39)	Y78*	probably null	Het
Vps13b	G	A	15: 35,887,094 (GRCm39)	R3227Q	probably damaging	Het
Vps33a	A	T	5: 123,696,693 (GRCm39)	I320N	probably damaging	Het
Zbtb38	A	G	9: 96,569,696 (GRCm39)	C463R	probably damaging	Het
Zc3h12d	G	A	10: 7,742,090 (GRCm39)	C263Y	probably damaging	Het
Zfp971	G	A	2: 177,675,526 (GRCm39)	R375Q	probably damaging	Het
Znrf1	T	A	8: 112,345,826 (GRCm39)		probably null	Het

Other mutations in Wnt5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Wnt5a	APN	14	28,244,866 (GRCm39)	missense	probably damaging	1.00
IGL01945:Wnt5a	APN	14	28,240,519 (GRCm39)	missense	probably damaging	1.00
IGL02117:Wnt5a	APN	14	28,228,077 (GRCm39)	splice site	probably benign
IGL02995:Wnt5a	APN	14	28,244,871 (GRCm39)	missense	probably benign	0.02
IGL03123:Wnt5a	APN	14	28,244,882 (GRCm39)	missense	probably damaging	1.00
Thrush	UTSW	14	28,240,420 (GRCm39)	missense	possibly damaging	0.78
R0254:Wnt5a	UTSW	14	28,244,811 (GRCm39)	missense	probably damaging	1.00
R0277:Wnt5a	UTSW	14	28,235,225 (GRCm39)	missense	possibly damaging	0.74
R0365:Wnt5a	UTSW	14	28,240,461 (GRCm39)	nonsense	probably null
R1472:Wnt5a	UTSW	14	28,240,461 (GRCm39)	nonsense	probably null
R1661:Wnt5a	UTSW	14	28,240,300 (GRCm39)	missense	probably benign	0.02
R1662:Wnt5a	UTSW	14	28,240,300 (GRCm39)	missense	probably benign	0.02
R1762:Wnt5a	UTSW	14	28,244,848 (GRCm39)	missense	probably damaging	1.00
R1791:Wnt5a	UTSW	14	28,233,835 (GRCm39)	start codon destroyed	probably null	0.00
R1933:Wnt5a	UTSW	14	28,233,802 (GRCm39)	missense	probably benign	0.00
R2147:Wnt5a	UTSW	14	28,235,274 (GRCm39)	missense	probably damaging	1.00
R2149:Wnt5a	UTSW	14	28,235,274 (GRCm39)	missense	probably damaging	1.00
R3078:Wnt5a	UTSW	14	28,235,140 (GRCm39)	nonsense	probably null
R3162:Wnt5a	UTSW	14	28,244,445 (GRCm39)	missense	probably benign	0.00
R3162:Wnt5a	UTSW	14	28,244,445 (GRCm39)	missense	probably benign	0.00
R4237:Wnt5a	UTSW	14	28,244,823 (GRCm39)	missense	probably damaging	1.00
R6329:Wnt5a	UTSW	14	28,240,449 (GRCm39)	nonsense	probably null
R6698:Wnt5a	UTSW	14	28,240,420 (GRCm39)	missense	possibly damaging	0.78
R6974:Wnt5a	UTSW	14	28,244,527 (GRCm39)	missense	possibly damaging	0.89
R7114:Wnt5a	UTSW	14	28,244,713 (GRCm39)	missense	probably damaging	1.00
R7232:Wnt5a	UTSW	14	28,240,329 (GRCm39)	missense	probably benign	0.03
R7457:Wnt5a	UTSW	14	28,240,236 (GRCm39)	splice site	probably null
R7666:Wnt5a	UTSW	14	28,240,329 (GRCm39)	missense	possibly damaging	0.88
R8273:Wnt5a	UTSW	14	28,244,562 (GRCm39)	missense	probably damaging	1.00
R8349:Wnt5a	UTSW	14	28,235,108 (GRCm39)	missense	probably benign	0.00
R8449:Wnt5a	UTSW	14	28,235,108 (GRCm39)	missense	probably benign	0.00
R9135:Wnt5a	UTSW	14	28,240,309 (GRCm39)	missense	probably benign	0.27
R9602:Wnt5a	UTSW	14	28,240,295 (GRCm39)	missense	probably benign	0.31
T0722:Wnt5a	UTSW	14	28,233,882 (GRCm39)	missense	probably benign	0.01
Z1088:Wnt5a	UTSW	14	28,244,685 (GRCm39)	missense	probably damaging	0.99
Z1176:Wnt5a	UTSW	14	28,233,864 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTAGCCTCAAGACGTGCTG -3'
(R):5'- CACTATTTGCACACGAACTGATC -3'

Sequencing Primer
(F):5'- TGCCCTCAAGGAGAAGTATGATAGC -3'
(R):5'- GAACTGATCCACAATCTCCGTG -3'

Posted On

2016-09-06