Mutagenetix > Incidental Mutation

Incidental Mutation 'R0365:Wnt5a'

36372

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

038571-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0365 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28226707-28249405 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 28240461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 184 (R184*)

Ref Sequence

ENSEMBL: ENSMUSP00000107891 (fasta)

Gene Model

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

AlphaFold

P22725

Predicted Effect

probably null
Transcript: ENSMUST00000063465
AA Change: R204*

SMART Domains

Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: R204*

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

Predicted Effect

probably null
Transcript: ENSMUST00000112272
AA Change: R184*

SMART Domains

Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994
AA Change: R184*

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: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,088 (GRCm39)	M173K	probably benign	Het
Abcb1b	T	A	5: 8,856,009 (GRCm39)	F39Y	probably damaging	Het
Acbd3	A	G	1: 180,566,177 (GRCm39)	Y290C	probably damaging	Het
Alg12	A	C	15: 88,700,352 (GRCm39)	I28R	possibly damaging	Het
Amer2	A	T	14: 60,616,984 (GRCm39)	D393V	probably damaging	Het
Anxa5	A	T	3: 36,511,618 (GRCm39)	V153D	probably damaging	Het
Arl5a	T	C	2: 52,306,141 (GRCm39)	M64V	probably benign	Het
Astn1	T	C	1: 158,516,118 (GRCm39)	L1236P	probably damaging	Het
Atg2a	T	C	19: 6,297,713 (GRCm39)	S424P	possibly damaging	Het
AW551984	A	T	9: 39,510,617 (GRCm39)	S239R	probably benign	Het
Baz1b	T	C	5: 135,268,985 (GRCm39)	V1278A	probably benign	Het
Cbfa2t3	G	T	8: 123,361,799 (GRCm39)	L408I	probably benign	Het
Cdc27	A	T	11: 104,419,250 (GRCm39)	N227K	possibly damaging	Het
Cdh20	A	T	1: 110,036,486 (GRCm39)	Q555H	probably damaging	Het
Cdh23	T	A	10: 60,215,094 (GRCm39)	N1412I	probably damaging	Het
Cdhr2	T	C	13: 54,866,105 (GRCm39)	S302P	probably benign	Het
Cep350	C	A	1: 155,782,317 (GRCm39)	E1563D	probably benign	Het
Cfap221	T	A	1: 119,912,753 (GRCm39)	E107V	probably benign	Het
Col6a3	C	A	1: 90,715,938 (GRCm39)	R1641L	unknown	Het
Coro6	A	T	11: 77,354,916 (GRCm39)	I60F	probably benign	Het
Dennd2b	A	T	7: 109,138,156 (GRCm39)	V753E	probably damaging	Het
Dock10	G	T	1: 80,573,400 (GRCm39)	N245K	probably damaging	Het
Epb41l2	T	A	10: 25,345,119 (GRCm39)	N286K	probably damaging	Het
Fam83g	G	T	11: 61,593,935 (GRCm39)	E490*	probably null	Het
Gnb1l	T	C	16: 18,371,211 (GRCm39)	I234T	possibly damaging	Het
Gtf3a	T	A	5: 146,885,747 (GRCm39)	W53R	probably damaging	Het
Ikzf4	T	C	10: 128,470,276 (GRCm39)	I415V	probably benign	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Il17ra	G	A	6: 120,455,410 (GRCm39)	V340M	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kif24	A	T	4: 41,428,731 (GRCm39)	H76Q	probably benign	Het
Klhl25	T	C	7: 75,516,264 (GRCm39)	L390P	probably damaging	Het
Klhl26	T	C	8: 70,904,479 (GRCm39)	D443G	probably damaging	Het
Lama3	A	T	18: 12,640,064 (GRCm39)	R86S	probably damaging	Het
Lrrc24	G	A	15: 76,599,984 (GRCm39)	A385V	probably benign	Het
Maea	C	T	5: 33,517,787 (GRCm39)	A109V	probably benign	Het
Mtor	A	T	4: 148,570,507 (GRCm39)	Y1188F	probably benign	Het
Nccrp1	T	C	7: 28,243,977 (GRCm39)	D202G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Nup155	C	T	15: 8,161,027 (GRCm39)	R571W	probably damaging	Het
Nup160	T	A	2: 90,539,188 (GRCm39)	M789K	probably benign	Het
Odad2	T	A	18: 7,217,800 (GRCm39)	H638L	probably benign	Het
Or5an1c	A	G	19: 12,218,440 (GRCm39)	F195S	probably benign	Het
Or5p50	A	T	7: 107,422,124 (GRCm39)	L184*	probably null	Het
Or8d2b	A	T	9: 38,788,481 (GRCm39)	H3L	probably benign	Het
Pgpep1	G	T	8: 71,105,174 (GRCm39)		probably null	Het
Pkd1l2	C	T	8: 117,748,589 (GRCm39)	V1861M	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plin4	G	T	17: 56,411,667 (GRCm39)	T788K	possibly damaging	Het
Ppp3r2	T	C	4: 49,681,902 (GRCm39)	D16G	possibly damaging	Het
Pramel22	G	T	4: 143,382,071 (GRCm39)	Y208*	probably null	Het
Prdm16	A	T	4: 154,426,513 (GRCm39)	I424N	probably damaging	Het
Psen2	T	A	1: 180,056,410 (GRCm39)	I396F	probably damaging	Het
Psip1	C	T	4: 83,403,949 (GRCm39)		probably null	Het
Ptprd	G	A	4: 76,055,083 (GRCm39)	T215I	probably damaging	Het
Rec114	A	G	9: 58,648,822 (GRCm39)	S2P	probably benign	Het
Rexo1	A	G	10: 80,378,410 (GRCm39)	I1181T	probably damaging	Het
Rfx7	T	C	9: 72,527,118 (GRCm39)	M1436T	probably benign	Het
Rnf213	T	A	11: 119,316,937 (GRCm39)	V1020E	possibly damaging	Het
Rorc	G	A	3: 94,296,069 (GRCm39)	G83S	probably damaging	Het
Ryr2	T	G	13: 11,683,725 (GRCm39)	Q3113P	possibly damaging	Het
Shank1	T	C	7: 44,003,401 (GRCm39)	S1698P	possibly damaging	Het
Slc2a2	T	C	3: 28,762,828 (GRCm39)		probably null	Het
Slc5a9	A	T	4: 111,749,033 (GRCm39)	Y98*	probably null	Het
Smc6	T	C	12: 11,333,175 (GRCm39)		probably null	Het
Sptb	G	T	12: 76,647,157 (GRCm39)	F1959L	probably benign	Het
Srgap1	T	A	10: 121,621,610 (GRCm39)	H984L	possibly damaging	Het
Ssc5d	T	A	7: 4,931,466 (GRCm39)	C224*	probably null	Het
Ston2	A	T	12: 91,614,634 (GRCm39)	H591Q	probably benign	Het
Tbx3	C	T	5: 119,813,315 (GRCm39)	A222V	possibly damaging	Het
Thsd7a	A	G	6: 12,321,886 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,364,732 (GRCm39)	D1027G	probably damaging	Het
Zfpm2	A	G	15: 40,637,462 (GRCm39)	E74G	possibly damaging	Het
Zwint	C	A	10: 72,493,127 (GRCm39)	S223*	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
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
R5396:Wnt5a	UTSW	14	28,244,727 (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'- GTGACCCCTCATCCTTAATCGCAG -3'
(R):5'- ACAGATAGGCCAAGGTATGAGTATCCG -3'

Sequencing Primer
(F):5'- TCCTTAATCGCAGGCAGC -3'
(R):5'- ACCTGAACTGAGGGGGC -3'

Posted On

2013-05-09