Mutagenetix > Incidental Mutation

Incidental Mutation 'R1662:Wnt5a'

186875

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

039698-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1662 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

28226707-28249405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28240300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 150 (M150T)

Ref Sequence

ENSEMBL: ENSMUSP00000064878 (fasta)

Gene Model

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

AlphaFold

P22725

Predicted Effect

probably benign
Transcript: ENSMUST00000063465
AA Change: M150T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: M150T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112272
AA Change: M130T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994
AA Change: M130T

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,505,475 (GRCm39)	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,581,967 (GRCm39)	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251 (GRCm39)		probably null	Het
Aff1	G	A	5: 103,988,923 (GRCm39)	G830D	probably damaging	Het
AI987944	T	C	7: 41,023,873 (GRCm39)	T369A	possibly damaging	Het
Aoah	A	G	13: 21,184,283 (GRCm39)		probably null	Het
Arhgap40	C	G	2: 158,381,190 (GRCm39)	C349W	probably damaging	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Barhl2	A	T	5: 106,601,365 (GRCm39)	M338K	probably benign	Het
Btd	T	C	14: 31,388,747 (GRCm39)	V156A	probably damaging	Het
Catspere2	A	G	1: 177,874,552 (GRCm39)	K140E	unknown	Het
Ccdc82	T	C	9: 13,262,397 (GRCm39)	V319A	probably damaging	Het
Celsr1	G	T	15: 85,915,263 (GRCm39)	N903K	probably damaging	Het
Cenpf	T	A	1: 189,389,968 (GRCm39)	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,086,857 (GRCm39)	T252I	probably benign	Het
Cma2	T	C	14: 56,210,573 (GRCm39)	C87R	probably damaging	Het
Cops7a	T	A	6: 124,939,401 (GRCm39)	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,639,613 (GRCm39)	M205L	possibly damaging	Het
Dcc	A	G	18: 71,553,409 (GRCm39)	L749P	probably benign	Het
Dync1i2	C	T	2: 71,081,323 (GRCm39)	T484I	possibly damaging	Het
Epas1	A	T	17: 87,136,455 (GRCm39)	K742N	probably damaging	Het
Evc2	A	G	5: 37,506,094 (GRCm39)	T138A	probably benign	Het
F5	T	C	1: 164,035,457 (GRCm39)	I1877T	probably damaging	Het
Fat1	T	G	8: 45,406,201 (GRCm39)	V984G	probably benign	Het
Fat4	T	A	3: 39,034,928 (GRCm39)	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,436,427 (GRCm39)	R120H	probably damaging	Het
Gcnt3	T	C	9: 69,941,659 (GRCm39)	D303G	probably benign	Het
Gng11	A	T	6: 4,008,066 (GRCm39)	Y43F	probably benign	Het
Hectd4	A	C	5: 121,455,308 (GRCm39)	M651L	probably benign	Het
Ifngr2	T	A	16: 91,357,484 (GRCm39)	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,005,708 (GRCm39)	V512A	probably benign	Het
Kdm2a	A	C	19: 4,378,240 (GRCm39)	D187E	probably damaging	Het
Klhl8	A	G	5: 104,019,911 (GRCm39)	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,747,967 (GRCm39)		probably benign	Het
Krt12	C	A	11: 99,311,650 (GRCm39)	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,754,623 (GRCm39)	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	C	G	2: 121,136,889 (GRCm39)	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,532,593 (GRCm39)	Q301K	probably damaging	Het
Med12l	A	T	3: 59,001,038 (GRCm39)	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Mybph	C	T	1: 134,121,374 (GRCm39)	P45S	probably benign	Het
Myo15a	T	A	11: 60,392,527 (GRCm39)	S2157T	probably damaging	Het
Or14j2	G	T	17: 37,886,164 (GRCm39)	T50K	probably damaging	Het
Or1ab2	T	C	8: 72,863,623 (GRCm39)	V71A	probably benign	Het
Or2t35	T	A	14: 14,407,880 (GRCm38)	Y217*	probably null	Het
Or5h25	T	C	16: 58,930,967 (GRCm39)	E2G	probably benign	Het
Otogl	A	G	10: 107,634,218 (GRCm39)	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,601,667 (GRCm39)	F118L	probably damaging	Het
Pak5	T	C	2: 135,958,680 (GRCm39)	D136G	probably damaging	Het
Pik3r2	T	C	8: 71,223,250 (GRCm39)	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,254,052 (GRCm39)	N372S	probably benign	Het
Prss30	G	T	17: 24,191,806 (GRCm39)	N238K	possibly damaging	Het
Prss33	C	A	17: 24,053,785 (GRCm39)		probably null	Het
Ptpn4	T	C	1: 119,692,788 (GRCm39)	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357 (GRCm38)	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,558,324 (GRCm39)	V130A	probably benign	Het
Rdh7	A	T	10: 127,724,481 (GRCm39)	M1K	probably null	Het
Rtp3	A	C	9: 110,815,751 (GRCm39)	S205A	probably benign	Het
Ryr3	G	T	2: 112,539,618 (GRCm39)	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,313,803 (GRCm39)	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,501,551 (GRCm39)	V122A	probably benign	Het
Slc15a4	A	G	5: 127,686,043 (GRCm39)	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,725,173 (GRCm39)	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,864,442 (GRCm39)	D530G	probably benign	Het
Tcf25	T	A	8: 124,108,289 (GRCm39)	S115T	probably benign	Het
Tet2	A	G	3: 133,172,613 (GRCm39)	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,211,105 (GRCm39)	R205*	probably null	Het
Ttc23	G	T	7: 67,375,069 (GRCm39)		probably null	Het
Tut7	T	C	13: 59,947,717 (GRCm39)	E466G	possibly damaging	Het
Unc13d	T	C	11: 115,959,499 (GRCm39)	K658R	probably null	Het
Vmn1r43	A	G	6: 89,846,572 (GRCm39)	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,551 (GRCm39)	C677S	probably benign	Het
Ythdc1	G	A	5: 86,975,981 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,343,408 (GRCm39)	R596*	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
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'- GAACTGTTTGCTCCCGTGTTTTGAC -3'
(R):5'- TGCGCTCTCATAGGAACCCTTAGC -3'

Sequencing Primer
(F):5'- TTCAAGGCCAGAGTGCTG -3'
(R):5'- ATAGTCGATGTTGTCTCCGC -3'

Posted On

2014-05-09