Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Wnt5a'

233948

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

040150-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28226707-28249405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28235274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 86 (Y86C)

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: Y106C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: Y106C

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: Y86C

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

SMART Domains

Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994
AA Change: Y86C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180668

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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
4930523C07Rik	T	A	1: 159,903,003 (GRCm39)	M91K	probably benign	Het
Abr	T	C	11: 76,346,474 (GRCm39)	R437G	probably damaging	Het
Acaca	T	G	11: 84,167,362 (GRCm39)	D1045E	probably benign	Het
Adam23	A	T	1: 63,573,521 (GRCm39)		probably null	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Alg11	G	A	8: 22,555,309 (GRCm39)	G108D	probably damaging	Het
Alox12e	A	T	11: 70,210,771 (GRCm39)	I316N	probably damaging	Het
Arid1a	A	T	4: 133,408,677 (GRCm39)	F1943L	unknown	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC035044	T	C	6: 128,867,867 (GRCm39)		probably benign	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccnf	A	T	17: 24,449,288 (GRCm39)		probably null	Het
Cdadc1	A	G	14: 59,835,202 (GRCm39)		probably null	Het
Cep57l1	A	G	10: 41,616,895 (GRCm39)	Y131H	probably damaging	Het
Cfap251	T	C	5: 123,394,254 (GRCm39)	V381A	probably benign	Het
Cfap44	A	G	16: 44,272,047 (GRCm39)	R1267G	probably benign	Het
Chd3	A	T	11: 69,239,854 (GRCm39)	L1658Q	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chpf2	T	A	5: 24,797,033 (GRCm39)	F660I	probably damaging	Het
Cmas	T	A	6: 142,717,015 (GRCm39)	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562 (GRCm39)	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dennd3	T	G	15: 73,395,336 (GRCm39)	L143R	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,855,024 (GRCm39)		probably null	Het
Fbxl15	A	T	19: 46,317,627 (GRCm39)	D103V	probably damaging	Het
Gm4781	C	A	10: 100,232,414 (GRCm39)		noncoding transcript	Het
Hpca	A	G	4: 129,012,278 (GRCm39)	I86T	possibly damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lipe	G	T	7: 25,087,946 (GRCm39)	A38E	probably benign	Het
Lrrk1	A	T	7: 65,935,159 (GRCm39)		probably null	Het
Lrsam1	T	C	2: 32,835,891 (GRCm39)	K292R	probably damaging	Het
Mbtps1	A	T	8: 120,265,598 (GRCm39)	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063 (GRCm39)	Y525*	probably null	Het
Mrps14	T	C	1: 160,022,862 (GRCm39)	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo15a	A	G	11: 60,401,055 (GRCm39)	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,966,543 (GRCm39)	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,451,243 (GRCm39)	F42I	probably benign	Het
Or5k8	T	A	16: 58,644,842 (GRCm39)	I77F	probably damaging	Het
Pank1	T	C	19: 34,804,754 (GRCm39)	H134R	probably benign	Het
Pcdh7	T	A	5: 58,286,458 (GRCm39)	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,717,633 (GRCm39)	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pitpnc1	C	T	11: 107,103,344 (GRCm39)	A252T	probably damaging	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Prpf8	A	G	11: 75,381,357 (GRCm39)	I231V	probably benign	Het
Scin	T	A	12: 40,130,984 (GRCm39)	M310L	probably benign	Het
Serpina3m	T	A	12: 104,355,483 (GRCm39)	I50N	probably benign	Het
Skint8	C	G	4: 111,794,274 (GRCm39)	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,366,990 (GRCm39)	V673M	probably benign	Het
Slc24a5	A	G	2: 124,929,361 (GRCm39)	D368G	probably damaging	Het
Slc28a1	A	T	7: 80,776,015 (GRCm39)	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,705,583 (GRCm39)	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,262,717 (GRCm39)	Y320H	probably damaging	Het
Syne3	T	A	12: 104,919,357 (GRCm39)	D512V	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,601,701 (GRCm39)	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,223,861 (GRCm39)	I217V	probably benign	Het
Tmem45b	A	G	9: 31,340,277 (GRCm39)	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,412,456 (GRCm39)	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,840,116 (GRCm39)	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,132,139 (GRCm39)	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,694,811 (GRCm39)	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,114,583 (GRCm39)	I82M	probably benign	Het
Vmn2r129	T	C	4: 156,687,014 (GRCm39)		noncoding transcript	Het
Vps41	G	T	13: 19,023,904 (GRCm39)		probably null	Het
Zfp629	T	C	7: 127,209,616 (GRCm39)	H731R	probably damaging	Het
Zfp712	T	C	13: 67,189,960 (GRCm39)	E189G	possibly damaging	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
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'- GGGAGCTACCTCTAGAGTTCAC -3'
(R):5'- CATCACCCAGGCTGTAAAGC -3'

Sequencing Primer
(F):5'- TGCAGGTCTCTAGGTATGAATAACCC -3'
(R):5'- GCAGACAGCTCATCAAACATTG -3'

Posted On

2014-10-01