Incidental Mutation 'R4237:Wnt5a'
ID 321192
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 041054-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4237 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 28226707-28249405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28244823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 357 (C357R)
Ref Sequence ENSEMBL: ENSMUSP00000064878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063465] [ENSMUST00000112272]
AlphaFold P22725
Predicted Effect probably damaging
Transcript: ENSMUST00000063465
AA Change: C357R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: C357R

DomainStartEndE-ValueType
Blast:WNT1 1 46 7e-6 BLAST
WNT1 71 380 6.71e-222 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112272
AA Change: C337R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994
AA Change: C337R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
WNT1 51 360 6.71e-222 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134163
Meta Mutation Damage Score 0.9537 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (44/44)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
6820408C15Rik C T 2: 152,270,873 (GRCm39) T32I possibly damaging Het
Abca13 A G 11: 9,384,188 (GRCm39) K3880R probably benign Het
Ahnak C T 19: 8,979,147 (GRCm39) L144F probably benign Het
Antxr2 A T 5: 98,086,266 (GRCm39) I447N probably damaging Het
Cdc20 C T 4: 118,290,257 (GRCm39) R468Q probably damaging Het
Clip2 A G 5: 134,564,051 (GRCm39) probably benign Het
Cntnap2 A T 6: 46,507,324 (GRCm39) probably benign Het
Ddi1 A G 9: 6,265,799 (GRCm39) M190T probably benign Het
Dicer1 A G 12: 104,695,487 (GRCm39) V148A possibly damaging Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Galnt11 G A 5: 25,470,258 (GRCm39) R569Q probably benign Het
Gpr6 T C 10: 40,946,604 (GRCm39) N326S probably damaging Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
L3mbtl3 G A 10: 26,216,846 (GRCm39) A181V unknown Het
Lrrc37a G A 11: 103,393,115 (GRCm39) T770I probably damaging Het
Or12e8 T C 2: 87,188,597 (GRCm39) S270P probably damaging Het
Or2d2 A G 7: 106,728,244 (GRCm39) S119P probably damaging Het
Or6a2 T C 7: 106,600,536 (GRCm39) N177S probably damaging Het
Or7g32 C T 9: 19,388,893 (GRCm39) V215I probably benign Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Ppp1r13b T C 12: 111,805,170 (GRCm39) T181A probably benign Het
Prc1 G A 7: 79,960,964 (GRCm39) probably benign Het
Proca1 A G 11: 78,095,752 (GRCm39) N128S probably benign Het
Psmd8 G A 7: 28,876,546 (GRCm39) P155L probably damaging Het
Rad54l A G 4: 115,956,646 (GRCm39) V500A probably damaging Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Serpinb10 C T 1: 107,466,179 (GRCm39) T55M probably benign Het
Sipa1l2 T C 8: 126,218,395 (GRCm39) E314G probably benign Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Tdrd9 C T 12: 112,034,059 (GRCm39) R1334* probably null Het
Trank1 A G 9: 111,196,103 (GRCm39) I1376V probably benign Het
Trim28 T A 7: 12,761,838 (GRCm39) H268Q possibly damaging Het
Vmn2r76 T A 7: 85,879,740 (GRCm39) I187L probably benign Het
Wdr95 A T 5: 149,486,802 (GRCm39) R160* probably null Het
Zfp157 A G 5: 138,445,803 (GRCm39) I53V probably damaging Het
Zfp184 G A 13: 22,142,948 (GRCm39) R218H probably damaging Het
Other mutations in Wnt5a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCCTCAAGGAGAAGTATGATAGC -3'
(R):5'- TCCAGCTGCAATTCTTGGGG -3'

Sequencing Primer
(F):5'- ACGCAGGACCTGGTCTACATC -3'
(R):5'- TTCTTGGGGGAGAAATAAAAAGAACC -3'
Posted On 2015-06-12