Incidental Mutation 'R0277:Wnt5a'
ID 24424
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 038499-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0277 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 28226707-28249405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28235225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 70 (M70L)
Ref Sequence ENSEMBL: ENSMUSP00000107891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063465] [ENSMUST00000112272]
AlphaFold P22725
Predicted Effect possibly damaging
Transcript: ENSMUST00000063465
AA Change: M90L

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: M90L

DomainStartEndE-ValueType
Blast:WNT1 1 46 7e-6 BLAST
WNT1 71 380 6.71e-222 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112272
AA Change: M70L

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994
AA Change: M70L

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1304 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.0%
  • 20x: 89.3%
Validation Efficiency 99% (111/112)
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik A G 7: 124,917,815 (GRCm39) K69R unknown Het
Abca13 A C 11: 9,244,701 (GRCm39) D2188A probably benign Het
Acad11 T C 9: 104,001,224 (GRCm39) M708T probably damaging Het
Adam7 T C 14: 68,748,306 (GRCm39) probably null Het
Adgre1 T A 17: 57,751,060 (GRCm39) I578N probably benign Het
Agbl4 T C 4: 111,474,419 (GRCm39) S403P probably damaging Het
Ak3 A G 19: 29,025,192 (GRCm39) M13T possibly damaging Het
Ap2s1 T C 7: 16,481,305 (GRCm39) probably benign Het
Arhgef1 A T 7: 24,623,224 (GRCm39) probably benign Het
Arsk T C 13: 76,223,051 (GRCm39) N182S probably benign Het
Aspscr1 G A 11: 120,569,246 (GRCm39) V15I probably damaging Het
Asxl2 A G 12: 3,492,487 (GRCm39) Y24C probably damaging Het
Atp8b1 A G 18: 64,701,323 (GRCm39) F345S possibly damaging Het
Atp8b3 T C 10: 80,362,743 (GRCm39) K672E probably benign Het
Bltp1 T A 3: 36,997,331 (GRCm39) C1129* probably null Het
Bmp2k A G 5: 97,235,682 (GRCm39) probably benign Het
Casp6 T A 3: 129,704,172 (GRCm39) V86E probably benign Het
Cdca5 A G 19: 6,140,742 (GRCm39) E260G unknown Het
Cpb2 T A 14: 75,502,898 (GRCm39) V159D probably damaging Het
Cylc2 T A 4: 51,228,477 (GRCm39) S183T unknown Het
Dhtkd1 T A 2: 5,919,699 (GRCm39) M561L probably benign Het
Dync2h1 T C 9: 7,129,046 (GRCm39) D1823G probably benign Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Erc1 T C 6: 119,597,289 (GRCm39) K1003E probably damaging Het
Ezr G A 17: 7,022,164 (GRCm39) Q105* probably null Het
Fam83d T A 2: 158,627,467 (GRCm39) D385E probably benign Het
Fbn2 A G 18: 58,178,389 (GRCm39) C1950R probably damaging Het
Fbxo32 A T 15: 58,047,605 (GRCm39) I236N probably damaging Het
Fcgbp G T 7: 27,784,918 (GRCm39) probably null Het
Foxe3 T C 4: 114,782,805 (GRCm39) N136D probably damaging Het
Fscn2 A T 11: 120,258,837 (GRCm39) I461F probably damaging Het
Gldc A G 19: 30,093,851 (GRCm39) I722T possibly damaging Het
Gm10717 T G 9: 3,025,619 (GRCm39) V68G possibly damaging Het
Gm4841 A G 18: 60,403,718 (GRCm39) L125S possibly damaging Het
Gnl3 A C 14: 30,735,384 (GRCm39) probably null Het
Gsto1 A T 19: 47,846,416 (GRCm39) I88F probably damaging Het
Gucy1b1 T A 3: 81,945,463 (GRCm39) probably null Het
Hhla1 C A 15: 65,820,352 (GRCm39) V133F probably benign Het
Hipk3 T A 2: 104,271,593 (GRCm39) L446F probably damaging Het
Hscb T C 5: 110,982,556 (GRCm39) E177G possibly damaging Het
Hsd17b6 T C 10: 127,827,274 (GRCm39) D266G probably benign Het
Ipo4 T C 14: 55,869,572 (GRCm39) S363G probably benign Het
Kcnip3 A G 2: 127,301,899 (GRCm39) probably benign Het
Klhl41 A G 2: 69,501,640 (GRCm39) Y367C probably damaging Het
Klk1b4 C G 7: 43,861,053 (GRCm39) P232R possibly damaging Het
Lcp2 A G 11: 34,004,322 (GRCm39) D53G probably damaging Het
Llgl2 A G 11: 115,741,546 (GRCm39) K559E probably damaging Het
Lrrc59 A C 11: 94,534,248 (GRCm39) T269P probably damaging Het
Mark1 A G 1: 184,677,149 (GRCm39) S34P possibly damaging Het
Megf11 G A 9: 64,598,632 (GRCm39) probably null Het
Mplkip A G 13: 17,871,565 (GRCm39) I159V possibly damaging Het
Muc4 C A 16: 32,755,690 (GRCm38) probably benign Het
Myo18b A G 5: 112,841,213 (GRCm39) probably benign Het
Myo9b T C 8: 71,808,596 (GRCm39) probably benign Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ndrg3 A G 2: 156,776,855 (GRCm39) probably benign Het
Nfe2l3 T A 6: 51,434,448 (GRCm39) M336K probably benign Het
Nrxn1 A C 17: 91,008,170 (GRCm39) probably null Het
Nsun3 A T 16: 62,597,007 (GRCm39) probably benign Het
Nuak1 T C 10: 84,210,315 (GRCm39) E591G probably benign Het
Or10g1b T C 14: 52,627,846 (GRCm39) Y128C probably damaging Het
Or10s1 G A 9: 39,986,010 (GRCm39) V140I probably benign Het
Or1e17 A T 11: 73,831,773 (GRCm39) I234F probably benign Het
Or4k2 T C 14: 50,423,789 (GRCm39) N296S probably null Het
Or6c70 T A 10: 129,709,936 (GRCm39) Q230L probably damaging Het
Or6d15 A T 6: 116,559,562 (GRCm39) V115E probably damaging Het
Or6z6 T A 7: 6,491,433 (GRCm39) M147L probably benign Het
Orc4 A T 2: 48,827,479 (GRCm39) V38E possibly damaging Het
Ovgp1 T C 3: 105,887,208 (GRCm39) probably benign Het
Palm3 T A 8: 84,755,349 (GRCm39) V287D probably damaging Het
Pde4dip T A 3: 97,751,028 (GRCm39) H62L probably benign Het
Pdk4 G T 6: 5,491,620 (GRCm39) P100Q probably damaging Het
Pdss2 T A 10: 43,248,172 (GRCm39) H225Q probably benign Het
Pkhd1 A T 1: 20,345,762 (GRCm39) D2755E probably benign Het
Prune2 A T 19: 17,098,753 (GRCm39) D1419V probably damaging Het
Pth2r A C 1: 65,427,775 (GRCm39) I483L probably benign Het
Qrsl1 A G 10: 43,772,003 (GRCm39) probably null Het
Rab11fip4 A G 11: 79,577,455 (GRCm39) H403R possibly damaging Het
Ralgapa1 A T 12: 55,724,023 (GRCm39) I1548N probably damaging Het
Ric8a T G 7: 140,437,813 (GRCm39) probably benign Het
Rsbn1 T C 3: 103,821,897 (GRCm39) F44S possibly damaging Het
Serpinc1 T A 1: 160,817,272 (GRCm39) M1K probably null Het
Sf3b1 T C 1: 55,058,416 (GRCm39) I58V probably damaging Het
Sh3d19 T A 3: 86,033,978 (GRCm39) M777K probably benign Het
Sipa1 A T 19: 5,704,093 (GRCm39) M743K probably benign Het
Skint5 T C 4: 113,794,818 (GRCm39) H255R probably benign Het
Slco6b1 A T 1: 96,916,398 (GRCm39) noncoding transcript Het
Slfn4 A T 11: 83,077,777 (GRCm39) R188S probably damaging Het
Sort1 T C 3: 108,231,908 (GRCm39) probably benign Het
Spg21 A T 9: 65,372,629 (GRCm39) K20N possibly damaging Het
Sptbn2 A T 19: 4,795,173 (GRCm39) I1544F probably benign Het
Srf T C 17: 46,860,415 (GRCm39) T456A possibly damaging Het
Ssbp2 T A 13: 91,712,715 (GRCm39) probably benign Het
Stx2 C T 5: 129,065,967 (GRCm39) V230I probably benign Het
Sv2b A T 7: 74,856,187 (GRCm39) D34E possibly damaging Het
Synpo2l A G 14: 20,711,856 (GRCm39) S255P probably damaging Het
Tbx15 C T 3: 99,259,707 (GRCm39) P526L probably damaging Het
Tenm4 C A 7: 96,344,157 (GRCm39) P250Q possibly damaging Het
Tgm1 C A 14: 55,948,384 (GRCm39) probably benign Het
Tgm1 T C 14: 55,950,109 (GRCm39) probably benign Het
Thsd7b A G 1: 130,123,000 (GRCm39) I1540V probably benign Het
Tnrc6c A G 11: 117,630,707 (GRCm39) K1023E probably damaging Het
Ube2l6 A T 2: 84,636,771 (GRCm39) probably null Het
Uty T A Y: 1,169,979 (GRCm39) I326F probably damaging Het
Wdfy4 T C 14: 32,805,742 (GRCm39) D1735G possibly damaging Het
Wnt11 A G 7: 98,496,590 (GRCm39) K177E probably damaging Het
Wwc1 T A 11: 35,743,175 (GRCm39) E882V probably damaging Het
Zfp455 G T 13: 67,346,728 (GRCm39) probably null Het
Zmpste24 A G 4: 120,940,050 (GRCm39) Y199H 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
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
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'- TTCAAGCCCCTGAATGGCTGAC -3'
(R):5'- GCTTAAATGGCTCTGCTTTGCCAC -3'

Sequencing Primer
(F):5'- CCTGAATGGCTGACAGGTTTTTG -3'
(R):5'- ACTCTACTGATCTGGTTCAAGG -3'
Posted On 2013-04-16