Incidental Mutation 'R1933:Wnt5a'
ID 215611
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 039951-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1933 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 28226707-28249405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28233802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 10 (P10L)
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: P10L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: P10L

DomainStartEndE-ValueType
Blast:WNT1 1 46 7e-6 BLAST
WNT1 71 380 6.71e-222 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112272
SMART Domains Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adra2a T A 19: 54,034,837 (GRCm39) F64L probably damaging Het
Ankrd45 A T 1: 160,978,870 (GRCm39) N103I probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Bsn A G 9: 107,993,643 (GRCm39) V703A possibly damaging Het
Btaf1 T A 19: 36,950,357 (GRCm39) I529K probably damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Ccdc78 T A 17: 26,006,044 (GRCm39) S71T probably damaging Het
Cct5 G T 15: 31,591,154 (GRCm39) Q516K probably benign Het
Cd300c2 A T 11: 114,891,685 (GRCm39) V63E probably benign Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Clec16a T C 16: 10,506,403 (GRCm39) F710L probably damaging Het
Clpb T G 7: 101,428,418 (GRCm39) F393V probably damaging Het
Commd9 G A 2: 101,731,376 (GRCm39) R187H probably damaging Het
Crx T A 7: 15,602,301 (GRCm39) K126* probably null Het
Dcaf13 T A 15: 39,001,483 (GRCm39) Y264N probably damaging Het
Dnah12 T A 14: 26,455,650 (GRCm39) I791N probably damaging Het
Dpy19l1 A T 9: 24,345,683 (GRCm39) D456E probably damaging Het
Dscam A G 16: 96,394,414 (GRCm39) S1963P probably benign Het
Efl1 C T 7: 82,412,325 (GRCm39) Q905* probably null Het
Farsa T C 8: 85,587,780 (GRCm39) F104L probably benign Het
Fbxl19 C A 7: 127,350,101 (GRCm39) A231E probably benign Het
Fbxw19 A T 9: 109,310,718 (GRCm39) N401K probably benign Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Frem3 A G 8: 81,339,519 (GRCm39) N604S probably benign Het
Gad1 T G 2: 70,417,736 (GRCm39) C312G possibly damaging Het
Garem2 G T 5: 30,319,860 (GRCm39) E441* probably null Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm8206 A T 14: 6,022,475 (GRCm38) M8K probably benign Het
Gpr162 G A 6: 124,838,410 (GRCm39) S80F probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Il21 C T 3: 37,286,635 (GRCm39) R27H probably benign Het
Il21r C T 7: 125,228,153 (GRCm39) T208I possibly damaging Het
Kcnab2 T C 4: 152,520,323 (GRCm39) T6A possibly damaging Het
Klra4 T A 6: 130,042,207 (GRCm39) Q20L possibly damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Lrrtm3 A G 10: 63,924,292 (GRCm39) F292L possibly damaging Het
Mpeg1 A T 19: 12,440,011 (GRCm39) K490* probably null Het
Myh14 C T 7: 44,264,772 (GRCm39) M1671I probably benign Het
Nebl A T 2: 17,380,103 (GRCm39) M757K probably damaging Het
Or51m1 G T 7: 103,578,337 (GRCm39) M102I probably damaging Het
Or56b1b A C 7: 108,164,730 (GRCm39) F91V possibly damaging Het
Or5aq1 T A 2: 86,966,188 (GRCm39) H159L probably damaging Het
Pkhd1l1 A T 15: 44,404,280 (GRCm39) H2303L possibly damaging Het
Podxl2 C T 6: 88,826,587 (GRCm39) V240M probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prss53 T C 7: 127,485,434 (GRCm39) *553W probably null Het
Psma3 T A 12: 71,031,468 (GRCm39) M43K probably benign Het
Rad50 G T 11: 53,570,888 (GRCm39) T790K probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Scn10a T A 9: 119,439,064 (GRCm39) M1601L probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Serpinb5 A G 1: 106,803,851 (GRCm39) E8G probably damaging Het
Sgcg C T 14: 61,469,861 (GRCm39) V167I possibly damaging Het
Slc25a13 C T 6: 6,109,262 (GRCm39) V367M probably damaging Het
Spata31 T C 13: 65,068,424 (GRCm39) S191P probably benign Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Srgap1 G T 10: 121,761,808 (GRCm39) D113E possibly damaging Het
Srl A G 16: 4,310,214 (GRCm39) I505T probably damaging Het
St14 G A 9: 31,017,508 (GRCm39) T226I probably benign Het
Stard9 T A 2: 120,529,137 (GRCm39) I1798N possibly damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Susd1 A T 4: 59,351,695 (GRCm39) N455K possibly damaging Het
Sytl3 T A 17: 7,000,445 (GRCm39) V205E probably damaging Het
Tenm4 A G 7: 96,544,533 (GRCm39) Y2183C probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tlcd3b T A 7: 126,426,844 (GRCm39) probably null Het
Tlr1 T G 5: 65,082,781 (GRCm39) T599P possibly damaging Het
Trpc6 G A 9: 8,656,546 (GRCm39) D658N probably damaging Het
Ttc39b A G 4: 83,150,957 (GRCm39) V546A possibly damaging Het
Ube3c T C 5: 29,824,657 (GRCm39) Y561H probably damaging Het
Vmn1r29 T A 6: 58,284,405 (GRCm39) S42T probably benign Het
Vps4a T C 8: 107,771,190 (GRCm39) V392A probably benign Het
Wdfy4 T C 14: 32,855,301 (GRCm39) E771G probably benign Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null Het
Zfhx2 T C 14: 55,312,695 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,903 (GRCm39) K132R 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
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'- TAAGACTTCCTGGTGAGGGTGC -3'
(R):5'- AGGCCATAACATAGTCCAAGTGTAAG -3'

Sequencing Primer
(F):5'- AAGAAACTGCCTATATCTTGCCATC -3'
(R):5'- CTATAACAACCTGGGCGAA -3'
Posted On 2014-07-14