Incidental Mutation 'R5216:Wnt2b'
ID 403465
Institutional Source Beutler Lab
Gene Symbol Wnt2b
Ensembl Gene ENSMUSG00000027840
Gene Name wingless-type MMTV integration site family, member 2B
Synonyms Wnt13
MMRRC Submission 042789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5216 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 104852588-104869237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104868661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 43 (L43P)
Ref Sequence ENSEMBL: ENSMUSP00000029429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029429]
AlphaFold O70283
Predicted Effect possibly damaging
Transcript: ENSMUST00000029429
AA Change: L43P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029429
Gene: ENSMUSG00000027840
AA Change: L43P

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
low complexity region 37 50 N/A INTRINSIC
WNT1 72 378 2.03e-189 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200502
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no discernable phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,107,947 (GRCm39) V84D probably damaging Het
Abcb1b T C 5: 8,863,705 (GRCm39) V220A probably benign Het
Actg1 A T 11: 120,238,580 (GRCm39) M82K probably damaging Het
Ahi1 T C 10: 20,835,975 (GRCm39) S103P probably benign Het
Aldh1b1 G T 4: 45,803,652 (GRCm39) G397C probably damaging Het
Arhgef3 A G 14: 27,123,799 (GRCm39) T507A probably benign Het
Atg7 A G 6: 114,701,910 (GRCm39) D682G probably damaging Het
Atp13a3 A G 16: 30,159,102 (GRCm39) I783T probably damaging Het
Atp9a T C 2: 168,516,808 (GRCm39) I362V probably benign Het
Birc6 T A 17: 74,920,465 (GRCm39) I168K probably damaging Het
Brca2 T A 5: 150,466,445 (GRCm39) Y2070N probably damaging Het
Cabp7 A G 11: 4,688,873 (GRCm39) I199T probably damaging Het
Cacng5 A G 11: 107,768,315 (GRCm39) F231L possibly damaging Het
Cngb3 T A 4: 19,415,729 (GRCm39) V413D possibly damaging Het
Col24a1 G A 3: 145,021,071 (GRCm39) E481K possibly damaging Het
Cspg4b G A 13: 113,478,947 (GRCm39) C1497Y probably benign Het
Ctr9 T A 7: 110,644,665 (GRCm39) I560N possibly damaging Het
Dip2b C T 15: 100,109,867 (GRCm39) R1451C probably damaging Het
Fat3 T C 9: 16,288,833 (GRCm39) D230G probably damaging Het
Gramd4 G A 15: 86,018,986 (GRCm39) probably null Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Hoxd1 A T 2: 74,594,695 (GRCm39) N317Y probably damaging Het
Kcnc4 A G 3: 107,346,757 (GRCm39) S623P probably benign Het
Klhl20 A G 1: 160,921,249 (GRCm39) probably null Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lpin2 C T 17: 71,549,755 (GRCm39) S640L probably damaging Het
Ltbp4 AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC AATTCAGGCCTAGGCTGGGATTCAGGC 7: 27,026,736 (GRCm39) probably benign Het
Mgll T A 6: 88,743,311 (GRCm39) C110* probably null Het
Mmp14 A G 14: 54,675,120 (GRCm39) N251D possibly damaging Het
Or1e33 A T 11: 73,738,262 (GRCm39) S230T probably damaging Het
Or52k2 A G 7: 102,254,028 (GRCm39) T156A probably benign Het
Or7e166 T A 9: 19,624,585 (GRCm39) V154E probably benign Het
Pfkl T G 10: 77,845,504 (GRCm39) D5A probably damaging Het
Pik3c3 A G 18: 30,406,029 (GRCm39) Y9C probably damaging Het
Pkhd1l1 T A 15: 44,359,043 (GRCm39) Y417* probably null Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Sulf1 T A 1: 12,867,098 (GRCm39) M94K probably benign Het
Synrg A G 11: 83,873,022 (GRCm39) T157A probably damaging Het
Syt1 T C 10: 108,478,118 (GRCm39) N102S probably benign Het
Tnip2 C T 5: 34,661,149 (GRCm39) R101H probably damaging Het
Trmt2a A G 16: 18,070,048 (GRCm39) D421G probably benign Het
Vmn1r67 A G 7: 10,181,090 (GRCm39) D57G probably benign Het
Zfp113 C T 5: 138,148,977 (GRCm39) D56N probably damaging Het
Zfp184 C T 13: 22,134,406 (GRCm39) L69F probably damaging Het
Zyx T C 6: 42,333,466 (GRCm39) V464A probably damaging Het
Other mutations in Wnt2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Wnt2b APN 3 104,860,449 (GRCm39) missense possibly damaging 0.87
IGL02058:Wnt2b APN 3 104,854,408 (GRCm39) missense probably benign 0.04
IGL02638:Wnt2b APN 3 104,862,032 (GRCm39) missense probably benign 0.25
R0881:Wnt2b UTSW 3 104,860,513 (GRCm39) splice site probably benign
R1971:Wnt2b UTSW 3 104,861,933 (GRCm39) splice site probably benign
R2004:Wnt2b UTSW 3 104,860,331 (GRCm39) missense probably damaging 1.00
R4431:Wnt2b UTSW 3 104,860,256 (GRCm39) missense probably damaging 1.00
R6046:Wnt2b UTSW 3 104,858,339 (GRCm39) missense probably damaging 1.00
R6633:Wnt2b UTSW 3 104,858,372 (GRCm39) missense probably damaging 1.00
R6653:Wnt2b UTSW 3 104,860,502 (GRCm39) missense probably damaging 1.00
R6827:Wnt2b UTSW 3 104,854,408 (GRCm39) missense probably benign 0.04
R7352:Wnt2b UTSW 3 104,854,493 (GRCm39) missense probably benign 0.05
R7634:Wnt2b UTSW 3 104,854,432 (GRCm39) missense probably damaging 1.00
R8099:Wnt2b UTSW 3 104,854,408 (GRCm39) missense possibly damaging 0.48
R8972:Wnt2b UTSW 3 104,858,475 (GRCm39) missense possibly damaging 0.79
X0061:Wnt2b UTSW 3 104,868,676 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGCCACTGGAAACTTCTGG -3'
(R):5'- ACTCTGTGGGGCGATCTAGG -3'

Sequencing Primer
(F):5'- CACTGGAAACTTCTGGGACTG -3'
(R):5'- CCTGAGGAAGCCCAGACAGTG -3'
Posted On 2016-07-22