Incidental Mutation 'IGL01920:Dvl2'
ID 180071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dvl2
Ensembl Gene ENSMUSG00000020888
Gene Name dishevelled segment polarity protein 2
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # IGL01920
Quality Score
Status
Chromosome 11
Chromosomal Location 69891418-69900935 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69898873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 420 (H420R)
Ref Sequence ENSEMBL: ENSMUSP00000140073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018718] [ENSMUST00000019362] [ENSMUST00000102574] [ENSMUST00000102575] [ENSMUST00000190940]
AlphaFold Q60838
Predicted Effect probably benign
Transcript: ENSMUST00000018718
SMART Domains Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 74 188 4.4e-22 PFAM
Pfam:Acyl-CoA_dh_M 192 245 5.1e-20 PFAM
Pfam:Acyl-CoA_dh_1 306 455 6.7e-41 PFAM
Pfam:Acyl-CoA_dh_2 321 445 2.8e-12 PFAM
Blast:HisKA 460 557 6e-10 BLAST
low complexity region 558 569 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019362
AA Change: H420R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
AA Change: H420R

DomainStartEndE-ValueType
DAX 11 93 2.31e-56 SMART
Pfam:Dishevelled 103 263 1.5e-60 PFAM
PDZ 276 355 1.65e-15 SMART
low complexity region 395 407 N/A INTRINSIC
DEP 433 507 6.6e-29 SMART
Pfam:Dsh_C 515 726 1.1e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083600
Predicted Effect probably benign
Transcript: ENSMUST00000102574
SMART Domains Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 96 210 2.5e-25 PFAM
Pfam:Acyl-CoA_dh_M 214 316 5.5e-25 PFAM
Pfam:Acyl-CoA_dh_1 328 477 2.5e-41 PFAM
Pfam:Acyl-CoA_dh_2 343 467 8.7e-14 PFAM
Blast:HisKA 482 579 7e-10 BLAST
low complexity region 580 591 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102575
AA Change: H420R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
AA Change: H420R

DomainStartEndE-ValueType
DAX 11 93 2.31e-56 SMART
low complexity region 112 122 N/A INTRINSIC
Pfam:Dishevelled 160 232 8.1e-27 PFAM
low complexity region 250 262 N/A INTRINSIC
PDZ 276 355 1.65e-15 SMART
low complexity region 395 407 N/A INTRINSIC
DEP 433 507 6.6e-29 SMART
Pfam:Dsh_C 515 726 1.3e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130820
Predicted Effect probably benign
Transcript: ENSMUST00000190940
AA Change: H420R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
AA Change: H420R

DomainStartEndE-ValueType
DAX 11 93 2.31e-56 SMART
low complexity region 112 122 N/A INTRINSIC
Pfam:Dishevelled 160 232 8.1e-27 PFAM
low complexity region 250 262 N/A INTRINSIC
PDZ 276 355 1.65e-15 SMART
low complexity region 395 407 N/A INTRINSIC
DEP 433 507 6.6e-29 SMART
Pfam:Dsh_C 515 726 1.3e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152732
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134516
Coding Region Coverage
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 dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice show incomplete penetrance of perinatal lethality with surviving mice being predominantly female. Defects include cardiovascular outflow and neural tube abnormalities, malformations of vertebrae and ribs, and irregular somite segmentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 C T 8: 111,769,878 (GRCm39) R326W probably damaging Het
Acad11 T C 9: 103,941,104 (GRCm39) probably null Het
Acat2 A G 17: 13,162,912 (GRCm39) I312T probably benign Het
Adgrl3 T C 5: 81,613,143 (GRCm39) V192A probably damaging Het
Akap1 T C 11: 88,730,459 (GRCm39) H643R probably damaging Het
Akap7 A T 10: 25,165,501 (GRCm39) C85* probably null Het
Ankrd11 T C 8: 123,642,636 (GRCm39) probably benign Het
Ano1 G A 7: 144,165,191 (GRCm39) probably benign Het
Csnk1g2 T C 10: 80,474,262 (GRCm39) L161P probably damaging Het
Fam135b G T 15: 71,493,885 (GRCm39) H15N possibly damaging Het
Foxj1 G T 11: 116,222,746 (GRCm39) H352Q possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Hectd1 T C 12: 51,829,337 (GRCm39) I969M probably damaging Het
Kcnh3 C A 15: 99,131,258 (GRCm39) P544T probably benign Het
Or7g35 A C 9: 19,496,318 (GRCm39) M162L probably benign Het
Pcnt A G 10: 76,240,362 (GRCm39) L1224P probably damaging Het
Prss2 A G 6: 41,501,477 (GRCm39) N182S possibly damaging Het
Sgsm1 A T 5: 113,421,471 (GRCm39) W594R probably damaging Het
Slc38a1 C T 15: 96,484,778 (GRCm39) A261T probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Vcan C T 13: 89,837,324 (GRCm39) G2740E probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vwa7 G A 17: 35,243,579 (GRCm39) V729I probably benign Het
Other mutations in Dvl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Dvl2 APN 11 69,900,410 (GRCm39) missense possibly damaging 0.86
IGL01465:Dvl2 APN 11 69,897,180 (GRCm39) missense probably damaging 1.00
IGL01985:Dvl2 APN 11 69,899,119 (GRCm39) missense probably damaging 1.00
IGL02071:Dvl2 APN 11 69,895,626 (GRCm39) splice site probably null
IGL02110:Dvl2 APN 11 69,898,842 (GRCm39) splice site probably benign
IGL03132:Dvl2 APN 11 69,896,514 (GRCm39) missense probably benign 0.01
R0076:Dvl2 UTSW 11 69,898,926 (GRCm39) missense probably damaging 0.99
R0076:Dvl2 UTSW 11 69,898,926 (GRCm39) missense probably damaging 0.99
R0331:Dvl2 UTSW 11 69,897,043 (GRCm39) splice site probably benign
R0335:Dvl2 UTSW 11 69,891,861 (GRCm39) splice site probably benign
R1187:Dvl2 UTSW 11 69,896,962 (GRCm39) missense probably benign 0.05
R1552:Dvl2 UTSW 11 69,897,198 (GRCm39) missense possibly damaging 0.92
R1726:Dvl2 UTSW 11 69,900,287 (GRCm39) missense probably benign
R3103:Dvl2 UTSW 11 69,899,695 (GRCm39) missense possibly damaging 0.82
R4688:Dvl2 UTSW 11 69,898,344 (GRCm39) missense possibly damaging 0.82
R4812:Dvl2 UTSW 11 69,902,119 (GRCm39) utr 3 prime probably benign
R5319:Dvl2 UTSW 11 69,898,957 (GRCm39) missense possibly damaging 0.91
R5521:Dvl2 UTSW 11 69,897,233 (GRCm39) missense probably damaging 0.98
R5647:Dvl2 UTSW 11 69,900,275 (GRCm39) missense possibly damaging 0.91
R5721:Dvl2 UTSW 11 69,896,819 (GRCm39) missense possibly damaging 0.95
R6053:Dvl2 UTSW 11 69,896,819 (GRCm39) missense possibly damaging 0.95
R6812:Dvl2 UTSW 11 69,891,821 (GRCm39) missense probably damaging 1.00
R6818:Dvl2 UTSW 11 69,900,099 (GRCm39) missense probably damaging 0.98
R7843:Dvl2 UTSW 11 69,899,612 (GRCm39) missense probably benign 0.04
R8079:Dvl2 UTSW 11 69,898,344 (GRCm39) missense possibly damaging 0.95
R8398:Dvl2 UTSW 11 69,899,128 (GRCm39) missense probably damaging 1.00
R8425:Dvl2 UTSW 11 69,898,673 (GRCm39) missense probably damaging 1.00
R8880:Dvl2 UTSW 11 69,898,761 (GRCm39) missense possibly damaging 0.89
R9336:Dvl2 UTSW 11 69,897,180 (GRCm39) missense probably damaging 1.00
R9695:Dvl2 UTSW 11 69,899,976 (GRCm39) missense possibly damaging 0.71
Posted On 2014-05-07