Incidental Mutation 'IGL01465:Dvl2'
ID 88084
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 # IGL01465
Quality Score
Status
Chromosome 11
Chromosomal Location 69891418-69900935 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69897180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 294 (I294N)
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 damaging
Transcript: ENSMUST00000019362
AA Change: I294N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
AA Change: I294N

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 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 damaging
Transcript: ENSMUST00000102575
AA Change: I294N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
AA Change: I294N

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 noncoding transcript
Transcript: ENSMUST00000134516
Predicted Effect probably damaging
Transcript: ENSMUST00000190940
AA Change: I294N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
AA Change: I294N

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: ENSMUST00000146129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152732
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135422
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Dvl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Dvl2 APN 11 69,900,410 (GRCm39) missense possibly damaging 0.86
IGL01920:Dvl2 APN 11 69,898,873 (GRCm39) missense probably benign 0.02
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 2013-11-18