Incidental Mutation 'R1502:Dvl3'
ID169401
Institutional Source Beutler Lab
Gene Symbol Dvl3
Ensembl Gene ENSMUSG00000003233
Gene Namedishevelled segment polarity protein 3
Synonyms
MMRRC Submission 039552-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1502 (G1)
Quality Score225
Status Not validated
Chromosome16
Chromosomal Location20516982-20534010 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20523459 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 94 (D94G)
Ref Sequence ENSEMBL: ENSMUSP00000003318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003318] [ENSMUST00000171572] [ENSMUST00000171774]
Predicted Effect probably damaging
Transcript: ENSMUST00000003318
AA Change: D94G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003318
Gene: ENSMUSG00000003233
AA Change: D94G

DomainStartEndE-ValueType
DAX 1 82 3.17e-54 SMART
Pfam:Dishevelled 142 213 1.6e-36 PFAM
PDZ 258 337 2.92e-16 SMART
low complexity region 378 396 N/A INTRINSIC
DEP 422 496 3.43e-27 SMART
Pfam:Dsh_C 500 706 5.8e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169552
Predicted Effect possibly damaging
Transcript: ENSMUST00000171572
AA Change: D94G

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130925
Gene: ENSMUSG00000003233
AA Change: D94G

DomainStartEndE-ValueType
DAX 1 82 3.17e-54 SMART
Pfam:Dishevelled 89 245 1.3e-63 PFAM
PDZ 258 337 2.92e-16 SMART
low complexity region 378 396 N/A INTRINSIC
DEP 422 496 3.43e-27 SMART
Pfam:Dsh_C 500 706 1.2e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171774
AA Change: D94G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126082
Gene: ENSMUSG00000003233
AA Change: D94G

DomainStartEndE-ValueType
DAX 1 82 3.17e-54 SMART
Pfam:Dishevelled 142 213 3.9e-37 PFAM
PDZ 258 337 2.92e-16 SMART
low complexity region 361 379 N/A INTRINSIC
DEP 405 479 3.43e-27 SMART
Pfam:Dsh_C 483 689 1.8e-88 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality associated with respiratory distress, persistent truncus arteriosis, and double outlet right ventricle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T G 11: 109,974,645 T329P probably damaging Het
Adamts4 C A 1: 171,258,990 P784T probably damaging Het
Adamts6 T C 13: 104,493,637 L1096P probably damaging Het
Ap1b1 A G 11: 5,040,290 S849G probably benign Het
Arap2 T C 5: 62,604,404 S1660G probably benign Het
Atp10b A C 11: 43,230,347 T946P probably damaging Het
Brpf1 A G 6: 113,322,420 D1103G probably damaging Het
Bub1 A G 2: 127,827,419 Y102H probably damaging Het
C87499 T A 4: 88,628,032 I358F probably benign Het
Ccdc182 A G 11: 88,294,367 E91G probably benign Het
Cd200r4 C T 16: 44,833,440 T154M probably damaging Het
Cdh20 A G 1: 104,954,030 T407A probably benign Het
Col6a2 T C 10: 76,614,678 I140V probably benign Het
Csn3 C A 5: 87,930,124 T163K probably damaging Het
Dars2 A T 1: 161,046,805 L438* probably null Het
Dbr1 T C 9: 99,582,387 L289P probably damaging Het
Ddx46 A G 13: 55,663,309 R573G possibly damaging Het
Defb10 T C 8: 21,858,956 I10T possibly damaging Het
Dis3l T C 9: 64,325,787 E136G possibly damaging Het
Dnajb13 T C 7: 100,507,461 Q136R probably benign Het
Dse A T 10: 34,153,218 S625R probably damaging Het
E130311K13Rik A C 3: 63,915,547 Y225* probably null Het
Etnppl A G 3: 130,628,789 I222V probably benign Het
Evc2 T C 5: 37,393,096 L818P probably benign Het
Fbn1 A T 2: 125,363,706 C1083* probably null Het
Flnc G A 6: 29,438,694 V196I probably benign Het
Fscn3 A G 6: 28,435,623 D415G probably benign Het
Gm3448 A G 17: 14,967,614 F133L probably benign Het
Gm4861 A C 3: 137,550,620 V75G probably damaging Het
Gpld1 A T 13: 24,971,416 T345S probably benign Het
Grik4 T C 9: 42,520,873 S943G probably damaging Het
Grik4 C T 9: 42,591,447 R460Q probably benign Het
Ifi207 A C 1: 173,729,306 L629R possibly damaging Het
Ift52 G A 2: 163,029,862 probably null Het
Insl3 A G 8: 71,690,232 D79G probably damaging Het
Kif5a A T 10: 127,245,441 I208N probably damaging Het
Lag3 T C 6: 124,909,243 Y249C probably damaging Het
Lipe T C 7: 25,398,147 N124D possibly damaging Het
Lnpep A G 17: 17,571,644 Y412H probably damaging Het
Lrtm2 A G 6: 119,317,274 Y299H probably benign Het
Lypd4 T C 7: 24,866,828 T24A probably benign Het
Magi1 T A 6: 93,694,170 I805F probably damaging Het
Mfap3 T C 11: 57,528,149 L45P probably benign Het
Nbea G A 3: 56,004,889 P1159L probably benign Het
Ndst4 A T 3: 125,437,758 probably benign Het
Notch1 A T 2: 26,484,323 N229K possibly damaging Het
Nova1 A G 12: 46,720,832 I102T unknown Het
Npepps T C 11: 97,218,575 E725G possibly damaging Het
Olfr1157 T C 2: 87,962,035 N286D probably damaging Het
Olfr211 T C 6: 116,494,281 I224T probably damaging Het
Olfr743 A T 14: 50,533,777 M122L possibly damaging Het
Olfr822 T C 10: 130,074,872 I154T probably damaging Het
Pappa2 A T 1: 158,957,288 W51R probably damaging Het
Pde8a T C 7: 81,292,259 S149P probably damaging Het
Phkb T A 8: 86,059,339 L1052Q possibly damaging Het
Pou5f2 T A 13: 78,025,251 L104Q probably benign Het
Psme2b A T 11: 48,945,749 W124R probably damaging Het
Ptk2b G A 14: 66,163,080 S762L possibly damaging Het
Ptprs T C 17: 56,437,992 N248S probably benign Het
Rgs22 G A 15: 36,080,851 T705I probably damaging Het
Rnf123 T C 9: 108,068,510 probably null Het
Sel1l2 A T 2: 140,389,595 I13N probably damaging Het
Slc39a4 T C 15: 76,616,593 T57A probably benign Het
Smpdl3a T G 10: 57,809,091 V319G probably damaging Het
Syt9 T C 7: 107,436,487 L237P probably damaging Het
Tbc1d16 G T 11: 119,154,004 A536E probably damaging Het
Tcf20 T C 15: 82,855,576 D558G probably damaging Het
Tdpoz2 A T 3: 93,652,146 M173K probably benign Het
Tek A G 4: 94,781,102 I113M probably damaging Het
Tmem50a A T 4: 134,909,669 D50E probably benign Het
Tmem8 A G 17: 26,120,316 T535A possibly damaging Het
Trappc11 A T 8: 47,530,827 V10E possibly damaging Het
Vmn1r172 C T 7: 23,660,256 R189* probably null Het
Vmn2r63 A T 7: 42,928,591 D174E possibly damaging Het
Zc3h10 A T 10: 128,544,282 M402K probably damaging Het
Zfp109 T C 7: 24,228,163 H615R probably damaging Het
Zfp982 A C 4: 147,512,669 H161P probably benign Het
Zhx1 A G 15: 58,054,596 F85L probably damaging Het
Other mutations in Dvl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Dvl3 APN 16 20530939 missense probably damaging 0.97
IGL02318:Dvl3 APN 16 20523743 missense possibly damaging 0.52
R0490:Dvl3 UTSW 16 20527423 splice site probably benign
R0491:Dvl3 UTSW 16 20527423 splice site probably benign
R1356:Dvl3 UTSW 16 20524305 small deletion probably benign
R2062:Dvl3 UTSW 16 20526351 missense probably benign 0.33
R2197:Dvl3 UTSW 16 20523756 missense probably damaging 0.99
R4232:Dvl3 UTSW 16 20524233 intron probably benign
R4346:Dvl3 UTSW 16 20531299 missense possibly damaging 0.95
R4347:Dvl3 UTSW 16 20531299 missense possibly damaging 0.95
R4350:Dvl3 UTSW 16 20525644 missense possibly damaging 0.93
R4351:Dvl3 UTSW 16 20525644 missense possibly damaging 0.93
R4352:Dvl3 UTSW 16 20525644 missense possibly damaging 0.93
R5129:Dvl3 UTSW 16 20517340 missense possibly damaging 0.95
R5134:Dvl3 UTSW 16 20524607 intron probably benign
R5430:Dvl3 UTSW 16 20523731 missense probably damaging 1.00
R5586:Dvl3 UTSW 16 20517289 missense probably damaging 0.98
R5643:Dvl3 UTSW 16 20526276 missense probably damaging 0.99
R5644:Dvl3 UTSW 16 20526276 missense probably damaging 0.99
R5961:Dvl3 UTSW 16 20530979 missense possibly damaging 0.86
R6143:Dvl3 UTSW 16 20527039 missense possibly damaging 0.92
R6502:Dvl3 UTSW 16 20527383 missense probably damaging 1.00
R7117:Dvl3 UTSW 16 20527322 nonsense probably null
R7740:Dvl3 UTSW 16 20527250 critical splice acceptor site probably null
X0062:Dvl3 UTSW 16 20523495 missense probably damaging 1.00
Z1176:Dvl3 UTSW 16 20530881 missense probably damaging 0.97
Z1177:Dvl3 UTSW 16 20517088 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACTTGGCATCCCATGACCTCTGTG -3'
(R):5'- GGTCTCCGTGTCATTGTCCAGATTC -3'

Sequencing Primer
(F):5'- TCTGCCTCAGAAACCCATGC -3'
(R):5'- CCCACTAGCATGAGGGCTAAAG -3'
Posted On2014-04-13