Incidental Mutation 'R2191:Dvl1'
ID 238089
Institutional Source Beutler Lab
Gene Symbol Dvl1
Ensembl Gene ENSMUSG00000029071
Gene Name dishevelled segment polarity protein 1
Synonyms
MMRRC Submission 040193-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2191 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155931859-155943760 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 155932273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 28 (V28I)
Ref Sequence ENSEMBL: ENSMUSP00000133137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030947] [ENSMUST00000030948] [ENSMUST00000168552]
AlphaFold P51141
Predicted Effect probably benign
Transcript: ENSMUST00000030947
SMART Domains Protein: ENSMUSP00000030947
Gene: ENSMUSG00000029070

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 38 156 6.16e-4 SMART
IG 170 291 9.71e-2 SMART
transmembrane domain 340 362 N/A INTRINSIC
low complexity region 371 384 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000030948
AA Change: V28I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071
AA Change: V28I

DomainStartEndE-ValueType
DAX 1 85 2.17e-52 SMART
Pfam:Dishevelled 144 215 1.1e-31 PFAM
low complexity region 217 233 N/A INTRINSIC
low complexity region 235 246 N/A INTRINSIC
PDZ 260 339 3.13e-16 SMART
low complexity region 380 397 N/A INTRINSIC
DEP 425 499 1.47e-26 SMART
Pfam:Dsh_C 503 685 4.2e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141539
Predicted Effect possibly damaging
Transcript: ENSMUST00000168552
AA Change: V28I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071
AA Change: V28I

DomainStartEndE-ValueType
DAX 1 85 2.17e-52 SMART
Pfam:Dishevelled 90 247 1.7e-60 PFAM
PDZ 260 339 3.13e-16 SMART
low complexity region 380 397 N/A INTRINSIC
DEP 425 499 1.47e-26 SMART
Pfam:Dsh_C 503 685 7.6e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141766
Meta Mutation Damage Score 0.0748 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the Dishevelled family of proteins. These proteins have an N-terminal Dishevelled/Axin domain, a Dishevelled, EGL-10, Plextrin domain, a central PDZ domain, and a C-terminal domain of approximately 200 amino acids. They regulate both canonical and non-canonical Wnt signaling as well as planar cell polarity pathways. Mice deficient for this gene are viable and fertile but display reduced social interaction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous targeted mutants are viable and fertile, but show a number of behavioral changes including deficient nest-building, less huddling contact during sleep, reduced subordinate responses, and other social interaction deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,078,865 (GRCm39) S716P possibly damaging Het
Abcb5 A C 12: 118,831,691 (GRCm39) N1220K probably damaging Het
Acsl3 A T 1: 78,676,857 (GRCm39) E479D probably damaging Het
Actn1 A T 12: 80,218,576 (GRCm39) L736* probably null Het
Adcyap1 A G 17: 93,507,454 (GRCm39) S5G possibly damaging Het
Adgrv1 T C 13: 81,714,409 (GRCm39) N958S possibly damaging Het
Armc1 T A 3: 19,188,225 (GRCm39) N274Y probably damaging Het
Atp9b G A 18: 80,796,266 (GRCm39) R926W probably damaging Het
Cacna1e G T 1: 154,319,591 (GRCm39) Q1370K probably damaging Het
Cdip1 C T 16: 4,587,927 (GRCm39) S12N probably benign Het
Chrna3 T A 9: 54,923,329 (GRCm39) I160F probably damaging Het
Cnot1 A G 8: 96,488,054 (GRCm39) I534T probably damaging Het
Cr2 T A 1: 194,845,689 (GRCm39) I465F possibly damaging Het
Daw1 A G 1: 83,170,384 (GRCm39) D232G probably benign Het
Dcaf6 T C 1: 165,250,433 (GRCm39) T144A probably benign Het
Dhx30 A T 9: 109,915,186 (GRCm39) probably null Het
Dnah7a A G 1: 53,645,034 (GRCm39) S1001P possibly damaging Het
Dnajb9 T C 12: 44,253,856 (GRCm39) T184A probably benign Het
Dsg1b T C 18: 20,542,675 (GRCm39) *1061Q probably null Het
Edem3 T A 1: 151,672,634 (GRCm39) V450D probably damaging Het
Ephb6 G T 6: 41,593,019 (GRCm39) R419L possibly damaging Het
Fbxo10 G C 4: 45,044,811 (GRCm39) P608R probably damaging Het
Flrt1 A G 19: 7,073,194 (GRCm39) I451T probably damaging Het
Gm6309 A T 5: 146,105,681 (GRCm39) V161E possibly damaging Het
Heatr5b A G 17: 79,081,106 (GRCm39) L1382P probably damaging Het
Igsf1 C A X: 48,872,027 (GRCm39) L714F probably damaging Het
Inpp4b C T 8: 82,723,931 (GRCm39) P488S probably damaging Het
Ints6l T A X: 55,550,110 (GRCm39) H678Q probably benign Het
Itprid1 A T 6: 55,944,704 (GRCm39) Q475L probably benign Het
Kdm2a A T 19: 4,406,959 (GRCm39) probably null Het
Khdrbs3 G T 15: 68,964,809 (GRCm39) V249F probably damaging Het
Kmt2d A T 15: 98,758,930 (GRCm39) probably null Het
Laptm4a T C 12: 8,972,296 (GRCm39) probably null Het
Lrp2bp C T 8: 46,466,206 (GRCm39) T105I probably benign Het
Lrrc37 A C 11: 103,509,793 (GRCm39) probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mtmr3 A T 11: 4,449,032 (GRCm39) W244R probably damaging Het
Myo18a A G 11: 77,709,441 (GRCm39) D138G probably damaging Het
Nlrp9b A T 7: 19,757,587 (GRCm39) I275L probably benign Het
Nol6 C T 4: 41,118,720 (GRCm39) R719H probably benign Het
Omt2b G A 9: 78,235,457 (GRCm39) probably benign Het
Or2a54 T C 6: 43,092,999 (GRCm39) S108P probably benign Het
Or5h23 A T 16: 58,906,038 (GRCm39) D269E probably benign Het
Or8g23 A T 9: 38,971,701 (GRCm39) I87K probably benign Het
Pclo C T 5: 14,763,862 (GRCm39) L4112F unknown Het
Pglyrp2 T C 17: 32,634,931 (GRCm39) N477S probably benign Het
Phf20 T C 2: 156,118,574 (GRCm39) V426A probably benign Het
Pla2g4e CTT CTTT 2: 120,021,680 (GRCm39) probably null Het
Plagl1 A C 10: 13,004,685 (GRCm39) probably benign Het
Ppip5k2 A G 1: 97,671,835 (GRCm39) V479A probably damaging Het
Prkdc A C 16: 15,516,688 (GRCm39) T1021P probably damaging Het
Rdh7 C T 10: 127,724,467 (GRCm39) V6I probably benign Het
Rictor A T 15: 6,789,095 (GRCm39) H237L probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rttn T C 18: 89,113,772 (GRCm39) probably null Het
Setd5 C T 6: 113,088,390 (GRCm39) Q173* probably null Het
Sipa1l1 T A 12: 82,443,465 (GRCm39) Y918* probably null Het
Slc13a1 T G 6: 24,134,396 (GRCm39) E162D possibly damaging Het
Slc39a9 G A 12: 80,709,301 (GRCm39) A52T probably damaging Het
Srebf1 T C 11: 60,111,365 (GRCm39) D2G probably damaging Het
Stab1 A T 14: 30,864,757 (GRCm39) M66K probably benign Het
Stab1 T C 14: 30,881,227 (GRCm39) N601S probably damaging Het
Sv2b C T 7: 74,773,836 (GRCm39) G545D probably damaging Het
Syt5 G A 7: 4,546,088 (GRCm39) Q101* probably null Het
Thada A G 17: 84,753,949 (GRCm39) F341L probably benign Het
Tln2 T G 9: 67,262,503 (GRCm39) I585L probably damaging Het
Tmem67 C G 4: 12,069,413 (GRCm39) probably null Het
Tonsl G T 15: 76,516,880 (GRCm39) L917M probably damaging Het
Ttk A G 9: 83,744,236 (GRCm39) K519E probably damaging Het
Ttn T C 2: 76,537,478 (GRCm39) T34817A probably benign Het
Ubr1 A T 2: 120,756,528 (GRCm39) S700T probably damaging Het
Unc13b C A 4: 43,245,566 (GRCm39) C1312* probably null Het
Usp36 A G 11: 118,175,849 (GRCm39) L104P possibly damaging Het
Vmn1r216 T C 13: 23,283,403 (GRCm39) F29L probably benign Het
Vmn1r225 T C 17: 20,723,147 (GRCm39) I196T probably damaging Het
Vmn1r50 T C 6: 90,085,121 (GRCm39) F289L probably benign Het
Ythdf3 T C 3: 16,257,375 (GRCm39) probably benign Het
Zfp507 T A 7: 35,494,268 (GRCm39) K258N probably damaging Het
Zscan5b A G 7: 6,234,442 (GRCm39) H156R possibly damaging Het
Other mutations in Dvl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Dvl1 APN 4 155,938,155 (GRCm39) missense possibly damaging 0.85
IGL01930:Dvl1 APN 4 155,940,645 (GRCm39) missense possibly damaging 0.72
IGL02499:Dvl1 APN 4 155,939,237 (GRCm39) missense probably benign 0.10
IGL03075:Dvl1 APN 4 155,939,040 (GRCm39) missense probably damaging 0.99
IGL03089:Dvl1 APN 4 155,939,609 (GRCm39) missense probably damaging 1.00
R0525:Dvl1 UTSW 4 155,940,052 (GRCm39) missense probably damaging 0.99
R0624:Dvl1 UTSW 4 155,939,232 (GRCm39) missense probably damaging 1.00
R0633:Dvl1 UTSW 4 155,942,752 (GRCm39) missense probably damaging 1.00
R1459:Dvl1 UTSW 4 155,938,476 (GRCm39) missense probably damaging 0.99
R1955:Dvl1 UTSW 4 155,942,486 (GRCm39) missense possibly damaging 0.69
R1991:Dvl1 UTSW 4 155,932,273 (GRCm39) missense possibly damaging 0.84
R2144:Dvl1 UTSW 4 155,932,273 (GRCm39) missense possibly damaging 0.84
R2145:Dvl1 UTSW 4 155,932,273 (GRCm39) missense possibly damaging 0.84
R2156:Dvl1 UTSW 4 155,932,273 (GRCm39) missense possibly damaging 0.84
R2192:Dvl1 UTSW 4 155,932,273 (GRCm39) missense possibly damaging 0.84
R2290:Dvl1 UTSW 4 155,932,273 (GRCm39) missense possibly damaging 0.84
R2292:Dvl1 UTSW 4 155,932,273 (GRCm39) missense possibly damaging 0.84
R2304:Dvl1 UTSW 4 155,940,041 (GRCm39) missense probably damaging 0.98
R2519:Dvl1 UTSW 4 155,940,000 (GRCm39) nonsense probably null
R3082:Dvl1 UTSW 4 155,932,316 (GRCm39) missense possibly damaging 0.92
R3110:Dvl1 UTSW 4 155,938,123 (GRCm39) missense probably damaging 0.98
R3112:Dvl1 UTSW 4 155,938,123 (GRCm39) missense probably damaging 0.98
R4775:Dvl1 UTSW 4 155,942,584 (GRCm39) missense probably benign
R5384:Dvl1 UTSW 4 155,938,143 (GRCm39) missense probably damaging 0.99
R6148:Dvl1 UTSW 4 155,939,409 (GRCm39) missense probably damaging 1.00
R6563:Dvl1 UTSW 4 155,940,710 (GRCm39) missense probably damaging 1.00
R7293:Dvl1 UTSW 4 155,940,625 (GRCm39) missense possibly damaging 0.93
R7746:Dvl1 UTSW 4 155,940,696 (GRCm39) missense possibly damaging 0.93
R8385:Dvl1 UTSW 4 155,940,037 (GRCm39) missense possibly damaging 0.68
R8847:Dvl1 UTSW 4 155,942,611 (GRCm39) missense possibly damaging 0.90
Z1176:Dvl1 UTSW 4 155,940,068 (GRCm39) missense probably benign 0.04
Z1177:Dvl1 UTSW 4 155,932,094 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TCAGAGCCGCTTTCCCTGG -3'
(R):5'- GGGCGCAGAAACTCTACCTAC -3'

Sequencing Primer
(F):5'- CGACAGGCGGGGAACGG -3'
(R):5'- TACACCTGCTGTAGATGCGCAG -3'
Posted On 2014-10-02