Incidental Mutation 'R4775:Dvl1'
ID 367833
Institutional Source Beutler Lab
Gene Symbol Dvl1
Ensembl Gene ENSMUSG00000029071
Gene Name dishevelled segment polarity protein 1
Synonyms
MMRRC Submission 041991-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4775 (G1)
Quality Score 207
Status Not validated
Chromosome 4
Chromosomal Location 155931859-155943760 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155942584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 617 (W617R)
Ref Sequence ENSEMBL: ENSMUSP00000133137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030948] [ENSMUST00000030949] [ENSMUST00000168552]
AlphaFold P51141
Predicted Effect probably benign
Transcript: ENSMUST00000030948
AA Change: W617R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071
AA Change: W617R

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 probably benign
Transcript: ENSMUST00000030949
SMART Domains Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 72 469 2e-79 PFAM
Pfam:NCD3G 500 552 1.9e-16 PFAM
Pfam:7tm_3 576 821 9.6e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156997
Predicted Effect probably benign
Transcript: ENSMUST00000168552
AA Change: W617R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071
AA Change: W617R

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,134,165 (GRCm39) Y426C probably damaging Het
Adam7 A G 14: 68,745,361 (GRCm39) I621T probably benign Het
Adamts1 A T 16: 85,597,278 (GRCm39) Y260* probably null Het
Adgrf1 C T 17: 43,622,054 (GRCm39) L764F probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Atp9b A G 18: 80,808,984 (GRCm39) probably null Het
C5ar2 A C 7: 15,971,540 (GRCm39) L129R probably damaging Het
Ccdc174 G A 6: 91,867,875 (GRCm39) probably null Het
Cidec T C 6: 113,411,695 (GRCm39) M1V probably null Het
Clec16a G T 16: 10,456,778 (GRCm39) R663L probably damaging Het
Col25a1 T C 3: 129,976,468 (GRCm39) C118R possibly damaging Het
Cox6b2 A G 7: 4,755,074 (GRCm39) C67R probably damaging Het
Cspg4b A T 13: 113,454,229 (GRCm39) I92F possibly damaging Het
Cwf19l2 A G 9: 3,430,973 (GRCm39) Y435C probably benign Het
Dapk1 T A 13: 60,897,156 (GRCm39) S792T probably benign Het
Dis3l T A 9: 64,238,190 (GRCm39) N101Y probably benign Het
Dsg4 A G 18: 20,604,184 (GRCm39) T884A possibly damaging Het
Eml5 A G 12: 98,768,566 (GRCm39) V1503A probably benign Het
Engase A T 11: 118,373,497 (GRCm39) D280V probably benign Het
F11r T C 1: 171,289,209 (GRCm39) S224P probably damaging Het
Fanca A G 8: 124,023,045 (GRCm39) V564A probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gle1 T C 2: 29,826,073 (GRCm39) W51R possibly damaging Het
Gm94 A G 18: 43,925,836 (GRCm39) probably null Het
Gm9830 A T 9: 44,375,721 (GRCm39) noncoding transcript Het
Gpaa1 T A 15: 76,218,891 (GRCm39) probably null Het
Grin1 C T 2: 25,182,475 (GRCm39) A929T possibly damaging Het
Grm7 T A 6: 110,891,332 (GRCm39) D188E probably damaging Het
Gtf2ird2 T C 5: 134,242,970 (GRCm39) F395L probably benign Het
Lipo3 C A 19: 33,757,795 (GRCm39) G225C probably damaging Het
Lonrf2 T A 1: 38,857,140 (GRCm39) probably null Het
Marveld2 A G 13: 100,753,303 (GRCm39) probably benign Het
Mpl A G 4: 118,305,777 (GRCm39) L416P probably damaging Het
Mppe1 A G 18: 67,359,930 (GRCm39) L312P possibly damaging Het
Mpzl3 T A 9: 44,977,730 (GRCm39) S113T probably damaging Het
Mylk3 G A 8: 86,085,689 (GRCm39) Q149* probably null Het
Myt1 T A 2: 181,464,470 (GRCm39) I968N probably damaging Het
Ndc80 A G 17: 71,821,265 (GRCm39) Y228H probably damaging Het
Nelfcd T G 2: 174,268,369 (GRCm39) C520G probably damaging Het
Nfrkb C A 9: 31,330,345 (GRCm39) T1199K possibly damaging Het
Nipa2 A G 7: 55,585,611 (GRCm39) I109T probably benign Het
Nlrp4e A G 7: 23,042,525 (GRCm39) T804A probably benign Het
Nsf A T 11: 103,763,419 (GRCm39) I395K possibly damaging Het
Nt5c1b G A 12: 10,425,449 (GRCm39) V331I probably damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or1e29 A G 11: 73,667,377 (GRCm39) Y259H probably damaging Het
Pask T C 1: 93,265,246 (GRCm39) D3G probably damaging Het
Pglyrp3 T C 3: 91,933,037 (GRCm39) V110A possibly damaging Het
Ppp4r3a C T 12: 101,019,825 (GRCm39) V377M probably damaging Het
Prr12 A G 7: 44,700,749 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,135,922 (GRCm39) probably null Het
Qser1 A G 2: 104,620,246 (GRCm39) S189P probably damaging Het
Rph3a T A 5: 121,092,551 (GRCm39) Y350F probably benign Het
Skint4 A T 4: 111,993,261 (GRCm39) H328L probably damaging Het
Smyd4 G A 11: 75,282,018 (GRCm39) C497Y probably damaging Het
Stk11ip T C 1: 75,510,497 (GRCm39) W864R possibly damaging Het
Stkld1 T A 2: 26,841,757 (GRCm39) V543E probably damaging Het
Taok2 A G 7: 126,469,940 (GRCm39) S963P probably damaging Het
Tars2 A G 3: 95,653,959 (GRCm39) L354P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpcn2 A G 7: 144,821,079 (GRCm39) L325P probably damaging Het
Trappc3l C G 10: 33,974,807 (GRCm39) H96Q probably benign Het
Trim66 A T 7: 109,056,796 (GRCm39) Y1120* probably null Het
Trio G A 15: 27,881,428 (GRCm39) Q548* probably null Het
Wipf2 T A 11: 98,781,558 (GRCm39) D32E probably benign 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
R2191: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
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'- ACCATCTCCAGGCTTACCAG -3'
(R):5'- TGTAAGTTCTGGAGGGACAGC -3'

Sequencing Primer
(F):5'- TCCAGGCTTACCAGGTCCTG -3'
(R):5'- CTGGAGGGACAGCAGCCAG -3'
Posted On 2015-12-29