Incidental Mutation 'R7746:Dvl1'
ID 596834
Institutional Source Beutler Lab
Gene Symbol Dvl1
Ensembl Gene ENSMUSG00000029071
Gene Name dishevelled segment polarity protein 1
Synonyms
MMRRC Submission 045802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7746 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 155931859-155943760 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155940696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 439 (I439V)
Ref Sequence ENSEMBL: ENSMUSP00000030948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030948] [ENSMUST00000030949] [ENSMUST00000168552]
AlphaFold P51141
PDB Structure STRUCTURAL BASIS OF THE RECOGNITION OF THE DISHEVELLED DEP DOMAIN IN THE WNT SIGNALING PATHWAY [SOLUTION NMR]
Solution Structure of mDvl1 PDZ domain [SOLUTION NMR]
NMR structure of the mDvl1 PDZ domain in complex with its inhibitor [SOLUTION NMR]
Crystal structure of Dvl1-DIX(Y17D) mutant [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030948
AA Change: I439V

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071
AA Change: I439V

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 possibly damaging
Transcript: ENSMUST00000168552
AA Change: I439V

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071
AA Change: I439V

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,559,339 (GRCm39) Q184L probably benign Het
9030624G23Rik T G 12: 24,124,674 (GRCm39) S68R possibly damaging Het
Acyp1 G T 12: 85,325,832 (GRCm39) R56S unknown Het
Angpt2 C T 8: 18,742,080 (GRCm39) R492Q probably damaging Het
Ankrd36 T C 11: 5,637,451 (GRCm39) L1340P possibly damaging Het
Arhgef33 G C 17: 80,654,549 (GRCm39) probably null Het
Bach1 G A 16: 87,526,521 (GRCm39) S661N probably benign Het
Bik T C 15: 83,425,535 (GRCm39) I12T possibly damaging Het
C3 C T 17: 57,525,859 (GRCm39) R841H probably damaging Het
Cacna1s G T 1: 135,996,756 (GRCm39) R119L probably damaging Het
Cic G A 7: 24,988,207 (GRCm39) V1632M probably damaging Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Dchs2 A G 3: 83,035,364 (GRCm39) H37R possibly damaging Het
Fat1 G A 8: 45,404,670 (GRCm39) D474N probably damaging Het
Foxs1 T A 2: 152,775,028 (GRCm39) E8D probably benign Het
Garnl3 T C 2: 32,882,269 (GRCm39) D822G probably damaging Het
Gm44501 C T 17: 40,889,720 (GRCm39) A78V possibly damaging Het
Gpr19 C A 6: 134,846,355 (GRCm39) A443S probably damaging Het
Helb T C 10: 119,931,007 (GRCm39) R729G probably null Het
Lnpep G T 17: 17,758,824 (GRCm39) T840K probably benign Het
Mctp2 T C 7: 71,835,544 (GRCm39) N551S probably benign Het
Mgam T G 6: 40,645,127 (GRCm39) F635V probably damaging Het
Mlc1 G A 15: 88,848,373 (GRCm39) A262V probably damaging Het
Msantd5f9 C T 4: 73,838,099 (GRCm39) S29N possibly damaging Het
Muc5b A G 7: 141,415,976 (GRCm39) Y2974C probably benign Het
Nprl3 A T 11: 32,198,150 (GRCm39) Y208* probably null Het
Or2n1d C T 17: 38,646,285 (GRCm39) P79L probably benign Het
Or8k40 A T 2: 86,584,437 (GRCm39) L215Q probably damaging Het
Pkn2 A G 3: 142,499,868 (GRCm39) F915S probably damaging Het
Pkn3 G A 2: 29,980,596 (GRCm39) C829Y probably benign Het
Polr1a C T 6: 71,918,496 (GRCm39) P685S probably damaging Het
Ppp4r3b A G 11: 29,123,352 (GRCm39) D16G probably benign Het
Ppwd1 C T 13: 104,353,714 (GRCm39) R348H probably damaging Het
Pxdc1 T C 13: 34,823,046 (GRCm39) T98A probably benign Het
Rhbdl1 T C 17: 26,055,167 (GRCm39) I68V probably benign Het
Ror2 A G 13: 53,271,261 (GRCm39) C365R probably damaging Het
Samd4b A T 7: 28,103,328 (GRCm39) H43Q probably damaging Het
Sbf2 A T 7: 110,040,633 (GRCm39) V398D probably benign Het
Sbno2 T C 10: 79,894,708 (GRCm39) I1012M probably damaging Het
Serpinb9h A T 13: 33,581,841 (GRCm39) I133L probably damaging Het
Strn T C 17: 78,984,801 (GRCm39) T281A probably benign Het
Syt4 T A 18: 31,577,318 (GRCm39) D12V probably benign Het
Tafa1 T C 6: 96,092,737 (GRCm39) probably null Het
Tmem45a A G 16: 56,646,100 (GRCm39) L40P probably damaging Het
Tnn G A 1: 159,942,255 (GRCm39) P1081L probably damaging Het
Unc80 T C 1: 66,716,544 (GRCm39) V2888A 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
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
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'- TAAGAGGTTTGACCCTGGCC -3'
(R):5'- TCAGGAAACCGTGCTTCAGC -3'

Sequencing Primer
(F):5'- CCCTGCTCTCAACCCCATGG -3'
(R):5'- GCATACTGCTGGCATACTTTC -3'
Posted On 2019-11-26