Incidental Mutation 'R6060:Dpysl4'
ID 483191
Institutional Source Beutler Lab
Gene Symbol Dpysl4
Ensembl Gene ENSMUSG00000025478
Gene Name dihydropyrimidinase-like 4
Synonyms CRMP-3, Crmp3, DPY4, unc-33-like phosphoprotein 4, Drp-4, Ulip4
MMRRC Submission 044426-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R6060 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 138665917-138681711 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 138669324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000112896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026551] [ENSMUST00000121184] [ENSMUST00000145499]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026551
SMART Domains Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478

DomainStartEndE-ValueType
Pfam:Amidohydro_1 64 453 4.5e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000121184
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Amidohydro_1 85 474 1.1e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139364
Predicted Effect probably benign
Transcript: ENSMUST00000145499
SMART Domains Protein: ENSMUSP00000117764
Gene: ENSMUSG00000025478

DomainStartEndE-ValueType
Pfam:Amidohydro_1 1 148 2.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154273
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Homozygous null mice exhibit abnormal neurite outgrowth and lamination in the hippocampus, altered dendrite arborization and spine morphology in hippocampal pyramidal cells, and impaired LTP induction in the CA1 region. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A G 16: 88,966,630 (GRCm39) probably null Het
Adh1 T C 3: 137,992,544 (GRCm39) I220T probably damaging Het
Ajap1 G A 4: 153,516,699 (GRCm39) T214I probably damaging Het
Ank2 A G 3: 126,749,601 (GRCm39) F476S probably damaging Het
Atp6v1g3 A G 1: 138,201,582 (GRCm39) K27E possibly damaging Het
BC034090 A G 1: 155,117,245 (GRCm39) I291T probably benign Het
Cnot9 T A 1: 74,556,285 (GRCm39) N27K probably benign Het
Cyp2c70 A T 19: 40,153,857 (GRCm39) L244* probably null Het
Cyp2d22 T C 15: 82,260,086 (GRCm39) T6A probably benign Het
D630045J12Rik T C 6: 38,107,799 (GRCm39) E1829G probably damaging Het
Dnajc4 G T 19: 6,968,093 (GRCm39) S61* probably null Het
Fam149a T A 8: 45,811,799 (GRCm39) probably benign Het
Fam184b T C 5: 45,710,489 (GRCm39) E547G probably damaging Het
Fam47e T A 5: 92,727,472 (GRCm39) F127I possibly damaging Het
Ifi207 G A 1: 173,558,093 (GRCm39) T215I unknown Het
Iftap T C 2: 101,440,950 (GRCm39) K18E probably benign Het
Lpxn T C 19: 12,810,489 (GRCm39) L311P probably damaging Het
Lrp1b A T 2: 40,640,946 (GRCm39) N3499K Het
Mknk2 A T 10: 80,507,468 (GRCm39) D76E probably benign Het
Nectin2 A T 7: 19,451,700 (GRCm39) Y445N probably damaging Het
Ngb A C 12: 87,146,963 (GRCm39) S85A probably benign Het
Nrp1 C A 8: 129,224,419 (GRCm39) H727Q probably damaging Het
Or5b112 C T 19: 13,319,497 (GRCm39) A125V probably benign Het
Or6k2 C A 1: 173,986,907 (GRCm39) C189* probably null Het
Pold3 A C 7: 99,749,819 (GRCm39) Y115* probably null Het
Ppp1r12b C G 1: 134,883,262 (GRCm39) V87L probably benign Het
Ppp1r26 A G 2: 28,341,042 (GRCm39) N224S probably benign Het
Prl7a1 G A 13: 27,821,571 (GRCm39) P122S probably damaging Het
Rc3h2 T C 2: 37,289,612 (GRCm39) H400R possibly damaging Het
Rnf32 A T 5: 29,411,752 (GRCm39) I214L probably benign Het
Safb2 A T 17: 56,870,246 (GRCm39) probably null Het
Serpinb6e A G 13: 34,025,256 (GRCm39) C12R possibly damaging Het
Sh2b2 A T 5: 136,261,209 (GRCm39) N2K possibly damaging Het
Slc12a4 G A 8: 106,672,338 (GRCm39) A821V probably damaging Het
Slc41a1 A G 1: 131,767,972 (GRCm39) M179V probably benign Het
Slc9a3 A G 13: 74,299,004 (GRCm39) Y141C probably damaging Het
Tenm4 G A 7: 96,522,918 (GRCm39) V1450I probably damaging Het
Trmt1l A G 1: 151,333,331 (GRCm39) N642S possibly damaging Het
Ttll13 G A 7: 79,908,491 (GRCm39) R576H probably damaging Het
Zar1 T A 5: 72,738,272 (GRCm39) R43S probably benign Het
Zfp455 A G 13: 67,355,257 (GRCm39) Y175C probably damaging Het
Other mutations in Dpysl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Dpysl4 APN 7 138,676,092 (GRCm39) missense probably damaging 1.00
IGL01836:Dpysl4 APN 7 138,676,089 (GRCm39) missense possibly damaging 0.96
IGL02447:Dpysl4 APN 7 138,678,516 (GRCm39) missense probably damaging 1.00
IGL02515:Dpysl4 APN 7 138,676,651 (GRCm39) missense probably damaging 1.00
IGL03169:Dpysl4 APN 7 138,679,826 (GRCm39) splice site probably null
PIT4382001:Dpysl4 UTSW 7 138,669,494 (GRCm39) nonsense probably null
R0012:Dpysl4 UTSW 7 138,677,799 (GRCm39) missense probably benign 0.32
R0012:Dpysl4 UTSW 7 138,677,799 (GRCm39) missense probably benign 0.32
R1624:Dpysl4 UTSW 7 138,669,469 (GRCm39) missense probably damaging 1.00
R1642:Dpysl4 UTSW 7 138,670,254 (GRCm39) missense probably damaging 1.00
R1860:Dpysl4 UTSW 7 138,670,215 (GRCm39) missense probably benign
R1885:Dpysl4 UTSW 7 138,676,723 (GRCm39) missense probably damaging 1.00
R1995:Dpysl4 UTSW 7 138,676,686 (GRCm39) missense probably benign
R2698:Dpysl4 UTSW 7 138,676,681 (GRCm39) missense probably damaging 1.00
R3032:Dpysl4 UTSW 7 138,676,152 (GRCm39) missense probably benign 0.01
R3762:Dpysl4 UTSW 7 138,676,672 (GRCm39) missense probably damaging 1.00
R3851:Dpysl4 UTSW 7 138,680,851 (GRCm39) missense probably damaging 1.00
R3852:Dpysl4 UTSW 7 138,680,851 (GRCm39) missense probably damaging 1.00
R4609:Dpysl4 UTSW 7 138,678,537 (GRCm39) missense probably damaging 0.99
R4972:Dpysl4 UTSW 7 138,670,206 (GRCm39) missense probably damaging 1.00
R5538:Dpysl4 UTSW 7 138,671,906 (GRCm39) missense probably benign
R5608:Dpysl4 UTSW 7 138,678,459 (GRCm39) missense probably damaging 0.97
R5762:Dpysl4 UTSW 7 138,671,853 (GRCm39) missense probably benign
R5887:Dpysl4 UTSW 7 138,676,192 (GRCm39) missense possibly damaging 0.72
R6022:Dpysl4 UTSW 7 138,666,000 (GRCm39) unclassified probably benign
R6180:Dpysl4 UTSW 7 138,670,250 (GRCm39) missense probably damaging 1.00
R6328:Dpysl4 UTSW 7 138,679,734 (GRCm39) missense probably benign
R6809:Dpysl4 UTSW 7 138,673,576 (GRCm39) missense probably benign 0.19
R6949:Dpysl4 UTSW 7 138,671,915 (GRCm39) missense probably damaging 1.00
R7647:Dpysl4 UTSW 7 138,679,689 (GRCm39) missense possibly damaging 0.92
R7695:Dpysl4 UTSW 7 138,666,039 (GRCm39) start codon destroyed probably null 0.00
R7751:Dpysl4 UTSW 7 138,669,456 (GRCm39) missense probably benign
R8129:Dpysl4 UTSW 7 138,666,076 (GRCm39) missense probably benign 0.04
R9538:Dpysl4 UTSW 7 138,670,230 (GRCm39) missense probably damaging 1.00
Z1189:Dpysl4 UTSW 7 138,669,324 (GRCm39) start codon destroyed probably null
Z1192:Dpysl4 UTSW 7 138,669,324 (GRCm39) start codon destroyed probably null
Predicted Primers
Posted On 2017-07-14