Incidental Mutation 'IGL03082:Dpysl2'
ID 417906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpysl2
Ensembl Gene ENSMUSG00000022048
Gene Name dihydropyrimidinase-like 2
Synonyms DRP2, Crmp2, TOAD-64, Ulip2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.480) question?
Stock # IGL03082
Quality Score
Status
Chromosome 14
Chromosomal Location 67040313-67106137 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67045459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 438 (E438G)
Ref Sequence ENSEMBL: ENSMUSP00000022629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022629]
AlphaFold O08553
Predicted Effect probably damaging
Transcript: ENSMUST00000022629
AA Change: E438G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
AA Change: E438G

DomainStartEndE-ValueType
Pfam:Amidohydro_1 64 453 4.3e-54 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal dendritic patterning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic1 T A 15: 99,594,428 (GRCm39) N324K probably benign Het
Atpaf2 T C 11: 60,294,670 (GRCm39) E251G probably damaging Het
Cacna1d T C 14: 29,821,190 (GRCm39) K1109E probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chst1 C T 2: 92,444,278 (GRCm39) T250I possibly damaging Het
Cpne6 T C 14: 55,753,760 (GRCm39) L406P probably damaging Het
Cryz A G 3: 154,310,563 (GRCm39) M8V probably damaging Het
Elovl1 T C 4: 118,288,077 (GRCm39) I71T probably benign Het
Eml2 T A 7: 18,935,802 (GRCm39) Y679N probably damaging Het
Fam185a G A 5: 21,660,836 (GRCm39) V284I possibly damaging Het
Fpgs C T 2: 32,575,769 (GRCm39) W391* probably null Het
Hdac11 C T 6: 91,150,085 (GRCm39) P295S probably damaging Het
Herc2 A T 7: 55,835,671 (GRCm39) I3260F probably benign Het
Hltf G A 3: 20,118,723 (GRCm39) probably benign Het
Immp2l T G 12: 41,160,900 (GRCm39) V66G possibly damaging Het
Lrrc4c T C 2: 97,460,931 (GRCm39) I519T probably benign Het
Megf8 A G 7: 25,029,661 (GRCm39) T402A probably benign Het
Mttp T G 3: 137,829,556 (GRCm39) I111L probably benign Het
Mycbp2 T A 14: 103,441,805 (GRCm39) I1987F probably benign Het
Ncr1 T A 7: 4,344,241 (GRCm39) probably benign Het
Nedd4 G A 9: 72,584,676 (GRCm39) probably null Het
Nherf4 A T 9: 44,162,083 (GRCm39) S39T possibly damaging Het
Nnt A G 13: 119,533,404 (GRCm39) F87S probably damaging Het
Nol6 A G 4: 41,115,878 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,635,857 (GRCm39) I491N probably damaging Het
Plcxd2 T C 16: 45,785,473 (GRCm39) I311V probably damaging Het
Pou2f3 C A 9: 43,058,212 (GRCm39) probably null Het
Rgsl1 G A 1: 153,675,693 (GRCm39) T836I possibly damaging Het
Rttn G A 18: 89,002,072 (GRCm39) G328D probably damaging Het
Serpina11 T C 12: 103,952,560 (GRCm39) E77G probably benign Het
Slc35f1 G A 10: 52,809,234 (GRCm39) V74I probably benign Het
Slc7a6 A G 8: 106,919,854 (GRCm39) probably null Het
Smco2 A G 6: 146,761,542 (GRCm39) T154A possibly damaging Het
Tcerg1 A G 18: 42,706,422 (GRCm39) Y1033C probably damaging Het
Tmem87a A G 2: 120,227,847 (GRCm39) F100S possibly damaging Het
Tssk4 T C 14: 55,888,518 (GRCm39) F129S probably damaging Het
Wdr43 C T 17: 71,945,336 (GRCm39) T315I probably damaging Het
Other mutations in Dpysl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Dpysl2 APN 14 67,071,681 (GRCm39) missense probably damaging 1.00
IGL01451:Dpysl2 APN 14 67,045,367 (GRCm39) missense possibly damaging 0.64
IGL02080:Dpysl2 APN 14 67,067,394 (GRCm39) missense probably benign 0.01
IGL02313:Dpysl2 APN 14 67,061,839 (GRCm39) missense probably benign 0.01
IGL02530:Dpysl2 APN 14 67,061,847 (GRCm39) missense probably damaging 1.00
IGL03357:Dpysl2 APN 14 67,050,736 (GRCm39) missense probably damaging 0.97
R0491:Dpysl2 UTSW 14 67,045,411 (GRCm39) missense probably damaging 1.00
R0564:Dpysl2 UTSW 14 67,042,895 (GRCm39) splice site probably benign
R1121:Dpysl2 UTSW 14 67,100,001 (GRCm39) missense probably benign 0.13
R1190:Dpysl2 UTSW 14 67,061,850 (GRCm39) missense probably benign 0.17
R1595:Dpysl2 UTSW 14 67,052,952 (GRCm39) missense probably damaging 1.00
R1786:Dpysl2 UTSW 14 67,100,114 (GRCm39) splice site probably benign
R1830:Dpysl2 UTSW 14 67,105,840 (GRCm39) unclassified probably benign
R2076:Dpysl2 UTSW 14 67,102,571 (GRCm39) missense probably damaging 1.00
R3615:Dpysl2 UTSW 14 67,071,819 (GRCm39) missense probably damaging 1.00
R3616:Dpysl2 UTSW 14 67,071,819 (GRCm39) missense probably damaging 1.00
R3928:Dpysl2 UTSW 14 67,061,880 (GRCm39) missense possibly damaging 0.71
R4209:Dpysl2 UTSW 14 67,052,926 (GRCm39) missense probably damaging 0.98
R4211:Dpysl2 UTSW 14 67,052,926 (GRCm39) missense probably damaging 0.98
R4793:Dpysl2 UTSW 14 67,052,498 (GRCm39) missense possibly damaging 0.93
R4859:Dpysl2 UTSW 14 67,066,888 (GRCm39) missense probably damaging 1.00
R5640:Dpysl2 UTSW 14 67,071,817 (GRCm39) missense probably benign 0.43
R5708:Dpysl2 UTSW 14 67,050,595 (GRCm39) missense probably benign 0.07
R5808:Dpysl2 UTSW 14 67,102,621 (GRCm39) critical splice acceptor site probably null
R7045:Dpysl2 UTSW 14 67,067,395 (GRCm39) missense probably benign 0.06
R7140:Dpysl2 UTSW 14 67,099,982 (GRCm39) missense probably benign 0.00
R7211:Dpysl2 UTSW 14 67,067,425 (GRCm39) missense probably damaging 0.99
R7316:Dpysl2 UTSW 14 67,100,044 (GRCm39) missense possibly damaging 0.94
R7361:Dpysl2 UTSW 14 67,071,664 (GRCm39) missense possibly damaging 0.95
R7772:Dpysl2 UTSW 14 67,066,425 (GRCm39) splice site probably null
R7852:Dpysl2 UTSW 14 67,100,092 (GRCm39) missense probably benign 0.07
R8488:Dpysl2 UTSW 14 67,066,850 (GRCm39) missense possibly damaging 0.84
R8987:Dpysl2 UTSW 14 67,045,402 (GRCm39) missense probably damaging 1.00
R9729:Dpysl2 UTSW 14 67,099,927 (GRCm39) missense probably benign 0.01
R9771:Dpysl2 UTSW 14 67,066,833 (GRCm39) missense probably damaging 1.00
Z1177:Dpysl2 UTSW 14 67,099,939 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02