Incidental Mutation 'IGL01451:Dpysl2'
ID 84644
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 # IGL01451
Quality Score
Status
Chromosome 14
Chromosomal Location 67040313-67106137 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67045367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 469 (I469F)
Ref Sequence ENSEMBL: ENSMUSP00000022629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022629]
AlphaFold O08553
Predicted Effect possibly damaging
Transcript: ENSMUST00000022629
AA Change: I469F

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
AA Change: I469F

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,373,527 (GRCm39) S23P possibly damaging Het
Adam1a T C 5: 121,657,439 (GRCm39) Y618C probably benign Het
Amigo2 A C 15: 97,143,107 (GRCm39) S438R probably benign Het
Atp5me T C 5: 108,581,922 (GRCm39) I21V probably benign Het
Dnah2 T C 11: 69,365,017 (GRCm39) probably benign Het
Dock2 A G 11: 34,260,390 (GRCm39) Y984H probably damaging Het
Edem3 C T 1: 151,694,379 (GRCm39) T886I probably benign Het
Gart T C 16: 91,422,400 (GRCm39) T706A probably benign Het
Gfpt2 A T 11: 49,698,517 (GRCm39) probably benign Het
Gm11541 T G 11: 94,586,495 (GRCm39) D84A unknown Het
Gne T C 4: 44,041,860 (GRCm39) probably null Het
Gria4 A T 9: 4,503,652 (GRCm39) D321E probably benign Het
Ift122 T G 6: 115,889,565 (GRCm39) probably null Het
Lcp2 A T 11: 33,997,345 (GRCm39) probably benign Het
Mcm2 C T 6: 88,868,948 (GRCm39) probably benign Het
Or8b54 A G 9: 38,687,225 (GRCm39) I225V probably benign Het
Ptpru C A 4: 131,496,803 (GRCm39) probably benign Het
Rpap2 T C 5: 107,751,492 (GRCm39) probably null Het
Slc25a39 T C 11: 102,295,726 (GRCm39) T138A probably damaging Het
St6galnac1 A C 11: 116,660,165 (GRCm39) S49R probably benign Het
Stat1 T C 1: 52,178,502 (GRCm39) L312P probably damaging Het
Tmem198 T C 1: 75,461,014 (GRCm39) probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Treml4 T C 17: 48,572,023 (GRCm39) probably benign Het
Trpm6 A G 19: 18,786,933 (GRCm39) D503G probably damaging Het
Ttn C A 2: 76,775,617 (GRCm39) E1854D unknown Het
Ubqln3 A T 7: 103,791,403 (GRCm39) M229K possibly damaging Het
Zfyve9 T C 4: 108,539,457 (GRCm39) T939A probably damaging Het
Other mutations in Dpysl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Dpysl2 APN 14 67,071,681 (GRCm39) missense probably damaging 1.00
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
IGL03082:Dpysl2 APN 14 67,045,459 (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 2013-11-11