Incidental Mutation 'IGL01451:Dpysl2'
ID84644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpysl2
Ensembl Gene ENSMUSG00000022048
Gene Namedihydropyrimidinase-like 2
SynonymsDRP2, Crmp2, Ulip2, TOAD-64
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.526) question?
Stock #IGL01451
Quality Score
Status
Chromosome14
Chromosomal Location66802864-66868688 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66807918 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 469 (I469F)
Ref Sequence ENSEMBL: ENSMUSP00000022629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022629]
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: 124,579,878 S23P possibly damaging Het
Adam1a T C 5: 121,519,376 Y618C probably benign Het
Amigo2 A C 15: 97,245,226 S438R probably benign Het
Atp5k T C 5: 108,434,056 I21V probably benign Het
Dnah2 T C 11: 69,474,191 probably benign Het
Dock2 A G 11: 34,310,390 Y984H probably damaging Het
Edem3 C T 1: 151,818,628 T886I probably benign Het
Gart T C 16: 91,625,512 T706A probably benign Het
Gfpt2 A T 11: 49,807,690 probably benign Het
Gm11541 T G 11: 94,695,669 D84A unknown Het
Gne T C 4: 44,041,860 probably null Het
Gria4 A T 9: 4,503,652 D321E probably benign Het
Ift122 T G 6: 115,912,604 probably null Het
Lcp2 A T 11: 34,047,345 probably benign Het
Mcm2 C T 6: 88,891,966 probably benign Het
Olfr921 A G 9: 38,775,929 I225V probably benign Het
Ptpru C A 4: 131,769,492 probably benign Het
Rpap2 T C 5: 107,603,626 probably null Het
Slc25a39 T C 11: 102,404,900 T138A probably damaging Het
St6galnac1 A C 11: 116,769,339 S49R probably benign Het
Stat1 T C 1: 52,139,343 L312P probably damaging Het
Tmem198 T C 1: 75,484,370 probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Treml4 T C 17: 48,264,995 probably benign Het
Trpm6 A G 19: 18,809,569 D503G probably damaging Het
Ttn C A 2: 76,945,273 E1854D unknown Het
Ubqln3 A T 7: 104,142,196 M229K possibly damaging Het
Zfyve9 T C 4: 108,682,260 T939A probably damaging Het
Other mutations in Dpysl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Dpysl2 APN 14 66834232 missense probably damaging 1.00
IGL02080:Dpysl2 APN 14 66829945 missense probably benign 0.01
IGL02313:Dpysl2 APN 14 66824390 missense probably benign 0.01
IGL02530:Dpysl2 APN 14 66824398 missense probably damaging 1.00
IGL03082:Dpysl2 APN 14 66808010 missense probably damaging 1.00
IGL03357:Dpysl2 APN 14 66813287 missense probably damaging 0.97
R0491:Dpysl2 UTSW 14 66807962 missense probably damaging 1.00
R0564:Dpysl2 UTSW 14 66805446 splice site probably benign
R1121:Dpysl2 UTSW 14 66862552 missense probably benign 0.13
R1190:Dpysl2 UTSW 14 66824401 missense probably benign 0.17
R1595:Dpysl2 UTSW 14 66815503 missense probably damaging 1.00
R1786:Dpysl2 UTSW 14 66862665 splice site probably benign
R1830:Dpysl2 UTSW 14 66868391 unclassified probably benign
R2076:Dpysl2 UTSW 14 66865122 missense probably damaging 1.00
R3615:Dpysl2 UTSW 14 66834370 missense probably damaging 1.00
R3616:Dpysl2 UTSW 14 66834370 missense probably damaging 1.00
R3928:Dpysl2 UTSW 14 66824431 missense possibly damaging 0.71
R4209:Dpysl2 UTSW 14 66815477 missense probably damaging 0.98
R4211:Dpysl2 UTSW 14 66815477 missense probably damaging 0.98
R4793:Dpysl2 UTSW 14 66815049 missense possibly damaging 0.93
R4859:Dpysl2 UTSW 14 66829439 missense probably damaging 1.00
R5640:Dpysl2 UTSW 14 66834368 missense probably benign 0.43
R5708:Dpysl2 UTSW 14 66813146 missense probably benign 0.07
R5808:Dpysl2 UTSW 14 66865172 critical splice acceptor site probably null
R7045:Dpysl2 UTSW 14 66829946 missense probably benign 0.06
R7140:Dpysl2 UTSW 14 66862533 missense probably benign 0.00
R7211:Dpysl2 UTSW 14 66829976 missense probably damaging 0.99
R7316:Dpysl2 UTSW 14 66862595 missense possibly damaging 0.94
R7361:Dpysl2 UTSW 14 66834215 missense possibly damaging 0.95
R7772:Dpysl2 UTSW 14 66828976 intron probably null
R7852:Dpysl2 UTSW 14 66862643 missense probably benign 0.07
R7935:Dpysl2 UTSW 14 66862643 missense probably benign 0.07
Z1177:Dpysl2 UTSW 14 66862490 missense probably damaging 1.00
Posted On2013-11-11