Incidental Mutation 'IGL02277:Dpysl5'
ID 287357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpysl5
Ensembl Gene ENSMUSG00000029168
Gene Name dihydropyrimidinase-like 5
Synonyms CRMP-5, Crmp5, CRAM
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # IGL02277
Quality Score
Status
Chromosome 5
Chromosomal Location 30868908-30956713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30946125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 344 (I344V)
Ref Sequence ENSEMBL: ENSMUSP00000110377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088081] [ENSMUST00000114729]
AlphaFold Q9EQF6
Predicted Effect probably damaging
Transcript: ENSMUST00000088081
AA Change: I344V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085400
Gene: ENSMUSG00000029168
AA Change: I344V

DomainStartEndE-ValueType
Pfam:Amidohydro_5 28 97 3.4e-11 PFAM
Pfam:Amidohydro_4 52 403 4.3e-17 PFAM
Pfam:Amidohydro_1 57 406 2.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114729
AA Change: I344V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110377
Gene: ENSMUSG00000029168
AA Change: I344V

DomainStartEndE-ValueType
Pfam:Amidohydro_1 57 446 1.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198503
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 CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit limb grasping, abnormal Purkinje morphology, absent long term depression, and no response to BDNF. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C T 9: 57,165,708 (GRCm39) G222D probably benign Het
Abcc6 T C 7: 45,650,485 (GRCm39) D625G probably benign Het
Akr1c12 C T 13: 4,322,268 (GRCm39) R258Q probably damaging Het
Akr1c20 T A 13: 4,564,404 (GRCm39) E36D probably benign Het
Csn2 A G 5: 87,845,881 (GRCm39) probably benign Het
Dennd5a T C 7: 109,497,176 (GRCm39) I1084V possibly damaging Het
Dlg1 A G 16: 31,609,082 (GRCm39) I259V probably damaging Het
Fcrl6 A G 1: 172,426,686 (GRCm39) C87R probably damaging Het
Fras1 A G 5: 96,735,977 (GRCm39) E524G probably benign Het
Gabpb2 A G 3: 95,096,595 (GRCm39) V270A probably benign Het
Gm5591 T A 7: 38,218,462 (GRCm39) I804F possibly damaging Het
Gm5591 T C 7: 38,219,856 (GRCm39) D339G probably damaging Het
Ighv2-5 T A 12: 113,649,127 (GRCm39) T109S possibly damaging Het
Ints4 T A 7: 97,136,665 (GRCm39) L119Q probably damaging Het
Kansl3 A T 1: 36,388,028 (GRCm39) D386E possibly damaging Het
Kdm3b A T 18: 34,956,717 (GRCm39) H1224L probably damaging Het
Macf1 C A 4: 123,380,497 (GRCm39) R1523L probably damaging Het
Myo1f A G 17: 33,798,835 (GRCm39) probably null Het
Nup188 A G 2: 30,216,523 (GRCm39) T776A possibly damaging Het
Or1q1 G A 2: 36,887,196 (GRCm39) probably null Het
Or2y8 T A 11: 52,036,189 (GRCm39) H56L probably damaging Het
Or4f56 T A 2: 111,703,925 (GRCm39) I92F possibly damaging Het
Plxnb1 T A 9: 108,941,201 (GRCm39) L1660Q probably damaging Het
Ppp1r17 A G 6: 56,003,123 (GRCm39) D71G probably damaging Het
Ptprt T C 2: 161,389,301 (GRCm39) Q1264R probably damaging Het
Rgl3 C T 9: 21,885,405 (GRCm39) V642M probably damaging Het
Slc26a2 T C 18: 61,332,052 (GRCm39) T460A probably damaging Het
Smtnl2 T A 11: 72,282,199 (GRCm39) M395L probably damaging Het
St3gal5 A T 6: 72,119,184 (GRCm39) T99S possibly damaging Het
Unc5b T C 10: 60,610,521 (GRCm39) N421S probably benign Het
Zcchc17 G A 4: 130,221,014 (GRCm39) T179M probably benign Het
Zfp369 T C 13: 65,432,746 (GRCm39) S79P probably damaging Het
Other mutations in Dpysl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02177:Dpysl5 APN 5 30,902,622 (GRCm39) missense probably damaging 1.00
R0517:Dpysl5 UTSW 5 30,935,410 (GRCm39) missense probably damaging 0.99
R0788:Dpysl5 UTSW 5 30,946,185 (GRCm39) critical splice donor site probably null
R1716:Dpysl5 UTSW 5 30,935,338 (GRCm39) missense probably benign 0.00
R2016:Dpysl5 UTSW 5 30,948,941 (GRCm39) missense probably damaging 1.00
R2208:Dpysl5 UTSW 5 30,948,941 (GRCm39) missense probably damaging 1.00
R2211:Dpysl5 UTSW 5 30,948,941 (GRCm39) missense probably damaging 1.00
R2965:Dpysl5 UTSW 5 30,948,941 (GRCm39) missense probably damaging 1.00
R4440:Dpysl5 UTSW 5 30,949,612 (GRCm39) missense probably damaging 0.99
R4863:Dpysl5 UTSW 5 30,941,687 (GRCm39) missense probably benign 0.08
R4918:Dpysl5 UTSW 5 30,949,612 (GRCm39) missense probably damaging 1.00
R5377:Dpysl5 UTSW 5 30,948,857 (GRCm39) missense probably damaging 1.00
R6379:Dpysl5 UTSW 5 30,935,317 (GRCm39) critical splice acceptor site probably null
R6621:Dpysl5 UTSW 5 30,941,813 (GRCm39) critical splice donor site probably null
R7199:Dpysl5 UTSW 5 30,940,539 (GRCm39) missense probably benign 0.21
R7232:Dpysl5 UTSW 5 30,949,642 (GRCm39) missense probably benign 0.03
R7388:Dpysl5 UTSW 5 30,902,805 (GRCm39) missense probably benign
R7446:Dpysl5 UTSW 5 30,936,231 (GRCm39) missense probably benign 0.00
R7868:Dpysl5 UTSW 5 30,902,760 (GRCm39) missense probably damaging 1.00
R8041:Dpysl5 UTSW 5 30,953,658 (GRCm39) missense probably benign 0.28
R8428:Dpysl5 UTSW 5 30,902,811 (GRCm39) missense probably damaging 0.99
R8835:Dpysl5 UTSW 5 30,936,282 (GRCm39) critical splice donor site probably null
R8888:Dpysl5 UTSW 5 30,902,687 (GRCm39) missense probably benign 0.01
R8943:Dpysl5 UTSW 5 30,935,375 (GRCm39) missense probably benign 0.33
R9033:Dpysl5 UTSW 5 30,948,941 (GRCm39) missense probably damaging 1.00
R9139:Dpysl5 UTSW 5 30,935,397 (GRCm39) missense probably benign 0.45
R9305:Dpysl5 UTSW 5 30,948,959 (GRCm39) missense probably damaging 1.00
R9522:Dpysl5 UTSW 5 30,935,399 (GRCm39) nonsense probably null
R9700:Dpysl5 UTSW 5 30,904,417 (GRCm39) nonsense probably null
Z1176:Dpysl5 UTSW 5 30,935,464 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16