Incidental Mutation 'IGL02177:Dpysl5'
ID 283140
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 # IGL02177
Quality Score
Status
Chromosome 5
Chromosomal Location 30868908-30956713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 30902622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 18 (V18G)
Ref Sequence ENSEMBL: ENSMUSP00000110377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088081] [ENSMUST00000101442] [ENSMUST00000114729]
AlphaFold Q9EQF6
Predicted Effect probably damaging
Transcript: ENSMUST00000088081
AA Change: V18G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085400
Gene: ENSMUSG00000029168
AA Change: V18G

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: ENSMUST00000101442
AA Change: V18G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098985
Gene: ENSMUSG00000029168
AA Change: V18G

DomainStartEndE-ValueType
Pfam:Amidohydro_5 28 91 8.6e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114729
AA Change: V18G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110377
Gene: ENSMUSG00000029168
AA Change: V18G

DomainStartEndE-ValueType
Pfam:Amidohydro_1 57 446 1.1e-23 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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T G 19: 53,205,323 (GRCm39) Y24* probably null Het
Catsperb A G 12: 101,507,721 (GRCm39) Y496C probably damaging Het
Ccdc183 C T 2: 25,502,095 (GRCm39) E260K probably benign Het
Ccdc81 A C 7: 89,524,988 (GRCm39) M531R possibly damaging Het
Cyp3a16 T A 5: 145,386,964 (GRCm39) N342I probably benign Het
Defb43 T C 14: 63,249,266 (GRCm39) V3A probably benign Het
Dpyd T A 3: 118,858,559 (GRCm39) I591N possibly damaging Het
Erc2 A T 14: 27,620,580 (GRCm39) M69L probably benign Het
Fam184b G T 5: 45,690,157 (GRCm39) Y817* probably null Het
Fyb1 G T 15: 6,688,047 (GRCm39) probably null Het
Gpr33 G T 12: 52,070,863 (GRCm39) Q59K probably benign Het
Heatr3 T G 8: 88,883,351 (GRCm39) F278V probably benign Het
Hectd1 A T 12: 51,819,103 (GRCm39) D1292E probably damaging Het
Herc1 A T 9: 66,341,793 (GRCm39) M1861L probably benign Het
Hspg2 T A 4: 137,242,627 (GRCm39) L614Q probably damaging Het
Itpr3 A G 17: 27,318,588 (GRCm39) R915G possibly damaging Het
Jhy T C 9: 40,809,553 (GRCm39) D646G probably damaging Het
Lrig1 T A 6: 94,640,977 (GRCm39) N76I possibly damaging Het
Macc1 A G 12: 119,429,292 (GRCm39) D814G probably damaging Het
Mapk8ip1 T C 2: 92,217,092 (GRCm39) D401G probably damaging Het
Nedd4 T A 9: 72,654,439 (GRCm39) S865T probably damaging Het
Or9s27 G A 1: 92,516,479 (GRCm39) M142I possibly damaging Het
Pi4ka A T 16: 17,136,146 (GRCm39) D937E probably benign Het
Prkcd T A 14: 30,327,844 (GRCm39) I81F probably damaging Het
Ranbp9 A T 13: 43,573,193 (GRCm39) C280S probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scn1b T C 7: 30,816,655 (GRCm39) *219W probably null Het
Slain2 T C 5: 73,072,008 (GRCm39) V14A probably benign Het
Soat1 A T 1: 156,268,073 (GRCm39) probably benign Het
Tbc1d4 T A 14: 101,692,375 (GRCm39) M1030L possibly damaging Het
Tenm4 T C 7: 96,544,869 (GRCm39) V2295A probably benign Het
Tmem135 A G 7: 88,987,661 (GRCm39) Y46H probably damaging Het
Tnfsf18 A T 1: 161,331,354 (GRCm39) D168V probably damaging Het
Trdn T C 10: 33,015,169 (GRCm39) V41A probably damaging Het
Trpc5 G T X: 143,264,234 (GRCm39) L208I probably damaging Het
Vmn1r50 T C 6: 90,085,139 (GRCm39) Y295H probably benign Het
Vmn2r18 T G 5: 151,510,274 (GRCm39) H33P possibly damaging Het
Vmn2r84 T C 10: 130,227,881 (GRCm39) I118M probably benign Het
Other mutations in Dpysl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02277:Dpysl5 APN 5 30,946,125 (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