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 CRAM, CRMP-5, Crmp5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # IGL02177
Quality Score
Status
Chromosome 5
Chromosomal Location 30711564-30799375 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 30745278 bp (GRCm38)
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: 53,216,892 Y24* probably null Het
Catsperb A G 12: 101,541,462 Y496C probably damaging Het
Ccdc183 C T 2: 25,612,083 E260K probably benign Het
Ccdc81 A C 7: 89,875,780 M531R possibly damaging Het
Cyp3a16 T A 5: 145,450,154 N342I probably benign Het
Defb43 T C 14: 63,011,817 V3A probably benign Het
Dpyd T A 3: 119,064,910 I591N possibly damaging Het
Erc2 A T 14: 27,898,623 M69L probably benign Het
Fam184b G T 5: 45,532,815 Y817* probably null Het
Fyb G T 15: 6,658,566 probably null Het
Gpr33 G T 12: 52,024,080 Q59K probably benign Het
Heatr3 T G 8: 88,156,723 F278V probably benign Het
Hectd1 A T 12: 51,772,320 D1292E probably damaging Het
Herc1 A T 9: 66,434,511 M1861L probably benign Het
Hspg2 T A 4: 137,515,316 L614Q probably damaging Het
Itpr3 A G 17: 27,099,614 R915G possibly damaging Het
Jhy T C 9: 40,898,257 D646G probably damaging Het
Lrig1 T A 6: 94,663,996 N76I possibly damaging Het
Macc1 A G 12: 119,465,557 D814G probably damaging Het
Mapk8ip1 T C 2: 92,386,747 D401G probably damaging Het
Nedd4 T A 9: 72,747,157 S865T probably damaging Het
Olfr1412 G A 1: 92,588,757 M142I possibly damaging Het
Pi4ka A T 16: 17,318,282 D937E probably benign Het
Prkcd T A 14: 30,605,887 I81F probably damaging Het
Ranbp9 A T 13: 43,419,717 C280S probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scn1b T C 7: 31,117,230 *219W probably null Het
Slain2 T C 5: 72,914,665 V14A probably benign Het
Soat1 A T 1: 156,440,503 probably benign Het
Tbc1d4 T A 14: 101,454,939 M1030L possibly damaging Het
Tenm4 T C 7: 96,895,662 V2295A probably benign Het
Tmem135 A G 7: 89,338,453 Y46H probably damaging Het
Tnfsf18 A T 1: 161,503,785 D168V probably damaging Het
Trdn T C 10: 33,139,173 V41A probably damaging Het
Trpc5 G T X: 144,481,238 L208I probably damaging Het
Vmn1r50 T C 6: 90,108,157 Y295H probably benign Het
Vmn2r18 T G 5: 151,586,809 H33P possibly damaging Het
Vmn2r84 T C 10: 130,392,012 I118M probably benign Het
Other mutations in Dpysl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02277:Dpysl5 APN 5 30788781 missense probably damaging 1.00
R0517:Dpysl5 UTSW 5 30778066 missense probably damaging 0.99
R0788:Dpysl5 UTSW 5 30788841 critical splice donor site probably null
R1716:Dpysl5 UTSW 5 30777994 missense probably benign 0.00
R2016:Dpysl5 UTSW 5 30791597 missense probably damaging 1.00
R2208:Dpysl5 UTSW 5 30791597 missense probably damaging 1.00
R2211:Dpysl5 UTSW 5 30791597 missense probably damaging 1.00
R2965:Dpysl5 UTSW 5 30791597 missense probably damaging 1.00
R4440:Dpysl5 UTSW 5 30792268 missense probably damaging 0.99
R4863:Dpysl5 UTSW 5 30784343 missense probably benign 0.08
R4918:Dpysl5 UTSW 5 30792268 missense probably damaging 1.00
R5377:Dpysl5 UTSW 5 30791513 missense probably damaging 1.00
R6379:Dpysl5 UTSW 5 30777973 critical splice acceptor site probably null
R6621:Dpysl5 UTSW 5 30784469 critical splice donor site probably null
R7199:Dpysl5 UTSW 5 30783195 missense probably benign 0.21
R7232:Dpysl5 UTSW 5 30792298 missense probably benign 0.03
R7388:Dpysl5 UTSW 5 30745461 missense probably benign
R7446:Dpysl5 UTSW 5 30778887 missense probably benign 0.00
R7868:Dpysl5 UTSW 5 30745416 missense probably damaging 1.00
R8041:Dpysl5 UTSW 5 30796314 missense probably benign 0.28
R8428:Dpysl5 UTSW 5 30745467 missense probably damaging 0.99
R8835:Dpysl5 UTSW 5 30778938 critical splice donor site probably null
R8888:Dpysl5 UTSW 5 30745343 missense probably benign 0.01
R8943:Dpysl5 UTSW 5 30778031 missense probably benign 0.33
R9033:Dpysl5 UTSW 5 30791597 missense probably damaging 1.00
R9139:Dpysl5 UTSW 5 30778053 missense probably benign 0.45
R9305:Dpysl5 UTSW 5 30791615 missense probably damaging 1.00
R9522:Dpysl5 UTSW 5 30778055 nonsense probably null
R9700:Dpysl5 UTSW 5 30747073 nonsense probably null
Z1176:Dpysl5 UTSW 5 30778120 missense probably benign 0.01
Posted On 2015-04-16