Incidental Mutation 'R9305:Dpysl5'
ID 705155
Institutional Source Beutler Lab
Gene Symbol Dpysl5
Ensembl Gene ENSMUSG00000029168
Gene Name dihydropyrimidinase-like 5
Synonyms CRAM, CRMP-5, Crmp5
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R9305 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 30711564-30799375 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30791615 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 405 (W405R)
Ref Sequence ENSEMBL: ENSMUSP00000085400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088081] [ENSMUST00000114729]
AlphaFold Q9EQF6
Predicted Effect probably damaging
Transcript: ENSMUST00000088081
AA Change: W405R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085400
Gene: ENSMUSG00000029168
AA Change: W405R

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: W405R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110377
Gene: ENSMUSG00000029168
AA Change: W405R

DomainStartEndE-ValueType
Pfam:Amidohydro_1 57 446 1.1e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik A T 2: 85,500,305 C219* probably null Het
4932438A13Rik A G 3: 37,044,820 I1277V Het
Abca16 A G 7: 120,527,766 I1227V probably benign Het
Abhd8 A G 8: 71,458,504 V261A possibly damaging Het
Adam34 A T 8: 43,651,379 C410S probably damaging Het
Adamts17 T C 7: 66,839,897 L21P probably damaging Het
Adgre1 A G 17: 57,441,275 N492D probably benign Het
Aldh1b1 G A 4: 45,803,811 V450M probably damaging Het
Apob A G 12: 8,008,053 I2178M probably benign Het
Atp9a A T 2: 168,675,243 I390N probably benign Het
Cacng2 T G 15: 78,013,342 Y89S possibly damaging Het
Capn10 T C 1: 92,943,943 probably null Het
Casq2 A G 3: 102,145,384 D404G unknown Het
Cdh9 T A 15: 16,832,052 Y342N probably damaging Het
Cenpf T C 1: 189,660,074 probably null Het
Cep295nl G A 11: 118,333,940 P26L possibly damaging Het
Chmp4c T G 3: 10,389,914 S214A probably benign Het
Clstn2 T A 9: 97,461,484 I637F probably damaging Het
Csmd1 G T 8: 15,961,532 T2507K probably benign Het
Ddx55 C T 5: 124,566,949 S427F probably damaging Het
Esyt1 A G 10: 128,519,519 V451A possibly damaging Het
Fam186b G A 15: 99,279,735 A570V probably damaging Het
Foxa3 A G 7: 19,015,036 L55P possibly damaging Het
Gng2 G T 14: 19,875,893 H44N probably damaging Het
Hps5 G A 7: 46,789,195 T38I possibly damaging Het
Igf2 G A 7: 142,654,416 R64C probably damaging Het
Klb T A 5: 65,348,645 Y78* probably null Het
Krt32 T C 11: 100,081,203 T440A probably benign Het
Kynu T A 2: 43,679,756 F350Y probably damaging Het
Lrp1b A T 2: 41,728,562 S281T Het
Lrrc43 C T 5: 123,508,156 A657V unknown Het
Mief2 C A 11: 60,731,216 P204Q possibly damaging Het
Morc3 G T 16: 93,870,414 R560L probably benign Het
Olfr131 A T 17: 38,082,738 V80D probably damaging Het
Olfr898 A C 9: 38,349,085 M1L probably benign Het
Orc3 G A 4: 34,607,181 R50* probably null Het
Osbpl6 T A 2: 76,548,372 D124E probably damaging Het
Parp4 TG T 14: 56,595,333 probably null Het
Parp4 T C 14: 56,614,767 probably null Het
Pcdhb18 A C 18: 37,491,951 H778P probably benign Het
Polg A T 7: 79,456,112 Y710N probably benign Het
Ppp2r2b C A 18: 42,645,960 R370L possibly damaging Het
Prune2 A G 19: 17,120,261 D1043G probably benign Het
Rpl6 T C 5: 121,208,453 S206P possibly damaging Het
Serpina3i T C 12: 104,268,622 V404A probably damaging Het
Serpinb8 T C 1: 107,599,039 probably null Het
Stx11 A T 10: 12,941,820 D53E probably benign Het
Thoc3 C T 13: 54,460,185 W315* probably null Het
Tmem26 G A 10: 68,723,986 W29* probably null Het
Togaram2 A G 17: 71,689,413 E137G probably damaging Het
Ttc39b A G 4: 83,232,786 L524S probably damaging Het
Usp43 T C 11: 67,876,519 N675S probably damaging Het
Vmn2r104 A G 17: 20,048,177 L10P possibly damaging Het
Zbtb1 G A 12: 76,385,999 R253Q probably damaging Het
Zfc3h1 A G 10: 115,419,866 D1474G probably benign Het
Zfp873 T C 10: 82,060,680 F415S probably benign Het
Other mutations in Dpysl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02177:Dpysl5 APN 5 30745278 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATAAATGACCACAGCTGGGG -3'
(R):5'- GGAATGGTACCCAGAACTGTC -3'

Sequencing Primer
(F):5'- CTGGGGTAGCAAGTGCCTG -3'
(R):5'- TCTCAAATACGGTGCCACGGTAG -3'
Posted On 2022-03-25