Incidental Mutation 'R7232:Dpysl5'
ID 562538
Institutional Source Beutler Lab
Gene Symbol Dpysl5
Ensembl Gene ENSMUSG00000029168
Gene Name dihydropyrimidinase-like 5
Synonyms CRMP-5, Crmp5, CRAM
MMRRC Submission 045303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R7232 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 30868908-30956713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30949642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 471 (V471I)
Ref Sequence ENSEMBL: ENSMUSP00000085400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088081] [ENSMUST00000114729]
AlphaFold Q9EQF6
Predicted Effect probably benign
Transcript: ENSMUST00000088081
AA Change: V471I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000085400
Gene: ENSMUSG00000029168
AA Change: V471I

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 benign
Transcript: ENSMUST00000114729
AA Change: V471I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110377
Gene: ENSMUSG00000029168
AA Change: V471I

DomainStartEndE-ValueType
Pfam:Amidohydro_1 57 446 1.1e-23 PFAM
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (80/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik G A 7: 40,642,603 (GRCm39) G91S probably damaging Het
Adam21 T G 12: 81,607,330 (GRCm39) N144T probably damaging Het
Adgrg7 T C 16: 56,597,515 (GRCm39) probably null Het
Angpt4 T C 2: 151,771,460 (GRCm39) S259P possibly damaging Het
Aqr A C 2: 113,936,363 (GRCm39) L1320R probably damaging Het
Arhgef10 G A 8: 14,990,323 (GRCm39) G266D probably benign Het
Bop1 A G 15: 76,337,546 (GRCm39) V693A probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdc5l A G 17: 45,738,863 (GRCm39) probably null Het
Cfap46 C A 7: 139,197,493 (GRCm39) R2126L unknown Het
Chek2 T C 5: 111,008,781 (GRCm39) V304A probably damaging Het
Cntnap4 T A 8: 113,391,731 (GRCm39) probably null Het
Ctps1 C A 4: 120,405,321 (GRCm39) G374C probably damaging Het
Defa27 A T 8: 21,805,625 (GRCm39) I22F probably damaging Het
Dnah14 T C 1: 181,584,928 (GRCm39) S3220P probably damaging Het
Dop1b T G 16: 93,557,373 (GRCm39) probably null Het
Duoxa1 T A 2: 122,135,728 (GRCm39) I124F probably damaging Het
Eif4enif1 A G 11: 3,165,678 (GRCm39) E85G possibly damaging Het
Eogt T A 6: 97,096,944 (GRCm39) I355F probably damaging Het
Epha7 T A 4: 28,951,279 (GRCm39) V800E probably damaging Het
Evi5l A G 8: 4,255,906 (GRCm39) Q633R possibly damaging Het
Fam170a T C 18: 50,414,728 (GRCm39) Y125H probably damaging Het
Fbxo15 T C 18: 84,980,747 (GRCm39) Y241H probably damaging Het
Gbe1 T C 16: 70,233,828 (GRCm39) I235T possibly damaging Het
Gfra3 C T 18: 34,844,234 (GRCm39) R102Q probably damaging Het
Gjd4 C T 18: 9,280,380 (GRCm39) G233S probably damaging Het
Gm29106 C T 1: 118,127,291 (GRCm39) P328S probably damaging Het
Hgfac G T 5: 35,204,258 (GRCm39) R507L probably damaging Het
Jakmip3 A G 7: 138,609,355 (GRCm39) K153R probably benign Het
Kcnc1 T A 7: 46,077,383 (GRCm39) V395E probably damaging Het
Krt6b T C 15: 101,586,577 (GRCm39) D304G probably damaging Het
Ldha T C 7: 46,500,323 (GRCm39) Y174H probably benign Het
Lgi4 G A 7: 30,766,776 (GRCm39) V268M possibly damaging Het
Lpar3 T G 3: 145,947,061 (GRCm39) probably null Het
Lrp3 T C 7: 34,905,477 (GRCm39) D103G probably damaging Het
Marchf5 G A 19: 37,194,713 (GRCm39) probably null Het
Muc5b A T 7: 141,419,866 (GRCm39) H4115L possibly damaging Het
Myh13 G A 11: 67,239,672 (GRCm39) D741N probably damaging Het
Naglu A T 11: 100,967,252 (GRCm39) I401F probably damaging Het
Ncam2 T A 16: 81,309,759 (GRCm39) N416K probably damaging Het
Ncan A G 8: 70,564,738 (GRCm39) L292S probably damaging Het
Nkiras1 T C 14: 18,276,732 (GRCm38) V7A probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nscme3l A T 19: 5,553,659 (GRCm39) S41T possibly damaging Het
Onecut2 T A 18: 64,474,633 (GRCm39) W395R probably damaging Het
Or10a2 T A 7: 106,673,062 (GRCm39) I9K probably benign Het
Pak6 T A 2: 118,524,003 (GRCm39) V386E probably damaging Het
Pias2 A G 18: 77,220,931 (GRCm39) S396G probably benign Het
Plxna2 T A 1: 194,394,568 (GRCm39) L483H probably damaging Het
Prss36 G T 7: 127,534,763 (GRCm39) R484S probably benign Het
Ptpn21 A T 12: 98,654,996 (GRCm39) V657E probably benign Het
Rassf2 T C 2: 131,838,332 (GRCm39) E318G probably damaging Het
Rp1 A C 1: 4,298,824 (GRCm39) S623A unknown Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn11a T A 9: 119,588,982 (GRCm39) E1308V probably damaging Het
Serpina3c A T 12: 104,115,771 (GRCm39) S258T possibly damaging Het
Slit3 A G 11: 35,501,516 (GRCm39) T417A possibly damaging Het
Sostdc1 C A 12: 36,367,310 (GRCm39) A162E possibly damaging Het
Sox13 A T 1: 133,312,129 (GRCm39) probably null Het
Sox8 G T 17: 25,786,514 (GRCm39) S396R probably benign Het
Sult2a3 A T 7: 13,816,685 (GRCm39) F164L possibly damaging Het
Susd2 T C 10: 75,475,685 (GRCm39) Y438C probably damaging Het
Tas2r106 T G 6: 131,655,810 (GRCm39) T14P probably damaging Het
Tcf25 T A 8: 124,127,800 (GRCm39) probably null Het
Tenm3 G A 8: 48,688,970 (GRCm39) R2206W probably damaging Het
Tep1 A G 14: 51,081,789 (GRCm39) L471P unknown Het
Ticrr A T 7: 79,343,490 (GRCm39) K1118N probably damaging Het
Tlr5 G A 1: 182,801,064 (GRCm39) E123K probably benign Het
Ttn ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG 2: 76,746,150 (GRCm39) probably benign Het
U2surp A G 9: 95,375,770 (GRCm39) V141A probably benign Het
Unc79 T A 12: 103,100,734 (GRCm39) S2050T possibly damaging Het
Usp13 A G 3: 32,920,020 (GRCm39) D235G probably benign Het
Vcam1 T C 3: 115,919,628 (GRCm39) T213A possibly damaging Het
Vmn2r60 T A 7: 41,786,166 (GRCm39) I323N possibly damaging Het
Vps13b A G 15: 35,877,703 (GRCm39) I2892M probably damaging Het
Wnt5a T A 14: 28,240,329 (GRCm39) S160T probably benign Het
Zar1 G A 5: 72,738,294 (GRCm39) P36L possibly damaging Het
Zfp773 A T 7: 7,135,984 (GRCm39) M204K probably benign Het
Zhx1 T C 15: 57,916,465 (GRCm39) T594A probably benign Het
Other mutations in Dpysl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02177:Dpysl5 APN 5 30,902,622 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATCTCTCTGTCACGACGTGC -3'
(R):5'- TCTGAGGTATCCTGGTCAATTGATG -3'

Sequencing Primer
(F):5'- GTGCTATAAGAAGCTCTTGTTCCAC -3'
(R):5'- CAATATGGGCCTTGACCT -3'
Posted On 2019-06-26