Incidental Mutation 'R7852:Dpysl2'
ID 607020
Institutional Source Beutler Lab
Gene Symbol Dpysl2
Ensembl Gene ENSMUSG00000022048
Gene Name dihydropyrimidinase-like 2
Synonyms DRP2, Crmp2, TOAD-64, Ulip2
MMRRC Submission 045905-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.480) question?
Stock # R7852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 67040313-67106137 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67100092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 48 (N48S)
Ref Sequence ENSEMBL: ENSMUSP00000022629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022629]
AlphaFold O08553
Predicted Effect probably benign
Transcript: ENSMUST00000022629
AA Change: N48S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022629
Gene: ENSMUSG00000022048
AA Change: N48S

DomainStartEndE-ValueType
Pfam:Amidohydro_1 64 453 4.3e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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 collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal dendritic patterning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGT GTGTTTGT 11: 43,478,253 (GRCm39) probably null Het
Aco1 A G 4: 40,180,263 (GRCm39) D388G probably benign Het
Adgrl1 T G 8: 84,662,187 (GRCm39) L1016R probably damaging Het
Agmo C T 12: 37,292,051 (GRCm39) P4L possibly damaging Het
Agrn A T 4: 156,253,514 (GRCm39) H1792Q probably benign Het
Arhgef40 C T 14: 52,229,254 (GRCm39) L615F unknown Het
Atp6v1b1 A T 6: 83,729,452 (GRCm39) M121L possibly damaging Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cep152 A T 2: 125,432,033 (GRCm39) N622K possibly damaging Het
Cfhr1 A C 1: 139,484,165 (GRCm39) V117G probably damaging Het
Dnajb1 T A 8: 84,336,834 (GRCm39) D201E probably benign Het
Dsc2 A G 18: 20,179,342 (GRCm39) I242T possibly damaging Het
Eif1ad10 A C 12: 88,216,588 (GRCm39) Y95D probably damaging Het
Eif1ad3 G A 12: 87,843,742 (GRCm39) V130M unknown Het
Fam193a C A 5: 34,568,161 (GRCm39) D153E probably benign Het
Flnc G T 6: 29,440,897 (GRCm39) D332Y probably damaging Het
Fstl5 A G 3: 76,615,275 (GRCm39) I779V probably benign Het
Gm29394 T C 15: 57,912,172 (GRCm39) I11V unknown Het
Gm36864 ATCAGAAGTTTC ATC 7: 43,886,361 (GRCm39) probably benign Het
Gnpnat1 G A 14: 45,622,110 (GRCm39) P28S probably damaging Het
Grk5 T C 19: 61,069,383 (GRCm39) probably null Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Igdcc4 G A 9: 65,027,540 (GRCm39) V201I probably benign Het
Khdc4 T A 3: 88,604,043 (GRCm39) S287T probably benign Het
Kif12 G C 4: 63,086,226 (GRCm39) P374A probably benign Het
Krt16 A T 11: 100,137,592 (GRCm39) I371N probably damaging Het
Lrfn2 G A 17: 49,376,972 (GRCm39) V18I possibly damaging Het
Masp2 G A 4: 148,687,189 (GRCm39) E24K probably benign Het
Mdga2 T C 12: 66,517,724 (GRCm39) N37D possibly damaging Het
Med12l T A 3: 59,155,332 (GRCm39) F1171I probably damaging Het
Med22 A T 2: 26,800,376 (GRCm39) Y18N probably damaging Het
Mfsd4b1 T C 10: 39,879,411 (GRCm39) N162S probably benign Het
Micu2 A T 14: 58,169,710 (GRCm39) N213K probably benign Het
Mpc1 C T 17: 8,515,740 (GRCm39) T86I probably damaging Het
Mto1 G T 9: 78,356,820 (GRCm39) V112L possibly damaging Het
Napepld C T 5: 21,888,171 (GRCm39) V93I probably benign Het
Nkx2-2 A T 2: 147,026,189 (GRCm39) M183K probably damaging Het
Nlrp10 A G 7: 108,524,281 (GRCm39) S400P probably damaging Het
Nynrin T C 14: 56,108,886 (GRCm39) L1331P probably damaging Het
Ofcc1 T A 13: 40,333,915 (GRCm39) D392V probably damaging Het
Or10q12 A G 19: 13,745,874 (GRCm39) H56R probably benign Het
Or11a4 T C 17: 37,536,163 (GRCm39) V49A probably benign Het
Or2ag16 A T 7: 106,351,845 (GRCm39) M250K probably damaging Het
Or6c38 T A 10: 128,929,385 (GRCm39) I153F probably benign Het
Patl2 C T 2: 122,009,590 (GRCm39) probably benign Het
Pde8b T G 13: 95,244,205 (GRCm39) D78A probably damaging Het
Pgls T A 8: 72,047,847 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,693 (GRCm39) S355P probably benign Het
Pole G A 5: 110,454,695 (GRCm39) R976Q probably damaging Het
Ppip5k2 A G 1: 97,668,896 (GRCm39) L511S probably damaging Het
Prcp A T 7: 92,577,900 (GRCm39) N390Y probably benign Het
Rpgrip1 T A 14: 52,383,337 (GRCm39) N752K probably benign Het
Rsl1d1 A G 16: 11,021,098 (GRCm39) S8P probably benign Het
S100a1 C A 3: 90,419,392 (GRCm39) A18S probably benign Het
Slc25a13 A G 6: 6,152,461 (GRCm39) F92S probably damaging Het
Slc35f3 T C 8: 127,121,219 (GRCm39) I360T probably damaging Het
Slc35f6 T C 5: 30,814,159 (GRCm39) Y202H possibly damaging Het
Sox6 A T 7: 115,400,839 (GRCm39) M1K probably null Het
Stx8 G A 11: 67,860,611 (GRCm39) D11N probably damaging Het
Vmn2r130 A G 17: 23,282,788 (GRCm39) N156S probably benign Het
Vmn2r52 T C 7: 9,892,895 (GRCm39) Y748C probably damaging Het
Vmn2r78 T A 7: 86,569,378 (GRCm39) Y90* probably null Het
Zc3h4 A G 7: 16,156,392 (GRCm39) S303G unknown Het
Other mutations in Dpysl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Dpysl2 APN 14 67,071,681 (GRCm39) missense probably damaging 1.00
IGL01451:Dpysl2 APN 14 67,045,367 (GRCm39) missense possibly damaging 0.64
IGL02080:Dpysl2 APN 14 67,067,394 (GRCm39) missense probably benign 0.01
IGL02313:Dpysl2 APN 14 67,061,839 (GRCm39) missense probably benign 0.01
IGL02530:Dpysl2 APN 14 67,061,847 (GRCm39) missense probably damaging 1.00
IGL03082:Dpysl2 APN 14 67,045,459 (GRCm39) missense probably damaging 1.00
IGL03357:Dpysl2 APN 14 67,050,736 (GRCm39) missense probably damaging 0.97
R0491:Dpysl2 UTSW 14 67,045,411 (GRCm39) missense probably damaging 1.00
R0564:Dpysl2 UTSW 14 67,042,895 (GRCm39) splice site probably benign
R1121:Dpysl2 UTSW 14 67,100,001 (GRCm39) missense probably benign 0.13
R1190:Dpysl2 UTSW 14 67,061,850 (GRCm39) missense probably benign 0.17
R1595:Dpysl2 UTSW 14 67,052,952 (GRCm39) missense probably damaging 1.00
R1786:Dpysl2 UTSW 14 67,100,114 (GRCm39) splice site probably benign
R1830:Dpysl2 UTSW 14 67,105,840 (GRCm39) unclassified probably benign
R2076:Dpysl2 UTSW 14 67,102,571 (GRCm39) missense probably damaging 1.00
R3615:Dpysl2 UTSW 14 67,071,819 (GRCm39) missense probably damaging 1.00
R3616:Dpysl2 UTSW 14 67,071,819 (GRCm39) missense probably damaging 1.00
R3928:Dpysl2 UTSW 14 67,061,880 (GRCm39) missense possibly damaging 0.71
R4209:Dpysl2 UTSW 14 67,052,926 (GRCm39) missense probably damaging 0.98
R4211:Dpysl2 UTSW 14 67,052,926 (GRCm39) missense probably damaging 0.98
R4793:Dpysl2 UTSW 14 67,052,498 (GRCm39) missense possibly damaging 0.93
R4859:Dpysl2 UTSW 14 67,066,888 (GRCm39) missense probably damaging 1.00
R5640:Dpysl2 UTSW 14 67,071,817 (GRCm39) missense probably benign 0.43
R5708:Dpysl2 UTSW 14 67,050,595 (GRCm39) missense probably benign 0.07
R5808:Dpysl2 UTSW 14 67,102,621 (GRCm39) critical splice acceptor site probably null
R7045:Dpysl2 UTSW 14 67,067,395 (GRCm39) missense probably benign 0.06
R7140:Dpysl2 UTSW 14 67,099,982 (GRCm39) missense probably benign 0.00
R7211:Dpysl2 UTSW 14 67,067,425 (GRCm39) missense probably damaging 0.99
R7316:Dpysl2 UTSW 14 67,100,044 (GRCm39) missense possibly damaging 0.94
R7361:Dpysl2 UTSW 14 67,071,664 (GRCm39) missense possibly damaging 0.95
R7772:Dpysl2 UTSW 14 67,066,425 (GRCm39) splice site probably null
R8488:Dpysl2 UTSW 14 67,066,850 (GRCm39) missense possibly damaging 0.84
R8987:Dpysl2 UTSW 14 67,045,402 (GRCm39) missense probably damaging 1.00
R9729:Dpysl2 UTSW 14 67,099,927 (GRCm39) missense probably benign 0.01
R9771:Dpysl2 UTSW 14 67,066,833 (GRCm39) missense probably damaging 1.00
Z1177:Dpysl2 UTSW 14 67,099,939 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAAAACTGATGGCGCCCAAG -3'
(R):5'- CATTCTGCATGAAGGTGAGAATGAG -3'

Sequencing Primer
(F):5'- CCCAAGTCTTACTGATCATGGTGG -3'
(R):5'- TGCATGAAGGTGAGAATGAGGATGAG -3'
Posted On 2019-12-20