Incidental Mutation 'R7196:Dpysl3'
ID 559980
Institutional Source Beutler Lab
Gene Symbol Dpysl3
Ensembl Gene ENSMUSG00000024501
Gene Name dihydropyrimidinase-like 3
Synonyms CRMP4, Ulip, 9430041P20Rik, CRMP-4, TUC4, Ulip1
MMRRC Submission 045275-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.581) question?
Stock # R7196 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 43454049-43571351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43462910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 489 (D489V)
Ref Sequence ENSEMBL: ENSMUSP00000112928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025379] [ENSMUST00000118043] [ENSMUST00000118071] [ENSMUST00000121805] [ENSMUST00000124207]
AlphaFold Q62188
Predicted Effect probably damaging
Transcript: ENSMUST00000025379
AA Change: D376V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025379
Gene: ENSMUSG00000024501
AA Change: D376V

DomainStartEndE-ValueType
Pfam:Amidohydro_5 35 104 8e-13 PFAM
Pfam:Amidohydro_4 59 410 3.4e-14 PFAM
Pfam:Amidohydro_1 64 413 7.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118043
AA Change: D374V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113711
Gene: ENSMUSG00000024501
AA Change: D374V

DomainStartEndE-ValueType
Pfam:Amidohydro_5 33 102 2e-13 PFAM
Pfam:Amidohydro_4 57 408 8.8e-15 PFAM
Pfam:Amidohydro_1 62 411 2.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118071
SMART Domains Protein: ENSMUSP00000113604
Gene: ENSMUSG00000024501

DomainStartEndE-ValueType
PDB:4BKN|B 1 91 2e-58 PDB
SCOP:d1gkra2 1 96 3e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121805
AA Change: D489V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112928
Gene: ENSMUSG00000024501
AA Change: D489V

DomainStartEndE-ValueType
low complexity region 85 102 N/A INTRINSIC
Pfam:Amidohydro_1 177 566 1.4e-41 PFAM
Pfam:Amidohydro_3 481 566 1.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124207
AA Change: D165V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114981
Gene: ENSMUSG00000024501
AA Change: D165V

DomainStartEndE-ValueType
Pfam:Amidohydro_1 6 202 1e-23 PFAM
Pfam:Amidohydro_4 16 199 1.2e-8 PFAM
Meta Mutation Damage Score 0.9573 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (94/95)
MGI Phenotype FUNCTION: This gene encodes a protein that belongs to the TUC (TOAD-64/Ulip/CRMP) family of proteins. Members of this family are phosphoproteins that function in axonal guidance and neuronal differentiation during development and regeneration of the nervous system. A mutation in the human gene is associated with amyotrophic lateral sclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired axon extension, abnormal neuron growth cones morphology and impaired anterograde transportation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik AGCTTCCCTGCTT AGCTT 9: 57,165,505 (GRCm39) probably null Het
4921504E06Rik A C 2: 19,498,806 (GRCm39) S396A probably benign Het
Actr6 C A 10: 89,550,784 (GRCm39) V337F possibly damaging Het
Agtpbp1 T C 13: 59,680,994 (GRCm39) T73A possibly damaging Het
AI182371 A T 2: 34,976,441 (GRCm39) probably null Het
Apob A G 12: 8,033,893 (GRCm39) E202G possibly damaging Het
Asb4 A T 6: 5,423,356 (GRCm39) M168L probably benign Het
AU018091 T C 7: 3,213,788 (GRCm39) Y152C probably damaging Het
Casp3 G A 8: 47,088,498 (GRCm39) G132R possibly damaging Het
Cbfa2t3 C A 8: 123,365,729 (GRCm39) A229S probably benign Het
Cdh23 A T 10: 60,143,759 (GRCm39) Y2949N probably damaging Het
Ceacam3 T C 7: 16,888,881 (GRCm39) Y217H Het
Cldn5 A T 16: 18,595,630 (GRCm39) probably benign Het
Cltc T C 11: 86,597,657 (GRCm39) D1093G probably damaging Het
Cnn3 G A 3: 121,248,437 (GRCm39) probably null Het
Col4a2 A G 8: 11,448,693 (GRCm39) Y71C probably damaging Het
Csf1 T C 3: 107,661,214 (GRCm39) D77G possibly damaging Het
Cyp2j7 T A 4: 96,103,651 (GRCm39) T295S probably benign Het
Dnah7a A T 1: 53,724,000 (GRCm39) M133K probably benign Het
Dock5 G A 14: 67,993,919 (GRCm39) P1852L probably damaging Het
Dsg4 T C 18: 20,599,537 (GRCm39) Y718H probably damaging Het
Dync2h1 G A 9: 7,147,715 (GRCm39) Q972* probably null Het
Epn1 G A 7: 5,096,380 (GRCm39) D225N possibly damaging Het
Esp4 A G 17: 40,913,256 (GRCm39) E41G probably benign Het
Fam171a2 T C 11: 102,329,172 (GRCm39) D529G probably benign Het
Fbxl13 A T 5: 21,691,301 (GRCm39) I694N probably damaging Het
Fshr C T 17: 89,292,897 (GRCm39) A594T probably damaging Het
Galnt3 A G 2: 65,921,268 (GRCm39) Y533H probably damaging Het
Gja5 C A 3: 96,958,422 (GRCm39) R160S probably damaging Het
Gm12353 A T 4: 19,608,938 (GRCm39) D7V unknown Het
Gm17669 T C 18: 67,695,572 (GRCm39) F39S probably damaging Het
Gm7145 T A 1: 117,913,791 (GRCm39) N224K possibly damaging Het
Gpd1 G T 15: 99,619,936 (GRCm39) G245C probably benign Het
Gpr4 G A 7: 18,957,089 (GRCm39) G337D probably benign Het
Hgd G A 16: 37,409,078 (GRCm39) C14Y probably benign Het
Ibtk A T 9: 85,625,709 (GRCm39) S14T probably damaging Het
Ifi205 G T 1: 173,854,109 (GRCm39) N181K probably damaging Het
Inppl1 G A 7: 101,477,993 (GRCm39) A673V probably benign Het
Itgb3 C A 11: 104,524,438 (GRCm39) Y191* probably null Het
Jrkl G T 9: 13,244,162 (GRCm39) P500T probably benign Het
Kcnq1 G A 7: 142,912,478 (GRCm39) V515I possibly damaging Het
Kifc3 A G 8: 95,833,239 (GRCm39) V453A probably benign Het
Krt10 C T 11: 99,278,371 (GRCm39) E263K probably damaging Het
Lingo1 A T 9: 56,527,903 (GRCm39) F235I probably damaging Het
Lmo7 T A 14: 102,133,936 (GRCm39) D660E possibly damaging Het
Magi3 A C 3: 103,956,484 (GRCm39) C661W probably benign Het
Mmp1a C T 9: 7,476,018 (GRCm39) Q428* probably null Het
Msrb1 A T 17: 24,958,556 (GRCm39) T47S probably benign Het
Naip6 A T 13: 100,436,666 (GRCm39) I619K probably benign Het
Ndfip2 T C 14: 105,535,472 (GRCm39) S253P probably damaging Het
Nebl A T 2: 17,457,329 (GRCm39) V77E probably damaging Het
Nit1 T C 1: 171,172,003 (GRCm39) E65G probably benign Het
Ntn4 C T 10: 93,569,576 (GRCm39) H430Y probably benign Het
Nxpe5 A T 5: 138,237,586 (GRCm39) I49F probably benign Het
Or10a2 A G 7: 106,673,935 (GRCm39) N300S probably benign Het
Or10c1 A G 17: 37,522,084 (GRCm39) I220T probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Or1e23 A G 11: 73,407,957 (GRCm39) Y23H probably benign Het
Or1m1 A T 9: 18,666,886 (GRCm39) L15* probably null Het
Or4k49 T G 2: 111,495,042 (GRCm39) L157W probably damaging Het
Or52s6 A T 7: 103,092,204 (GRCm39) M42K probably benign Het
Or7e178 A G 9: 20,225,494 (GRCm39) Y241H probably benign Het
Oxct2a T A 4: 123,217,165 (GRCm39) N72I probably damaging Het
Pappa G A 4: 65,242,128 (GRCm39) probably null Het
Pcnx1 G A 12: 82,042,312 (GRCm39) R34H possibly damaging Het
Plekha5 G T 6: 140,489,648 (GRCm39) V236L possibly damaging Het
Prdm1 A G 10: 44,332,988 (GRCm39) S44P probably benign Het
Prss46 T A 9: 110,680,533 (GRCm39) L226Q probably benign Het
Prss47 C A 13: 65,192,640 (GRCm39) W380C probably benign Het
Ptch2 T G 4: 116,971,946 (GRCm39) V1156G probably benign Het
Rab3gap2 T C 1: 185,013,864 (GRCm39) F1190S probably damaging Het
Raver2 T G 4: 100,960,056 (GRCm39) Y179D probably damaging Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Ripor2 T G 13: 24,888,808 (GRCm39) I629S possibly damaging Het
Robo4 T A 9: 37,314,001 (GRCm39) M84K possibly damaging Het
Rps6ka5 A T 12: 100,562,123 (GRCm39) S252T possibly damaging Het
Rtl1 C T 12: 109,559,221 (GRCm39) V873M possibly damaging Het
Sla T A 15: 66,703,420 (GRCm39) R4W probably benign Het
Smco1 A G 16: 32,092,620 (GRCm39) D97G probably damaging Het
Srgap1 T C 10: 121,676,753 (GRCm39) T414A probably benign Het
Syt14 A G 1: 192,717,936 (GRCm39) I3T probably benign Het
Tnpo2 G A 8: 85,773,766 (GRCm39) V303M possibly damaging Het
Tstd2 A C 4: 46,119,955 (GRCm39) S332R probably damaging Het
Ttn C A 2: 76,582,386 (GRCm39) A22836S possibly damaging Het
Ufl1 A G 4: 25,250,669 (GRCm39) V728A probably benign Het
Usp33 A T 3: 152,089,828 (GRCm39) K789N possibly damaging Het
Usp54 T A 14: 20,638,438 (GRCm39) Q214L probably damaging Het
Vmn2r7 T G 3: 64,623,198 (GRCm39) N374T probably benign Het
Zbtb7a T A 10: 80,980,434 (GRCm39) N209K probably damaging Het
Zc3hav1 A G 6: 38,306,207 (GRCm39) V615A probably benign Het
Zdhhc20 A G 14: 58,111,348 (GRCm39) probably null Het
Zfp90 G T 8: 107,151,780 (GRCm39) V498L probably damaging Het
Other mutations in Dpysl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02151:Dpysl3 APN 18 43,491,365 (GRCm39) missense probably damaging 1.00
IGL02533:Dpysl3 APN 18 43,458,859 (GRCm39) missense probably benign 0.00
IGL02632:Dpysl3 APN 18 43,526,090 (GRCm39) missense possibly damaging 0.50
IGL03111:Dpysl3 APN 18 43,462,910 (GRCm39) missense probably damaging 1.00
IGL03138:Dpysl3 UTSW 18 43,458,859 (GRCm39) missense probably benign 0.00
R0001:Dpysl3 UTSW 18 43,491,440 (GRCm39) missense possibly damaging 0.93
R0062:Dpysl3 UTSW 18 43,466,941 (GRCm39) splice site probably null
R0062:Dpysl3 UTSW 18 43,466,941 (GRCm39) splice site probably null
R0656:Dpysl3 UTSW 18 43,571,136 (GRCm39) missense possibly damaging 0.65
R1522:Dpysl3 UTSW 18 43,496,622 (GRCm39) missense probably damaging 1.00
R1694:Dpysl3 UTSW 18 43,461,439 (GRCm39) missense possibly damaging 0.94
R1764:Dpysl3 UTSW 18 43,496,583 (GRCm39) missense probably damaging 1.00
R1822:Dpysl3 UTSW 18 43,475,393 (GRCm39) missense probably benign 0.07
R1880:Dpysl3 UTSW 18 43,462,939 (GRCm39) splice site probably null
R1907:Dpysl3 UTSW 18 43,571,193 (GRCm39) missense probably damaging 1.00
R1925:Dpysl3 UTSW 18 43,465,996 (GRCm39) missense probably damaging 1.00
R2248:Dpysl3 UTSW 18 43,491,358 (GRCm39) missense possibly damaging 0.56
R3434:Dpysl3 UTSW 18 43,494,126 (GRCm39) missense probably benign 0.01
R4575:Dpysl3 UTSW 18 43,475,312 (GRCm39) missense probably damaging 1.00
R4778:Dpysl3 UTSW 18 43,487,867 (GRCm39) missense probably benign 0.06
R4780:Dpysl3 UTSW 18 43,487,867 (GRCm39) missense probably benign 0.06
R4858:Dpysl3 UTSW 18 43,467,079 (GRCm39) missense probably damaging 0.96
R4987:Dpysl3 UTSW 18 43,461,492 (GRCm39) missense probably benign 0.00
R5151:Dpysl3 UTSW 18 43,571,145 (GRCm39) missense probably benign 0.00
R5152:Dpysl3 UTSW 18 43,571,145 (GRCm39) missense probably benign 0.00
R5229:Dpysl3 UTSW 18 43,466,016 (GRCm39) missense probably damaging 1.00
R5373:Dpysl3 UTSW 18 43,494,101 (GRCm39) missense probably damaging 1.00
R5374:Dpysl3 UTSW 18 43,494,101 (GRCm39) missense probably damaging 1.00
R5383:Dpysl3 UTSW 18 43,571,103 (GRCm39) missense probably damaging 1.00
R6014:Dpysl3 UTSW 18 43,494,132 (GRCm39) missense probably damaging 1.00
R6837:Dpysl3 UTSW 18 43,570,947 (GRCm39) missense probably benign 0.01
R6958:Dpysl3 UTSW 18 43,571,067 (GRCm39) missense probably benign
R6991:Dpysl3 UTSW 18 43,486,956 (GRCm39) missense probably damaging 1.00
R7087:Dpysl3 UTSW 18 43,496,595 (GRCm39) missense probably damaging 1.00
R7223:Dpysl3 UTSW 18 43,571,107 (GRCm39) missense probably benign 0.20
R8731:Dpysl3 UTSW 18 43,571,157 (GRCm39) missense probably damaging 1.00
R9051:Dpysl3 UTSW 18 43,462,814 (GRCm39) missense probably damaging 1.00
R9240:Dpysl3 UTSW 18 43,487,867 (GRCm39) missense probably benign 0.06
R9682:Dpysl3 UTSW 18 43,491,313 (GRCm39) missense probably damaging 1.00
R9695:Dpysl3 UTSW 18 43,571,192 (GRCm39) missense probably damaging 0.96
R9786:Dpysl3 UTSW 18 43,462,922 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGTCCACCCTATAAGCAGC -3'
(R):5'- TGTGAAGTTCATACTGCCCAG -3'

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