Incidental Mutation 'R4987:Dpysl3'
ID 385932
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 042581-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.581) question?
Stock # R4987 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 43454049-43571351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43461492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 566 (M566I)
Ref Sequence ENSEMBL: ENSMUSP00000112928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025379] [ENSMUST00000118043] [ENSMUST00000121805] [ENSMUST00000124207]
AlphaFold Q62188
Predicted Effect probably benign
Transcript: ENSMUST00000025379
AA Change: M453I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025379
Gene: ENSMUSG00000024501
AA Change: M453I

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 benign
Transcript: ENSMUST00000118043
AA Change: M451I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113711
Gene: ENSMUSG00000024501
AA Change: M451I

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: ENSMUST00000121805
AA Change: M566I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112928
Gene: ENSMUSG00000024501
AA Change: M566I

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 benign
Transcript: ENSMUST00000124207
SMART Domains Protein: ENSMUSP00000114981
Gene: ENSMUSG00000024501

DomainStartEndE-ValueType
Pfam:Amidohydro_1 6 202 1e-23 PFAM
Pfam:Amidohydro_4 16 199 1.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135547
Meta Mutation Damage Score 0.0958 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.3%
Validation Efficiency 98% (44/45)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,030,725 (GRCm39) S249P probably benign Het
Adcy4 A G 14: 56,010,934 (GRCm39) V661A probably benign Het
Ahdc1 T G 4: 132,791,631 (GRCm39) H957Q possibly damaging Het
Atp10b A G 11: 43,042,440 (GRCm39) probably benign Het
B3gnt5 A T 16: 19,587,952 (GRCm39) N57I probably damaging Het
Brms1l T A 12: 55,912,800 (GRCm39) D264E probably benign Het
Camk1g T A 1: 193,030,783 (GRCm39) N309Y probably damaging Het
Chl1 A G 6: 103,651,938 (GRCm39) T285A probably damaging Het
Cspg4b T C 13: 113,454,635 (GRCm39) V227A probably benign Het
Dennd1c G T 17: 57,380,852 (GRCm39) T200K probably damaging Het
Dscam A T 16: 96,498,721 (GRCm39) D985E probably benign Het
Fmo5 T C 3: 97,542,894 (GRCm39) M68T probably benign Het
Gm26996 A G 6: 130,567,959 (GRCm39) unknown Het
Gm9991 A T 1: 90,603,138 (GRCm39) noncoding transcript Het
Gzmc T A 14: 56,468,997 (GRCm39) I241L probably damaging Het
Hibadh A T 6: 52,599,880 (GRCm39) S105R probably damaging Het
Krt87 A G 15: 101,384,890 (GRCm39) I402T probably benign Het
Krtap31-2 A G 11: 99,827,396 (GRCm39) D76G possibly damaging Het
Lin9 A G 1: 180,496,329 (GRCm39) S249G probably damaging Het
Lpcat1 T A 13: 73,637,222 (GRCm39) probably null Het
Mfap4 A G 11: 61,376,908 (GRCm39) I46V probably benign Het
Nos1 T C 5: 118,064,598 (GRCm39) probably null Het
Nostrin A G 2: 68,986,775 (GRCm39) M107V probably benign Het
Nutm2 C T 13: 50,626,379 (GRCm39) T322I possibly damaging Het
Or8k33 A C 2: 86,383,579 (GRCm39) D296E probably null Het
Pcdha12 T A 18: 37,154,604 (GRCm39) V441E probably damaging Het
Plcd4 A G 1: 74,587,118 (GRCm39) probably benign Het
Plscr1l1 T C 9: 92,236,637 (GRCm39) S175P probably damaging Het
Ppme1 T C 7: 99,994,278 (GRCm39) D145G probably benign Het
Rbm25 T C 12: 83,724,630 (GRCm39) V793A probably damaging Het
Rlbp1 A T 7: 79,029,879 (GRCm39) V118E probably damaging Het
Serinc2 C T 4: 130,156,820 (GRCm39) probably null Het
Slc25a32 A G 15: 38,963,414 (GRCm39) C136R possibly damaging Het
Smco2 A G 6: 146,757,590 (GRCm39) D48G possibly damaging Het
Trpv4 T C 5: 114,760,793 (GRCm39) D846G probably benign Het
Ubr1 A T 2: 120,794,047 (GRCm39) L46I probably benign Het
Wdsub1 A G 2: 59,700,737 (GRCm39) probably benign Het
Zp3 T A 5: 136,016,359 (GRCm39) C320* probably null 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
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
R7196:Dpysl3 UTSW 18 43,462,910 (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'- AAACTGTTGCTATGGTTTTGCC -3'
(R):5'- ACTCTGTTCCTGGTAGCACC -3'

Sequencing Primer
(F):5'- TCTGAGGAAGCCTGGTCC -3'
(R):5'- GTAGCACCAAAGGAGGATCTG -3'
Posted On 2016-05-10