Incidental Mutation 'R0004:Cnp'
ID 15526
Institutional Source Beutler Lab
Gene Symbol Cnp
Ensembl Gene ENSMUSG00000006782
Gene Name 2',3'-cyclic nucleotide 3' phosphodiesterase
Synonyms Cnp1, CNPase, Cnp-1
MMRRC Submission 038300-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0004 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 100465765-100472565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100467633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 192 (F192S)
Ref Sequence ENSEMBL: ENSMUSP00000099409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006976] [ENSMUST00000092684] [ENSMUST00000103120]
AlphaFold P16330
PDB Structure Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, complexed with citrate [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, complexed with citrate [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, complexed with sulfate [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, soaked with 2',3'-cyclic NADP [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, soaked with GTP [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, soaked with 2',3'-cyclic AMP [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, crystallized with 2'-AMPS [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, crystallized with 2'-AMPS [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, with mutation H309S, crystallized with 2',3-(SP)-Cyclic-AMPS [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, with mutation H309S, crystallized with 2',3'- cyclic AMP [X-RAY DIFFRACTION]
>> 5 additional structures at PDB <<
Predicted Effect probably benign
Transcript: ENSMUST00000006976
SMART Domains Protein: ENSMUSP00000006976
Gene: ENSMUSG00000006784

DomainStartEndE-ValueType
TPR 11 44 3.69e1 SMART
TPR 45 78 3.07e1 SMART
TPR 79 112 4.96e0 SMART
low complexity region 147 158 N/A INTRINSIC
low complexity region 191 208 N/A INTRINSIC
TPR 318 351 4.96e0 SMART
TPR 358 391 1.11e1 SMART
Blast:TPR 395 428 7e-14 BLAST
TPR 435 468 2.99e1 SMART
low complexity region 493 505 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092684
SMART Domains Protein: ENSMUSP00000090355
Gene: ENSMUSG00000006784

DomainStartEndE-ValueType
TPR 11 44 3.69e1 SMART
TPR 45 78 3.07e1 SMART
TPR 79 112 4.96e0 SMART
low complexity region 147 158 N/A INTRINSIC
low complexity region 191 208 N/A INTRINSIC
TPR 318 351 4.96e0 SMART
TPR 358 391 1.11e1 SMART
Blast:TPR 395 428 5e-14 BLAST
TPR 435 468 2.99e1 SMART
coiled coil region 528 548 N/A INTRINSIC
low complexity region 556 567 N/A INTRINSIC
coiled coil region 599 624 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103120
AA Change: F192S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099409
Gene: ENSMUSG00000006782
AA Change: F192S

DomainStartEndE-ValueType
Pfam:AAA_33 52 175 8.9e-10 PFAM
Pfam:CNPase 185 419 7.1e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150414
Meta Mutation Damage Score 0.9567 question?
Coding Region Coverage
  • 1x: 72.9%
  • 3x: 51.7%
  • 10x: 14.4%
  • 20x: 3.8%
Validation Efficiency 93% (26/28)
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene results in ataxia, gait abnormalities, hindlimb paralysis, muscle weakness, convulsive seizures, weight loss, kyphosis, reactive gliosis, axonal swellings and degeneration, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T C 1: 38,308,807 (GRCm39) D376G possibly damaging Het
Akap12 A T 10: 4,303,218 (GRCm39) E9D possibly damaging Het
Chia1 G T 3: 106,036,325 (GRCm39) A302S probably damaging Het
Garre1 A T 7: 33,955,853 (GRCm39) F412Y probably damaging Het
Hbegf A G 18: 36,640,559 (GRCm39) V166A probably damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Pcdhb10 T A 18: 37,545,012 (GRCm39) D29E probably benign Het
Washc5 A G 15: 59,239,316 (GRCm39) M149T probably damaging Het
Other mutations in Cnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02971:Cnp APN 11 100,467,525 (GRCm39) missense probably benign 0.25
R0004:Cnp UTSW 11 100,467,633 (GRCm39) missense probably damaging 1.00
R0015:Cnp UTSW 11 100,469,734 (GRCm39) splice site probably null
R0015:Cnp UTSW 11 100,469,734 (GRCm39) splice site probably null
R0546:Cnp UTSW 11 100,471,549 (GRCm39) missense probably damaging 1.00
R2384:Cnp UTSW 11 100,467,279 (GRCm39) missense probably damaging 1.00
R4653:Cnp UTSW 11 100,467,342 (GRCm39) missense probably benign 0.19
R4654:Cnp UTSW 11 100,469,877 (GRCm39) missense possibly damaging 0.90
R4898:Cnp UTSW 11 100,467,202 (GRCm39) missense probably benign 0.11
R5559:Cnp UTSW 11 100,467,243 (GRCm39) missense probably damaging 1.00
R7045:Cnp UTSW 11 100,471,184 (GRCm39) missense probably benign 0.00
R7225:Cnp UTSW 11 100,471,413 (GRCm39) nonsense probably null
R7776:Cnp UTSW 11 100,469,814 (GRCm39) missense probably damaging 1.00
R8350:Cnp UTSW 11 100,467,267 (GRCm39) missense probably damaging 1.00
R8450:Cnp UTSW 11 100,467,267 (GRCm39) missense probably damaging 1.00
R9616:Cnp UTSW 11 100,467,261 (GRCm39) missense probably benign 0.04
R9784:Cnp UTSW 11 100,467,437 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-21