Incidental Mutation 'R7045:Cnp'
ID 547267
Institutional Source Beutler Lab
Gene Symbol Cnp
Ensembl Gene ENSMUSG00000006782
Gene Name 2',3'-cyclic nucleotide 3' phosphodiesterase
Synonyms Cnp1, CNPase, Cnp-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7045 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100465765-100472565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100471184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 275 (R275S)
Ref Sequence ENSEMBL: ENSMUSP00000099409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014339] [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: ENSMUST00000014339
SMART Domains Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195

DomainStartEndE-ValueType
TPR 28 61 3.39e-7 SMART
TPR 62 95 1.11e-2 SMART
TPR 96 129 4.09e-1 SMART
Blast:TPR 142 175 4e-13 BLAST
Blast:TPR 176 209 1e-13 BLAST
TPR 210 243 2.29e-4 SMART
TPR 256 289 1.11e-2 SMART
TPR 294 327 2.87e-5 SMART
TPR 328 361 1.83e-3 SMART
DnaJ 380 443 2.93e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103120
AA Change: R275S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099409
Gene: ENSMUSG00000006782
AA Change: R275S

DomainStartEndE-ValueType
Pfam:AAA_33 52 175 8.9e-10 PFAM
Pfam:CNPase 185 419 7.1e-118 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 A T 12: 112,628,735 (GRCm39) Y18* probably null Het
Ank2 C A 3: 126,806,393 (GRCm39) A583S probably damaging Het
Aoc1l3 T C 6: 48,965,546 (GRCm39) V518A possibly damaging Het
Atp8b4 T C 2: 126,214,115 (GRCm39) N706S probably benign Het
Bace2 A G 16: 97,200,865 (GRCm39) N111S probably damaging Het
Cs T A 10: 128,188,586 (GRCm39) M104K probably benign Het
Ctcfl G A 2: 172,954,167 (GRCm39) T310I probably damaging Het
Cyp2d40 T C 15: 82,645,763 (GRCm39) I81V probably benign Het
Ddx19a A G 8: 111,719,706 (GRCm39) V30A probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dock6 G A 9: 21,733,107 (GRCm39) A1062V probably damaging Het
Dpysl2 T C 14: 67,067,395 (GRCm39) D172G probably benign Het
Eml2 A G 7: 18,935,504 (GRCm39) D638G probably damaging Het
Epb41l4b C A 4: 57,103,522 (GRCm39) A105S possibly damaging Het
Fat4 A G 3: 38,942,750 (GRCm39) I548V probably benign Het
Gabrb2 G A 11: 42,484,758 (GRCm39) A272T probably damaging Het
Gask1a T C 9: 121,794,707 (GRCm39) L287P probably damaging Het
Hcn1 C T 13: 118,111,998 (GRCm39) P654L unknown Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hk1 C A 10: 62,122,349 (GRCm39) G477C probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kiss1r A G 10: 79,755,259 (GRCm39) probably null Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Loxl4 G T 19: 42,595,074 (GRCm39) N200K probably damaging Het
Lrba T C 3: 86,192,398 (GRCm39) V104A probably benign Het
Lyst T A 13: 13,812,293 (GRCm39) C902S probably damaging Het
Lyst T A 13: 13,809,485 (GRCm39) V385D probably benign Het
Mrpl28 T C 17: 26,345,261 (GRCm39) F227S probably benign Het
Mtmr3 A T 11: 4,448,896 (GRCm39) V289E possibly damaging Het
Ndst3 A G 3: 123,465,732 (GRCm39) V80A probably damaging Het
Nid2 C T 14: 19,829,749 (GRCm39) A680V possibly damaging Het
Nudcd1 T C 15: 44,269,226 (GRCm39) N145D probably benign Het
Nup210 A T 6: 91,031,433 (GRCm39) I812N probably damaging Het
Or2ak6 A T 11: 58,592,495 (GRCm39) probably benign Het
Or2g7 C T 17: 38,378,862 (GRCm39) H267Y probably benign Het
Or2y17 A T 11: 49,231,757 (GRCm39) T133S probably damaging Het
Or52n4b A G 7: 108,144,452 (GRCm39) K238R probably damaging Het
Or5b114-ps1 C A 19: 13,352,336 (GRCm39) N3K probably damaging Het
Or8c11 T A 9: 38,289,729 (GRCm39) M184K probably damaging Het
Or8k16 A G 2: 85,520,255 (GRCm39) S161G possibly damaging Het
Pcdhb6 A C 18: 37,469,329 (GRCm39) Q750P possibly damaging Het
Plppr4 T C 3: 117,153,683 (GRCm39) Y72C probably damaging Het
Rasgrf2 G T 13: 92,159,100 (GRCm39) probably benign Het
Sbk2 A G 7: 4,961,905 (GRCm39) I127T probably damaging Het
Smchd1 A C 17: 71,722,039 (GRCm39) S817A probably benign Het
Speer4b A T 5: 27,705,123 (GRCm39) N83K probably damaging Het
Strc A T 2: 121,201,207 (GRCm39) L1296Q probably damaging Het
Thap11 C A 8: 106,582,215 (GRCm39) R75S possibly damaging Het
Unc13a A C 8: 72,111,407 (GRCm39) L268R possibly damaging Het
Zfp39 A T 11: 58,781,269 (GRCm39) C498S unknown Het
Zfp507 T C 7: 35,494,978 (GRCm39) T22A possibly damaging Het
Zfp85 T C 13: 67,897,712 (GRCm39) Y120C probably benign Het
Zfp882 G A 8: 72,667,093 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTTAGCTTGAATGGCTTGTGC -3'
(R):5'- TTTGCCCAGGGAATAGAGCTTG -3'

Sequencing Primer
(F):5'- AGTTAGAAGCCAGCTTGGTCTAC -3'
(R):5'- TCAAGACCCGTCTGCACTG -3'
Posted On 2019-05-13