Incidental Mutation 'R8450:Cnp'
ID 654723
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 067830-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8450 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100465765-100472565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100467267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 70 (I70T)
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: I70T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099409
Gene: ENSMUSG00000006782
AA Change: I70T

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,561,188 (GRCm39) T158M probably benign Het
Adgrv1 T A 13: 81,583,962 (GRCm39) probably null Het
Arhgef2 G A 3: 88,553,527 (GRCm39) R886H probably damaging Het
Armc12 T A 17: 28,751,031 (GRCm39) D82E probably damaging Het
Atg2a T C 19: 6,296,841 (GRCm39) S382P probably benign Het
Bola1 G A 3: 96,104,573 (GRCm39) A7V probably benign Het
Cep170 A G 1: 176,564,445 (GRCm39) L271S Het
Cers3 T C 7: 66,414,090 (GRCm39) F92S possibly damaging Het
Chmp4c A T 3: 10,450,746 (GRCm39) M109L possibly damaging Het
Cnmd T A 14: 79,882,821 (GRCm39) K202* probably null Het
Col27a1 C A 4: 63,248,134 (GRCm39) T1721K unknown Het
Crtac1 G A 19: 42,297,625 (GRCm39) R242W probably damaging Het
Cry2 T C 2: 92,244,286 (GRCm39) R296G probably benign Het
Cyp2t4 A G 7: 26,856,806 (GRCm39) D282G possibly damaging Het
Dip2a G T 10: 76,100,690 (GRCm39) T1495N probably damaging Het
Dmbt1 T C 7: 130,687,147 (GRCm39) probably null Het
Dmp1 A T 5: 104,360,765 (GRCm39) K480N probably damaging Het
Dnah17 A G 11: 117,977,873 (GRCm39) S1820P probably damaging Het
Dnah6 A G 6: 73,172,798 (GRCm39) V220A probably benign Het
Eif4a3l1 C T 6: 136,306,241 (GRCm39) T234I possibly damaging Het
Epha3 T C 16: 63,472,853 (GRCm39) D344G possibly damaging Het
Esyt2 C A 12: 116,327,102 (GRCm39) Q557K probably damaging Het
Fam72a A T 1: 131,461,663 (GRCm39) D116V probably damaging Het
Fam81a T C 9: 70,032,300 (GRCm39) N64S probably damaging Het
Fat3 T A 9: 15,826,435 (GRCm39) T358S Het
Frat2 A T 19: 41,836,223 (GRCm39) I43N probably damaging Het
Fryl A T 5: 73,226,073 (GRCm39) D1863E probably benign Het
Gm29735 ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA 7: 141,710,266 (GRCm39) probably benign Het
Gm43302 A T 5: 105,422,573 (GRCm39) probably null Het
Grid2ip A G 5: 143,363,273 (GRCm39) Y422C probably damaging Het
Hap1 T G 11: 100,240,107 (GRCm39) D563A probably damaging Het
Hbb-bs T C 7: 103,475,951 (GRCm39) D122G probably benign Het
Hs3st3b1 G C 11: 63,780,390 (GRCm39) P246A probably benign Het
Hsd17b4 T G 18: 50,297,734 (GRCm39) L341R probably benign Het
Kbtbd11 G A 8: 15,078,603 (GRCm39) V401M probably damaging Het
Lss T A 10: 76,371,429 (GRCm39) L120Q probably damaging Het
Mdc1 T G 17: 36,159,191 (GRCm39) S524A probably benign Het
Myoz3 T C 18: 60,712,074 (GRCm39) Y168C probably damaging Het
Nceh1 C A 3: 27,293,813 (GRCm39) D190E probably damaging Het
Neb T C 2: 52,096,194 (GRCm39) R5039G probably benign Het
Nup50 T A 15: 84,819,476 (GRCm39) V250E probably benign Het
Pcnx3 T A 19: 5,723,254 (GRCm39) N1314Y probably damaging Het
Pdzk1 A G 3: 96,759,024 (GRCm39) N143S probably benign Het
Rnf223 T G 4: 156,217,120 (GRCm39) L165R probably damaging Het
Sbf1 A T 15: 89,183,712 (GRCm39) F1267Y probably damaging Het
Scrn3 T G 2: 73,160,113 (GRCm39) I252R possibly damaging Het
Sdr39u1 T C 14: 56,135,363 (GRCm39) I193M probably damaging Het
Sh2d7 A G 9: 54,448,191 (GRCm39) R71G probably benign Het
Slc12a9 C A 5: 137,313,737 (GRCm39) V741L probably benign Het
Syk T C 13: 52,774,935 (GRCm39) L225P probably damaging Het
Tbx1 A T 16: 18,400,795 (GRCm39) V463E unknown Het
Tmem67 C T 4: 12,087,891 (GRCm39) R19H probably benign Het
Ttn T A 2: 76,609,108 (GRCm39) I17666F possibly damaging Het
Vcpip1 A G 1: 9,794,831 (GRCm39) V1180A probably benign Het
Vps13a C T 19: 16,631,871 (GRCm39) probably null Het
Wdr27 T C 17: 15,152,787 (GRCm39) T107A probably benign Het
Zfp106 T C 2: 120,366,099 (GRCm39) R58G 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
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
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'- TGCCCAAGCTCTTCTTCAGG -3'
(R):5'- TTGAGCTGGGCACAGTCTAG -3'

Sequencing Primer
(F):5'- CTTCAGGAAAATGTCATCCTCAGGAG -3'
(R):5'- CTGGTCTGCCATTTCAAAAAGCTG -3'
Posted On 2020-10-20