Incidental Mutation 'R8875:Cnpy3'
ID 676547
Institutional Source Beutler Lab
Gene Symbol Cnpy3
Ensembl Gene ENSMUSG00000023973
Gene Name canopy FGF signaling regulator 3
Synonyms ERDA5, 2410050O22Rik, Tnrc5, 1600025D17Rik, CAG4A
MMRRC Submission 068687-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8875 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 47046631-47063140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47048185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 177 (I177V)
Ref Sequence ENSEMBL: ENSMUSP00000050309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059844] [ENSMUST00000129200]
AlphaFold Q9DAU1
Predicted Effect probably damaging
Transcript: ENSMUST00000059844
AA Change: I177V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050309
Gene: ENSMUSG00000023973
AA Change: I177V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:DUF3456 48 206 5.5e-51 PFAM
low complexity region 222 242 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129200
SMART Domains Protein: ENSMUSP00000120790
Gene: ENSMUSG00000023973

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: This gene encodes a member of the canopy family of proteins. The encoded protein may play a role in the maturation of toll-like receptors. Homozygous knockout mice for this gene show reduced cell surface expression of toll-like receptors and an impaired immune response including reduced production of cytokines in a mouse model of sepsis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal growth retardation, postnatal lethality and defects in immune responses mediated by Toll-like receptors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik A G 11: 70,126,380 (GRCm39) V140A Het
Ablim1 G T 19: 57,119,386 (GRCm39) H233N probably benign Het
Adra1a A T 14: 66,875,214 (GRCm39) Y63F possibly damaging Het
Ank3 A G 10: 69,660,233 (GRCm39) D245G unknown Het
Ap4e1 T C 2: 126,877,100 (GRCm39) I279T probably damaging Het
Bap1 T G 14: 30,975,522 (GRCm39) F122C probably damaging Het
Cdc5l T C 17: 45,703,915 (GRCm39) probably benign Het
Chd2 A T 7: 73,151,783 (GRCm39) I309N probably damaging Het
Cp A G 3: 20,027,994 (GRCm39) K467E possibly damaging Het
D630039A03Rik T G 4: 57,910,320 (GRCm39) N164T probably benign Het
Dnah7a C A 1: 53,682,682 (GRCm39) A263S probably benign Het
Eif2s1 G A 12: 78,913,461 (GRCm39) R54Q probably damaging Het
Fasn A T 11: 120,703,224 (GRCm39) D1600E possibly damaging Het
Fat1 T A 8: 45,493,600 (GRCm39) F3915L probably damaging Het
Fiz1 A T 7: 5,012,093 (GRCm39) S142T probably benign Het
Fnip1 A G 11: 54,406,380 (GRCm39) Y1159C probably damaging Het
Fsip2 T A 2: 82,820,782 (GRCm39) V5505D possibly damaging Het
Gabrg3 A G 7: 56,379,514 (GRCm39) M296T probably damaging Het
Gm11562 A T 11: 99,511,177 (GRCm39) S8T unknown Het
Hoxd11 A G 2: 74,513,365 (GRCm39) D210G probably benign Het
Hsd17b2 T C 8: 118,469,101 (GRCm39) V171A possibly damaging Het
Ifi206 T C 1: 173,301,353 (GRCm39) Y775C unknown Het
Nherf2 T A 17: 24,866,703 (GRCm39) probably null Het
Nr2f1 A C 13: 78,337,970 (GRCm39) I382S probably damaging Het
Nrp1 T A 8: 129,207,472 (GRCm39) probably null Het
Or51l4 G A 7: 103,404,462 (GRCm39) S110F probably damaging Het
Or52h7 A G 7: 104,213,670 (GRCm39) T81A probably benign Het
Pdcd1 C T 1: 93,967,092 (GRCm39) D269N probably benign Het
Pira12 A G 7: 3,897,256 (GRCm39) S527P probably damaging Het
Plbd2 A G 5: 120,637,121 (GRCm39) Y114H probably damaging Het
Plch1 A G 3: 63,618,391 (GRCm39) C715R probably damaging Het
Plin4 G A 17: 56,411,010 (GRCm39) A1007V probably benign Het
Ptprs G T 17: 56,742,946 (GRCm39) P399T probably damaging Het
Pum1 T A 4: 130,507,186 (GRCm39) I1181N possibly damaging Het
Qrich1 A G 9: 108,436,502 (GRCm39) probably benign Het
Rbm12 T C 2: 155,938,841 (GRCm39) E477G probably damaging Het
Rpl7 T C 1: 16,173,753 (GRCm39) K57R probably benign Het
Spata31h1 G A 10: 82,123,476 (GRCm39) A3178V probably benign Het
Stab2 C T 10: 86,832,728 (GRCm39) C99Y probably damaging Het
Tas1r1 T A 4: 152,113,047 (GRCm39) T669S probably benign Het
Tle5 A T 10: 81,400,534 (GRCm39) I73F probably benign Het
Tm2d2 T C 8: 25,507,443 (GRCm39) L20P possibly damaging Het
Tmem158 G T 9: 123,089,132 (GRCm39) A160E possibly damaging Het
Tpst2 T A 5: 112,457,714 (GRCm39) Y347* probably null Het
Trpm3 T C 19: 22,887,493 (GRCm39) I876T probably damaging Het
Ttc6 T C 12: 57,751,199 (GRCm39) F1364L probably damaging Het
Ttc6 T A 12: 57,776,194 (GRCm39) S1713T possibly damaging Het
Vmn2r85 A G 10: 130,254,171 (GRCm39) S838P probably damaging Het
Zc2hc1c T C 12: 85,336,549 (GRCm39) S69P possibly damaging Het
Zfp982 C A 4: 147,595,320 (GRCm39) N47K probably benign Het
Other mutations in Cnpy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02850:Cnpy3 APN 17 47,054,217 (GRCm39) intron probably benign
FR4304:Cnpy3 UTSW 17 47,047,672 (GRCm39) utr 3 prime probably benign
FR4304:Cnpy3 UTSW 17 47,047,669 (GRCm39) utr 3 prime probably benign
FR4589:Cnpy3 UTSW 17 47,047,665 (GRCm39) utr 3 prime probably benign
FR4976:Cnpy3 UTSW 17 47,047,673 (GRCm39) nonsense probably null
LCD18:Cnpy3 UTSW 17 47,048,462 (GRCm39) intron probably benign
R2357:Cnpy3 UTSW 17 47,062,909 (GRCm39) missense probably damaging 0.99
R3151:Cnpy3 UTSW 17 47,058,452 (GRCm39) missense probably damaging 1.00
R4429:Cnpy3 UTSW 17 47,058,070 (GRCm39) missense probably benign 0.00
R4713:Cnpy3 UTSW 17 47,058,391 (GRCm39) nonsense probably null
R6006:Cnpy3 UTSW 17 47,047,790 (GRCm39) missense probably benign 0.00
R7766:Cnpy3 UTSW 17 47,048,161 (GRCm39) missense possibly damaging 0.80
R9168:Cnpy3 UTSW 17 47,063,019 (GRCm39) missense unknown
RF013:Cnpy3 UTSW 17 47,047,670 (GRCm39) utr 3 prime probably benign
RF051:Cnpy3 UTSW 17 47,047,674 (GRCm39) utr 3 prime probably benign
RF052:Cnpy3 UTSW 17 47,047,674 (GRCm39) utr 3 prime probably benign
RF056:Cnpy3 UTSW 17 47,047,670 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTCCCTGGGATAAGATGAC -3'
(R):5'- TGCTAATGAGGAGGGCCATC -3'

Sequencing Primer
(F):5'- AGATGATAAACCTCGCCC -3'
(R):5'- ATGCCTGCCTTTACATCAAGAGTG -3'
Posted On 2021-07-15