Incidental Mutation 'IGL02850:Cnpy3'
ID361858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnpy3
Ensembl Gene ENSMUSG00000023973
Gene Namecanopy FGF signaling regulator 3
SynonymsTnrc5, 1600025D17Rik, ERDA5, CAG4A, 2410050O22Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02850
Quality Score
Status
Chromosome17
Chromosomal Location46735705-46752214 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 46743291 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059844] [ENSMUST00000121671] [ENSMUST00000129200]
Predicted Effect probably benign
Transcript: ENSMUST00000059844
SMART Domains Protein: ENSMUSP00000050309
Gene: ENSMUSG00000023973

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: ENSMUST00000121671
SMART Domains Protein: ENSMUSP00000113350
Gene: ENSMUSG00000023973

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:DUF3456 46 102 4.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129200
SMART Domains Protein: ENSMUSP00000120790
Gene: ENSMUSG00000023973

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Coding Region Coverage
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 A G 5: 129,115,055 D63G probably damaging Het
Ahnak A G 19: 9,002,596 T415A probably benign Het
Antxr2 A G 5: 98,004,078 V178A probably damaging Het
Ap1s1 A G 5: 137,041,780 Y127H possibly damaging Het
Bbs2 A T 8: 94,077,082 M510K probably benign Het
C130079G13Rik A G 3: 59,936,572 Y229C probably damaging Het
Cbfa2t2 A G 2: 154,535,170 N591S probably damaging Het
Chd6 T A 2: 161,019,616 R504* probably null Het
Cntn2 T G 1: 132,518,376 K824T probably benign Het
Cntnap3 T C 13: 64,757,409 T853A probably damaging Het
Cog4 G A 8: 110,866,589 G444D possibly damaging Het
Col18a1 A T 10: 77,096,466 I510N probably damaging Het
Cxcr5 G A 9: 44,514,106 R85W probably damaging Het
Cyth3 C A 5: 143,686,504 T58K probably damaging Het
Dio3 T C 12: 110,279,536 V102A probably damaging Het
Dmbx1 G A 4: 115,918,007 R359C probably damaging Het
Fras1 C A 5: 96,778,175 P3746Q probably damaging Het
Glt1d1 T A 5: 127,644,345 M32K probably benign Het
Hunk A G 16: 90,432,572 N31S probably damaging Het
Ints11 T C 4: 155,875,304 S123P probably benign Het
Izumo2 T C 7: 44,708,915 L58S probably damaging Het
Izumo4 A G 10: 80,704,198 probably benign Het
Kcnh7 T A 2: 62,787,685 K487* probably null Het
Lrp12 T C 15: 39,878,575 Y248C probably damaging Het
Map3k4 T C 17: 12,271,914 D210G probably damaging Het
Mast4 T C 13: 102,754,232 D1038G probably damaging Het
Noa1 T C 5: 77,294,491 T651A probably benign Het
Nop2 A C 6: 125,144,085 K610T possibly damaging Het
Nop2 G T 6: 125,144,070 G605V probably benign Het
Npvf G A 6: 50,652,690 R107W probably benign Het
Oit1 C T 14: 8,361,475 probably null Het
Olfr286 A G 15: 98,227,351 V98A probably benign Het
Olfr92 T C 17: 37,111,973 N3S probably benign Het
Oxr1 A G 15: 41,854,933 T775A probably damaging Het
P2ry13 C T 3: 59,209,608 A250T probably damaging Het
Pcsk9 A T 4: 106,458,865 V127E probably damaging Het
Piezo2 G A 18: 63,020,633 S2547F probably benign Het
Pinx1 A G 14: 63,919,160 T179A probably damaging Het
Pjvk T C 2: 76,658,451 V322A possibly damaging Het
Pla2r1 T A 2: 60,502,069 R476S probably benign Het
Polb A G 8: 22,648,261 probably benign Het
Polg2 C T 11: 106,768,467 D407N probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Sctr T C 1: 120,044,663 M193T possibly damaging Het
Sctr T A 1: 120,022,179 C33S probably damaging Het
Sema5b T C 16: 35,660,515 S819P probably benign Het
Setd1b C T 5: 123,148,589 T566I unknown Het
Sptbn4 G A 7: 27,426,833 R222C possibly damaging Het
Taf5l A G 8: 124,003,458 V129A possibly damaging Het
Tmem163 C T 1: 127,500,247 V201I probably benign Het
Tmem57 T C 4: 134,828,386 K259E probably benign Het
Ube3b T C 5: 114,406,249 L569P probably damaging Het
Vwa3a A G 7: 120,773,292 E301G probably benign Het
Wnk1 T C 6: 119,937,862 I1660V probably benign Het
Zbtb22 T A 17: 33,917,013 L44Q probably damaging Het
Zfp691 T C 4: 119,170,192 D281G probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Cnpy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:Cnpy3 UTSW 17 46736743 utr 3 prime probably benign
FR4304:Cnpy3 UTSW 17 46736746 utr 3 prime probably benign
FR4589:Cnpy3 UTSW 17 46736739 utr 3 prime probably benign
FR4976:Cnpy3 UTSW 17 46736747 nonsense probably null
LCD18:Cnpy3 UTSW 17 46737536 intron probably benign
R2357:Cnpy3 UTSW 17 46751983 missense probably damaging 0.99
R3151:Cnpy3 UTSW 17 46747526 missense probably damaging 1.00
R4429:Cnpy3 UTSW 17 46747144 missense probably benign 0.00
R4713:Cnpy3 UTSW 17 46747465 nonsense probably null
R6006:Cnpy3 UTSW 17 46736864 missense probably benign 0.00
R7766:Cnpy3 UTSW 17 46737235 missense possibly damaging 0.80
RF013:Cnpy3 UTSW 17 46736744 utr 3 prime probably benign
RF051:Cnpy3 UTSW 17 46736748 utr 3 prime probably benign
RF052:Cnpy3 UTSW 17 46736748 utr 3 prime probably benign
RF056:Cnpy3 UTSW 17 46736744 nonsense probably null
Posted On2015-12-18