Incidental Mutation 'RF052:Cnpy3'
| ID |
605171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnpy3
|
| Ensembl Gene |
ENSMUSG00000023973 |
| Gene Name |
canopy FGF signaling regulator 3 |
| Synonyms |
ERDA5, 2410050O22Rik, Tnrc5, 1600025D17Rik, CAG4A |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF052 (G1)
|
| Quality Score |
213.459 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
47046631-47063140 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
CTC to CTCATC
at 47047674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059844]
[ENSMUST00000129200]
|
| AlphaFold |
Q9DAU1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059844
|
| SMART Domains |
Protein: ENSMUSP00000050309
Gene: ENSMUSG00000023973
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
CCGCCCACG |
CCGCCCACGCCCACG |
16: 56,447,948 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
CC |
CCACTGGC |
6: 125,099,108 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,675 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GGATGTGACAGACACACTGCCCAG |
GGATGTGACAGACACACTGCCCAGTGATGTGACAGACACACTGCCCAG |
9: 86,922,475 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,589 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
CACAGGCAGA |
CA |
7: 38,221,999 (GRCm39) |
|
probably null |
Het |
| Irag2 |
A |
ACCCC |
6: 145,106,257 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
C |
T |
2: 181,339,226 (GRCm39) |
D75N |
probably damaging |
Het |
| Map1a |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,776 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
ACGTTAGCAGTGAGGAGCAAGCTGAGA |
ACGTTAGCAGTGAGGAGCAAGCTGAGATACGCGTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,065 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,475 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CATGGTCCTGTAGAGCAATGGGGATTC |
CATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTAATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,775 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CTGTAGAGCAATGGGGATTC |
CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC |
5: 90,756,782 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
G |
GTGGTGGTGT |
7: 127,384,529 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
AGCAGC |
AGCAGCCGCAGC |
3: 54,635,086 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8 |
ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,900 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cnpy3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R8875:Cnpy3
|
UTSW |
17 |
47,048,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
RF056:Cnpy3
|
UTSW |
17 |
47,047,670 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCTTGCTGTTGTTCAAGG -3'
(R):5'- TTGAAGGCTGCTCCCCTAAG -3'
Sequencing Primer
(F):5'- TTGCTGTTGTTCAAGGGAAGGAAAG -3'
(R):5'- TAGGCAAGCTGGTCCTGAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation