Incidental Mutation 'R2285:Cnpy4'
| ID |
243273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnpy4
|
| Ensembl Gene |
ENSMUSG00000036968 |
| Gene Name |
canopy FGF signaling regulator 4 |
| Synonyms |
2610019P18Rik |
| MMRRC Submission |
040284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R2285 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138185768-138192180 bp(+) (GRCm39) |
| Type of Mutation |
splice site (228 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 138191087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057773]
[ENSMUST00000110932]
[ENSMUST00000110934]
|
| AlphaFold |
Q8BQ47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057773
|
| SMART Domains |
Protein: ENSMUSP00000052869
Gene: ENSMUSG00000049285
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
70 |
235 |
4.04e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110932
|
| SMART Domains |
Protein: ENSMUSP00000106557
Gene: ENSMUSG00000036968
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:DUF3456
|
32 |
160 |
9.5e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110934
AA Change: D221G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000106559
Gene: ENSMUSG00000036968
AA Change: D221G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:DUF3456
|
43 |
202 |
3.4e-51 |
PFAM |
|
low complexity region
|
218 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130126
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,087,037 (GRCm39) |
Y532H |
probably damaging |
Het |
| Bbs9 |
T |
G |
9: 22,590,230 (GRCm39) |
L656W |
probably damaging |
Het |
| Cibar2 |
T |
C |
8: 120,895,276 (GRCm39) |
N209D |
probably benign |
Het |
| Clu |
T |
C |
14: 66,218,408 (GRCm39) |
S423P |
probably benign |
Het |
| Col28a1 |
A |
T |
6: 8,097,078 (GRCm39) |
V440E |
probably damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,344,301 (GRCm39) |
N121S |
probably benign |
Het |
| Cpa5 |
G |
T |
6: 30,615,063 (GRCm39) |
V67L |
probably benign |
Het |
| Emilin1 |
G |
A |
5: 31,075,544 (GRCm39) |
R595H |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 16,287,469 (GRCm39) |
Q685K |
probably damaging |
Het |
| Gfra4 |
C |
T |
2: 130,883,651 (GRCm39) |
R34H |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,049,308 (GRCm39) |
V410M |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,245,446 (GRCm39) |
F235L |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Mipep |
T |
C |
14: 61,024,843 (GRCm39) |
S95P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nxpe3 |
C |
T |
16: 55,686,588 (GRCm39) |
G140D |
probably damaging |
Het |
| Or6c66b |
A |
G |
10: 129,376,537 (GRCm39) |
I44V |
probably benign |
Het |
| Ppcs |
T |
A |
4: 119,276,174 (GRCm39) |
K137I |
possibly damaging |
Het |
| Tmc1 |
A |
G |
19: 20,767,163 (GRCm39) |
M731T |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,677 (GRCm39) |
V115D |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,611,246 (GRCm39) |
T1190I |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,684,137 (GRCm39) |
F251I |
probably damaging |
Het |
|
| Other mutations in Cnpy4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02247:Cnpy4
|
APN |
5 |
138,191,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0317:Cnpy4
|
UTSW |
5 |
138,191,074 (GRCm39) |
nonsense |
probably null |
|
|
R0525:Cnpy4
|
UTSW |
5 |
138,190,878 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0549:Cnpy4
|
UTSW |
5 |
138,185,899 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0568:Cnpy4
|
UTSW |
5 |
138,190,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Cnpy4
|
UTSW |
5 |
138,191,102 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4272:Cnpy4
|
UTSW |
5 |
138,190,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6682:Cnpy4
|
UTSW |
5 |
138,185,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7283:Cnpy4
|
UTSW |
5 |
138,191,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7787:Cnpy4
|
UTSW |
5 |
138,190,900 (GRCm39) |
missense |
probably benign |
|
|
R8087:Cnpy4
|
UTSW |
5 |
138,188,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Cnpy4
|
UTSW |
5 |
138,190,854 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCACCATCAGGAGCAG -3'
(R):5'- AGGATCATAGCCGAGATCATACC -3'
Sequencing Primer
(F):5'- CCAGCATTTTCTCTGTGAGCGG -3'
(R):5'- TAGCCGAGATCATACCAAGAAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation