Incidental Mutation 'R3702:Cpped1'
| ID |
258584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpped1
|
| Ensembl Gene |
ENSMUSG00000065979 |
| Gene Name |
calcineurin-like phosphoesterase domain containing 1 |
| Synonyms |
C530044N13Rik |
| MMRRC Submission |
040695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3702 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
11621585-11727309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 11646304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 135
(D135E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096272]
[ENSMUST00000121750]
[ENSMUST00000127972]
|
| AlphaFold |
Q8BFS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096272
AA Change: D149E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093992
Gene: ENSMUSG00000065979
AA Change: D149E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
33 |
250 |
4.6e-14 |
PFAM |
|
Pfam:Metallophos_2
|
63 |
285 |
6e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121750
AA Change: D135E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112587
Gene: ENSMUSG00000065979
AA Change: D135E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
25 |
236 |
1e-14 |
PFAM |
|
Pfam:Metallophos_2
|
45 |
271 |
6.8e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127972
AA Change: D173E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119989
Gene: ENSMUSG00000065979
AA Change: D173E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
57 |
239 |
2e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145169
|
| Meta Mutation Damage Score |
0.7513 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,178,884 (GRCm39) |
|
probably null |
Het |
| Aopep |
A |
T |
13: 63,163,144 (GRCm39) |
N55I |
probably benign |
Het |
| Cacna1a |
T |
G |
8: 85,344,475 (GRCm39) |
S1846A |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,187 (GRCm39) |
D302V |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,556,182 (GRCm39) |
M878V |
probably benign |
Het |
| Col24a1 |
C |
T |
3: 145,043,621 (GRCm39) |
H603Y |
probably benign |
Het |
| Commd1 |
T |
A |
11: 22,924,057 (GRCm39) |
L277H |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,114 (GRCm39) |
T373A |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,857,203 (GRCm39) |
V2184M |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Grik4 |
T |
C |
9: 42,586,514 (GRCm39) |
K114E |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,430,972 (GRCm39) |
R359L |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,987,647 (GRCm39) |
L729P |
probably damaging |
Het |
| Myot |
T |
A |
18: 44,487,162 (GRCm39) |
|
probably null |
Het |
| Obox2 |
G |
T |
7: 15,130,882 (GRCm39) |
R38L |
probably benign |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,080,401 (GRCm39) |
Q381R |
probably benign |
Het |
| Pip4k2b |
A |
G |
11: 97,620,374 (GRCm39) |
|
probably benign |
Het |
| Ppig |
T |
A |
2: 69,563,553 (GRCm39) |
S89T |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,156,235 (GRCm39) |
D47G |
probably damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,253,087 (GRCm39) |
S362P |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,688,573 (GRCm39) |
T322I |
probably damaging |
Het |
| Taf3 |
G |
A |
2: 9,957,372 (GRCm39) |
T112I |
possibly damaging |
Het |
| Tcea1 |
T |
C |
1: 4,965,158 (GRCm39) |
V276A |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tomm40 |
G |
T |
7: 19,447,598 (GRCm39) |
T144K |
possibly damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,036,709 (GRCm39) |
|
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
|
| Other mutations in Cpped1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02221:Cpped1
|
APN |
16 |
11,646,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02448:Cpped1
|
APN |
16 |
11,623,253 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03048:Cpped1
|
UTSW |
16 |
11,646,339 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0725:Cpped1
|
UTSW |
16 |
11,646,314 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2084:Cpped1
|
UTSW |
16 |
11,646,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Cpped1
|
UTSW |
16 |
11,712,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4321:Cpped1
|
UTSW |
16 |
11,705,610 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4407:Cpped1
|
UTSW |
16 |
11,623,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4421:Cpped1
|
UTSW |
16 |
11,623,221 (GRCm39) |
makesense |
probably null |
|
|
R4672:Cpped1
|
UTSW |
16 |
11,623,238 (GRCm39) |
nonsense |
probably null |
|
|
R4704:Cpped1
|
UTSW |
16 |
11,703,493 (GRCm39) |
intron |
probably benign |
|
|
R4928:Cpped1
|
UTSW |
16 |
11,646,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5647:Cpped1
|
UTSW |
16 |
11,646,010 (GRCm39) |
unclassified |
probably benign |
|
|
R7260:Cpped1
|
UTSW |
16 |
11,646,327 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7610:Cpped1
|
UTSW |
16 |
11,712,742 (GRCm39) |
splice site |
probably null |
|
|
R8008:Cpped1
|
UTSW |
16 |
11,646,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Cpped1
|
UTSW |
16 |
11,623,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Cpped1
|
UTSW |
16 |
11,712,793 (GRCm39) |
nonsense |
probably null |
|
|
R9100:Cpped1
|
UTSW |
16 |
11,646,419 (GRCm39) |
missense |
|
|
|
X0017:Cpped1
|
UTSW |
16 |
11,646,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCAATACTCTGCAGGAATAGC -3'
(R):5'- TAGGTAAATGGCCTGCAGCG -3'
Sequencing Primer
(F):5'- TACTCTGCAGGAATAGCGGGATATG -3'
(R):5'- GCCTGCAGCGCTCTCATAATTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation