Incidental Mutation 'R5863:Cpvl'
| ID |
454006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpvl
|
| Ensembl Gene |
ENSMUSG00000052955 |
| Gene Name |
carboxypeptidase, vitellogenic-like |
| Synonyms |
4933436L16Rik |
| MMRRC Submission |
043232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
53850264-53955656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53850413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 475
(P475S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166545]
[ENSMUST00000203101]
[ENSMUST00000204674]
|
| AlphaFold |
Q9D3S9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166545
AA Change: P475S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131462
Gene: ENSMUSG00000052955
AA Change: P475S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S10
|
66 |
470 |
3.5e-106 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178568
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203101
AA Change: P431S
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145288
Gene: ENSMUSG00000052955
AA Change: P431S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S10
|
66 |
266 |
3.8e-68 |
PFAM |
|
Pfam:Peptidase_S10
|
262 |
426 |
5.2e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204674
AA Change: P475S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144942
Gene: ENSMUSG00000052955
AA Change: P475S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S10
|
66 |
470 |
3.5e-106 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the serine carboxypeptidase family of proteases that cleave amino acids from the C-terminus of a protein substrate. The human ortholog of this gene, where it was first characterized, was found to be upregulated during the maturation of monocytes to macrophages. The encoded protein may be involved in antigen processing, digestion of phagocytosed proteins in the lysosome and lamellipodium formation. Disruption of this gene in mice was found to cause embryonic lethality. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a transposon insertion allele die prior to birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,580,287 (GRCm39) |
I204T |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,575 (GRCm39) |
I136V |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,507,987 (GRCm39) |
I120T |
probably benign |
Het |
| Add3 |
C |
A |
19: 53,222,301 (GRCm39) |
L303I |
probably benign |
Het |
| Anln |
A |
G |
9: 22,249,280 (GRCm39) |
L149P |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,926 (GRCm39) |
E394G |
unknown |
Het |
| Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
| Auh |
T |
G |
13: 53,052,694 (GRCm39) |
N141T |
probably benign |
Het |
| B3galt2 |
G |
A |
1: 143,522,104 (GRCm39) |
R80Q |
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,117,666 (GRCm39) |
T343A |
probably benign |
Het |
| C3 |
T |
A |
17: 57,530,141 (GRCm39) |
I487F |
probably benign |
Het |
| Cast |
T |
C |
13: 74,884,875 (GRCm39) |
K326E |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,576,122 (GRCm39) |
H189L |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,497,058 (GRCm39) |
E51G |
probably damaging |
Het |
| Cstf2t |
G |
T |
19: 31,060,477 (GRCm39) |
L4F |
probably damaging |
Het |
| Dido1 |
A |
G |
2: 180,303,566 (GRCm39) |
V1446A |
probably benign |
Het |
| Dlg2 |
T |
A |
7: 91,360,987 (GRCm39) |
M35K |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,576,878 (GRCm39) |
L3043F |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,053,863 (GRCm39) |
S1225P |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,258,810 (GRCm39) |
F1443S |
probably benign |
Het |
| Flacc1 |
G |
T |
1: 58,730,908 (GRCm39) |
H49Q |
probably benign |
Het |
| Gm14226 |
C |
A |
2: 154,866,211 (GRCm39) |
T56N |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
| Kcnj8 |
T |
A |
6: 142,511,414 (GRCm39) |
I398F |
probably benign |
Het |
| Khdrbs1 |
G |
A |
4: 129,616,493 (GRCm39) |
R284C |
probably damaging |
Het |
| Nog |
A |
G |
11: 89,192,356 (GRCm39) |
L164P |
probably damaging |
Het |
| Or13a18 |
G |
A |
7: 140,190,544 (GRCm39) |
G155D |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,261,083 (GRCm39) |
S235P |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,590,434 (GRCm39) |
Q1771L |
possibly damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,387,593 (GRCm39) |
*193K |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,083,111 (GRCm39) |
I829N |
possibly damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,023 (GRCm39) |
P103S |
probably damaging |
Het |
| Rdh16f2 |
A |
C |
10: 127,712,256 (GRCm39) |
I238L |
probably benign |
Het |
| Sdk2 |
G |
T |
11: 113,725,810 (GRCm39) |
D1146E |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,848,779 (GRCm39) |
F412L |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,835,824 (GRCm39) |
T768A |
unknown |
Het |
| Stk32a |
A |
G |
18: 43,448,209 (GRCm39) |
N396S |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,373 (GRCm39) |
S260P |
possibly damaging |
Het |
| Tmem135 |
A |
G |
7: 88,797,176 (GRCm39) |
|
probably null |
Het |
| Tmem30c |
A |
G |
16: 57,090,418 (GRCm39) |
V263A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,587,102 (GRCm39) |
T21632S |
probably damaging |
Het |
| Ube2w |
A |
G |
1: 16,655,531 (GRCm39) |
I141T |
probably damaging |
Het |
| Zbtb47 |
A |
G |
9: 121,596,596 (GRCm39) |
S651G |
probably benign |
Het |
| Zscan20 |
A |
T |
4: 128,480,141 (GRCm39) |
C783* |
probably null |
Het |
|
| Other mutations in Cpvl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01338:Cpvl
|
APN |
6 |
53,951,640 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01340:Cpvl
|
APN |
6 |
53,873,436 (GRCm39) |
nonsense |
probably null |
|
|
IGL02596:Cpvl
|
APN |
6 |
53,908,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4472001:Cpvl
|
UTSW |
6 |
53,873,464 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0242:Cpvl
|
UTSW |
6 |
53,909,485 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0242:Cpvl
|
UTSW |
6 |
53,909,485 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1586:Cpvl
|
UTSW |
6 |
53,903,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Cpvl
|
UTSW |
6 |
53,931,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4609:Cpvl
|
UTSW |
6 |
53,951,605 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4664:Cpvl
|
UTSW |
6 |
53,908,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4665:Cpvl
|
UTSW |
6 |
53,908,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4666:Cpvl
|
UTSW |
6 |
53,908,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5909:Cpvl
|
UTSW |
6 |
53,909,413 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6163:Cpvl
|
UTSW |
6 |
53,850,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6948:Cpvl
|
UTSW |
6 |
53,873,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7023:Cpvl
|
UTSW |
6 |
53,944,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Cpvl
|
UTSW |
6 |
53,909,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Cpvl
|
UTSW |
6 |
53,951,744 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7488:Cpvl
|
UTSW |
6 |
53,924,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7694:Cpvl
|
UTSW |
6 |
53,909,502 (GRCm39) |
nonsense |
probably null |
|
|
R7728:Cpvl
|
UTSW |
6 |
53,902,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7750:Cpvl
|
UTSW |
6 |
53,903,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Cpvl
|
UTSW |
6 |
53,873,476 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7773:Cpvl
|
UTSW |
6 |
53,908,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7868:Cpvl
|
UTSW |
6 |
53,951,745 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8670:Cpvl
|
UTSW |
6 |
53,951,780 (GRCm39) |
start codon destroyed |
probably null |
0.69 |
|
R9228:Cpvl
|
UTSW |
6 |
53,951,779 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R9337:Cpvl
|
UTSW |
6 |
53,909,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Cpvl
|
UTSW |
6 |
53,903,837 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCATTAGTGCCTCAGACCC -3'
(R):5'- GTAGCAACACTATTCTGAATGTCAC -3'
Sequencing Primer
(F):5'- AAGTGTGCTCATGATCCCTAACTG -3'
(R):5'- AAGGTAATCGTCCGAGGT -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation