Incidental Mutation 'IGL01338:Cpvl'
| ID |
74725 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpvl
|
| Ensembl Gene |
ENSMUSG00000052955 |
| Gene Name |
carboxypeptidase, vitellogenic-like |
| Synonyms |
4933436L16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL01338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
53850264-53955656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53951640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 48
(S48C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166545]
[ENSMUST00000203101]
[ENSMUST00000204674]
|
| AlphaFold |
Q9D3S9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166545
AA Change: S48C
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131462
Gene: ENSMUSG00000052955
AA Change: S48C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S10
|
66 |
470 |
3.5e-106 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203101
AA Change: S48C
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145288
Gene: ENSMUSG00000052955
AA Change: S48C
| 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 |
noncoding transcript
Transcript: ENSMUST00000203792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204478
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204674
AA Change: S48C
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144942
Gene: ENSMUSG00000052955
AA Change: S48C
| 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: ENSMUST00000204733
|
| Coding Region Coverage |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
A |
G |
1: 63,591,014 (GRCm39) |
T494A |
possibly damaging |
Het |
| Adamts16 |
C |
T |
13: 70,984,234 (GRCm39) |
C143Y |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,232,581 (GRCm39) |
I195V |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,392,896 (GRCm39) |
S17P |
probably benign |
Het |
| Cfap298 |
T |
C |
16: 90,722,936 (GRCm39) |
N266S |
possibly damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
G |
T |
7: 26,458,842 (GRCm39) |
M138I |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,518,611 (GRCm39) |
Y510C |
possibly damaging |
Het |
| Derl2 |
A |
G |
11: 70,901,181 (GRCm39) |
F229S |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,949,979 (GRCm39) |
E452G |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,180,214 (GRCm39) |
K180E |
probably benign |
Het |
| Dus1l |
G |
A |
11: 120,683,918 (GRCm39) |
R177C |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,813,020 (GRCm39) |
I167V |
probably damaging |
Het |
| Fam219b |
A |
T |
9: 57,445,305 (GRCm39) |
|
probably null |
Het |
| Fn1 |
T |
C |
1: 71,665,369 (GRCm39) |
E916G |
probably damaging |
Het |
| Gm2058 |
C |
T |
7: 39,238,580 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd1 |
T |
A |
15: 99,616,056 (GRCm39) |
V22E |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,377,475 (GRCm39) |
F124L |
probably damaging |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,336 (GRCm39) |
|
probably benign |
Het |
| Igfbp3 |
A |
T |
11: 7,158,478 (GRCm39) |
F262I |
possibly damaging |
Het |
| Klhl18 |
A |
G |
9: 110,284,501 (GRCm39) |
Y62H |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,064,268 (GRCm39) |
E1238K |
probably benign |
Het |
| Man1b1 |
A |
G |
2: 25,228,239 (GRCm39) |
K170E |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,147,382 (GRCm39) |
I39N |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,026,587 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
C |
A |
7: 99,462,629 (GRCm39) |
G365W |
probably damaging |
Het |
| Nipal3 |
A |
C |
4: 135,199,194 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
A |
G |
12: 89,221,804 (GRCm39) |
I528V |
possibly damaging |
Het |
| Or10al6 |
A |
T |
17: 38,082,730 (GRCm39) |
H71L |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,103,608 (GRCm39) |
K204R |
probably damaging |
Het |
| Pax8 |
A |
G |
2: 24,325,931 (GRCm39) |
S318P |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,590 (GRCm39) |
N242Y |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,786,259 (GRCm39) |
K649* |
probably null |
Het |
| Ppm1n |
A |
T |
7: 19,013,179 (GRCm39) |
D257E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,052,796 (GRCm39) |
E811G |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
| Rtkn2 |
G |
T |
10: 67,861,349 (GRCm39) |
C258F |
possibly damaging |
Het |
| Scn11a |
G |
A |
9: 119,613,227 (GRCm39) |
|
probably benign |
Het |
| Snx8 |
G |
A |
5: 140,343,851 (GRCm39) |
R96C |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,107,000 (GRCm39) |
T5649S |
possibly damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,344,970 (GRCm39) |
C82* |
probably null |
Het |
| Tnpo2 |
T |
C |
8: 85,767,155 (GRCm39) |
L55P |
probably damaging |
Het |
| Tsc22d2 |
T |
C |
3: 58,324,836 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
G |
6: 113,371,690 (GRCm39) |
V19G |
probably damaging |
Het |
| Ube2r2 |
A |
G |
4: 41,174,119 (GRCm39) |
I86V |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,814,892 (GRCm39) |
T3153I |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,636 (GRCm39) |
I753T |
probably damaging |
Het |
|
| Other mutations in Cpvl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5863:Cpvl
|
UTSW |
6 |
53,850,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation