Incidental Mutation 'IGL02596:Cpq'
ID |
299871 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpq
|
Ensembl Gene |
ENSMUSG00000039007 |
Gene Name |
carboxypeptidase Q |
Synonyms |
Lal-1, HLS2, Pgcp, 2610034C17Rik, 1190003P12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.808)
|
Stock # |
IGL02596
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
33083275-33594698 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 33213160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 60
(R60W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042167]
[ENSMUST00000226483]
[ENSMUST00000228737]
[ENSMUST00000228916]
|
AlphaFold |
Q9WVJ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042167
AA Change: R60W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000039046 Gene: ENSMUSG00000039007 AA Change: R60W
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
Pfam:Peptidase_M28
|
268 |
457 |
5.9e-29 |
PFAM |
Pfam:Peptidase_M20
|
284 |
457 |
1.6e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226483
AA Change: R60W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226896
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228737
AA Change: R60W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228916
AA Change: R60W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
T |
G |
4: 73,868,904 (GRCm39) |
Q11H |
possibly damaging |
Het |
Armcx5 |
T |
A |
X: 134,647,268 (GRCm39) |
I448K |
probably damaging |
Het |
Atp4b |
T |
A |
8: 13,443,471 (GRCm39) |
Y69F |
possibly damaging |
Het |
Ccdc7b |
T |
A |
8: 129,798,959 (GRCm39) |
V12E |
probably benign |
Het |
Cdc5l |
C |
A |
17: 45,735,530 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
C |
T |
13: 73,761,785 (GRCm39) |
R330C |
probably benign |
Het |
Cpvl |
T |
C |
6: 53,908,995 (GRCm39) |
Y256C |
probably damaging |
Het |
Cryzl2 |
A |
T |
1: 157,292,539 (GRCm39) |
D107V |
probably damaging |
Het |
Cyp2e1 |
G |
A |
7: 140,350,031 (GRCm39) |
V239M |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,103,659 (GRCm39) |
D292V |
possibly damaging |
Het |
Dcaf1 |
A |
G |
9: 106,740,220 (GRCm39) |
Y1202C |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,538,137 (GRCm39) |
N3616S |
probably benign |
Het |
Enam |
A |
G |
5: 88,650,885 (GRCm39) |
D723G |
probably benign |
Het |
Eps8l1 |
G |
A |
7: 4,473,871 (GRCm39) |
R226H |
probably damaging |
Het |
Erich2 |
A |
G |
2: 70,343,147 (GRCm39) |
|
probably benign |
Het |
Esyt3 |
A |
C |
9: 99,210,068 (GRCm39) |
L271V |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,881,052 (GRCm39) |
N838S |
probably benign |
Het |
Gad1 |
T |
C |
2: 70,425,028 (GRCm39) |
Y441H |
probably damaging |
Het |
Gja1 |
G |
T |
10: 56,264,348 (GRCm39) |
V236F |
possibly damaging |
Het |
Gpr156 |
T |
C |
16: 37,799,086 (GRCm39) |
I100T |
probably benign |
Het |
Hace1 |
A |
G |
10: 45,576,736 (GRCm39) |
T803A |
possibly damaging |
Het |
Jagn1 |
G |
A |
6: 113,424,562 (GRCm39) |
V145I |
probably benign |
Het |
Kdm4b |
C |
A |
17: 56,706,706 (GRCm39) |
T899K |
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,602,187 (GRCm39) |
V40M |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mast1 |
G |
T |
8: 85,644,400 (GRCm39) |
A843E |
probably benign |
Het |
Mbd1 |
T |
A |
18: 74,409,868 (GRCm39) |
|
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,051,379 (GRCm39) |
|
probably benign |
Het |
Mlh3 |
A |
G |
12: 85,287,732 (GRCm39) |
|
probably null |
Het |
Or10ag53 |
C |
A |
2: 87,082,473 (GRCm39) |
T64K |
probably damaging |
Het |
Or5b109 |
A |
T |
19: 13,211,763 (GRCm39) |
I50F |
probably damaging |
Het |
Pwp1 |
A |
G |
10: 85,707,882 (GRCm39) |
|
probably null |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Slc12a7 |
T |
A |
13: 73,933,242 (GRCm39) |
V100E |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,723,083 (GRCm39) |
H699L |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tgfb1i1 |
T |
A |
7: 127,848,068 (GRCm39) |
M1K |
probably null |
Het |
Tubgcp6 |
T |
A |
15: 88,985,117 (GRCm39) |
E1657V |
probably damaging |
Het |
Zfp770 |
A |
G |
2: 114,026,308 (GRCm39) |
V587A |
probably benign |
Het |
Zxdc |
A |
G |
6: 90,350,691 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cpq |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01108:Cpq
|
APN |
15 |
33,497,433 (GRCm39) |
missense |
probably benign |
|
IGL01773:Cpq
|
APN |
15 |
33,212,996 (GRCm39) |
missense |
probably benign |
0.42 |
IGL02406:Cpq
|
APN |
15 |
33,302,654 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02527:Cpq
|
APN |
15 |
33,302,509 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02642:Cpq
|
APN |
15 |
33,381,546 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03382:Cpq
|
APN |
15 |
33,213,089 (GRCm39) |
missense |
probably damaging |
0.96 |
R0309:Cpq
|
UTSW |
15 |
33,594,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R1545:Cpq
|
UTSW |
15 |
33,250,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R1698:Cpq
|
UTSW |
15 |
33,250,272 (GRCm39) |
missense |
probably benign |
0.45 |
R1967:Cpq
|
UTSW |
15 |
33,497,348 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2321:Cpq
|
UTSW |
15 |
33,594,291 (GRCm39) |
missense |
probably benign |
|
R2431:Cpq
|
UTSW |
15 |
33,594,265 (GRCm39) |
nonsense |
probably null |
|
R4705:Cpq
|
UTSW |
15 |
33,497,484 (GRCm39) |
missense |
probably benign |
|
R5087:Cpq
|
UTSW |
15 |
33,213,008 (GRCm39) |
missense |
probably benign |
0.08 |
R5367:Cpq
|
UTSW |
15 |
33,213,250 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5790:Cpq
|
UTSW |
15 |
33,250,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6347:Cpq
|
UTSW |
15 |
33,290,332 (GRCm39) |
splice site |
probably null |
|
R7319:Cpq
|
UTSW |
15 |
33,250,185 (GRCm39) |
missense |
probably benign |
0.02 |
R7495:Cpq
|
UTSW |
15 |
33,302,586 (GRCm39) |
missense |
probably damaging |
0.98 |
R7711:Cpq
|
UTSW |
15 |
33,497,493 (GRCm39) |
missense |
probably benign |
0.04 |
R7806:Cpq
|
UTSW |
15 |
33,497,443 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7945:Cpq
|
UTSW |
15 |
33,594,382 (GRCm39) |
missense |
probably benign |
|
R8440:Cpq
|
UTSW |
15 |
33,213,341 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8944:Cpq
|
UTSW |
15 |
33,594,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R8991:Cpq
|
UTSW |
15 |
33,213,353 (GRCm39) |
missense |
probably damaging |
0.99 |
R8992:Cpq
|
UTSW |
15 |
33,594,381 (GRCm39) |
missense |
probably benign |
0.05 |
R9431:Cpq
|
UTSW |
15 |
33,250,078 (GRCm39) |
missense |
probably benign |
0.12 |
R9445:Cpq
|
UTSW |
15 |
33,213,391 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9650:Cpq
|
UTSW |
15 |
33,497,405 (GRCm39) |
missense |
possibly damaging |
0.82 |
X0063:Cpq
|
UTSW |
15 |
33,213,398 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cpq
|
UTSW |
15 |
33,381,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |