Incidental Mutation 'IGL02406:Cpq'
ID |
292080 |
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 # |
IGL02406
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
33083275-33594698 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 33302654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 268
(N268K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042167]
[ENSMUST00000228916]
|
AlphaFold |
Q9WVJ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042167
AA Change: N268K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039046 Gene: ENSMUSG00000039007 AA Change: N268K
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 |
noncoding transcript
Transcript: ENSMUST00000226814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226896
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228916
AA Change: N268K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
G |
T |
7: 120,139,825 (GRCm39) |
A1496S |
probably damaging |
Het |
Abra |
A |
T |
15: 41,732,583 (GRCm39) |
V161E |
probably damaging |
Het |
Adcy4 |
G |
A |
14: 56,007,504 (GRCm39) |
T942I |
possibly damaging |
Het |
Atrip |
A |
G |
9: 108,894,487 (GRCm39) |
V480A |
probably damaging |
Het |
Azin1 |
A |
T |
15: 38,491,809 (GRCm39) |
D382E |
probably benign |
Het |
BC034090 |
G |
T |
1: 155,100,899 (GRCm39) |
A455E |
probably benign |
Het |
Clstn1 |
A |
G |
4: 149,711,816 (GRCm39) |
Y121C |
probably damaging |
Het |
Cpsf7 |
A |
G |
19: 10,509,352 (GRCm39) |
S88G |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp2j11 |
G |
A |
4: 96,236,776 (GRCm39) |
A10V |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,827,206 (GRCm39) |
V983A |
probably benign |
Het |
Dspp |
G |
T |
5: 104,325,232 (GRCm39) |
E532* |
probably null |
Het |
Ercc4 |
G |
T |
16: 12,941,400 (GRCm39) |
D243Y |
probably damaging |
Het |
Fars2 |
C |
A |
13: 36,594,145 (GRCm39) |
D383E |
probably benign |
Het |
Fip1l1 |
A |
G |
5: 74,725,205 (GRCm39) |
T280A |
probably benign |
Het |
Gcgr |
T |
G |
11: 120,428,010 (GRCm39) |
N292K |
probably damaging |
Het |
Gtpbp4 |
T |
A |
13: 9,041,786 (GRCm39) |
K85M |
possibly damaging |
Het |
Jhy |
A |
G |
9: 40,822,285 (GRCm39) |
Y618H |
probably damaging |
Het |
Mbd4 |
A |
T |
6: 115,825,986 (GRCm39) |
I314N |
possibly damaging |
Het |
Mbtd1 |
C |
T |
11: 93,799,684 (GRCm39) |
T70M |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,300,522 (GRCm39) |
H1504R |
probably benign |
Het |
Mks1 |
T |
C |
11: 87,753,611 (GRCm39) |
V515A |
probably benign |
Het |
Msantd2 |
G |
T |
9: 37,434,755 (GRCm39) |
V332L |
probably damaging |
Het |
Myrip |
A |
T |
9: 120,296,598 (GRCm39) |
T836S |
probably benign |
Het |
Nbea |
T |
C |
3: 55,993,687 (GRCm39) |
I238V |
probably benign |
Het |
Plekhh1 |
T |
C |
12: 79,115,783 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,488,399 (GRCm39) |
N507S |
probably benign |
Het |
Prss12 |
G |
A |
3: 123,299,123 (GRCm39) |
V632I |
possibly damaging |
Het |
Puf60 |
A |
G |
15: 75,946,458 (GRCm39) |
S121P |
probably damaging |
Het |
Raet1e |
G |
A |
10: 22,056,535 (GRCm39) |
C37Y |
probably damaging |
Het |
Ralgps2 |
G |
T |
1: 156,655,838 (GRCm39) |
A362E |
possibly damaging |
Het |
Scn1a |
A |
G |
2: 66,156,380 (GRCm39) |
S510P |
possibly damaging |
Het |
Skap2 |
A |
C |
6: 51,851,453 (GRCm39) |
|
probably null |
Het |
Slc4a10 |
G |
A |
2: 62,021,113 (GRCm39) |
V54M |
probably benign |
Het |
Spata17 |
A |
G |
1: 186,849,458 (GRCm39) |
|
probably null |
Het |
Stoml3 |
T |
A |
3: 53,410,671 (GRCm39) |
N128K |
probably damaging |
Het |
Tatdn2 |
T |
A |
6: 113,681,174 (GRCm39) |
S402R |
probably benign |
Het |
Tmprss11f |
A |
G |
5: 86,681,525 (GRCm39) |
W243R |
probably damaging |
Het |
Vmn2r32 |
A |
G |
7: 7,479,709 (GRCm39) |
Y155H |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,284,508 (GRCm39) |
T528S |
possibly damaging |
Het |
Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
Het |
Zkscan3 |
T |
C |
13: 21,572,348 (GRCm39) |
N428S |
possibly damaging |
Het |
Zxdc |
A |
G |
6: 90,375,818 (GRCm39) |
S765G |
probably benign |
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 |
IGL02527:Cpq
|
APN |
15 |
33,302,509 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02596:Cpq
|
APN |
15 |
33,213,160 (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 |