Incidental Mutation 'R2431:Cpq'
ID |
250418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpq
|
Ensembl Gene |
ENSMUSG00000039007 |
Gene Name |
carboxypeptidase Q |
Synonyms |
Lal-1, HLS2, Pgcp, 2610034C17Rik, 1190003P12Rik |
MMRRC Submission |
040392-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.808)
|
Stock # |
R2431 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
33083275-33594698 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 33594265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 425
(Y425*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042167]
[ENSMUST00000228916]
|
AlphaFold |
Q9WVJ3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042167
AA Change: Y425*
|
SMART Domains |
Protein: ENSMUSP00000039046 Gene: ENSMUSG00000039007 AA Change: Y425*
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: ENSMUST00000157437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228272
|
Predicted Effect |
probably null
Transcript: ENSMUST00000228916
AA Change: Y425*
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.2%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap23 |
T |
C |
11: 97,343,230 (GRCm39) |
V504A |
probably benign |
Het |
Atr |
T |
G |
9: 95,744,945 (GRCm39) |
N87K |
probably benign |
Het |
Auts2 |
A |
T |
5: 132,287,887 (GRCm39) |
L32* |
probably null |
Het |
Bptf |
A |
G |
11: 106,938,066 (GRCm39) |
V2675A |
possibly damaging |
Het |
Brdt |
C |
T |
5: 107,525,881 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
C |
10: 41,445,841 (GRCm39) |
K444E |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,501,280 (GRCm39) |
D96G |
probably damaging |
Het |
Eri1 |
A |
G |
8: 35,943,632 (GRCm39) |
Y221H |
probably damaging |
Het |
Fbln2 |
A |
G |
6: 91,246,955 (GRCm39) |
E1065G |
probably damaging |
Het |
Focad |
T |
C |
4: 88,249,264 (GRCm39) |
V837A |
unknown |
Het |
Ica1 |
G |
A |
6: 8,658,265 (GRCm39) |
T284I |
probably benign |
Het |
Isg15 |
C |
T |
4: 156,285,158 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,019,101 (GRCm39) |
T1073A |
possibly damaging |
Het |
Mmp16 |
A |
T |
4: 18,054,491 (GRCm39) |
R332S |
probably benign |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Or2a25 |
T |
C |
6: 42,888,946 (GRCm39) |
L163S |
probably damaging |
Het |
Or2ag19 |
T |
C |
7: 106,444,598 (GRCm39) |
V260A |
possibly damaging |
Het |
Or5b21 |
T |
C |
19: 12,839,970 (GRCm39) |
V277A |
probably damaging |
Het |
Or7g12 |
A |
G |
9: 18,899,299 (GRCm39) |
N5S |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,378,695 (GRCm39) |
H78R |
possibly damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,897,197 (GRCm39) |
N121D |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,271,389 (GRCm39) |
T3055A |
possibly damaging |
Het |
Ppp5c |
C |
T |
7: 16,749,350 (GRCm39) |
V160M |
probably damaging |
Het |
Ptpn23 |
G |
A |
9: 110,215,347 (GRCm39) |
R1438* |
probably null |
Het |
Ptpro |
G |
A |
6: 137,420,583 (GRCm39) |
W183* |
probably null |
Het |
Pygm |
T |
C |
19: 6,443,815 (GRCm39) |
M592T |
probably damaging |
Het |
Qdpr |
A |
G |
5: 45,602,072 (GRCm39) |
V68A |
probably damaging |
Het |
Rfc5 |
A |
C |
5: 117,523,523 (GRCm39) |
S92A |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,831,715 (GRCm39) |
Q362R |
probably benign |
Het |
Ror1 |
G |
A |
4: 100,298,352 (GRCm39) |
C575Y |
probably damaging |
Het |
Skint9 |
T |
A |
4: 112,246,464 (GRCm39) |
D216V |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,149,242 (GRCm39) |
|
probably null |
Het |
Ugp2 |
A |
T |
11: 21,279,025 (GRCm39) |
V387D |
probably damaging |
Het |
Umodl1 |
T |
C |
17: 31,211,062 (GRCm39) |
S747P |
possibly damaging |
Het |
Vtcn1 |
A |
T |
3: 100,732,893 (GRCm39) |
I7F |
possibly damaging |
Het |
Zfp507 |
C |
T |
7: 35,494,827 (GRCm39) |
R72H |
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 |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTACTGCAGAATAAGGTTTTGG -3'
(R):5'- ACAGAGAACAAGGTCCTCTCTTC -3'
Sequencing Primer
(F):5'- CTCTCCCTCAGTGATGAAGAGATAG -3'
(R):5'- CTTGTTCTCCTTAGGACCTGGG -3'
|
Posted On |
2014-11-12 |