Incidental Mutation 'IGL02527:Cpq'
| ID |
297151 |
| 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: 0.833)
|
| Stock # |
IGL02527
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
33083275-33594698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33302509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 220
(Y220C)
|
| 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: Y220C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039046
Gene: ENSMUSG00000039007
AA Change: Y220C
| 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: Y220C
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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,638,392 (GRCm39) |
V868A |
probably damaging |
Het |
| Adam25 |
T |
A |
8: 41,206,785 (GRCm39) |
I17K |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,650 (GRCm39) |
M123K |
probably benign |
Het |
| Asic3 |
A |
G |
5: 24,621,275 (GRCm39) |
M332V |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,042,712 (GRCm39) |
M1126K |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,334,966 (GRCm39) |
T818A |
probably damaging |
Het |
| Cda |
G |
A |
4: 138,070,832 (GRCm39) |
Q104* |
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,680,783 (GRCm39) |
N245S |
probably damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,009,635 (GRCm39) |
D234G |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,047,795 (GRCm39) |
K1026R |
possibly damaging |
Het |
| Dpep1 |
T |
C |
8: 123,925,487 (GRCm39) |
F47L |
probably damaging |
Het |
| Dppa4 |
G |
T |
16: 48,109,456 (GRCm39) |
R66L |
possibly damaging |
Het |
| Elac1 |
C |
A |
18: 73,880,304 (GRCm39) |
E31* |
probably null |
Het |
| Fggy |
A |
G |
4: 95,585,306 (GRCm39) |
K62E |
probably damaging |
Het |
| Ficd |
T |
A |
5: 113,875,027 (GRCm39) |
M32K |
probably benign |
Het |
| Foxd4 |
A |
G |
19: 24,877,178 (GRCm39) |
S341P |
probably benign |
Het |
| Gnb4 |
G |
T |
3: 32,644,015 (GRCm39) |
T181K |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,900,389 (GRCm39) |
Y164F |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,598,932 (GRCm39) |
L564P |
probably damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,293,231 (GRCm39) |
V257I |
probably benign |
Het |
| Itga10 |
C |
A |
3: 96,562,940 (GRCm39) |
|
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,707 (GRCm39) |
V284A |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,705,322 (GRCm39) |
S259T |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,739,628 (GRCm39) |
|
probably benign |
Het |
| Manea |
A |
G |
4: 26,336,619 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
T |
C |
1: 9,760,373 (GRCm39) |
H75R |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,153,959 (GRCm39) |
T2384M |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,039,225 (GRCm39) |
I6938T |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,101,697 (GRCm39) |
D412G |
probably benign |
Het |
| Olah |
T |
C |
2: 3,343,979 (GRCm39) |
E211G |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,249,181 (GRCm39) |
L261S |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,834,161 (GRCm39) |
N208K |
possibly damaging |
Het |
| Prrc1 |
T |
A |
18: 57,522,419 (GRCm39) |
M417K |
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,522,424 (GRCm39) |
T543M |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,804,469 (GRCm39) |
V447A |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,035,968 (GRCm39) |
E287G |
probably benign |
Het |
| Rusf1 |
T |
A |
7: 127,875,403 (GRCm39) |
T317S |
possibly damaging |
Het |
| Tec |
A |
G |
5: 72,936,758 (GRCm39) |
|
probably null |
Het |
| Tex26 |
A |
G |
5: 149,380,407 (GRCm39) |
D61G |
probably damaging |
Het |
| Tgfb1i1 |
G |
A |
7: 127,851,734 (GRCm39) |
|
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,436,675 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
| Umod |
C |
T |
7: 119,068,690 (GRCm39) |
G452D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,838,776 (GRCm39) |
T2256I |
possibly damaging |
Het |
| Vmn1r31 |
A |
T |
6: 58,449,778 (GRCm39) |
I29K |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,199 (GRCm39) |
Y403H |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,286,764 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,724 (GRCm39) |
K320M |
possibly damaging |
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 |
|
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 |
Incidental Mutation