Incidental Mutation 'R1545:Cpq'
| ID |
172135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpq
|
| Ensembl Gene |
ENSMUSG00000039007 |
| Gene Name |
carboxypeptidase Q |
| Synonyms |
Lal-1, HLS2, Pgcp, 2610034C17Rik, 1190003P12Rik |
| MMRRC Submission |
039584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.808)
|
| Stock # |
R1545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
33083275-33594698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33250146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 168
(I168F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042167]
[ENSMUST00000228737]
[ENSMUST00000228916]
|
| AlphaFold |
Q9WVJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042167
AA Change: I168F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039046
Gene: ENSMUSG00000039007
AA Change: I168F
| 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: ENSMUST00000228737
AA Change: I168F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228916
AA Change: I168F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,641 (GRCm39) |
R410H |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,332,370 (GRCm39) |
C1468R |
probably benign |
Het |
| Actl9 |
T |
A |
17: 33,652,231 (GRCm39) |
I97N |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,006,217 (GRCm39) |
M234K |
probably benign |
Het |
| Bax |
A |
C |
7: 45,111,357 (GRCm39) |
H168Q |
probably null |
Het |
| Brinp1 |
A |
G |
4: 68,681,192 (GRCm39) |
L446P |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,373 (GRCm39) |
|
probably null |
Het |
| Cfap299 |
C |
A |
5: 98,477,291 (GRCm39) |
Q27K |
probably benign |
Het |
| Crkl |
A |
T |
16: 17,301,556 (GRCm39) |
N270I |
probably damaging |
Het |
| Cul7 |
G |
A |
17: 46,962,479 (GRCm39) |
E37K |
probably damaging |
Het |
| Eps15 |
C |
T |
4: 109,169,526 (GRCm39) |
T112I |
probably benign |
Het |
| F5 |
C |
T |
1: 164,036,529 (GRCm39) |
R1897* |
probably null |
Het |
| Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,573,261 (GRCm39) |
S896N |
probably damaging |
Het |
| Gprc5a |
C |
A |
6: 135,060,459 (GRCm39) |
T316K |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,462,019 (GRCm39) |
L2299Q |
possibly damaging |
Het |
| Khdc3 |
C |
G |
9: 73,010,942 (GRCm39) |
P240R |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,906,318 (GRCm39) |
T69A |
probably damaging |
Het |
| Kptn |
C |
G |
7: 15,857,888 (GRCm39) |
Q239E |
probably benign |
Het |
| Lep |
T |
C |
6: 29,070,831 (GRCm39) |
S52P |
probably damaging |
Het |
| Lrig3 |
G |
A |
10: 125,844,416 (GRCm39) |
V627M |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,499,745 (GRCm39) |
K615E |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,061,876 (GRCm39) |
R792C |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,489,717 (GRCm39) |
V58A |
possibly damaging |
Het |
| Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 38,129,111 (GRCm39) |
I375F |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,823,993 (GRCm39) |
T449A |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 101,784,087 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Or8b1b |
C |
A |
9: 38,375,815 (GRCm39) |
H159Q |
probably benign |
Het |
| Otub1 |
T |
C |
19: 7,176,571 (GRCm39) |
I188V |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,186 (GRCm39) |
I722T |
possibly damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,825,646 (GRCm39) |
D292E |
probably damaging |
Het |
| Peli2 |
T |
A |
14: 48,490,174 (GRCm39) |
D215E |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,156,242 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,725 (GRCm39) |
K136R |
possibly damaging |
Het |
| Prpf3 |
T |
C |
3: 95,755,115 (GRCm39) |
K157E |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,336 (GRCm39) |
S160P |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,216,774 (GRCm39) |
V2251A |
probably damaging |
Het |
| Rgs6 |
G |
A |
12: 83,162,951 (GRCm39) |
E386K |
probably damaging |
Het |
| Rida |
A |
G |
15: 34,495,250 (GRCm39) |
I5T |
probably benign |
Het |
| Rpe |
A |
G |
1: 66,740,169 (GRCm39) |
H35R |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,868,771 (GRCm39) |
D321E |
probably benign |
Het |
| Slc22a13 |
G |
A |
9: 119,038,113 (GRCm39) |
A5V |
probably benign |
Het |
| Snta1 |
C |
T |
2: 154,218,926 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
T |
A |
2: 128,437,632 (GRCm39) |
N220K |
probably benign |
Het |
| Sult1c2 |
G |
T |
17: 54,269,176 (GRCm39) |
A280E |
possibly damaging |
Het |
| Tfr2 |
A |
G |
5: 137,581,561 (GRCm39) |
E579G |
probably benign |
Het |
| Tmem221 |
A |
G |
8: 72,011,182 (GRCm39) |
L91P |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,338,317 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,603 (GRCm39) |
R186G |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,565 (GRCm39) |
V253A |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACTCAGTATGCCAGATGTAGCC -3'
(R):5'- AATTAAGGTCAACCAGCGATGTCCC -3'
Sequencing Primer
(F):5'- TATGCCAGATGTAGCCAACAG -3'
(R):5'- ATGTCTTCCTGTTCGTGGAAAAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation