Incidental Mutation 'IGL01672:Cpb1'
| ID |
103512 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpb1
|
| Ensembl Gene |
ENSMUSG00000011463 |
| Gene Name |
carboxypeptidase B1 |
| Synonyms |
0910001A18Rik, 2210008M23Rik, 1810063F02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
20302428-20329897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20329585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 47
(Q47L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011607]
|
| AlphaFold |
B2RS76 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000011607
AA Change: Q47L
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: Q47L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:Propep_M14
|
26 |
102 |
2.4e-19 |
PFAM |
|
Zn_pept
|
117 |
398 |
2.08e-147 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,618,316 (GRCm39) |
E203G |
probably damaging |
Het |
| Ano1 |
G |
T |
7: 144,209,412 (GRCm39) |
Q206K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,894,109 (GRCm39) |
S620T |
probably damaging |
Het |
| Arfip1 |
A |
T |
3: 84,455,339 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 59,928,982 (GRCm39) |
M1024K |
probably benign |
Het |
| Brap |
T |
C |
5: 121,816,908 (GRCm39) |
|
probably benign |
Het |
| Calcrl |
T |
A |
2: 84,175,414 (GRCm39) |
T287S |
probably damaging |
Het |
| Clptm1l |
G |
A |
13: 73,755,992 (GRCm39) |
|
probably null |
Het |
| Cse1l |
T |
C |
2: 166,771,887 (GRCm39) |
I402T |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,932,986 (GRCm39) |
S3591P |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,264,774 (GRCm39) |
I2322S |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,118,884 (GRCm39) |
R2194* |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,814,041 (GRCm39) |
V1355A |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,931,977 (GRCm39) |
N30S |
possibly damaging |
Het |
| Ero1a |
A |
C |
14: 45,529,887 (GRCm39) |
S349A |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,493,737 (GRCm39) |
T3938I |
probably benign |
Het |
| Focad |
T |
C |
4: 88,278,827 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
A |
T |
3: 108,016,775 (GRCm39) |
I343N |
probably damaging |
Het |
| Golph3 |
T |
C |
15: 12,349,643 (GRCm39) |
V221A |
probably benign |
Het |
| Gpr153 |
C |
A |
4: 152,364,370 (GRCm39) |
S142* |
probably null |
Het |
| Itpr1 |
C |
A |
6: 108,357,993 (GRCm39) |
Y557* |
probably null |
Het |
| Nat8f5 |
A |
G |
6: 85,794,934 (GRCm39) |
Y9H |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,429,650 (GRCm39) |
V1045A |
possibly damaging |
Het |
| Nol8 |
T |
C |
13: 49,828,883 (GRCm39) |
V1047A |
possibly damaging |
Het |
| Or2t48 |
A |
C |
11: 58,419,948 (GRCm39) |
L288R |
probably benign |
Het |
| Or5p1 |
T |
A |
7: 107,916,725 (GRCm39) |
V208E |
probably benign |
Het |
| Osbpl1a |
G |
A |
18: 12,899,881 (GRCm39) |
T178I |
probably damaging |
Het |
| Palld |
T |
A |
8: 62,330,536 (GRCm39) |
I114F |
probably benign |
Het |
| Pcca |
A |
T |
14: 122,927,557 (GRCm39) |
Y440F |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
T |
C |
5: 128,827,037 (GRCm39) |
M599T |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,807,471 (GRCm39) |
Y189F |
possibly damaging |
Het |
| Plscr3 |
A |
G |
11: 69,738,508 (GRCm39) |
K91R |
possibly damaging |
Het |
| Rars1 |
A |
T |
11: 35,699,380 (GRCm39) |
C638S |
probably damaging |
Het |
| Relb |
T |
A |
7: 19,345,619 (GRCm39) |
H406L |
probably benign |
Het |
| Ros1 |
G |
T |
10: 51,977,899 (GRCm39) |
T1449K |
possibly damaging |
Het |
| Samd3 |
A |
T |
10: 26,146,067 (GRCm39) |
N364I |
possibly damaging |
Het |
| Scn2a |
T |
A |
2: 65,582,278 (GRCm39) |
I1542N |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 142,170,930 (GRCm39) |
M1931K |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,361,077 (GRCm39) |
D309G |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,889,986 (GRCm39) |
S825P |
probably damaging |
Het |
| Swt1 |
C |
T |
1: 151,270,359 (GRCm39) |
|
probably null |
Het |
| Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,338,846 (GRCm39) |
H362Q |
probably benign |
Het |
| Zfp451 |
C |
A |
1: 33,801,247 (GRCm39) |
M1056I |
probably benign |
Het |
| Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
Het |
|
| Other mutations in Cpb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Cpb1
|
APN |
3 |
20,306,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01061:Cpb1
|
APN |
3 |
20,320,680 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01376:Cpb1
|
APN |
3 |
20,324,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01409:Cpb1
|
APN |
3 |
20,303,969 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01505:Cpb1
|
APN |
3 |
20,320,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:Cpb1
|
APN |
3 |
20,306,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02421:Cpb1
|
APN |
3 |
20,306,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02685:Cpb1
|
APN |
3 |
20,319,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02825:Cpb1
|
APN |
3 |
20,303,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02929:Cpb1
|
APN |
3 |
20,329,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03229:Cpb1
|
APN |
3 |
20,304,001 (GRCm39) |
nonsense |
probably null |
|
|
R0106:Cpb1
|
UTSW |
3 |
20,320,697 (GRCm39) |
splice site |
probably null |
|
|
R0106:Cpb1
|
UTSW |
3 |
20,320,697 (GRCm39) |
splice site |
probably null |
|
|
R0485:Cpb1
|
UTSW |
3 |
20,329,792 (GRCm39) |
missense |
unknown |
|
|
R0609:Cpb1
|
UTSW |
3 |
20,316,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:Cpb1
|
UTSW |
3 |
20,303,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0676:Cpb1
|
UTSW |
3 |
20,320,697 (GRCm39) |
splice site |
probably null |
|
|
R0829:Cpb1
|
UTSW |
3 |
20,306,107 (GRCm39) |
splice site |
probably benign |
|
|
R0981:Cpb1
|
UTSW |
3 |
20,329,654 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1496:Cpb1
|
UTSW |
3 |
20,317,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1535:Cpb1
|
UTSW |
3 |
20,320,451 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1607:Cpb1
|
UTSW |
3 |
20,317,946 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1707:Cpb1
|
UTSW |
3 |
20,329,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1753:Cpb1
|
UTSW |
3 |
20,320,405 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1866:Cpb1
|
UTSW |
3 |
20,317,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2177:Cpb1
|
UTSW |
3 |
20,320,611 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2234:Cpb1
|
UTSW |
3 |
20,329,629 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3110:Cpb1
|
UTSW |
3 |
20,319,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Cpb1
|
UTSW |
3 |
20,319,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Cpb1
|
UTSW |
3 |
20,316,708 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4405:Cpb1
|
UTSW |
3 |
20,317,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4485:Cpb1
|
UTSW |
3 |
20,303,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4734:Cpb1
|
UTSW |
3 |
20,317,876 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4984:Cpb1
|
UTSW |
3 |
20,324,516 (GRCm39) |
frame shift |
probably null |
|
|
R5807:Cpb1
|
UTSW |
3 |
20,317,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6377:Cpb1
|
UTSW |
3 |
20,329,748 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6441:Cpb1
|
UTSW |
3 |
20,303,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7175:Cpb1
|
UTSW |
3 |
20,317,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7488:Cpb1
|
UTSW |
3 |
20,324,488 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8288:Cpb1
|
UTSW |
3 |
20,319,531 (GRCm39) |
nonsense |
probably null |
|
|
R9260:Cpb1
|
UTSW |
3 |
20,316,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Cpb1
|
UTSW |
3 |
20,320,697 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation