Incidental Mutation 'IGL02929:Cpb1'
ID |
364002 |
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 # |
IGL02929
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
20302428-20329897 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20329630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 32
(D32G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000011607
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011607]
|
AlphaFold |
B2RS76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000011607
AA Change: D32G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000011607 Gene: ENSMUSG00000011463 AA Change: D32G
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330070K13Rik |
A |
G |
5: 130,413,252 (GRCm39) |
|
probably null |
Het |
Abcb5 |
T |
C |
12: 118,908,674 (GRCm39) |
Y90C |
probably damaging |
Het |
Accs |
T |
C |
2: 93,674,566 (GRCm39) |
D112G |
probably damaging |
Het |
Adam32 |
C |
A |
8: 25,362,659 (GRCm39) |
V13L |
possibly damaging |
Het |
Adgrb3 |
A |
G |
1: 25,592,905 (GRCm39) |
V294A |
probably benign |
Het |
Agt |
G |
T |
8: 125,283,829 (GRCm39) |
A430E |
probably benign |
Het |
Agxt2 |
T |
C |
15: 10,388,379 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
T |
7: 126,056,116 (GRCm39) |
I235N |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
Atrx |
T |
C |
X: 104,923,512 (GRCm39) |
|
probably null |
Het |
Brcc3 |
T |
C |
X: 74,479,105 (GRCm39) |
V117A |
possibly damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,624,105 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
T |
A |
7: 16,892,115 (GRCm39) |
V286D |
probably damaging |
Het |
Cpsf1 |
C |
A |
15: 76,486,327 (GRCm39) |
|
probably null |
Het |
Dnai4 |
C |
T |
4: 102,917,188 (GRCm39) |
W552* |
probably null |
Het |
Dock2 |
A |
T |
11: 34,218,048 (GRCm39) |
V1174E |
probably damaging |
Het |
Dqx1 |
A |
G |
6: 83,037,465 (GRCm39) |
|
probably benign |
Het |
Ercc1 |
T |
C |
7: 19,089,288 (GRCm39) |
|
probably null |
Het |
Fn1 |
A |
G |
1: 71,634,821 (GRCm39) |
|
probably null |
Het |
Garre1 |
A |
T |
7: 33,944,507 (GRCm39) |
M75K |
possibly damaging |
Het |
Ice1 |
A |
G |
13: 70,744,322 (GRCm39) |
L2087P |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,879,838 (GRCm39) |
D612G |
probably damaging |
Het |
Igkv6-25 |
A |
G |
6: 70,192,929 (GRCm39) |
Y112C |
probably damaging |
Het |
Kit |
C |
A |
5: 75,801,429 (GRCm39) |
P572Q |
probably damaging |
Het |
Kras |
A |
G |
6: 145,177,815 (GRCm39) |
|
probably benign |
Het |
Ltv1 |
T |
C |
10: 13,067,970 (GRCm39) |
K6R |
possibly damaging |
Het |
Man1a |
C |
T |
10: 53,801,531 (GRCm39) |
V443I |
probably benign |
Het |
Mat2b |
A |
C |
11: 40,575,540 (GRCm39) |
D154E |
probably benign |
Het |
Mtrf1 |
A |
G |
14: 79,640,273 (GRCm39) |
K143E |
probably benign |
Het |
Myh13 |
A |
C |
11: 67,257,991 (GRCm39) |
I95L |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,127,978 (GRCm39) |
D571E |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,821,119 (GRCm38) |
D28E |
possibly damaging |
Het |
Npm2 |
T |
A |
14: 70,889,678 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Plcb2 |
G |
A |
2: 118,543,715 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,719,810 (GRCm39) |
M368T |
probably benign |
Het |
Rnf123 |
G |
T |
9: 107,946,275 (GRCm39) |
T300K |
probably benign |
Het |
Sbspon |
A |
G |
1: 15,954,069 (GRCm39) |
|
probably benign |
Het |
Slc52a2 |
G |
A |
15: 76,424,776 (GRCm39) |
C338Y |
probably benign |
Het |
Tdrd6 |
T |
A |
17: 43,940,604 (GRCm39) |
Q148L |
possibly damaging |
Het |
Tle5 |
T |
A |
10: 81,400,672 (GRCm39) |
|
probably null |
Het |
Trpc3 |
T |
A |
3: 36,692,623 (GRCm39) |
K790* |
probably null |
Het |
Ushbp1 |
C |
T |
8: 71,847,120 (GRCm39) |
A171T |
probably damaging |
Het |
Usp32 |
T |
C |
11: 84,879,198 (GRCm39) |
T1504A |
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 |
|
IGL01672:Cpb1
|
APN |
3 |
20,329,585 (GRCm39) |
missense |
probably null |
0.34 |
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 |
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 |
2015-12-18 |