Incidental Mutation 'IGL00896:Cpb1'
| ID |
27059 |
| 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 # |
IGL00896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
20302428-20329897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20306193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 329
(V329A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011607]
|
| AlphaFold |
B2RS76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011607
AA Change: V329A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: V329A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125945
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
G |
12: 113,509,030 (GRCm39) |
T468A |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,591,592 (GRCm39) |
E626G |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,850,777 (GRCm39) |
Y1812C |
possibly damaging |
Het |
| Aurkc |
T |
C |
7: 7,005,513 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,093,611 (GRCm39) |
T4352A |
probably benign |
Het |
| Cyp2d11 |
G |
T |
15: 82,275,275 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
G |
A |
16: 3,857,076 (GRCm39) |
S28N |
probably benign |
Het |
| Drgx |
C |
T |
14: 32,327,171 (GRCm39) |
|
probably benign |
Het |
| Evpl |
C |
A |
11: 116,113,410 (GRCm39) |
E1427* |
probably null |
Het |
| Gimap6 |
T |
C |
6: 48,679,394 (GRCm39) |
N214S |
probably benign |
Het |
| Htr1f |
A |
T |
16: 64,746,469 (GRCm39) |
H274Q |
probably benign |
Het |
| Ipo9 |
A |
T |
1: 135,327,797 (GRCm39) |
V538E |
probably damaging |
Het |
| Lmf2 |
T |
C |
15: 89,237,539 (GRCm39) |
K308E |
probably benign |
Het |
| Mog |
T |
A |
17: 37,328,377 (GRCm39) |
|
probably null |
Het |
| Myo19 |
T |
C |
11: 84,800,324 (GRCm39) |
V903A |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,876,885 (GRCm39) |
T179A |
unknown |
Het |
| Nckap1 |
C |
T |
2: 80,411,297 (GRCm39) |
V5M |
possibly damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,167 (GRCm39) |
N286S |
probably damaging |
Het |
| Or51l4 |
T |
C |
7: 103,404,213 (GRCm39) |
D193G |
probably damaging |
Het |
| Or9a2 |
A |
T |
6: 41,749,047 (GRCm39) |
L62Q |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,455,838 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
C |
A |
8: 41,729,160 (GRCm39) |
Q711K |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,353,864 (GRCm39) |
D63G |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,224,609 (GRCm39) |
M711V |
possibly damaging |
Het |
| Rev1 |
G |
A |
1: 38,138,021 (GRCm39) |
T88I |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,665,634 (GRCm39) |
|
probably null |
Het |
| Sult2a1 |
T |
A |
7: 13,566,565 (GRCm39) |
T137S |
probably benign |
Het |
| Txndc15 |
G |
A |
13: 55,873,488 (GRCm39) |
A283T |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,069 (GRCm39) |
E785G |
probably damaging |
Het |
|
| Other mutations in Cpb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation