Incidental Mutation 'IGL01409:Cpb1'
ID |
79908 |
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 # |
IGL01409
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
20302428-20329897 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20303969 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 365
(Y365F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000011607
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011607]
|
AlphaFold |
B2RS76 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000011607
AA Change: Y365F
PolyPhen 2
Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000011607 Gene: ENSMUSG00000011463 AA Change: Y365F
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
C |
T |
10: 85,494,029 (GRCm39) |
A1049V |
possibly damaging |
Het |
Arhgap26 |
C |
T |
18: 39,243,504 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
T |
C |
2: 153,234,860 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
T |
9: 53,410,471 (GRCm39) |
V1037E |
probably benign |
Het |
Bmp6 |
A |
G |
13: 38,669,865 (GRCm39) |
N383S |
probably damaging |
Het |
Btf3l4 |
A |
C |
4: 108,676,394 (GRCm39) |
S103R |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,587,440 (GRCm39) |
D321G |
probably damaging |
Het |
Col24a1 |
G |
A |
3: 145,244,319 (GRCm39) |
S1531N |
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,762,599 (GRCm39) |
Y238H |
probably damaging |
Het |
Epha6 |
G |
A |
16: 59,476,100 (GRCm39) |
R1089* |
probably null |
Het |
Fga |
T |
C |
3: 82,940,059 (GRCm39) |
F571S |
probably damaging |
Het |
Focad |
A |
G |
4: 88,260,542 (GRCm39) |
T933A |
unknown |
Het |
Gm57858 |
T |
A |
3: 36,080,077 (GRCm39) |
M227L |
possibly damaging |
Het |
Gria2 |
A |
G |
3: 80,615,004 (GRCm39) |
|
probably null |
Het |
Hnrnpul1 |
T |
C |
7: 25,424,077 (GRCm39) |
N725S |
unknown |
Het |
Ik |
A |
T |
18: 36,889,974 (GRCm39) |
K534N |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,196,525 (GRCm39) |
T631A |
probably benign |
Het |
Kcnip1 |
G |
T |
11: 33,580,593 (GRCm39) |
D214E |
probably benign |
Het |
Kcnk10 |
A |
T |
12: 98,456,322 (GRCm39) |
Y170N |
probably damaging |
Het |
Lalba |
A |
G |
15: 98,379,948 (GRCm39) |
|
probably null |
Het |
Ly75 |
A |
T |
2: 60,152,036 (GRCm39) |
|
probably null |
Het |
Myh10 |
T |
C |
11: 68,698,045 (GRCm39) |
L1629P |
probably damaging |
Het |
Myo15b |
C |
A |
11: 115,760,330 (GRCm39) |
C1127* |
probably null |
Het |
Neurl4 |
T |
G |
11: 69,797,925 (GRCm39) |
N728K |
probably damaging |
Het |
Nrxn3 |
T |
A |
12: 89,477,128 (GRCm39) |
F801Y |
probably damaging |
Het |
Nup214 |
G |
T |
2: 31,916,943 (GRCm39) |
|
probably null |
Het |
Obscn |
G |
A |
11: 58,921,884 (GRCm39) |
R6624C |
probably damaging |
Het |
Or2g1 |
T |
C |
17: 38,106,413 (GRCm39) |
F26S |
probably damaging |
Het |
Pdk1 |
A |
G |
2: 71,726,123 (GRCm39) |
T344A |
probably benign |
Het |
Pitx2 |
C |
A |
3: 129,008,413 (GRCm39) |
S63Y |
probably damaging |
Het |
Ppara |
A |
C |
15: 85,661,844 (GRCm39) |
L28F |
probably damaging |
Het |
Rad54l |
G |
A |
4: 115,963,074 (GRCm39) |
T308I |
probably damaging |
Het |
Sbds |
T |
C |
5: 130,282,907 (GRCm39) |
E7G |
probably damaging |
Het |
Slc22a19 |
T |
C |
19: 7,688,495 (GRCm39) |
I22V |
probably benign |
Het |
Slfn10-ps |
T |
C |
11: 82,926,322 (GRCm39) |
|
noncoding transcript |
Het |
Spag4 |
T |
C |
2: 155,911,252 (GRCm39) |
S396P |
possibly damaging |
Het |
Spef2 |
C |
A |
15: 9,716,499 (GRCm39) |
L362F |
probably damaging |
Het |
Srebf2 |
A |
G |
15: 82,055,419 (GRCm39) |
T208A |
probably damaging |
Het |
Ssc5d |
A |
G |
7: 4,945,808 (GRCm39) |
T947A |
probably benign |
Het |
Tdp1 |
T |
C |
12: 99,875,940 (GRCm39) |
I297T |
possibly damaging |
Het |
Tent5c |
A |
T |
3: 100,380,485 (GRCm39) |
D90E |
probably damaging |
Het |
Tsen2 |
T |
C |
6: 115,536,555 (GRCm39) |
Y104H |
possibly damaging |
Het |
Was |
G |
A |
X: 7,954,055 (GRCm39) |
R229C |
probably damaging |
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 |
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 |
2013-11-05 |