Incidental Mutation 'IGL02947:Cpb2'
| ID |
364774 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpb2
|
| Ensembl Gene |
ENSMUSG00000021999 |
| Gene Name |
carboxypeptidase B2 |
| Synonyms |
CPU, CPR, carboxypeptidase U, 1110032P04Rik, TAFI, 4930405E17Rik, thrombin-activatable fibrinolysis inhibitor, carboxypeptidase R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
IGL02947
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
75479727-75520995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 75520758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 391
(Y391S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022576]
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
Q9JHH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022576
AA Change: Y391S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022576
Gene: ENSMUSG00000021999
AA Change: Y391S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Propep_M14
|
28 |
104 |
2.3e-17 |
PFAM |
|
Zn_pept
|
122 |
406 |
2.1e-134 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022577
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
36 |
63 |
4.54e-4 |
SMART |
|
low complexity region
|
136 |
145 |
N/A |
INTRINSIC |
|
coiled coil region
|
162 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
701 |
N/A |
INTRINSIC |
|
coiled coil region
|
706 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
918 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
921 |
948 |
1.8e-6 |
PROSPERO |
|
low complexity region
|
964 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1052 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1218 |
N/A |
INTRINSIC |
|
low complexity region
|
1253 |
1265 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1273 |
1301 |
1.8e-6 |
PROSPERO |
|
low complexity region
|
1325 |
1349 |
N/A |
INTRINSIC |
|
low complexity region
|
1366 |
1391 |
N/A |
INTRINSIC |
|
low complexity region
|
1400 |
1425 |
N/A |
INTRINSIC |
|
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
|
low complexity region
|
1690 |
1697 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226417
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227817
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes carboxypeptidase B, a zinc-dependent metalloprotease that cleaves peptide bonds at the C-terminus of protein substrates. The encoded preproprotein undergoes proteolytic activation to generate a mature, functional enzyme, and secreted into plasma. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice exhibit altered plasma clot lysis and may show reduced bleomycin-induced lung fibrosis, impaired healing of cutaneous wounds and colonic anastomoses, altered glomerular structure, or complement-mediated lethal inflammation after LPS sensitization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,049,957 (GRCm39) |
V13A |
probably benign |
Het |
| Atp8b5 |
T |
A |
4: 43,305,774 (GRCm39) |
I106K |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 123,592,111 (GRCm39) |
S633P |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,723,134 (GRCm39) |
T228A |
probably benign |
Het |
| Cfap90 |
T |
A |
13: 68,759,312 (GRCm39) |
F95L |
probably benign |
Het |
| Chrng |
A |
G |
1: 87,137,606 (GRCm39) |
|
probably null |
Het |
| Coprs |
T |
C |
8: 13,935,782 (GRCm39) |
E79G |
probably damaging |
Het |
| Cyp2j8 |
A |
T |
4: 96,358,815 (GRCm39) |
I368N |
probably damaging |
Het |
| Ddah1 |
T |
C |
3: 145,464,842 (GRCm39) |
F76L |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,261,514 (GRCm39) |
T573A |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,835,411 (GRCm39) |
M375L |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,706,502 (GRCm39) |
E994G |
probably damaging |
Het |
| Fem1a |
T |
A |
17: 56,565,640 (GRCm39) |
C578S |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,936,606 (GRCm39) |
S188P |
probably damaging |
Het |
| Gpn3 |
T |
C |
5: 122,516,551 (GRCm39) |
V60A |
possibly damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,043,690 (GRCm39) |
D59G |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,145,094 (GRCm39) |
E815V |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,487,601 (GRCm39) |
T228M |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 144,930,884 (GRCm39) |
I320M |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,791,234 (GRCm39) |
T437A |
probably damaging |
Het |
| Ltf |
C |
T |
9: 110,868,015 (GRCm39) |
T48I |
probably benign |
Het |
| Masp1 |
T |
G |
16: 23,313,476 (GRCm39) |
D153A |
probably damaging |
Het |
| Mcpt9 |
T |
A |
14: 56,264,373 (GRCm39) |
R241* |
probably null |
Het |
| Msantd4 |
T |
A |
9: 4,384,787 (GRCm39) |
S171T |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,081,382 (GRCm39) |
V1229M |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,179,246 (GRCm39) |
S55P |
probably benign |
Het |
| Oc90 |
T |
C |
15: 65,759,983 (GRCm39) |
K212R |
probably benign |
Het |
| Or2a12 |
A |
G |
6: 42,904,830 (GRCm39) |
I222V |
probably benign |
Het |
| Or5t15 |
C |
T |
2: 86,681,130 (GRCm39) |
R304K |
probably benign |
Het |
| Or6c202 |
C |
A |
10: 128,996,439 (GRCm39) |
C138F |
probably damaging |
Het |
| Prr12 |
T |
A |
7: 44,697,980 (GRCm39) |
Q645L |
unknown |
Het |
| Psmd9 |
A |
G |
5: 123,384,278 (GRCm39) |
I145V |
probably benign |
Het |
| Rbks |
T |
C |
5: 31,817,407 (GRCm39) |
I121V |
probably benign |
Het |
| Rnase2b |
A |
T |
14: 51,400,264 (GRCm39) |
Y115F |
probably damaging |
Het |
| Sarnp |
A |
G |
10: 128,675,723 (GRCm39) |
E78G |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,498,946 (GRCm39) |
S1007G |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,182,759 (GRCm39) |
Y100* |
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,029,720 (GRCm39) |
S222P |
probably benign |
Het |
| Sult3a1 |
G |
A |
10: 33,740,046 (GRCm39) |
R35Q |
possibly damaging |
Het |
| Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
| Tmem53 |
C |
T |
4: 117,125,285 (GRCm39) |
Q111* |
probably null |
Het |
| Togaram1 |
T |
A |
12: 65,068,274 (GRCm39) |
V1709D |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,878,483 (GRCm39) |
D628V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,544,838 (GRCm39) |
K31009* |
probably null |
Het |
| Vldlr |
A |
G |
19: 27,217,120 (GRCm39) |
I58V |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,934,231 (GRCm39) |
F245S |
probably benign |
Het |
| Vrtn |
T |
A |
12: 84,695,258 (GRCm39) |
S3T |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,242,476 (GRCm39) |
|
probably null |
Het |
| Wrnip1 |
T |
A |
13: 33,006,053 (GRCm39) |
Y632N |
probably damaging |
Het |
|
| Other mutations in Cpb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00687:Cpb2
|
APN |
14 |
75,512,533 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL00925:Cpb2
|
APN |
14 |
75,498,190 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01069:Cpb2
|
APN |
14 |
75,508,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01521:Cpb2
|
APN |
14 |
75,495,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Cpb2
|
APN |
14 |
75,520,844 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02961:Cpb2
|
APN |
14 |
75,502,823 (GRCm39) |
missense |
probably benign |
|
|
PIT4677001:Cpb2
|
UTSW |
14 |
75,493,463 (GRCm39) |
missense |
probably benign |
|
|
R0271:Cpb2
|
UTSW |
14 |
75,495,149 (GRCm39) |
splice site |
probably null |
|
|
R0277:Cpb2
|
UTSW |
14 |
75,502,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Cpb2
|
UTSW |
14 |
75,479,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1893:Cpb2
|
UTSW |
14 |
75,493,403 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1926:Cpb2
|
UTSW |
14 |
75,479,837 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2372:Cpb2
|
UTSW |
14 |
75,505,490 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2923:Cpb2
|
UTSW |
14 |
75,493,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3714:Cpb2
|
UTSW |
14 |
75,520,657 (GRCm39) |
splice site |
probably null |
|
|
R5958:Cpb2
|
UTSW |
14 |
75,520,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Cpb2
|
UTSW |
14 |
75,498,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Cpb2
|
UTSW |
14 |
75,495,145 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6495:Cpb2
|
UTSW |
14 |
75,512,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6984:Cpb2
|
UTSW |
14 |
75,502,898 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7211:Cpb2
|
UTSW |
14 |
75,512,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Cpb2
|
UTSW |
14 |
75,493,449 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7444:Cpb2
|
UTSW |
14 |
75,520,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7625:Cpb2
|
UTSW |
14 |
75,509,989 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7784:Cpb2
|
UTSW |
14 |
75,512,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:Cpb2
|
UTSW |
14 |
75,510,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Cpb2
|
UTSW |
14 |
75,515,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Cpb2
|
UTSW |
14 |
75,479,868 (GRCm39) |
splice site |
probably benign |
|
|
R9272:Cpb2
|
UTSW |
14 |
75,520,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9391:Cpb2
|
UTSW |
14 |
75,508,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9409:Cpb2
|
UTSW |
14 |
75,505,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-12-18 |
Incidental Mutation