Incidental Mutation 'R0676:Cpb1'
| ID |
201522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpb1
|
| Ensembl Gene |
ENSMUSG00000011463 |
| Gene Name |
carboxypeptidase B1 |
| Synonyms |
0910001A18Rik, 2210008M23Rik, 1810063F02Rik |
| MMRRC Submission |
038861-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0676 (G1)
|
| Quality Score |
57 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
20302428-20329897 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 20320697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011607]
|
| AlphaFold |
B2RS76 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000011607
|
| SMART Domains |
Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
| 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: ENSMUST00000137855
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (52/52) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,112,516 (GRCm39) |
|
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,879 (GRCm39) |
|
probably null |
Het |
| B3galnt2 |
T |
C |
13: 14,170,378 (GRCm39) |
S243P |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
| Crot |
A |
C |
5: 9,043,622 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
C |
10: 64,245,040 (GRCm39) |
H451P |
probably benign |
Het |
| Cts6 |
C |
T |
13: 61,345,298 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,586,063 (GRCm39) |
T540A |
probably damaging |
Het |
| Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,374,169 (GRCm39) |
Y466N |
probably damaging |
Het |
| Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
| H4c9 |
T |
C |
13: 22,225,276 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
| Klb |
A |
T |
5: 65,536,398 (GRCm39) |
D576V |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,944,729 (GRCm39) |
R627H |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,269,996 (GRCm39) |
K740E |
probably damaging |
Het |
| Mapk9 |
T |
C |
11: 49,773,983 (GRCm39) |
*382Q |
probably null |
Het |
| Mn1 |
A |
G |
5: 111,568,900 (GRCm39) |
S957G |
possibly damaging |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,412 (GRCm39) |
M28L |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,555,749 (GRCm39) |
I913V |
probably benign |
Het |
| Nolc1 |
T |
A |
19: 46,068,528 (GRCm39) |
|
probably benign |
Het |
| Pde4dip |
A |
C |
3: 97,624,413 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
C |
T |
5: 53,803,390 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,555,047 (GRCm39) |
I387T |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
| Scarb1 |
C |
A |
5: 125,374,278 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,876,458 (GRCm39) |
|
probably benign |
Het |
| Slc22a23 |
G |
A |
13: 34,379,462 (GRCm39) |
T435I |
probably damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,773,509 (GRCm39) |
|
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,750,733 (GRCm39) |
I114V |
probably benign |
Het |
| Tbc1d8b |
A |
G |
X: 138,613,025 (GRCm39) |
S284G |
possibly damaging |
Het |
| Tmem131l |
C |
T |
3: 83,842,122 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
C |
T |
17: 23,565,238 (GRCm39) |
S375F |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACATTGTTGGTTAAACTCCCATGC -3'
(R):5'- GGAAGATTCCATCTTACTCATGCCCC -3'
Sequencing Primer
(F):5'- TGCCAGCAAAATGTATCAGAATCAG -3'
(R):5'- GCCTCACTTTTTGTGATTGATACCAG -3'
|
| Posted On |
2014-06-19 |
Incidental Mutation