Incidental Mutation 'R4353:Cpb1'
| ID |
327395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpb1
|
| Ensembl Gene |
ENSMUSG00000011463 |
| Gene Name |
carboxypeptidase B1 |
| Synonyms |
0910001A18Rik, 2210008M23Rik, 1810063F02Rik |
| MMRRC Submission |
040866-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4353 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
20302428-20329897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20316708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 281
(T281A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011607]
|
| AlphaFold |
B2RS76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011607
AA Change: T281A
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: T281A
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpk2 |
C |
T |
18: 65,424,523 (GRCm39) |
R1888H |
possibly damaging |
Het |
| Arhgap33 |
C |
A |
7: 30,223,561 (GRCm39) |
V823L |
possibly damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,742,745 (GRCm39) |
I736V |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,926,451 (GRCm39) |
T260A |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,192,437 (GRCm39) |
E433G |
possibly damaging |
Het |
| Bzw2 |
A |
T |
12: 36,173,978 (GRCm39) |
F99I |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
| Coq6 |
G |
A |
12: 84,414,923 (GRCm39) |
G110D |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,514,703 (GRCm39) |
D11G |
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,988,989 (GRCm39) |
Y316C |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,240,474 (GRCm39) |
I74N |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,347,535 (GRCm39) |
L391P |
probably damaging |
Het |
| Dsc2 |
G |
T |
18: 20,183,125 (GRCm39) |
L98I |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 63,000,210 (GRCm39) |
S511T |
probably benign |
Het |
| Dusp2 |
A |
G |
2: 127,179,256 (GRCm39) |
T204A |
probably damaging |
Het |
| Elovl5 |
T |
C |
9: 77,868,199 (GRCm39) |
V37A |
probably benign |
Het |
| Etv1 |
A |
G |
12: 38,907,105 (GRCm39) |
E369G |
probably damaging |
Het |
| Gem |
G |
A |
4: 11,705,939 (GRCm39) |
R9H |
probably damaging |
Het |
| Heg1 |
A |
G |
16: 33,530,847 (GRCm39) |
T108A |
probably benign |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,807,904 (GRCm39) |
V788M |
probably damaging |
Het |
| Kyat3 |
T |
C |
3: 142,437,054 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Meis2 |
A |
G |
2: 115,890,044 (GRCm39) |
M146T |
probably damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Nt5el |
T |
C |
13: 105,255,253 (GRCm39) |
Y445H |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,867,929 (GRCm39) |
|
probably null |
Het |
| Or2h1b |
T |
A |
17: 37,462,228 (GRCm39) |
I58F |
probably damaging |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Poln |
C |
T |
5: 34,286,796 (GRCm39) |
C124Y |
probably benign |
Het |
| Ppp2r2a |
T |
A |
14: 67,266,386 (GRCm39) |
I92L |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rnf130 |
T |
C |
11: 49,978,267 (GRCm39) |
V276A |
possibly damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Scn7a |
T |
A |
2: 66,506,780 (GRCm39) |
M1370L |
probably benign |
Het |
| Sema4b |
C |
A |
7: 79,865,399 (GRCm39) |
L125I |
probably damaging |
Het |
| Slc12a7 |
C |
T |
13: 73,938,853 (GRCm39) |
T210I |
possibly damaging |
Het |
| Sox8 |
A |
C |
17: 25,786,309 (GRCm39) |
*465G |
probably null |
Het |
| Spg11 |
G |
T |
2: 121,943,675 (GRCm39) |
T159K |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,671,966 (GRCm39) |
R889G |
possibly damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,796 (GRCm39) |
S14G |
probably benign |
Het |
| Usp16 |
A |
G |
16: 87,267,242 (GRCm39) |
N211D |
probably damaging |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,677 (GRCm39) |
A113V |
possibly damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,730,219 (GRCm39) |
N92D |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,961,041 (GRCm39) |
S1206P |
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 |
|
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 |
|
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'- TTTCAACACTGAAGTGGTCTCTC -3'
(R):5'- GGGATACTACCTGCCTTCAC -3'
Sequencing Primer
(F):5'- ACTGAAGTGGTCTCTCTCGCATTG -3'
(R):5'- GATACTACCTGCCTTCACAAATATTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation