Incidental Mutation 'R4405:Cpb1'
| ID |
327594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpb1
|
| Ensembl Gene |
ENSMUSG00000011463 |
| Gene Name |
carboxypeptidase B1 |
| Synonyms |
0910001A18Rik, 2210008M23Rik, 1810063F02Rik |
| MMRRC Submission |
041134-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4405 (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 A
at 20317733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 237
(T237S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011607]
|
| AlphaFold |
B2RS76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011607
AA Change: T237S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000011607
Gene: ENSMUSG00000011463
AA Change: T237S
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
C |
T |
8: 95,763,536 (GRCm39) |
A279V |
probably benign |
Het |
| Aggf1 |
G |
A |
13: 95,508,102 (GRCm39) |
P88L |
probably benign |
Het |
| Asb18 |
T |
C |
1: 89,896,411 (GRCm39) |
T210A |
probably benign |
Het |
| Cd8b1 |
C |
T |
6: 71,303,006 (GRCm39) |
S27L |
possibly damaging |
Het |
| Cfap43 |
C |
T |
19: 47,728,236 (GRCm39) |
S1507N |
possibly damaging |
Het |
| Col12a1 |
A |
T |
9: 79,547,247 (GRCm39) |
|
probably null |
Het |
| Col19a1 |
G |
A |
1: 24,573,190 (GRCm39) |
T194M |
unknown |
Het |
| Cubn |
G |
A |
2: 13,470,841 (GRCm39) |
T517M |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,106,274 (GRCm39) |
N1769S |
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,225,984 (GRCm39) |
I365T |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,668,823 (GRCm39) |
D238E |
probably benign |
Het |
| Etv6 |
A |
G |
6: 134,210,497 (GRCm39) |
E115G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,618,747 (GRCm39) |
V209I |
probably damaging |
Het |
| Gbp8 |
G |
A |
5: 105,198,928 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Grb14 |
T |
C |
2: 64,783,966 (GRCm39) |
N54D |
probably damaging |
Het |
| Gucy2g |
A |
T |
19: 55,226,269 (GRCm39) |
F216I |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,820,225 (GRCm39) |
L2849Q |
probably damaging |
Het |
| Hsd17b4 |
G |
T |
18: 50,261,381 (GRCm39) |
|
probably benign |
Het |
| Igkv9-129 |
T |
A |
6: 67,816,784 (GRCm39) |
M3K |
probably damaging |
Het |
| Iqcd |
A |
T |
5: 120,740,485 (GRCm39) |
E272V |
probably damaging |
Het |
| Itih2 |
A |
T |
2: 10,111,548 (GRCm39) |
Y463* |
probably null |
Het |
| Kcna10 |
G |
A |
3: 107,102,781 (GRCm39) |
E471K |
possibly damaging |
Het |
| Klf3 |
A |
T |
5: 64,986,347 (GRCm39) |
E294V |
possibly damaging |
Het |
| Lancl1 |
A |
T |
1: 67,060,015 (GRCm39) |
|
probably null |
Het |
| Ldaf1 |
T |
G |
7: 119,714,714 (GRCm39) |
F68V |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,846,877 (GRCm39) |
F882L |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,046,367 (GRCm39) |
N474S |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,922,444 (GRCm39) |
|
probably null |
Het |
| Mast1 |
C |
A |
8: 85,647,520 (GRCm39) |
W572C |
probably damaging |
Het |
| Mbd4 |
T |
A |
6: 115,826,076 (GRCm39) |
Q305L |
possibly damaging |
Het |
| Mbl2 |
T |
A |
19: 30,216,916 (GRCm39) |
S243T |
probably benign |
Het |
| Mcph1 |
C |
T |
8: 18,682,557 (GRCm39) |
P565S |
probably benign |
Het |
| Mfsd1 |
G |
C |
3: 67,507,943 (GRCm39) |
V435L |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,360,881 (GRCm39) |
G1183D |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Noa1 |
A |
T |
5: 77,454,219 (GRCm39) |
S474T |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,096,843 (GRCm39) |
Y986H |
probably benign |
Het |
| Oca2 |
G |
T |
7: 56,064,182 (GRCm39) |
V726F |
possibly damaging |
Het |
| Or2ag13 |
T |
A |
7: 106,472,580 (GRCm39) |
S291C |
probably damaging |
Het |
| Or7a41 |
A |
T |
10: 78,871,244 (GRCm39) |
M205L |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,975,370 (GRCm39) |
|
probably null |
Het |
| Plekhn1 |
A |
T |
4: 156,309,730 (GRCm39) |
|
probably null |
Het |
| Sec61a2 |
T |
C |
2: 5,887,670 (GRCm39) |
D104G |
probably benign |
Het |
| Skic3 |
A |
T |
13: 76,303,784 (GRCm39) |
Y1234F |
probably damaging |
Het |
| Slc25a36 |
T |
C |
9: 96,967,171 (GRCm39) |
T131A |
probably benign |
Het |
| Slc5a11 |
A |
T |
7: 122,857,700 (GRCm39) |
D263V |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,384,189 (GRCm39) |
I35V |
probably benign |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,013 (GRCm39) |
V64A |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,042 (GRCm39) |
M123V |
probably benign |
Het |
| Zwint |
T |
C |
10: 72,492,095 (GRCm39) |
L59P |
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 |
|
R4353:Cpb1
|
UTSW |
3 |
20,316,708 (GRCm39) |
missense |
probably benign |
0.07 |
|
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'- AGATTGCATCAGGTGTGTCAG -3'
(R):5'- CGACTTCTTGACGAACTGGAC -3'
Sequencing Primer
(F):5'- TCTAGGAACACAACACAGAACTTGG -3'
(R):5'- GACGAACTGGACTTTTATGTTCTGCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation