Incidental Mutation 'R6636:Proc'
| ID |
525499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Proc
|
| Ensembl Gene |
ENSMUSG00000024386 |
| Gene Name |
protein C |
| Synonyms |
inactivator of coagulation factors Va, VIII, PC |
| MMRRC Submission |
044757-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6636 (G1)
|
| Quality Score |
193.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
32256179-32272623 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32256813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 285
(I285F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171765]
|
| AlphaFold |
P33587 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171765
AA Change: I285F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: I285F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
GLA
|
24 |
86 |
6.66e-30 |
SMART |
|
EGF_CA
|
87 |
131 |
1.25e-6 |
SMART |
|
EGF
|
138 |
175 |
3.62e-3 |
SMART |
|
low complexity region
|
201 |
210 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
211 |
444 |
2.6e-82 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: This gene encodes the vitamin K-dependent protein C, which plays a vital role in the anticoagulation pathway. The encoded protein undergoes proteolytic processing including activation by thrombin-thrombomodulin complex to form the anticoagulant serine protease that degrades activated coagulation factors. A complete lack of the encoded protein in mice results in severe perinatal consumptive coagulopathy in the brain and liver, resulting in death within 24 hours after birth. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,659,251 (GRCm39) |
V513A |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| AY761185 |
T |
A |
8: 21,434,556 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,828,013 (GRCm39) |
D68G |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,985,259 (GRCm39) |
I308F |
probably damaging |
Het |
| Coq8a |
A |
T |
1: 180,006,552 (GRCm39) |
S112T |
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fryl |
C |
A |
5: 73,290,655 (GRCm39) |
R83L |
probably benign |
Het |
| Gm4861 |
C |
T |
3: 137,256,760 (GRCm39) |
|
probably null |
Het |
| Gnai1 |
T |
C |
5: 18,478,472 (GRCm39) |
D231G |
probably damaging |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Hgd |
A |
G |
16: 37,435,736 (GRCm39) |
N149S |
possibly damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 27,000,564 (GRCm39) |
V1653L |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,117,721 (GRCm39) |
I947N |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Nmbr |
T |
C |
10: 14,645,978 (GRCm39) |
S168P |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,807,324 (GRCm39) |
T168A |
probably benign |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,831 (GRCm39) |
F13S |
probably benign |
Het |
| Pde1c |
A |
C |
6: 56,157,087 (GRCm39) |
V191G |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Spp1 |
T |
C |
5: 104,588,396 (GRCm39) |
V267A |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,247 (GRCm39) |
Y244N |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Tmcc3 |
T |
A |
10: 94,414,286 (GRCm39) |
V27E |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,261,035 (GRCm39) |
A1061V |
probably damaging |
Het |
| Ttll1 |
C |
G |
15: 83,384,147 (GRCm39) |
W160S |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,796,075 (GRCm39) |
F197I |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,540 (GRCm39) |
Y141H |
probably benign |
Het |
|
| Other mutations in Proc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Proc
|
APN |
18 |
32,256,566 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01071:Proc
|
APN |
18 |
32,256,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01287:Proc
|
APN |
18 |
32,256,873 (GRCm39) |
splice site |
probably benign |
|
|
IGL01298:Proc
|
APN |
18 |
32,256,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01898:Proc
|
APN |
18 |
32,266,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01977:Proc
|
APN |
18 |
32,260,472 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02040:Proc
|
APN |
18 |
32,267,913 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02724:Proc
|
APN |
18 |
32,267,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02852:Proc
|
APN |
18 |
32,258,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Proc
|
APN |
18 |
32,256,678 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03401:Proc
|
APN |
18 |
32,256,326 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0110:Proc
|
UTSW |
18 |
32,258,171 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0131:Proc
|
UTSW |
18 |
32,268,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0510:Proc
|
UTSW |
18 |
32,258,171 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0988:Proc
|
UTSW |
18 |
32,266,536 (GRCm39) |
missense |
probably benign |
|
|
R1455:Proc
|
UTSW |
18 |
32,256,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Proc
|
UTSW |
18 |
32,266,491 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1546:Proc
|
UTSW |
18 |
32,260,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Proc
|
UTSW |
18 |
32,260,459 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3414:Proc
|
UTSW |
18 |
32,256,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3911:Proc
|
UTSW |
18 |
32,256,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Proc
|
UTSW |
18 |
32,268,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4598:Proc
|
UTSW |
18 |
32,256,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Proc
|
UTSW |
18 |
32,260,526 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4758:Proc
|
UTSW |
18 |
32,256,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4941:Proc
|
UTSW |
18 |
32,258,166 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5917:Proc
|
UTSW |
18 |
32,260,513 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6349:Proc
|
UTSW |
18 |
32,266,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6735:Proc
|
UTSW |
18 |
32,256,701 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7110:Proc
|
UTSW |
18 |
32,266,441 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7310:Proc
|
UTSW |
18 |
32,268,952 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7409:Proc
|
UTSW |
18 |
32,260,513 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7597:Proc
|
UTSW |
18 |
32,256,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Proc
|
UTSW |
18 |
32,268,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7604:Proc
|
UTSW |
18 |
32,267,831 (GRCm39) |
splice site |
probably null |
|
|
R7738:Proc
|
UTSW |
18 |
32,260,532 (GRCm39) |
nonsense |
probably null |
|
|
R7921:Proc
|
UTSW |
18 |
32,256,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Proc
|
UTSW |
18 |
32,256,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Proc
|
UTSW |
18 |
32,268,950 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9382:Proc
|
UTSW |
18 |
32,256,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9690:Proc
|
UTSW |
18 |
32,256,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Proc
|
UTSW |
18 |
32,256,560 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Proc
|
UTSW |
18 |
32,268,032 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGATAGCCCCAGCCTGTC -3'
(R):5'- ACAGGAGTCTCTGGCTTCTCTG -3'
Sequencing Primer
(F):5'- CCAGCCTGTCACCACTG -3'
(R):5'- AATTCTGGGAGCAGGCTAGTCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation