Incidental Mutation 'R1308:Pros1'
ID |
157863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pros1
|
Ensembl Gene |
ENSMUSG00000022912 |
Gene Name |
protein S (alpha) |
Synonyms |
protein S |
MMRRC Submission |
039374-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1308 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
62674670-62749709 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 62734228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 345
(D345N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023629]
|
AlphaFold |
Q08761 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023629
AA Change: D345N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023629 Gene: ENSMUSG00000022912 AA Change: D345N
Domain | Start | End | E-Value | Type |
GLA
|
23 |
86 |
3.63e-31 |
SMART |
EGF
|
120 |
155 |
4.39e-2 |
SMART |
EGF_CA
|
157 |
200 |
6.91e-9 |
SMART |
EGF_CA
|
201 |
242 |
5.23e-9 |
SMART |
EGF_CA
|
243 |
283 |
1.1e-7 |
SMART |
LamG
|
321 |
458 |
8.55e-22 |
SMART |
LamG
|
506 |
646 |
1.57e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a vitamin K-dependent protein with key roles in multiple biological processes including coagulation, apoptosis and vasculogenesis. The encoded protein undergoes proteolytic processing to generate a mature protein which is secreted into the plasma. Mice lacking the encoded protein die in utero from a fulminant coagulopathy and associated hemorrhages. [provided by RefSeq, Oct 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with thrombosis, hemorrhage, and thrombocytopenia. [provided by MGI curators]
|
Allele List at MGI |
All alleles(5) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(2) |
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt2 |
C |
T |
8: 18,742,134 (GRCm39) |
W474* |
probably null |
Het |
Cln6 |
A |
G |
9: 62,758,143 (GRCm39) |
T301A |
probably damaging |
Het |
G6pc2 |
A |
T |
2: 69,050,570 (GRCm39) |
D65V |
probably damaging |
Het |
Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
Jph1 |
A |
G |
1: 17,161,918 (GRCm39) |
I248T |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,026,564 (GRCm39) |
L230P |
probably damaging |
Het |
Lmnb1 |
A |
G |
18: 56,861,547 (GRCm39) |
K146R |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,973,126 (GRCm39) |
S395P |
probably damaging |
Het |
Myo6 |
G |
A |
9: 80,152,996 (GRCm39) |
V210I |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Otoa |
C |
A |
7: 120,724,666 (GRCm39) |
C448* |
probably null |
Het |
Pate6 |
T |
C |
9: 35,700,385 (GRCm39) |
T67A |
probably benign |
Het |
Prkcg |
G |
C |
7: 3,377,622 (GRCm39) |
K525N |
probably damaging |
Het |
Prss47 |
T |
C |
13: 65,199,630 (GRCm39) |
H83R |
probably benign |
Het |
R3hdml |
G |
T |
2: 163,344,319 (GRCm39) |
C236F |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syt12 |
A |
T |
19: 4,510,763 (GRCm39) |
V37E |
probably damaging |
Het |
Tekt2 |
A |
T |
4: 126,218,711 (GRCm39) |
L14H |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,781,982 (GRCm39) |
F857S |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,148,646 (GRCm39) |
T116A |
probably damaging |
Het |
|
Other mutations in Pros1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00937:Pros1
|
APN |
16 |
62,730,408 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01300:Pros1
|
APN |
16 |
62,734,174 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02709:Pros1
|
APN |
16 |
62,719,308 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03080:Pros1
|
APN |
16 |
62,738,506 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03095:Pros1
|
APN |
16 |
62,728,132 (GRCm39) |
nonsense |
probably null |
|
F6893:Pros1
|
UTSW |
16 |
62,745,002 (GRCm39) |
missense |
probably damaging |
0.98 |
R0124:Pros1
|
UTSW |
16 |
62,734,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0517:Pros1
|
UTSW |
16 |
62,723,881 (GRCm39) |
missense |
probably benign |
0.03 |
R1113:Pros1
|
UTSW |
16 |
62,734,228 (GRCm39) |
missense |
probably damaging |
0.99 |
R1355:Pros1
|
UTSW |
16 |
62,739,921 (GRCm39) |
missense |
probably benign |
0.23 |
R1370:Pros1
|
UTSW |
16 |
62,739,921 (GRCm39) |
missense |
probably benign |
0.23 |
R1517:Pros1
|
UTSW |
16 |
62,705,875 (GRCm39) |
missense |
probably damaging |
0.98 |
R1866:Pros1
|
UTSW |
16 |
62,748,498 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1876:Pros1
|
UTSW |
16 |
62,723,881 (GRCm39) |
missense |
probably damaging |
0.96 |
R2255:Pros1
|
UTSW |
16 |
62,723,935 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2364:Pros1
|
UTSW |
16 |
62,734,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R2369:Pros1
|
UTSW |
16 |
62,748,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R2979:Pros1
|
UTSW |
16 |
62,734,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R3724:Pros1
|
UTSW |
16 |
62,720,692 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4056:Pros1
|
UTSW |
16 |
62,721,008 (GRCm39) |
nonsense |
probably null |
|
R4556:Pros1
|
UTSW |
16 |
62,721,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4688:Pros1
|
UTSW |
16 |
62,709,370 (GRCm39) |
critical splice donor site |
probably null |
|
R4850:Pros1
|
UTSW |
16 |
62,705,887 (GRCm39) |
missense |
probably damaging |
0.98 |
R4923:Pros1
|
UTSW |
16 |
62,723,935 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5008:Pros1
|
UTSW |
16 |
62,748,548 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5370:Pros1
|
UTSW |
16 |
62,734,339 (GRCm39) |
missense |
probably benign |
0.01 |
R5580:Pros1
|
UTSW |
16 |
62,746,689 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5930:Pros1
|
UTSW |
16 |
62,748,424 (GRCm39) |
missense |
probably damaging |
0.96 |
R5974:Pros1
|
UTSW |
16 |
62,721,030 (GRCm39) |
missense |
probably damaging |
0.98 |
R6233:Pros1
|
UTSW |
16 |
62,719,284 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6949:Pros1
|
UTSW |
16 |
62,744,938 (GRCm39) |
missense |
probably benign |
0.01 |
R7055:Pros1
|
UTSW |
16 |
62,748,465 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7347:Pros1
|
UTSW |
16 |
62,739,886 (GRCm39) |
missense |
probably damaging |
0.97 |
R7375:Pros1
|
UTSW |
16 |
62,744,913 (GRCm39) |
missense |
probably damaging |
0.96 |
R7419:Pros1
|
UTSW |
16 |
62,748,433 (GRCm39) |
nonsense |
probably null |
|
R7980:Pros1
|
UTSW |
16 |
62,748,516 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8234:Pros1
|
UTSW |
16 |
62,748,540 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8479:Pros1
|
UTSW |
16 |
62,728,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R8514:Pros1
|
UTSW |
16 |
62,730,472 (GRCm39) |
missense |
probably benign |
0.03 |
R8827:Pros1
|
UTSW |
16 |
62,746,827 (GRCm39) |
missense |
probably benign |
0.13 |
R9131:Pros1
|
UTSW |
16 |
62,748,397 (GRCm39) |
missense |
probably damaging |
0.96 |
R9484:Pros1
|
UTSW |
16 |
62,744,887 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCGTATAGTACCGTTTGCCAGTCC -3'
(R):5'- TGATTCCTGACCTAAAGGGGAGACC -3'
Sequencing Primer
(F):5'- TGCCAGTCCAAGGTGTGAG -3'
(R):5'- GGGGAGACCCCATAATTCAC -3'
|
Posted On |
2014-02-18 |