Incidental Mutation 'R5370:Pros1'
ID |
429616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pros1
|
Ensembl Gene |
ENSMUSG00000022912 |
Gene Name |
protein S (alpha) |
Synonyms |
protein S |
MMRRC Submission |
042947-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5370 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
62674670-62749709 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62734339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 382
(I382L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023629]
|
AlphaFold |
Q08761 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023629
AA Change: I382L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000023629 Gene: ENSMUSG00000022912 AA Change: I382L
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Armc3 |
A |
C |
2: 19,290,873 (GRCm39) |
T451P |
probably benign |
Het |
Ass1 |
G |
A |
2: 31,408,745 (GRCm39) |
V379M |
possibly damaging |
Het |
Cdhr2 |
A |
G |
13: 54,868,700 (GRCm39) |
Y554C |
probably damaging |
Het |
Clec4g |
C |
A |
8: 3,768,344 (GRCm39) |
R129L |
probably benign |
Het |
Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,920,180 (GRCm39) |
T2238S |
probably damaging |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,498,881 (GRCm39) |
E66G |
probably benign |
Het |
Fam169a |
T |
A |
13: 97,243,470 (GRCm39) |
C167S |
probably damaging |
Het |
Ggcx |
T |
C |
6: 72,402,914 (GRCm39) |
S291P |
possibly damaging |
Het |
Gsdme |
T |
A |
6: 50,206,286 (GRCm39) |
I186F |
probably damaging |
Het |
Gzma |
T |
A |
13: 113,232,329 (GRCm39) |
M191L |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,416,403 (GRCm39) |
S226T |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hs6st1 |
T |
A |
1: 36,108,162 (GRCm39) |
S142T |
probably damaging |
Het |
Ighv3-5 |
A |
G |
12: 114,226,518 (GRCm39) |
V36A |
probably benign |
Het |
Leng8 |
A |
G |
7: 4,148,433 (GRCm39) |
D735G |
possibly damaging |
Het |
Mapk13 |
T |
A |
17: 28,995,326 (GRCm39) |
Y182* |
probably null |
Het |
Mrgprb8 |
A |
T |
7: 48,038,568 (GRCm39) |
T80S |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,149,343 (GRCm39) |
A605T |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,749,504 (GRCm39) |
T134A |
probably damaging |
Het |
Or2n1d |
G |
T |
17: 38,646,335 (GRCm39) |
G96* |
probably null |
Het |
Padi3 |
C |
A |
4: 140,537,849 (GRCm39) |
E24* |
probably null |
Het |
Pcdhga3 |
T |
A |
18: 37,808,343 (GRCm39) |
D265E |
probably damaging |
Het |
Ptpn23 |
A |
G |
9: 110,214,769 (GRCm39) |
V1544A |
possibly damaging |
Het |
Rhoh |
G |
T |
5: 66,049,921 (GRCm39) |
A64S |
probably benign |
Het |
Rnf115 |
A |
G |
3: 96,665,336 (GRCm39) |
T69A |
probably benign |
Het |
Taf5 |
A |
G |
19: 47,064,203 (GRCm39) |
E382G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,250,450 (GRCm39) |
I607N |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,195,421 (GRCm39) |
Y635C |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,652,512 (GRCm39) |
D765G |
probably benign |
Het |
Wnk2 |
T |
C |
13: 49,256,437 (GRCm39) |
D228G |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,342,496 (GRCm39) |
D1579G |
possibly 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 |
R1308: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 |
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'- CAGCTGAATTTGATTTTCGCAC -3'
(R):5'- TTCCTGACCTAAAGGGGAGAC -3'
Sequencing Primer
(F):5'- TTCGCACATATGATTCAGAGGGC -3'
(R):5'- GGAGACCCCATAATTCACCC -3'
|
Posted On |
2016-09-06 |