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 |
Genbank: NM_011173; MGI: 1095733 |
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1308 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
62854307-62929346 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62913865 bp (GRCm38)
|
| 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: 18,692,118 |
W474* |
probably null |
Het |
| Cln6 |
A |
G |
9: 62,850,861 |
T301A |
probably damaging |
Het |
| D730048I06Rik |
T |
C |
9: 35,789,089 |
T67A |
probably benign |
Het |
| G6pc2 |
A |
T |
2: 69,220,226 |
D65V |
probably damaging |
Het |
| Havcr1 |
C |
T |
11: 46,756,270 |
T177I |
probably damaging |
Het |
| Jph1 |
A |
G |
1: 17,091,694 |
I248T |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,150,818 |
L230P |
probably damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,728,475 |
K146R |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 133,245,815 |
S395P |
probably damaging |
Het |
| Myo6 |
G |
A |
9: 80,245,714 |
V210I |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,707,353 |
R314W |
probably damaging |
Het |
| Otoa |
C |
A |
7: 121,125,443 |
C448* |
probably null |
Het |
| Prkcg |
G |
C |
7: 3,329,106 |
K525N |
probably damaging |
Het |
| Prss47 |
T |
C |
13: 65,051,816 |
H83R |
probably benign |
Het |
| R3hdml |
G |
T |
2: 163,502,399 |
C236F |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,378,043 |
|
probably null |
Het |
| Syt12 |
A |
T |
19: 4,460,735 |
V37E |
probably damaging |
Het |
| Tekt2 |
A |
T |
4: 126,324,918 |
L14H |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,055,353 |
F857S |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 14,928,384 |
T116A |
probably damaging |
Het |
|
| Other mutations in Pros1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00937:Pros1
|
APN |
16 |
62910045 |
missense |
probably damaging |
0.99 |
|
IGL01300:Pros1
|
APN |
16 |
62913811 |
missense |
possibly damaging |
0.85 |
|
IGL02709:Pros1
|
APN |
16 |
62898945 |
missense |
probably damaging |
0.99 |
|
IGL03080:Pros1
|
APN |
16 |
62918143 |
missense |
probably damaging |
0.98 |
|
IGL03095:Pros1
|
APN |
16 |
62907769 |
nonsense |
probably null |
|
|
F6893:Pros1
|
UTSW |
16 |
62924639 |
missense |
probably damaging |
0.98 |
|
R0124:Pros1
|
UTSW |
16 |
62913946 |
missense |
possibly damaging |
0.95 |
|
R0517:Pros1
|
UTSW |
16 |
62903518 |
missense |
probably benign |
0.03 |
|
R1113:Pros1
|
UTSW |
16 |
62913865 |
missense |
probably damaging |
0.99 |
|
R1355:Pros1
|
UTSW |
16 |
62919558 |
missense |
probably benign |
0.23 |
|
R1370:Pros1
|
UTSW |
16 |
62919558 |
missense |
probably benign |
0.23 |
|
R1517:Pros1
|
UTSW |
16 |
62885512 |
missense |
probably damaging |
0.98 |
|
R1866:Pros1
|
UTSW |
16 |
62928135 |
missense |
possibly damaging |
0.86 |
|
R1876:Pros1
|
UTSW |
16 |
62903518 |
missense |
probably damaging |
0.96 |
|
R2255:Pros1
|
UTSW |
16 |
62903572 |
missense |
possibly damaging |
0.86 |
|
R2364:Pros1
|
UTSW |
16 |
62913848 |
missense |
probably damaging |
0.99 |
|
R2369:Pros1
|
UTSW |
16 |
62928069 |
missense |
probably damaging |
1.00 |
|
R2979:Pros1
|
UTSW |
16 |
62913866 |
missense |
probably damaging |
0.99 |
|
R3724:Pros1
|
UTSW |
16 |
62900329 |
missense |
possibly damaging |
0.86 |
|
R4056:Pros1
|
UTSW |
16 |
62900645 |
nonsense |
probably null |
|
|
R4556:Pros1
|
UTSW |
16 |
62900673 |
missense |
possibly damaging |
0.95 |
|
R4688:Pros1
|
UTSW |
16 |
62889007 |
critical splice donor site |
probably null |
|
|
R4850:Pros1
|
UTSW |
16 |
62885524 |
missense |
probably damaging |
0.98 |
|
R4923:Pros1
|
UTSW |
16 |
62903572 |
missense |
possibly damaging |
0.86 |
|
R5008:Pros1
|
UTSW |
16 |
62928185 |
missense |
possibly damaging |
0.53 |
|
R5370:Pros1
|
UTSW |
16 |
62913976 |
missense |
probably benign |
0.01 |
|
R5580:Pros1
|
UTSW |
16 |
62926326 |
critical splice acceptor site |
probably null |
|
|
R5930:Pros1
|
UTSW |
16 |
62928061 |
missense |
probably damaging |
0.96 |
|
R5974:Pros1
|
UTSW |
16 |
62900667 |
missense |
probably damaging |
0.98 |
|
R6233:Pros1
|
UTSW |
16 |
62898921 |
missense |
possibly damaging |
0.47 |
|
R6949:Pros1
|
UTSW |
16 |
62924575 |
missense |
probably benign |
0.01 |
|
R7055:Pros1
|
UTSW |
16 |
62928102 |
missense |
possibly damaging |
0.85 |
|
R7347:Pros1
|
UTSW |
16 |
62919523 |
missense |
probably damaging |
0.97 |
|
R7375:Pros1
|
UTSW |
16 |
62924550 |
missense |
probably damaging |
0.96 |
|
R7419:Pros1
|
UTSW |
16 |
62928070 |
nonsense |
probably null |
|
|
R7980:Pros1
|
UTSW |
16 |
62928153 |
missense |
possibly damaging |
0.86 |
|
R8234:Pros1
|
UTSW |
16 |
62928177 |
missense |
possibly damaging |
0.73 |
|
R8479:Pros1
|
UTSW |
16 |
62907739 |
missense |
probably damaging |
1.00 |
|
R8514:Pros1
|
UTSW |
16 |
62910109 |
missense |
probably benign |
0.03 |
|
R8827:Pros1
|
UTSW |
16 |
62926464 |
missense |
probably benign |
0.13 |
|
R9131:Pros1
|
UTSW |
16 |
62928034 |
missense |
probably damaging |
0.96 |
|
R9484:Pros1
|
UTSW |
16 |
62924524 |
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 |
Incidental Mutation