Incidental Mutation 'R3724:Pros1'
ID 270699
Institutional Source Beutler Lab
Gene Symbol Pros1
Ensembl Gene ENSMUSG00000022912
Gene Name protein S (alpha)
Synonyms protein S
MMRRC Submission 040715-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3724 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 62674670-62749709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62720692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 117 (I117T)
Ref Sequence ENSEMBL: ENSMUSP00000023629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023629]
AlphaFold Q08761
Predicted Effect possibly damaging
Transcript: ENSMUST00000023629
AA Change: I117T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: I117T

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155940
Meta Mutation Damage Score 0.2517 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G T 8: 120,876,099 (GRCm39) R133L probably damaging Het
Abhd8 G A 8: 71,914,136 (GRCm39) A164V probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Atl1 A G 12: 70,006,154 (GRCm39) T487A probably damaging Het
C2cd6 C T 1: 59,105,394 (GRCm39) probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Ccna1 T C 3: 54,958,353 (GRCm39) E110G probably damaging Het
Ccne2 T C 4: 11,203,039 (GRCm39) C386R probably benign Het
Cfap53 A G 18: 74,492,640 (GRCm39) I455V probably benign Het
Ctdp1 C T 18: 80,502,482 (GRCm39) V143I probably benign Het
Cyp11a1 A T 9: 57,926,605 (GRCm39) M47L probably benign Het
Dnah5 T C 15: 28,270,566 (GRCm39) L956P probably benign Het
Enkd1 A T 8: 106,430,557 (GRCm39) V326E possibly damaging Het
Epha4 A G 1: 77,403,180 (GRCm39) probably benign Het
Etv5 T C 16: 22,254,662 (GRCm39) D66G probably damaging Het
Evi5l A G 8: 4,228,080 (GRCm39) probably benign Het
Foxf2 A G 13: 31,814,513 (GRCm39) K409R probably damaging Het
Frem3 A G 8: 81,341,900 (GRCm39) T1398A probably benign Het
Galm A G 17: 80,490,709 (GRCm39) T289A probably benign Het
Gtdc1 T C 2: 44,646,319 (GRCm39) E44G probably damaging Het
Hmcn1 T A 1: 150,565,269 (GRCm39) Y2286F possibly damaging Het
Iars1 A G 13: 49,840,860 (GRCm39) probably null Het
Ifna5 A G 4: 88,754,171 (GRCm39) E137G probably damaging Het
Itih4 G A 14: 30,614,541 (GRCm39) E468K possibly damaging Het
Kat6a A T 8: 23,352,804 (GRCm39) H196L probably damaging Het
Kctd16 A G 18: 40,391,912 (GRCm39) T167A possibly damaging Het
Klhl29 C T 12: 5,140,603 (GRCm39) V680I probably damaging Het
Marchf7 T C 2: 60,060,089 (GRCm39) I72T probably benign Het
Mbd6 C T 10: 127,119,760 (GRCm39) probably benign Het
Mefv A G 16: 3,526,058 (GRCm39) probably null Het
Mindy3 T A 2: 12,360,165 (GRCm39) M6L probably damaging Het
Mrpl9 T A 3: 94,355,073 (GRCm39) probably null Het
Nlrp4e A T 7: 23,020,802 (GRCm39) T430S probably benign Het
Or4ac1-ps1 T G 2: 88,370,630 (GRCm39) noncoding transcript Het
Pcdh15 A T 10: 74,481,680 (GRCm39) T342S probably benign Het
Prkce A T 17: 86,476,051 (GRCm39) K11* probably null Het
Prpf38b T C 3: 108,811,656 (GRCm39) probably benign Het
Sh3rf1 T C 8: 61,825,756 (GRCm39) S584P probably benign Het
Slit2 T C 5: 48,414,225 (GRCm39) probably null Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Stambp C T 6: 83,534,448 (GRCm39) E280K probably damaging Het
Tenm3 A G 8: 48,730,781 (GRCm39) I1329T probably damaging Het
Tex2 G A 11: 106,420,156 (GRCm39) T869I unknown Het
Tlk2 A G 11: 105,138,390 (GRCm39) T281A probably benign Het
Tpm1 G A 9: 66,939,227 (GRCm39) probably benign Het
Trim3 A G 7: 105,260,396 (GRCm39) F702L probably damaging Het
Uba6 T C 5: 86,282,906 (GRCm39) D559G probably damaging Het
Vmn2r20 T A 6: 123,362,706 (GRCm39) T693S probably benign Het
Zfand2b A G 1: 75,146,499 (GRCm39) K125E possibly damaging Het
Zfp422 C T 6: 116,603,340 (GRCm39) A220T probably benign Het
Zfp747 A T 7: 126,973,762 (GRCm39) V136D probably benign Het
Other mutations in Pros1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCTTCCTCATAGAATTGTCTTAAGGT -3'
(R):5'- TTGTAATGCAACCATCCCAGGAAA -3'

Sequencing Primer
(F):5'- CCCCATCAAGTATATGCAGTGGTTG -3'
(R):5'- CATCCCAGGAAAGCCAAAGGG -3'
Posted On 2015-03-18