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) question?
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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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