Incidental Mutation 'R4688:Pros1'
ID 397200
Institutional Source Beutler Lab
Gene Symbol Pros1
Ensembl Gene ENSMUSG00000022912
Gene Name protein S (alpha)
Synonyms protein S
MMRRC Submission 041939-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4688 (G1)
Quality Score 187
Status Not validated
Chromosome 16
Chromosomal Location 62674670-62749709 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 62709370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023629]
AlphaFold Q08761
Predicted Effect probably null
Transcript: ENSMUST00000023629
SMART Domains Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912

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: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,680 (GRCm39) N535S probably damaging Het
Abcc12 T C 8: 87,275,323 (GRCm39) S452G possibly damaging Het
Acacb C A 5: 114,342,824 (GRCm39) Q897K probably benign Het
Acot3 C A 12: 84,100,691 (GRCm39) R145S probably damaging Het
Ankrd54 A T 15: 78,938,782 (GRCm39) Y247N probably damaging Het
Arl11 G A 14: 61,548,546 (GRCm39) V119I probably benign Het
Atosb A G 4: 43,034,663 (GRCm39) F352S probably damaging Het
Atxn7 T A 14: 14,089,288 (GRCm38) M268K probably benign Het
Bms1 G A 6: 118,369,667 (GRCm39) R934C probably damaging Het
Brd10 A G 19: 29,694,501 (GRCm39) I1664T probably benign Het
Chrnb3 T C 8: 27,884,147 (GRCm39) S295P probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cnr1 A T 4: 33,944,571 (GRCm39) I320F probably benign Het
Cntn4 C T 6: 106,414,910 (GRCm39) P147L probably damaging Het
Col24a1 G A 3: 145,020,144 (GRCm39) V172I probably benign Het
Col9a3 A G 2: 180,249,424 (GRCm39) D262G probably damaging Het
Csrnp2 A G 15: 100,380,241 (GRCm39) V350A probably damaging Het
D630045J12Rik A G 6: 38,173,592 (GRCm39) V192A possibly damaging Het
Deptor A G 15: 55,072,177 (GRCm39) M219V probably benign Het
Dmrtb1 A T 4: 107,541,247 (GRCm39) L38Q probably damaging Het
Dvl2 G A 11: 69,898,344 (GRCm39) R367Q possibly damaging Het
Dync1h1 T G 12: 110,621,962 (GRCm39) I3435S probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Eif2b3 A G 4: 116,916,046 (GRCm39) N218D probably benign Het
Epha2 A G 4: 141,046,292 (GRCm39) D497G probably benign Het
Epha7 G T 4: 28,821,367 (GRCm39) L177F probably damaging Het
Fam98c C T 7: 28,854,666 (GRCm39) E147K probably damaging Het
Fbxo17 A G 7: 28,431,979 (GRCm39) T19A probably benign Het
Fbxo47 A G 11: 97,747,049 (GRCm39) F339S probably damaging Het
Frmd4a G T 2: 4,542,122 (GRCm39) V234L possibly damaging Het
Gal3st2 A G 1: 93,800,245 (GRCm39) D32G probably damaging Het
Gpr135 T C 12: 72,117,720 (GRCm39) T16A probably benign Het
Gpr160 A T 3: 30,950,835 (GRCm39) R302S probably benign Het
Hrh2 C A 13: 54,368,820 (GRCm39) N265K probably benign Het
Htatip2 C A 7: 49,423,171 (GRCm39) A242E probably damaging Het
Igfbp7 T C 5: 77,555,482 (GRCm39) Y127C probably damaging Het
Igkv16-104 A G 6: 68,402,878 (GRCm39) Q57R possibly damaging Het
Ino80c A G 18: 24,241,903 (GRCm39) S161P probably damaging Het
Itprid1 G A 6: 55,944,132 (GRCm39) probably null Het
Kcnc1 A G 7: 46,047,259 (GRCm39) D53G probably benign Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Lce1h G T 3: 92,670,874 (GRCm39) R93S unknown Het
Lce1k T C 3: 92,713,951 (GRCm39) S78G unknown Het
Lhcgr T A 17: 89,072,580 (GRCm39) I156F probably damaging Het
Lpl T C 8: 69,352,077 (GRCm39) Y343H probably damaging Het
Lrp6 G T 6: 134,456,706 (GRCm39) R853S probably damaging Het
Lrrc7 A G 3: 157,854,242 (GRCm39) V1322A probably damaging Het
Lrrc74a C T 12: 86,784,472 (GRCm39) Q67* probably null Het
Megf6 A T 4: 154,338,271 (GRCm39) D447V probably damaging Het
Mep1a T C 17: 43,793,139 (GRCm39) D355G possibly damaging Het
Ncoa1 T C 12: 4,365,781 (GRCm39) D95G probably benign Het
Npepl1 A T 2: 173,956,235 (GRCm39) I139F possibly damaging Het
Nrcam T C 12: 44,594,020 (GRCm39) S262P probably benign Het
Nrp1 A G 8: 129,229,047 (GRCm39) N842D probably benign Het
Olfml3 A G 3: 103,639,497 (GRCm39) probably benign Het
Or1x6 A G 11: 50,939,815 (GRCm39) R294G probably damaging Het
Or4b1d T A 2: 89,969,343 (GRCm39) N47Y possibly damaging Het
Or6b6 T A 7: 106,571,068 (GRCm39) Y161F probably benign Het
Or6c204 G A 10: 129,022,514 (GRCm39) P259S probably damaging Het
Or6k8-ps1 T C 1: 173,979,162 (GRCm39) Y27H possibly damaging Het
Or8b3b A G 9: 38,584,659 (GRCm39) L27P probably damaging Het
Or9i1b A T 19: 13,896,605 (GRCm39) T74S probably benign Het
Pde2a A G 7: 101,152,041 (GRCm39) N316S probably benign Het
Pde4dip T A 3: 97,750,993 (GRCm39) R74* probably null Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Piezo1 A T 8: 123,215,278 (GRCm39) W1444R probably damaging Het
Pla2g4e T C 2: 119,998,414 (GRCm39) K843R possibly damaging Het
Plxna2 C T 1: 194,326,753 (GRCm39) P229L probably damaging Het
Prelid3b G T 2: 174,308,592 (GRCm39) T131K probably benign Het
Prrc2c G T 1: 162,525,256 (GRCm39) P450Q unknown Het
Ptbp1 G T 10: 79,692,342 (GRCm39) V5F possibly damaging Het
Ptk2 T A 15: 73,078,074 (GRCm39) L997F probably damaging Het
Rims1 G T 1: 22,518,528 (GRCm39) S525* probably null Het
Sanbr A G 11: 23,543,449 (GRCm39) S530P probably benign Het
Sh2b3 T A 5: 121,956,697 (GRCm39) D318V probably benign Het
Slc16a13 A T 11: 70,111,101 (GRCm39) I88N probably damaging Het
Slit2 T A 5: 48,414,345 (GRCm39) probably null Het
Snx10 A G 6: 51,556,918 (GRCm39) N67S probably damaging Het
Stil A G 4: 114,898,505 (GRCm39) Y1045C probably damaging Het
Stra6 A G 9: 58,042,359 (GRCm39) probably null Het
Sympk A G 7: 18,788,335 (GRCm39) S1254G probably benign Het
Syt15 G T 14: 33,950,011 (GRCm39) G377V probably damaging Het
Taar4 A T 10: 23,836,731 (GRCm39) I114F probably damaging Het
Tcaf3 G A 6: 42,570,300 (GRCm39) probably null Het
Tgm7 A T 2: 120,924,502 (GRCm39) N558K probably benign Het
Tln2 T G 9: 67,304,935 (GRCm39) M1L probably benign Het
Trim50 C T 5: 135,395,994 (GRCm39) T314I probably damaging Het
Trp53rka A T 2: 165,333,312 (GRCm39) Y192* probably null Het
Ube3b T C 5: 114,531,139 (GRCm39) V211A probably benign Het
Ush2a A G 1: 188,132,138 (GRCm39) S787G probably benign Het
Vmn1r189 T C 13: 22,286,289 (GRCm39) M183V probably damaging Het
Vps13d G T 4: 144,904,782 (GRCm39) Q115K probably benign Het
Zfp358 A G 8: 3,545,493 (GRCm39) D25G probably damaging Het
Zfp521 T G 18: 13,977,647 (GRCm39) K922T probably damaging Het
Zfp521 T A 18: 13,977,648 (GRCm39) K922* probably null Het
Zfp68 T A 5: 138,614,743 (GRCm39) K4* probably null 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
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'- GCTCAGTGGTGTTTTAAGCC -3'
(R):5'- AAGCGTCATTCCAAATCAGTCAG -3'

Sequencing Primer
(F):5'- TCTCTGTAAGACTACATACACATTCC -3'
(R):5'- GTCAGCATGACTTTATATACAAGAGC -3'
Posted On 2016-06-28