Incidental Mutation 'R0241:Proz'
ID 66190
Institutional Source Beutler Lab
Gene Symbol Proz
Ensembl Gene ENSMUSG00000031445
Gene Name protein Z, vitamin K-dependent plasma glycoprotein
Synonyms 1300015B06Rik
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R0241 (G1)
Quality Score 158
Status Not validated
Chromosome 8
Chromosomal Location 13110914-13126026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13115356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 124 (M124K)
Ref Sequence ENSEMBL: ENSMUSP00000033822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033822] [ENSMUST00000211363] [ENSMUST00000211453]
AlphaFold Q9CQW3
Predicted Effect probably benign
Transcript: ENSMUST00000033822
AA Change: M124K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
AA Change: M124K

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
GLA 22 86 7.03e-29 SMART
EGF 90 123 1.65e-6 SMART
EGF 128 166 1.19e-3 SMART
Tryp_SPc 182 394 6.49e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210050
Predicted Effect probably benign
Transcript: ENSMUST00000211363
AA Change: M124K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000211453
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 89.8%
  • 20x: 65.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: When unchallenged, mice homozygous for a knock-out allele do not express an obvious phenotype; however, homozygotes exhibit significantly reduced survival following collagen/epinephrine-induced thromboembolism and develop enhanced thrombosis in the ferric chloride-induced arterial injury model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Other mutations in Proz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01677:Proz APN 8 13,115,238 (GRCm39) splice site probably benign
IGL01977:Proz APN 8 13,116,913 (GRCm39) missense probably damaging 1.00
IGL02553:Proz APN 8 13,115,260 (GRCm39) missense probably benign 0.00
IGL02991:Proz UTSW 8 13,123,490 (GRCm39) missense probably benign 0.00
R0241:Proz UTSW 8 13,115,356 (GRCm39) missense probably benign 0.02
R0482:Proz UTSW 8 13,123,460 (GRCm39) nonsense probably null
R1614:Proz UTSW 8 13,116,904 (GRCm39) missense probably damaging 1.00
R1906:Proz UTSW 8 13,123,686 (GRCm39) splice site probably null
R2230:Proz UTSW 8 13,113,356 (GRCm39) missense probably damaging 0.99
R2232:Proz UTSW 8 13,113,356 (GRCm39) missense probably damaging 0.99
R2444:Proz UTSW 8 13,111,027 (GRCm39) start gained probably benign
R3029:Proz UTSW 8 13,111,042 (GRCm39) missense probably benign
R3847:Proz UTSW 8 13,123,533 (GRCm39) missense probably benign 0.00
R3850:Proz UTSW 8 13,123,533 (GRCm39) missense probably benign 0.00
R4063:Proz UTSW 8 13,114,621 (GRCm39) missense probably damaging 1.00
R5104:Proz UTSW 8 13,116,931 (GRCm39) missense probably damaging 1.00
R5309:Proz UTSW 8 13,111,049 (GRCm39) missense probably damaging 1.00
R5337:Proz UTSW 8 13,116,854 (GRCm39) missense probably benign 0.01
R5447:Proz UTSW 8 13,122,578 (GRCm39) missense probably benign 0.31
R5876:Proz UTSW 8 13,123,448 (GRCm39) missense probably benign 0.05
R6739:Proz UTSW 8 13,123,451 (GRCm39) missense possibly damaging 0.86
R7559:Proz UTSW 8 13,113,455 (GRCm39) missense probably benign 0.01
R7842:Proz UTSW 8 13,113,406 (GRCm39) missense probably benign 0.19
R7867:Proz UTSW 8 13,111,027 (GRCm39) start gained probably benign
R8676:Proz UTSW 8 13,123,630 (GRCm39) missense probably damaging 1.00
R8820:Proz UTSW 8 13,113,253 (GRCm39) missense probably damaging 1.00
R8936:Proz UTSW 8 13,115,319 (GRCm39) missense probably benign 0.01
R9255:Proz UTSW 8 13,123,472 (GRCm39) missense possibly damaging 0.79
R9644:Proz UTSW 8 13,116,854 (GRCm39) missense probably benign 0.01
Predicted Primers
Posted On 2013-08-19