Incidental Mutation 'R2232:Proz'
ID 240108
Institutional Source Beutler Lab
Gene Symbol Proz
Ensembl Gene ENSMUSG00000031445
Gene Name protein Z, vitamin K-dependent plasma glycoprotein
Synonyms 1300015B06Rik
MMRRC Submission 040233-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R2232 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13110914-13126026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13113356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 59 (Y59C)
Ref Sequence ENSEMBL: ENSMUSP00000033822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033822] [ENSMUST00000211363] [ENSMUST00000211453]
AlphaFold Q9CQW3
Predicted Effect probably damaging
Transcript: ENSMUST00000033822
AA Change: Y59C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
AA Change: Y59C

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 damaging
Transcript: ENSMUST00000211363
AA Change: Y59C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000211453
AA Change: Y59C

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.6295 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A C 5: 121,657,795 (GRCm39) D499E possibly damaging Het
Adamtsl2 G A 2: 26,993,190 (GRCm39) G740E probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Akap9 G A 5: 4,096,603 (GRCm39) V2493I probably damaging Het
Ankra2 T C 13: 98,407,646 (GRCm39) F199L probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Asns A G 6: 7,689,316 (GRCm39) I62T possibly damaging Het
Celf3 T A 3: 94,387,566 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,853,244 (GRCm39) T403A probably benign Het
Dennd2b T C 7: 109,156,414 (GRCm39) D112G probably benign Het
Dgkd T A 1: 87,857,464 (GRCm39) S725R probably benign Het
Dnah5 G A 15: 28,408,563 (GRCm39) probably null Het
Entrep2 G A 7: 64,408,970 (GRCm39) H475Y probably damaging Het
Ergic3 A G 2: 155,859,736 (GRCm39) T346A probably damaging Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Ghrhr T C 6: 55,362,444 (GRCm39) F347S probably damaging Het
Htr2a A T 14: 74,882,469 (GRCm39) I152F probably damaging Het
Il17re T C 6: 113,441,761 (GRCm39) C219R probably damaging Het
Kansl2 A G 15: 98,422,359 (GRCm39) L403S probably damaging Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
L1cam T A X: 72,904,947 (GRCm39) N503I possibly damaging Het
Lrrk2 A G 15: 91,648,919 (GRCm39) K1638E probably benign Het
Mcpt9 A T 14: 56,265,445 (GRCm39) C85S probably benign Het
Mindy3 C A 2: 12,408,856 (GRCm39) R73M probably benign Het
Mrgprb3 T C 7: 48,292,770 (GRCm39) I260M probably benign Het
Nes T A 3: 87,886,238 (GRCm39) I1499N possibly damaging Het
Ninl A G 2: 150,791,970 (GRCm39) V851A probably benign Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or10j7 A G 1: 173,011,182 (GRCm39) I273T probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Pcare A G 17: 72,056,279 (GRCm39) S1133P probably benign Het
Pdk3 G T X: 92,857,604 (GRCm39) N59K probably damaging Het
Pigq T C 17: 26,151,183 (GRCm39) H322R probably benign Het
Ppp3r1 G A 11: 17,143,115 (GRCm39) G68R probably damaging Het
Prpf39 C T 12: 65,090,786 (GRCm39) R32* probably null Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Pth2r G T 1: 65,375,928 (GRCm39) W62L probably damaging Het
Scin T A 12: 40,118,930 (GRCm39) K622I probably damaging Het
Serpinb6a T C 13: 34,109,303 (GRCm39) K143R probably damaging Het
Ska1 G T 18: 74,330,137 (GRCm39) probably null Het
Slc30a8 G T 15: 52,169,960 (GRCm39) R62S probably benign Het
Slc8a3 A C 12: 81,361,994 (GRCm39) I275S probably damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spmap2l A G 5: 77,207,252 (GRCm39) I337V possibly damaging Het
Sspo A G 6: 48,425,606 (GRCm39) I76V probably damaging Het
Sult1c2 G T 17: 54,138,848 (GRCm39) T243K probably benign Het
Svil T A 18: 5,046,640 (GRCm39) M1K probably null Het
Tet3 T C 6: 83,346,453 (GRCm39) D1328G probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Trmt9b T A 8: 36,979,707 (GRCm39) C437S probably damaging Het
Ttc3 T C 16: 94,260,831 (GRCm39) S1439P probably benign Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Usp20 A G 2: 30,908,750 (GRCm39) N777S probably benign Het
Zfp92 G T X: 72,466,358 (GRCm39) L450F 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
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
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 PCR Primer
(F):5'- TGCCTAAAACTCACAAGGGC -3'
(R):5'- TGAGGCTCTTGCTGCATCTC -3'

Sequencing Primer
(F):5'- CTACTGACCAGTGGGGAACAGC -3'
(R):5'- GGCTCTTGCTGCATCTCTAGGTC -3'
Posted On 2014-10-15