Incidental Mutation 'R3850:Proz'
ID 275876
Institutional Source Beutler Lab
Gene Symbol Proz
Ensembl Gene ENSMUSG00000031445
Gene Name protein Z, vitamin K-dependent plasma glycoprotein
Synonyms 1300015B06Rik
MMRRC Submission 040898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R3850 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13110914-13126026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13123533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 268 (E268G)
Ref Sequence ENSEMBL: ENSMUSP00000033822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033822] [ENSMUST00000164416] [ENSMUST00000168164] [ENSMUST00000211363] [ENSMUST00000211453]
AlphaFold Q9CQW3
Predicted Effect probably benign
Transcript: ENSMUST00000033822
AA Change: E268G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
AA Change: E268G

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 probably benign
Transcript: ENSMUST00000164416
SMART Domains Protein: ENSMUSP00000133204
Gene: ENSMUSG00000038542

DomainStartEndE-ValueType
PAM 144 312 4.29e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165885
Predicted Effect probably benign
Transcript: ENSMUST00000168164
Predicted Effect probably benign
Transcript: ENSMUST00000211363
Predicted Effect probably benign
Transcript: ENSMUST00000211453
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (59/59)
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
Abca1 C T 4: 53,061,481 (GRCm39) probably benign Het
Abcc5 A T 16: 20,190,906 (GRCm39) S815T probably benign Het
Adamts17 T A 7: 66,490,215 (GRCm39) L99Q possibly damaging Het
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Als2cl A G 9: 110,718,377 (GRCm39) probably benign Het
Antxrl C A 14: 33,789,338 (GRCm39) H309Q probably benign Het
Ap1g2 T C 14: 55,342,363 (GRCm39) M165V probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Cdh16 T C 8: 105,344,473 (GRCm39) D22G possibly damaging Het
Cdh17 A G 4: 11,785,201 (GRCm39) D331G probably damaging Het
Csmd1 C G 8: 16,129,936 (GRCm39) V1729L probably benign Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Cwf19l1 T C 19: 44,119,937 (GRCm39) Y68C probably benign Het
Dst C T 1: 34,228,355 (GRCm39) Q1658* probably null Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Fan1 T C 7: 64,022,119 (GRCm39) Y378C probably damaging Het
Fat4 T A 3: 39,061,410 (GRCm39) V4331D probably benign Het
Fbxl8 T C 8: 105,993,781 (GRCm39) S46P probably benign Het
Golgb1 C A 16: 36,719,095 (GRCm39) Q334K probably benign Het
Hoxc10 T C 15: 102,875,879 (GRCm39) V196A probably benign Het
Hsf4 T C 8: 105,997,469 (GRCm39) F101L probably damaging Het
Hydin T C 8: 111,290,561 (GRCm39) I3340T probably damaging Het
Igfbpl1 C T 4: 45,826,426 (GRCm39) R123H probably benign Het
Mov10l1 A T 15: 88,889,898 (GRCm39) probably null Het
Mrc2 T C 11: 105,183,729 (GRCm39) probably null Het
Muc5b G A 7: 141,416,375 (GRCm39) C3107Y possibly damaging Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Nfasc T C 1: 132,559,471 (GRCm39) T214A probably damaging Het
Or4a72 T C 2: 89,405,378 (GRCm39) R231G probably damaging Het
Or5aq1b T A 2: 86,902,310 (GRCm39) H56L possibly damaging Het
Or7d10 A T 9: 19,832,105 (GRCm39) Y200F probably damaging Het
Pcdhga10 C T 18: 37,882,074 (GRCm39) P612S probably damaging Het
Picalm A G 7: 89,840,912 (GRCm39) N456S probably damaging Het
Pigo A G 4: 43,025,084 (GRCm39) F5S probably benign Het
Pikfyve T C 1: 65,270,004 (GRCm39) F563S probably damaging Het
Plod2 A G 9: 92,424,598 (GRCm39) E29G probably benign Het
Pm20d2 A G 4: 33,174,414 (GRCm39) V403A probably damaging Het
Rb1cc1 T A 1: 6,320,337 (GRCm39) V1252D probably benign Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rmdn3 A T 2: 118,986,903 (GRCm39) H41Q possibly damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Ror1 A G 4: 100,299,357 (GRCm39) Y910C possibly damaging Het
Scn2a C T 2: 65,512,375 (GRCm39) L171F probably benign Het
Sh3pxd2b A G 11: 32,361,505 (GRCm39) E239G probably damaging Het
Smim33 G A 18: 35,861,767 (GRCm39) V84I probably benign Het
Snx27 G T 3: 94,427,542 (GRCm39) T311K probably benign Het
Sspo T A 6: 48,469,424 (GRCm39) L4459Q probably damaging Het
Syne2 T C 12: 76,095,396 (GRCm39) L5241P probably damaging Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Thap12 G T 7: 98,365,870 (GRCm39) K679N probably damaging Het
Vmn2r65 T A 7: 84,595,859 (GRCm39) H275L probably benign Het
Wfs1 C A 5: 37,125,968 (GRCm39) V308L probably benign Het
Zfp229 C A 17: 21,964,843 (GRCm39) H358N probably damaging Het
Zfp687 T C 3: 94,915,225 (GRCm39) D1092G probably 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
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
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'- CAGGGTTTCACTGAGCAGTC -3'
(R):5'- ACAGCTTGTCCTCGTAGTGAC -3'

Sequencing Primer
(F):5'- AGTCAGTACCCGGTGGCTATC -3'
(R):5'- CTCGTAGTGACCGTTACATTCAGG -3'
Posted On 2015-04-06