Incidental Mutation 'R4063:Proz'
ID 315965
Institutional Source Beutler Lab
Gene Symbol Proz
Ensembl Gene ENSMUSG00000031445
Gene Name protein Z, vitamin K-dependent plasma glycoprotein
Synonyms 1300015B06Rik
MMRRC Submission 041619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R4063 (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 13114621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 85 (Y85C)
Ref Sequence ENSEMBL: ENSMUSP00000147733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033822] [ENSMUST00000211363] [ENSMUST00000211453]
AlphaFold Q9CQW3
Predicted Effect probably damaging
Transcript: ENSMUST00000033822
AA Change: Y85C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
AA Change: Y85C

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: Y85C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211453
Meta Mutation Damage Score 0.9600 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,854,606 (GRCm39) F145L probably benign Het
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Arhgef28 T C 13: 98,130,575 (GRCm39) D421G probably benign Het
Armh4 T A 14: 50,011,444 (GRCm39) M88L probably benign Het
Atl2 T C 17: 80,157,588 (GRCm39) *413W probably null Het
B4galt7 C A 13: 55,756,152 (GRCm39) probably null Het
Bltp3b A G 10: 89,651,917 (GRCm39) N247S probably benign Het
C8g A T 2: 25,389,425 (GRCm39) S147T probably damaging Het
Clstn3 A T 6: 124,426,792 (GRCm39) Y510N possibly damaging Het
Cnot2 A G 10: 116,373,301 (GRCm39) V34A possibly damaging Het
Cyb5d2 A T 11: 72,686,606 (GRCm39) probably benign Het
Dnah5 T C 15: 28,421,144 (GRCm39) I3827T probably damaging Het
Dnah7a G T 1: 53,464,376 (GRCm39) Q3672K probably benign Het
Dock1 A T 7: 134,717,021 (GRCm39) Y1219F possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gm10719 G T 9: 3,019,043 (GRCm39) W96L probably damaging Het
H2-M2 G A 17: 37,792,399 (GRCm39) H291Y probably damaging Het
Hmgcl T C 4: 135,686,035 (GRCm39) Y167H probably damaging Het
Il22ra2 A T 10: 19,502,400 (GRCm39) D73V possibly damaging Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Irag1 G T 7: 110,522,984 (GRCm39) A359D probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lipf A G 19: 33,942,965 (GRCm39) N91S probably benign Het
M1ap A T 6: 82,980,756 (GRCm39) N214I probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mdga1 A G 17: 30,057,005 (GRCm39) C826R probably damaging Het
Msx1 C A 5: 37,981,365 (GRCm39) A105S probably benign Het
Or5ac23 A C 16: 59,149,243 (GRCm39) S210A probably benign Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Ppp1r13l A T 7: 19,103,978 (GRCm39) H153L probably benign Het
Pramel21 A G 4: 143,342,559 (GRCm39) D222G possibly damaging Het
Pramel29 T C 4: 143,935,265 (GRCm39) K161E possibly damaging Het
Prss50 A G 9: 110,687,480 (GRCm39) D141G probably benign Het
Rad54l2 T A 9: 106,597,613 (GRCm39) Q131L probably benign Het
Sdha A G 13: 74,472,077 (GRCm39) probably benign Het
Sema3d T A 5: 12,635,091 (GRCm39) I719N probably benign Het
Slc18b1 A T 10: 23,681,879 (GRCm39) I148L probably benign Het
Tacc2 G T 7: 130,330,852 (GRCm39) D2086Y probably damaging Het
Tchh T C 3: 93,354,298 (GRCm39) L1246P unknown Het
Tmprss11d T C 5: 86,457,177 (GRCm39) I161V probably benign Het
Trpc3 T C 3: 36,725,172 (GRCm39) D268G probably damaging Het
Trpm8 G A 1: 88,289,727 (GRCm39) R895H probably damaging Het
Txndc2 A G 17: 65,945,079 (GRCm39) I366T possibly damaging Het
Ugt2a3 T C 5: 87,484,725 (GRCm39) I100V probably benign Het
Upp1 C A 11: 9,081,709 (GRCm39) P82Q probably damaging Het
Vim A G 2: 13,584,827 (GRCm39) probably null Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Zdhhc14 G T 17: 5,802,983 (GRCm39) C362F probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zswim5 G A 4: 116,735,177 (GRCm39) G174D unknown 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
R3850:Proz UTSW 8 13,123,533 (GRCm39) missense probably benign 0.00
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'- AGAGACACAGTGTAGCTCCC -3'
(R):5'- CTCATTGTGGTCCTGCTAGG -3'

Sequencing Primer
(F):5'- GTACCTGGCATAGAATATTCCACTC -3'
(R):5'- GGAGAGCCTCAGAACCATTGTC -3'
Posted On 2015-05-15