Mutagenetix > Incidental Mutation

Incidental Mutation 'R8820:Proz'

672989

Institutional Source

Beutler Lab

Gene Symbol

Proz

Ensembl Gene

ENSMUSG00000031445

Gene Name

protein Z, vitamin K-dependent plasma glycoprotein

Synonyms

1300015B06Rik

MMRRC Submission

068653-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R8820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13110914-13126026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13113253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 25 (F25I)

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: F25I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
AA Change: F25I

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000211363
AA Change: F25I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211453
AA Change: F25I

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,547,576 (GRCm39)	L266P	probably damaging	Het
Abcb1a	A	T	5: 8,773,204 (GRCm39)	T811S	possibly damaging	Het
Als2cl	T	C	9: 110,714,855 (GRCm39)	F125L	probably benign	Het
Arhgap33	T	C	7: 30,228,165 (GRCm39)	I406V	probably benign	Het
Cdyl	T	C	13: 36,042,174 (GRCm39)	I404T	probably damaging	Het
Cemip2	G	A	19: 21,784,818 (GRCm39)	V434M	probably damaging	Het
Clasrp	C	T	7: 19,320,362 (GRCm39)	R432H	unknown	Het
Clk2	T	A	3: 89,082,730 (GRCm39)	M392K	probably damaging	Het
Cps1	T	A	1: 67,267,439 (GRCm39)	N1402K	possibly damaging	Het
Cyp2u1	T	C	3: 131,092,016 (GRCm39)	H168R	probably damaging	Het
Dapl1	T	C	2: 59,335,056 (GRCm39)	L70P	probably damaging	Het
Ddr2	T	A	1: 169,805,483 (GRCm39)	K836*	probably null	Het
Dsel	A	G	1: 111,787,994 (GRCm39)	L847P	probably benign	Het
Fbxw17	A	T	13: 50,587,351 (GRCm39)	K437M	possibly damaging	Het
Fktn	T	C	4: 53,735,001 (GRCm39)	V174A	possibly damaging	Het
Frem1	C	A	4: 82,821,754 (GRCm39)	S2118I	probably damaging	Het
Fzd8	G	A	18: 9,213,247 (GRCm39)	V110M	unknown	Het
Gabrb3	T	C	7: 57,442,329 (GRCm39)	S212P	probably damaging	Het
Gimap9	A	G	6: 48,654,821 (GRCm39)	D136G	probably benign	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Ift46	C	T	9: 44,701,819 (GRCm39)	T283I	probably damaging	Het
Il36b	C	T	2: 24,049,892 (GRCm39)	Q168*	probably null	Het
Ldb2	G	A	5: 44,956,757 (GRCm39)	Q27*	probably null	Het
Lmcd1	T	A	6: 112,306,770 (GRCm39)	I314N	probably damaging	Het
Lypd9	T	G	11: 58,337,129 (GRCm39)	S115R	probably damaging	Het
Mctp2	C	A	7: 71,879,081 (GRCm39)	V259L	probably benign	Het
Midn	T	G	10: 79,990,234 (GRCm39)	S302A	probably damaging	Het
Ncor2	A	G	5: 125,106,291 (GRCm39)	V797A		Het
Npm2	A	G	14: 70,885,768 (GRCm39)	S146P	probably damaging	Het
Npr1	G	A	3: 90,372,201 (GRCm39)	R204C	probably damaging	Het
Or1j10	T	C	2: 36,267,006 (GRCm39)	S73P	probably damaging	Het
Or1n1b	C	A	2: 36,780,622 (GRCm39)	M79I	probably benign	Het
Or52n3	T	A	7: 104,530,862 (GRCm39)	V316D	possibly damaging	Het
Or6e1	C	T	14: 54,520,070 (GRCm39)	G94D	probably benign	Het
Orc2	T	C	1: 58,515,639 (GRCm39)	N290D	probably benign	Het
Paip2b	A	C	6: 83,791,738 (GRCm39)	M48R	probably damaging	Het
Pcdhb15	T	A	18: 37,606,971 (GRCm39)	S68T	probably benign	Het
Pcnx1	T	A	12: 82,020,022 (GRCm39)	H715Q		Het
Pcsk2	T	A	2: 143,642,990 (GRCm39)	H422Q	probably damaging	Het
Pdzph1	G	C	17: 59,187,715 (GRCm39)	Y1168*	probably null	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Prelp	T	C	1: 133,842,878 (GRCm39)	N89S	probably damaging	Het
Rapgef3	T	C	15: 97,646,538 (GRCm39)	N799S	probably benign	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Ryr3	G	A	2: 112,466,137 (GRCm39)	R4795W	probably damaging	Het
Ryr3	A	G	2: 112,690,069 (GRCm39)	V1180A	probably benign	Het
Scn11a	T	C	9: 119,645,586 (GRCm39)	I123V	probably benign	Het
Sema4b	G	C	7: 79,870,248 (GRCm39)	E475D	probably damaging	Het
Serinc2	C	A	4: 130,149,172 (GRCm39)	M343I	probably damaging	Het
Serinc5	G	T	13: 92,844,544 (GRCm39)	V429F	probably benign	Het
Smyd2	T	A	1: 189,632,018 (GRCm39)	K115N	probably benign	Het
Tenm3	T	G	8: 48,763,759 (GRCm39)	D765A	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Ythdc2	C	T	18: 44,967,531 (GRCm39)	R176*	probably null	Het
Zfp27	T	C	7: 29,594,013 (GRCm39)	K651E	probably benign	Het

Other mutations in Proz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTGACATAGCGTGGCTTCTC -3'
(R):5'- TTCGTACCGTGATGACGTC -3'

Sequencing Primer
(F):5'- TGCCAATGTGTCTGCCTAAAAC -3'
(R):5'- CCGTGATGACGTCATTTTCAAACAC -3'

Posted On

2021-04-30