Mutagenetix > Incidental Mutation

Incidental Mutation 'R2230:Proz'

239989

Institutional Source

Beutler Lab

Gene Symbol

Proz

Ensembl Gene

ENSMUSG00000031445

Gene Name

protein Z, vitamin K-dependent plasma glycoprotein

Synonyms

1300015B06Rik

MMRRC Submission

040231-MU

Accession Numbers

Essential gene?

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

Stock #

R2230 (G1)

Quality Score

225

Status

Validated

Chromosome

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

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,521,347 (GRCm39)	N280K	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly 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
Apoa2	A	G	1: 171,053,340 (GRCm39)	K53R	probably benign	Het
Atr	A	G	9: 95,802,818 (GRCm39)	R1827G	probably damaging	Het
Ccdc61	T	C	7: 18,625,032 (GRCm39)	E502G	probably damaging	Het
Ccn2	T	A	10: 24,472,371 (GRCm39)	M138K	possibly damaging	Het
Cdon	T	C	9: 35,403,222 (GRCm39)		probably null	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dock2	T	A	11: 34,244,323 (GRCm39)	I1036F	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	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
F2	T	C	2: 91,456,102 (GRCm39)	D553G	probably benign	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
Gm10650	A	G	3: 127,833,412 (GRCm39)		noncoding transcript	Het
Gm21850	G	T	2: 153,900,248 (GRCm39)	V202L	probably benign	Het
Hdc	T	A	2: 126,435,938 (GRCm39)	E644D	possibly damaging	Het
Hypk	G	A	2: 121,287,773 (GRCm39)		probably null	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
Mgll	G	A	6: 88,802,714 (GRCm39)	V318M	possibly damaging	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Musk	A	T	4: 58,333,672 (GRCm39)	I256F	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Myo5c	A	G	9: 75,180,888 (GRCm39)	D759G	probably benign	Het
Nkx2-1	G	A	12: 56,580,071 (GRCm39)	Q290*	probably null	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
Or7g16	A	G	9: 18,727,021 (GRCm39)	S190P	probably damaging	Het
Or8c13	T	C	9: 38,091,442 (GRCm39)	T226A	probably benign	Het
Pabpc2	G	A	18: 39,908,123 (GRCm39)	V463I	probably benign	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plxnd1	C	A	6: 115,941,105 (GRCm39)	R1302L	probably damaging	Het
Pnpla7	T	C	2: 24,941,610 (GRCm39)		probably benign	Het
Ppl	G	A	16: 4,906,845 (GRCm39)	T1150I	possibly damaging	Het
Prkag2	G	T	5: 25,113,362 (GRCm39)	A113E	probably benign	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sec14l5	A	G	16: 4,994,345 (GRCm39)	T380A	probably damaging	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sspo	C	A	6: 48,477,437 (GRCm39)	Q5123K	probably benign	Het
Tbc1d21	A	C	9: 58,270,363 (GRCm39)	N137K	probably damaging	Het
Tek	G	A	4: 94,699,573 (GRCm39)	C317Y	probably damaging	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Topbp1	T	A	9: 103,223,047 (GRCm39)	I1377N	probably damaging	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttf2	A	G	3: 100,865,260 (GRCm39)	V544A	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Ugt2b38	A	G	5: 87,569,527 (GRCm39)	F267L	probably benign	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het
Vwa8	T	C	14: 79,329,843 (GRCm39)		probably null	Het
Zfp708	A	T	13: 67,219,036 (GRCm39)	Y229*	probably null	Het
Zzef1	T	A	11: 72,775,242 (GRCm39)	M1745K	probably damaging	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
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

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