Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01298:Proc'

73193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Proc

Ensembl Gene

ENSMUSG00000024386

Gene Name

protein C

Synonyms

PC, inactivator of coagulation factors Va, VIII

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

32123129-32139570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32123552 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 354 (N354S)

Ref Sequence

ENSEMBL: ENSMUSP00000132226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171765]

Predicted Effect

probably benign
Transcript: ENSMUST00000171765
AA Change: N354S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: N354S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
GLA	24	86	6.66e-30	SMART
EGF_CA	87	131	1.25e-6	SMART
EGF	138	175	3.62e-3	SMART
low complexity region	201	210	N/A	INTRINSIC
Tryp_SPc	211	444	2.6e-82	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the vitamin K-dependent protein C, which plays a vital role in the anticoagulation pathway. The encoded protein undergoes proteolytic processing including activation by thrombin-thrombomodulin complex to form the anticoagulant serine protease that degrades activated coagulation factors. A complete lack of the encoded protein in mice results in severe perinatal consumptive coagulopathy in the brain and liver, resulting in death within 24 hours after birth. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,333,492	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,504,226	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,710,528	N186T	probably benign	Het
Ank2	A	G	3: 126,959,720	V304A	possibly damaging	Het
Atg3	T	C	16: 45,171,673	M88T	possibly damaging	Het
Baz1a	G	T	12: 54,954,809	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,794,307		probably null	Het
Cacnb3	T	C	15: 98,639,853	Y70H	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517	W19R	probably damaging	Het
Dock10	T	A	1: 80,531,245	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,848,094	D58Y	unknown	Het
Gm7168	A	T	17: 13,949,858	T496S	probably benign	Het
Gpc5	A	G	14: 115,399,188	S428G	probably benign	Het
Haus8	T	C	8: 71,253,113	E309G	probably damaging	Het
Ice1	A	G	13: 70,604,904	L1021P	possibly damaging	Het
Krtap14	A	T	16: 88,825,727	H121Q	probably benign	Het
Nwd1	T	C	8: 72,662,331	V170A	probably benign	Het
Olfr338	T	A	2: 36,377,448	M224K	probably benign	Het
Olfr803	T	C	10: 129,692,029	Y4C	probably damaging	Het
Olfr938	G	A	9: 39,078,724	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,428,673	M96T	possibly damaging	Het
Pramel5	A	G	4: 144,271,162		probably benign	Het
Prss40	T	G	1: 34,560,766	I47L	probably benign	Het
Tmprss7	T	C	16: 45,664,175	R541G	probably benign	Het
Togaram2	T	C	17: 71,716,513	V788A	possibly damaging	Het
Trbv19	T	C	6: 41,178,904	Y70H	probably damaging	Het
Ttk	C	T	9: 83,865,142	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,418,821	T665A	probably benign	Het

Other mutations in Proc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Proc	APN	18	32123513	missense	probably benign	0.05
IGL01071:Proc	APN	18	32123717	missense	probably damaging	1.00
IGL01287:Proc	APN	18	32123820	splice site	probably benign
IGL01898:Proc	APN	18	32133145	critical splice donor site	probably null
IGL01977:Proc	APN	18	32127419	missense	probably benign	0.02
IGL02040:Proc	APN	18	32134860	missense	probably benign	0.07
IGL02724:Proc	APN	18	32134872	missense	probably damaging	1.00
IGL02852:Proc	APN	18	32125155	missense	probably damaging	1.00
IGL02901:Proc	APN	18	32123625	missense	possibly damaging	0.89
IGL03401:Proc	APN	18	32123273	missense	possibly damaging	0.96
R0110:Proc	UTSW	18	32125118	missense	probably benign	0.26
R0131:Proc	UTSW	18	32135898	missense	probably benign	0.01
R0510:Proc	UTSW	18	32125118	missense	probably benign	0.26
R0988:Proc	UTSW	18	32133483	missense	probably benign
R1455:Proc	UTSW	18	32123398	missense	probably damaging	1.00
R1463:Proc	UTSW	18	32133438	missense	possibly damaging	0.69
R1546:Proc	UTSW	18	32127410	missense	probably damaging	1.00
R1711:Proc	UTSW	18	32127406	missense	probably benign	0.05
R3414:Proc	UTSW	18	32123685	missense	probably benign	0.00
R3911:Proc	UTSW	18	32123705	missense	probably damaging	1.00
R4276:Proc	UTSW	18	32135914	missense	probably benign	0.00
R4598:Proc	UTSW	18	32123459	missense	probably damaging	1.00
R4623:Proc	UTSW	18	32127473	missense	probably benign	0.32
R4758:Proc	UTSW	18	32123810	missense	probably damaging	0.97
R4941:Proc	UTSW	18	32125113	missense	possibly damaging	0.60
R5917:Proc	UTSW	18	32127460	missense	probably benign	0.07
R6349:Proc	UTSW	18	32133433	missense	probably benign	0.00
R6636:Proc	UTSW	18	32123760	missense	probably benign	0.00
R6735:Proc	UTSW	18	32123648	missense	probably benign	0.01
R7110:Proc	UTSW	18	32133388	missense	probably benign	0.30
R7310:Proc	UTSW	18	32135899	missense	probably benign	0.03
R7409:Proc	UTSW	18	32127460	missense	probably benign	0.03
R7597:Proc	UTSW	18	32123636	missense	probably damaging	1.00
R7598:Proc	UTSW	18	32135876	missense	probably benign	0.00
R7604:Proc	UTSW	18	32134778	splice site	probably null
R7738:Proc	UTSW	18	32127479	nonsense	probably null
R7921:Proc	UTSW	18	32123417	missense	probably damaging	1.00
R8425:Proc	UTSW	18	32123358	missense	probably damaging	1.00
X0021:Proc	UTSW	18	32123507	missense	probably damaging	0.96
Z1176:Proc	UTSW	18	32134979	missense	probably benign	0.03

Posted On

2013-10-07