Mutagenetix > Incidental Mutation

Incidental Mutation 'R7409:Proc'

574965

Institutional Source

Beutler Lab

Gene Symbol

Proc

Ensembl Gene

ENSMUSG00000024386

Gene Name

protein C

Synonyms

inactivator of coagulation factors Va, VIII, PC

MMRRC Submission

045490-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7409 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32256179-32272623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32260513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 204 (D204G)

Ref Sequence

ENSEMBL: ENSMUSP00000132226 (fasta)

Gene Model

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

AlphaFold

P33587

Predicted Effect

probably benign
Transcript: ENSMUST00000171765
AA Change: D204G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: D204G

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (82/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,912,862 (GRCm39)	A1329V	probably benign	Het
Aida	A	G	1: 183,099,809 (GRCm39)	T215A	probably benign	Het
Alpk2	A	G	18: 65,440,023 (GRCm39)	S457P	probably benign	Het
Ap4b1	G	A	3: 103,719,474 (GRCm39)	V63I	probably damaging	Het
Apaf1	A	G	10: 90,903,108 (GRCm39)	V182A	probably damaging	Het
B4galnt4	G	A	7: 140,646,916 (GRCm39)		probably null	Het
Bltp2	G	T	11: 78,159,583 (GRCm39)	R544L	probably damaging	Het
Cacna1a	T	G	8: 85,260,031 (GRCm39)	D331E	probably damaging	Het
Carmil2	A	G	8: 106,419,423 (GRCm39)		probably null	Het
Cdkn1b	A	T	6: 134,898,280 (GRCm39)	Q133L	probably benign	Het
Cep192	G	C	18: 67,967,874 (GRCm39)	S786T	possibly damaging	Het
Cfap418	T	A	4: 10,881,834 (GRCm39)	C94S	probably benign	Het
Cfap97	G	A	8: 46,645,733 (GRCm39)	R537H	probably benign	Het
Clpx	C	G	9: 65,231,529 (GRCm39)	A552G	possibly damaging	Het
Cryl1	G	A	14: 57,523,842 (GRCm39)	T240I	probably damaging	Het
Ddx60	C	A	8: 62,411,612 (GRCm39)	T488K	probably benign	Het
Dennd4b	A	G	3: 90,181,259 (GRCm39)	H805R	probably benign	Het
Dnmbp	T	C	19: 43,878,996 (GRCm39)	D25G	unknown	Het
Dysf	A	C	6: 84,126,664 (GRCm39)	D1293A	probably benign	Het
Efl1	T	C	7: 82,347,121 (GRCm39)	L549P	probably damaging	Het
Eif5	T	C	12: 111,506,697 (GRCm39)		probably benign	Het
Eva1c	A	G	16: 90,666,544 (GRCm39)	K156E	probably damaging	Het
Fbxw10	T	G	11: 62,767,606 (GRCm39)	V814G	possibly damaging	Het
Gfap	C	T	11: 102,785,358 (GRCm39)	R206Q	probably benign	Het
Gjb6	A	T	14: 57,361,610 (GRCm39)	L217*	probably null	Het
Gpatch11	T	A	17: 79,146,595 (GRCm39)	L80Q	probably damaging	Het
Gramd1b	T	C	9: 40,238,727 (GRCm39)	Q225R	probably damaging	Het
Gsdmc2	A	G	15: 63,705,195 (GRCm39)	S173P	possibly damaging	Het
Hars1	C	G	18: 36,903,166 (GRCm39)	R388P	probably damaging	Het
Ighm	C	T	12: 113,385,852 (GRCm39)	R129H		Het
Igsf9	A	G	1: 172,322,841 (GRCm39)	I602V	probably benign	Het
Inpp4b	T	G	8: 82,679,314 (GRCm39)		probably null	Het
Itch	C	A	2: 155,041,302 (GRCm39)	T450K	probably damaging	Het
Kcnq1	T	C	7: 142,663,152 (GRCm39)	F20L	unknown	Het
Kmt2d	G	T	15: 98,753,235 (GRCm39)	A153E	probably damaging	Het
Macf1	T	A	4: 123,398,263 (GRCm39)	N750I	probably damaging	Het
Marveld2	T	A	13: 100,747,984 (GRCm39)	H365L	probably damaging	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mettl8	A	T	2: 70,803,687 (GRCm39)	V200E	probably damaging	Het
Mrgbp	T	G	2: 180,227,135 (GRCm39)	S157A	possibly damaging	Het
Mrps35	A	G	6: 146,957,481 (GRCm39)	T169A	possibly damaging	Het
Mycbp2	A	T	14: 103,526,180 (GRCm39)	Y551N	probably damaging	Het
Myo18b	T	C	5: 113,021,971 (GRCm39)	R474G	probably benign	Het
Nfx1	T	A	4: 41,021,830 (GRCm39)	S979R	possibly damaging	Het
Nlrp1a	T	C	11: 71,013,634 (GRCm39)	T539A	probably benign	Het
Oca2	T	A	7: 56,064,145 (GRCm39)	D713E	probably benign	Het
Omt2b	A	C	9: 78,235,894 (GRCm39)	Y73S	probably benign	Het
Or10aa1	T	A	1: 173,870,099 (GRCm39)	H194Q	probably benign	Het
Or13a27	C	T	7: 139,925,318 (GRCm39)	V195I	probably benign	Het
Or6c38	A	G	10: 128,929,081 (GRCm39)	I254T	probably damaging	Het
Or6c69	A	T	10: 129,748,120 (GRCm39)	V9D	possibly damaging	Het
Pde11a	G	T	2: 75,836,328 (GRCm39)	Q20K		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phrf1	C	A	7: 140,839,205 (GRCm39)	T800K	unknown	Het
Polr1f	T	G	12: 33,486,988 (GRCm39)	C150W	possibly damaging	Het
Pramel4	T	C	4: 143,795,061 (GRCm39)	S486P	probably benign	Het
Rasgrp3	T	A	17: 75,823,411 (GRCm39)	I494N	possibly damaging	Het
Samm50	A	G	15: 84,081,231 (GRCm39)	D53G	probably benign	Het
Satb1	T	C	17: 52,116,217 (GRCm39)	D22G	possibly damaging	Het
Scarf2	T	C	16: 17,624,918 (GRCm39)	S658P	probably damaging	Het
Sfta2	T	A	17: 35,925,410 (GRCm39)	I29K	unknown	Het
Slc15a4	A	T	5: 127,681,742 (GRCm39)	S292T	probably benign	Het
Slc37a1	C	T	17: 31,559,237 (GRCm39)	T439I	probably damaging	Het
Slc4a9	C	A	18: 36,663,858 (GRCm39)	P294Q	probably damaging	Het
Slc52a3	T	C	2: 151,846,086 (GRCm39)	S16P	probably damaging	Het
Slc6a15	A	G	10: 103,244,163 (GRCm39)	I468V	probably benign	Het
Spag17	T	C	3: 99,934,547 (GRCm39)	S610P	possibly damaging	Het
Spag17	A	T	3: 99,941,475 (GRCm39)	D738V	probably benign	Het
Ssbp4	T	C	8: 71,050,617 (GRCm39)	R269G	unknown	Het
Tbl1xr1	A	G	3: 22,257,354 (GRCm39)	T406A	possibly damaging	Het
Tep1	A	T	14: 51,104,312 (GRCm39)	V194D	possibly damaging	Het
Thbs4	A	T	13: 92,909,767 (GRCm39)	C343*	probably null	Het
Tmed10	A	T	12: 85,391,065 (GRCm39)	S158T	possibly damaging	Het
Trbv3	T	A	6: 41,025,524 (GRCm39)	V38E	probably damaging	Het
Ttc6	T	C	12: 57,743,772 (GRCm39)	M1258T	probably damaging	Het
Ttn	T	C	2: 76,589,320 (GRCm39)	D21281G	probably damaging	Het
Usp54	T	C	14: 20,602,313 (GRCm39)	R1346G	probably damaging	Het
Vmn2r8	C	A	5: 108,956,449 (GRCm39)	E58*	probably null	Het
Vps13d	C	T	4: 144,867,824 (GRCm39)	E2009K		Het
Vps33b	T	C	7: 79,935,017 (GRCm39)	I320T	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,553,786 (GRCm39)	Y143C	probably damaging	Het
Zfp213	C	T	17: 23,778,603 (GRCm39)		probably null	Het
Zfp219	A	T	14: 52,244,570 (GRCm39)	Y536*	probably null	Het

Other mutations in Proc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Proc	APN	18	32,256,566 (GRCm39)	missense	probably benign	0.05
IGL01071:Proc	APN	18	32,256,770 (GRCm39)	missense	probably damaging	1.00
IGL01287:Proc	APN	18	32,256,873 (GRCm39)	splice site	probably benign
IGL01298:Proc	APN	18	32,256,605 (GRCm39)	missense	probably benign	0.01
IGL01898:Proc	APN	18	32,266,198 (GRCm39)	critical splice donor site	probably null
IGL01977:Proc	APN	18	32,260,472 (GRCm39)	missense	probably benign	0.02
IGL02040:Proc	APN	18	32,267,913 (GRCm39)	missense	probably benign	0.07
IGL02724:Proc	APN	18	32,267,925 (GRCm39)	missense	probably damaging	1.00
IGL02852:Proc	APN	18	32,258,208 (GRCm39)	missense	probably damaging	1.00
IGL02901:Proc	APN	18	32,256,678 (GRCm39)	missense	possibly damaging	0.89
IGL03401:Proc	APN	18	32,256,326 (GRCm39)	missense	possibly damaging	0.96
R0110:Proc	UTSW	18	32,258,171 (GRCm39)	missense	probably benign	0.26
R0131:Proc	UTSW	18	32,268,951 (GRCm39)	missense	probably benign	0.01
R0510:Proc	UTSW	18	32,258,171 (GRCm39)	missense	probably benign	0.26
R0988:Proc	UTSW	18	32,266,536 (GRCm39)	missense	probably benign
R1455:Proc	UTSW	18	32,256,451 (GRCm39)	missense	probably damaging	1.00
R1463:Proc	UTSW	18	32,266,491 (GRCm39)	missense	possibly damaging	0.69
R1546:Proc	UTSW	18	32,260,463 (GRCm39)	missense	probably damaging	1.00
R1711:Proc	UTSW	18	32,260,459 (GRCm39)	missense	probably benign	0.05
R3414:Proc	UTSW	18	32,256,738 (GRCm39)	missense	probably benign	0.00
R3911:Proc	UTSW	18	32,256,758 (GRCm39)	missense	probably damaging	1.00
R4276:Proc	UTSW	18	32,268,967 (GRCm39)	missense	probably benign	0.00
R4598:Proc	UTSW	18	32,256,512 (GRCm39)	missense	probably damaging	1.00
R4623:Proc	UTSW	18	32,260,526 (GRCm39)	missense	probably benign	0.32
R4758:Proc	UTSW	18	32,256,863 (GRCm39)	missense	probably damaging	0.97
R4941:Proc	UTSW	18	32,258,166 (GRCm39)	missense	possibly damaging	0.60
R5917:Proc	UTSW	18	32,260,513 (GRCm39)	missense	probably benign	0.07
R6349:Proc	UTSW	18	32,266,486 (GRCm39)	missense	probably benign	0.00
R6636:Proc	UTSW	18	32,256,813 (GRCm39)	missense	probably benign	0.00
R6735:Proc	UTSW	18	32,256,701 (GRCm39)	missense	probably benign	0.01
R7110:Proc	UTSW	18	32,266,441 (GRCm39)	missense	probably benign	0.30
R7310:Proc	UTSW	18	32,268,952 (GRCm39)	missense	probably benign	0.03
R7597:Proc	UTSW	18	32,256,689 (GRCm39)	missense	probably damaging	1.00
R7598:Proc	UTSW	18	32,268,929 (GRCm39)	missense	probably benign	0.00
R7604:Proc	UTSW	18	32,267,831 (GRCm39)	splice site	probably null
R7738:Proc	UTSW	18	32,260,532 (GRCm39)	nonsense	probably null
R7921:Proc	UTSW	18	32,256,470 (GRCm39)	missense	probably damaging	1.00
R8425:Proc	UTSW	18	32,256,411 (GRCm39)	missense	probably damaging	1.00
R9074:Proc	UTSW	18	32,268,950 (GRCm39)	missense	possibly damaging	0.67
R9382:Proc	UTSW	18	32,256,336 (GRCm39)	missense	probably damaging	1.00
R9690:Proc	UTSW	18	32,256,371 (GRCm39)	missense	probably damaging	1.00
X0021:Proc	UTSW	18	32,256,560 (GRCm39)	missense	probably damaging	0.96
Z1176:Proc	UTSW	18	32,268,032 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GATGCATGCCCTTCCCTGAC -3'
(R):5'- CCAACTCTTGCTAGTAGGTGG -3'

Sequencing Primer
(F):5'- ACCATGCCCATTTCTATCCATACCAG -3'
(R):5'- CACTTCTTGAAGCGTCCAGGATG -3'

Posted On

2019-10-07