Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Proc'

567549

Institutional Source

Beutler Lab

Gene Symbol

Proc

Ensembl Gene

ENSMUSG00000024386

Gene Name

protein C

Synonyms

inactivator of coagulation factors Va, VIII, PC

MMRRC Submission

045409-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32256179-32272623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32268952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 11 (M11K)

Ref Sequence

ENSEMBL: ENSMUSP00000132226 (fasta)

Gene Model

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

AlphaFold

P33587

Predicted Effect

probably benign
Transcript: ENSMUST00000171765
AA Change: M11K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: M11K

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: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,771,094 (GRCm39)	Q192L	possibly damaging	Het
Abat	G	A	16: 8,423,457 (GRCm39)	R250Q	probably null	Het
Abcg3	A	C	5: 105,114,632 (GRCm39)	F295C	probably benign	Het
Abl1	T	C	2: 31,690,604 (GRCm39)	S708P	possibly damaging	Het
Acap2	A	T	16: 30,926,972 (GRCm39)	Y489*	probably null	Het
Akr1c6	A	T	13: 4,486,354 (GRCm39)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,589,270 (GRCm39)		probably null	Het
Asap1	A	G	15: 63,971,379 (GRCm39)		probably null	Het
Atrnl1	A	T	19: 57,630,856 (GRCm39)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,795,485 (GRCm39)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,795,460 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Bmi1	T	C	2: 18,689,230 (GRCm39)	S305P	probably benign	Het
Bpifc	T	A	10: 85,798,891 (GRCm39)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,993 (GRCm39)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,519,914 (GRCm39)	D428V	probably damaging	Het
Card14	A	C	11: 119,217,005 (GRCm39)	Q363P	probably null	Het
Cdca2	A	T	14: 67,950,673 (GRCm39)	L86H	probably damaging	Het
Cdh22	G	T	2: 164,954,214 (GRCm39)	S769*	probably null	Het
Cdhr17	A	G	5: 17,075,246 (GRCm39)	Y872C	possibly damaging	Het
Cep164	T	C	9: 45,686,664 (GRCm39)	E690G	probably damaging	Het
Cluh	A	G	11: 74,560,285 (GRCm39)	H1304R	probably benign	Het
Daxx	C	A	17: 34,129,435 (GRCm39)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,636,127 (GRCm39)	M1117V	possibly damaging	Het
Entpd3	T	A	9: 120,389,821 (GRCm39)		probably null	Het
Esr1	G	A	10: 4,889,259 (GRCm39)	A386T	probably damaging	Het
Etv5	G	A	16: 22,220,487 (GRCm39)	P300L	probably benign	Het
Exoc3l	A	T	8: 106,020,340 (GRCm39)	L195Q	probably damaging	Het
Exog	T	C	9: 119,274,069 (GRCm39)	L18P	unknown	Het
Fgfr1	T	A	8: 26,052,331 (GRCm39)	V219D	probably benign	Het
Gna14	A	T	19: 16,511,113 (GRCm39)	Q54L		Het
Gnb5	T	C	9: 75,221,570 (GRCm39)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,589,924 (GRCm39)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,149,884 (GRCm39)	D48E	probably damaging	Het
Hrc	T	A	7: 44,985,227 (GRCm39)	L126*	probably null	Het
Hspa8	T	G	9: 40,714,704 (GRCm39)	D333E	probably benign	Het
Igsf3	T	A	3: 101,338,895 (GRCm39)	V403D	probably benign	Het
Itga10	C	A	3: 96,555,475 (GRCm39)	A143D	probably damaging	Het
Kdr	T	A	5: 76,104,985 (GRCm39)	I1082F	probably damaging	Het
Klk1b11	A	T	7: 43,428,254 (GRCm39)	I242F	probably damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Map1b	G	A	13: 99,570,163 (GRCm39)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm39)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,439,615 (GRCm39)	T358S	probably damaging	Het
Msantd5l	A	C	11: 51,145,474 (GRCm39)	W38G	probably damaging	Het
Mttp	T	C	3: 137,800,783 (GRCm39)	D759G	probably damaging	Het
Mup17	T	A	4: 61,511,929 (GRCm39)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,541,697 (GRCm39)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,778,436 (GRCm39)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,469 (GRCm39)		probably null	Het
Ncf1	A	T	5: 134,250,615 (GRCm39)	S402T	probably benign	Het
Ndufb10	T	C	17: 24,941,188 (GRCm39)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,721,409 (GRCm39)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,903,801 (GRCm39)	H172Q		Het
Nup205	T	A	6: 35,202,904 (GRCm39)	D1370E	possibly damaging	Het
Or1e32	A	C	11: 73,705,112 (GRCm39)	N265K	probably damaging	Het
Or51ab3	T	A	7: 103,201,892 (GRCm39)	I300N	probably damaging	Het
Or5b97	A	G	19: 12,878,637 (GRCm39)	F169S	probably damaging	Het
Pkd1l2	A	G	8: 117,750,773 (GRCm39)	V1746A	probably benign	Het
Plin2	T	A	4: 86,586,628 (GRCm39)	I68F	probably benign	Het
Rif1	T	C	2: 51,995,631 (GRCm39)	V950A	probably benign	Het
Rmc1	A	G	18: 12,317,972 (GRCm39)	K362E	probably benign	Het
Rnf208	C	A	2: 25,133,587 (GRCm39)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,571,011 (GRCm39)	Y269*	probably null	Het
Senp7	T	C	16: 56,006,445 (GRCm39)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,419,269 (GRCm39)	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,099,121 (GRCm39)	H383N	probably benign	Het
Slc12a5	G	A	2: 164,834,360 (GRCm39)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,616,482 (GRCm39)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,188,103 (GRCm39)	I199L	probably damaging	Het
Styxl2	G	A	1: 165,926,300 (GRCm39)	T1104I	possibly damaging	Het
Tle4	A	T	19: 14,495,155 (GRCm39)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,081,651 (GRCm39)	S271*	probably null	Het
Tnks2	G	A	19: 36,856,839 (GRCm39)	V855I	probably benign	Het
Trank1	T	C	9: 111,196,194 (GRCm39)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Trim25	A	T	11: 88,906,608 (GRCm39)	N448I	probably benign	Het
Trim31	T	A	17: 37,218,194 (GRCm39)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,214,138 (GRCm39)	V502E	possibly damaging	Het
Usp10	A	C	8: 120,668,344 (GRCm39)	D215A	possibly damaging	Het
Usp33	T	G	3: 152,066,026 (GRCm39)	L102*	probably null	Het
Wdr12	A	T	1: 60,121,734 (GRCm39)	C272*	probably null	Het
Xndc1	A	C	7: 101,727,938 (GRCm39)		probably null	Het
Zkscan2	T	C	7: 123,089,276 (GRCm39)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,841,885 (GRCm39)	T822S	probably benign	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
R7409:Proc	UTSW	18	32,260,513 (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'- GCGTGCATGAAGGGCTTTAG -3'
(R):5'- AGCTCACAAACGTCCTTTACTC -3'

Sequencing Primer
(F):5'- CATGAAGGGCTTTAGAGGTGC -3'
(R):5'- TAGTCACCTGGAGCTGGTCAAG -3'

Posted On

2019-06-26