Mutagenetix > Incidental Mutation

Incidental Mutation 'R7110:Proc'

551480

Institutional Source

Beutler Lab

Gene Symbol

Proc

Ensembl Gene

ENSMUSG00000024386

Gene Name

protein C

Synonyms

inactivator of coagulation factors Va, VIII, PC

MMRRC Submission

045202-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32256179-32272623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32266441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 129 (F129I)

Ref Sequence

ENSEMBL: ENSMUSP00000132226 (fasta)

Gene Model

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

AlphaFold

P33587

Predicted Effect

probably benign
Transcript: ENSMUST00000171765
AA Change: F129I

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: F129I

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

Meta Mutation Damage Score

0.0801

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,571 (GRCm39)	T184A	possibly damaging	Het
Abca4	T	A	3: 121,926,292 (GRCm39)	Y1243N	probably damaging	Het
Adamts7	A	G	9: 90,076,017 (GRCm39)	T1250A	possibly damaging	Het
Adgrg3	T	C	8: 95,761,591 (GRCm39)	V118A	possibly damaging	Het
Agrn	A	G	4: 156,263,332 (GRCm39)	V364A	possibly damaging	Het
Cacna2d1	C	A	5: 16,562,782 (GRCm39)	L853I	probably damaging	Het
Ccdc25	A	G	14: 66,094,165 (GRCm39)	K124R	probably benign	Het
Ccdc73	A	G	2: 104,803,569 (GRCm39)	M236V	probably benign	Het
Cdh1	G	A	8: 107,395,176 (GRCm39)	D862N	possibly damaging	Het
Cdh5	A	G	8: 104,867,400 (GRCm39)	D559G	probably damaging	Het
Celsr2	C	A	3: 108,305,181 (GRCm39)	G2133C	probably damaging	Het
Chd5	A	G	4: 152,469,896 (GRCm39)	N1823S	probably damaging	Het
Cog7	T	C	7: 121,534,999 (GRCm39)	N562S	probably damaging	Het
Dcaf6	A	T	1: 165,179,537 (GRCm39)	S534R	probably benign	Het
Donson	G	A	16: 91,479,009 (GRCm39)	R436*	probably null	Het
Fam53c	T	A	18: 34,895,523 (GRCm39)		probably null	Het
Foxi3	A	G	6: 70,937,730 (GRCm39)	T321A	probably benign	Het
Frmd4b	A	T	6: 97,273,192 (GRCm39)	Y733*	probably null	Het
Fscn2	A	T	11: 120,257,580 (GRCm39)	T314S	probably benign	Het
Gfral	A	G	9: 76,072,112 (GRCm39)	I386T	possibly damaging	Het
Gm21698	T	C	5: 26,190,175 (GRCm39)	E174G	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gprin1	T	C	13: 54,887,056 (GRCm39)	D406G	probably benign	Het
Habp2	A	T	19: 56,299,596 (GRCm39)	R128*	probably null	Het
Hoxc10	A	T	15: 102,879,356 (GRCm39)	Y292F	probably damaging	Het
Hydin	A	T	8: 111,081,583 (GRCm39)		probably null	Het
Igkv12-89	T	C	6: 68,812,115 (GRCm39)	D18G	probably damaging	Het
Jhy	T	C	9: 40,828,556 (GRCm39)	N450S	probably damaging	Het
Klhl18	T	A	9: 110,279,833 (GRCm39)	Q119L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lsmem1	A	T	12: 40,235,272 (GRCm39)		probably null	Het
Ly75	A	G	2: 60,206,528 (GRCm39)	I47T	probably benign	Het
Med12l	C	A	3: 59,169,645 (GRCm39)	T1603K	possibly damaging	Het
Mgat5	A	G	1: 127,310,716 (GRCm39)	D210G	possibly damaging	Het
Mgmt	G	T	7: 136,687,715 (GRCm39)	G55W	probably damaging	Het
Mrpl57	G	A	14: 58,063,754 (GRCm39)		probably benign	Het
Mtg1	G	A	7: 139,726,779 (GRCm39)	R209Q	probably benign	Het
Muc21	CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	17: 35,933,510 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,353,559 (GRCm39)	C826W	possibly damaging	Het
Myot	A	G	18: 44,474,453 (GRCm39)	D146G	probably damaging	Het
Nlrp4f	T	A	13: 65,347,160 (GRCm39)	I11F	probably damaging	Het
Nsun5	T	A	5: 135,400,104 (GRCm39)	Y76N	probably damaging	Het
Or7a42	A	T	10: 78,791,284 (GRCm39)	M82L	possibly damaging	Het
Pcdhb3	A	G	18: 37,435,975 (GRCm39)	N647S	possibly damaging	Het
Pdgfra	T	A	5: 75,349,895 (GRCm39)	Y926*	probably null	Het
Pdzd2	A	T	15: 12,368,099 (GRCm39)	L2630H	probably damaging	Het
Phox2b	G	A	5: 67,253,505 (GRCm39)	S297L	unknown	Het
Polr3e	T	A	7: 120,539,510 (GRCm39)		probably null	Het
Ppp4r2	T	A	6: 100,842,823 (GRCm39)	V238E	probably damaging	Het
Sgca	T	A	11: 94,854,227 (GRCm39)		probably null	Het
Slc7a10	A	G	7: 34,899,009 (GRCm39)	H360R	probably benign	Het
Slurp2	G	A	15: 74,614,964 (GRCm39)	T59I	probably benign	Het
Son	A	G	16: 91,453,406 (GRCm39)	T718A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spink7	T	C	18: 62,727,338 (GRCm39)	N62S	probably damaging	Het
Stxbp3	C	A	3: 108,723,649 (GRCm39)	R195S	probably damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Tbc1d9b	A	T	11: 50,054,657 (GRCm39)	I934F	probably benign	Het
Tecpr2	T	G	12: 110,885,406 (GRCm39)	L195R	probably damaging	Het
Tns2	G	C	15: 102,013,801 (GRCm39)	C71S	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp40	G	T	1: 87,913,884 (GRCm39)	T403K	probably benign	Het
Vat1	G	T	11: 101,356,539 (GRCm39)	R141S	possibly damaging	Het
Vmn2r28	T	G	7: 5,493,733 (GRCm39)	N71T	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
R7310:Proc	UTSW	18	32,268,952 (GRCm39)	missense	probably benign	0.03
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'- ATTGCTCTCCTCCAGGCAGTAG -3'
(R):5'- TACTTTGGTGAGTGAGCTCTAAGC -3'

Sequencing Primer
(F):5'- AGTAGTGCAAGCAGCCGC -3'
(R):5'- ATGGAAAGTTGAGGCTTACTCC -3'

Posted On

2019-05-15