Mutagenetix > Incidental Mutation

Incidental Mutation 'R0110:Proc'

20421

Institutional Source

Beutler Lab

Gene Symbol

Proc

Ensembl Gene

ENSMUSG00000024386

Gene Name

protein C

Synonyms

inactivator of coagulation factors Va, VIII, PC

MMRRC Submission

038396-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0110 (G1)

Quality Score

125

Status

Validated (trace)

Chromosome

Chromosomal Location

32256179-32272623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32258171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 258 (T258I)

Ref Sequence

ENSEMBL: ENSMUSP00000132226 (fasta)

Gene Model

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

AlphaFold

P33587

Predicted Effect

probably benign
Transcript: ENSMUST00000171765
AA Change: T258I

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: T258I

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

98% (105/107)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,320 (GRCm39)		probably benign	Het
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Brd8dc	A	T	18: 34,729,204 (GRCm39)	D42E	probably damaging	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	C	A	1: 44,098,384 (GRCm39)	V905F	probably benign	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Celsr3	G	A	9: 108,704,204 (GRCm39)	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cntln	C	T	4: 85,014,994 (GRCm39)	T1095I	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col11a1	A	T	3: 113,899,105 (GRCm39)		probably benign	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Dock4	A	G	12: 40,671,311 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam227b	T	A	2: 125,942,841 (GRCm39)	S319C	probably damaging	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Gal3st2c	C	T	1: 93,937,219 (GRCm39)	P388L	probably benign	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Gm5134	C	A	10: 75,810,079 (GRCm39)	T120N	probably benign	Het
Gmip	C	T	8: 70,268,259 (GRCm39)		probably benign	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gsdme	C	A	6: 50,223,107 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hadhb	T	C	5: 30,374,483 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Itpa	A	T	2: 130,521,338 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,347,758 (GRCm39)	T605A	probably benign	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lap3	T	C	5: 45,652,632 (GRCm39)		probably benign	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map3k6	T	C	4: 132,971,105 (GRCm39)	L273P	probably damaging	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mrc1	T	A	2: 14,243,353 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Mtcl1	C	T	17: 66,665,109 (GRCm39)	E1149K	possibly damaging	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Ncapg	T	C	5: 45,850,489 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,180,755 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Parp3	A	G	9: 106,348,995 (GRCm39)	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,126,808 (GRCm39)	N296Y	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Prmt1	A	G	7: 44,628,225 (GRCm39)		probably benign	Het
Prom2	T	G	2: 127,373,033 (GRCm39)	S679R	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Rin2	A	G	2: 145,702,953 (GRCm39)	K550E	probably benign	Het
Rtn4	T	A	11: 29,683,849 (GRCm39)		probably benign	Het
Semp2l1	T	A	1: 32,584,956 (GRCm39)	N318I	possibly damaging	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,609,998 (GRCm39)		probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpp2	A	G	1: 44,038,853 (GRCm39)	D1133G	probably damaging	Het
Tpp2	T	A	1: 44,017,664 (GRCm39)	V756E	probably benign	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Tsen15	A	G	1: 152,247,548 (GRCm39)	V148A	probably damaging	Het
Ttn	T	A	2: 76,694,672 (GRCm39)		probably benign	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Wdr41	T	C	13: 95,154,619 (GRCm39)		probably benign	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp423	A	G	8: 88,508,887 (GRCm39)	S486P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	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
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
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'- AGTGAGGAGACCCCTGCTCAATAAC -3'
(R):5'- TGTGTGCCACTGGGATCAAGAAC -3'

Sequencing Primer
(F):5'- CCCTGCTCAATAACAGATATGTGG -3'
(R):5'- CACTGGGATCAAGAACCCAGG -3'

Posted On

2013-04-11