Mutagenetix > Incidental Mutation

Incidental Mutation 'R2255:Pros1'

241983

Institutional Source

Beutler Lab

Gene Symbol

Pros1

Ensembl Gene

ENSMUSG00000022912

Gene Name

protein S (alpha)

Synonyms

protein S

MMRRC Submission

040255-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62674670-62749709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62723935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 228 (C228S)

Ref Sequence

ENSEMBL: ENSMUSP00000023629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023629]

AlphaFold

Q08761

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023629
AA Change: C228S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: C228S

Domain	Start	End	E-Value	Type
GLA	23	86	3.63e-31	SMART
EGF	120	155	4.39e-2	SMART
EGF_CA	157	200	6.91e-9	SMART
EGF_CA	201	242	5.23e-9	SMART
EGF_CA	243	283	1.1e-7	SMART
LamG	321	458	8.55e-22	SMART
LamG	506	646	1.57e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155940

Meta Mutation Damage Score

0.9568

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a vitamin K-dependent protein with key roles in multiple biological processes including coagulation, apoptosis and vasculogenesis. The encoded protein undergoes proteolytic processing to generate a mature protein which is secreted into the plasma. Mice lacking the encoded protein die in utero from a fulminant coagulopathy and associated hemorrhages. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with thrombosis, hemorrhage, and thrombocytopenia. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	A	17: 46,616,561 (GRCm39)	T1210I	probably benign	Het
Agbl1	T	C	7: 76,071,932 (GRCm39)	F581S	probably damaging	Het
Ambra1	A	T	2: 91,747,806 (GRCm39)	N1061Y	probably damaging	Het
Aoc1l1	G	A	6: 48,952,891 (GRCm39)	R272H	possibly damaging	Het
Arl6ip5	T	C	6: 97,209,361 (GRCm39)	L132S	probably damaging	Het
Atp10b	G	A	11: 43,125,207 (GRCm39)	V1058I	probably damaging	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Bpifa6	T	A	2: 153,832,815 (GRCm39)	I310N	probably damaging	Het
Btnl9	A	T	11: 49,060,143 (GRCm39)	L535*	probably null	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Catip	T	C	1: 74,408,159 (GRCm39)		probably benign	Het
Ccdc180	T	A	4: 45,921,996 (GRCm39)	S1023R	probably damaging	Het
Ces2g	G	A	8: 105,694,046 (GRCm39)	E461K	probably damaging	Het
Chad	C	A	11: 94,456,523 (GRCm39)	H200Q	possibly damaging	Het
Crbn	C	T	6: 106,772,159 (GRCm39)		probably null	Het
Crip3	G	C	17: 46,740,298 (GRCm39)	E33Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,040,894 (GRCm39)	R105S	probably damaging	Het
Dmxl1	C	T	18: 49,979,706 (GRCm39)	H114Y	probably benign	Het
Dpp3	T	C	19: 4,968,347 (GRCm39)	N242D	probably benign	Het
Dtx3l	T	C	16: 35,756,949 (GRCm39)	N78S	probably benign	Het
Dync2h1	A	G	9: 6,955,905 (GRCm39)		probably null	Het
Esrp1	A	G	4: 11,365,211 (GRCm39)	V260A	probably damaging	Het
Etfdh	A	G	3: 79,511,349 (GRCm39)	V544A	probably benign	Het
Ezhip	T	G	X: 5,994,754 (GRCm39)	E87A	probably benign	Het
Fcgr1	G	T	3: 96,193,233 (GRCm39)	H255N	possibly damaging	Het
Fcrl2	G	T	3: 87,164,655 (GRCm39)	Y290*	probably null	Het
Frem2	A	G	3: 53,559,935 (GRCm39)	V1524A	probably damaging	Het
Gabbr1	T	C	17: 37,382,758 (GRCm39)	I817T	probably damaging	Het
Gapdhs	G	C	7: 30,429,333 (GRCm39)		probably null	Het
Gm57858	A	G	3: 36,074,099 (GRCm39)	V350A	probably benign	Het
Gopc	A	T	10: 52,225,181 (GRCm39)	I356K	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Gpr171	A	G	3: 59,005,628 (GRCm39)	V49A	probably benign	Het
Greb1l	T	A	18: 10,554,857 (GRCm39)	N1634K	probably damaging	Het
Gria1	G	A	11: 57,076,775 (GRCm39)	R57H	probably damaging	Het
Herpud1	A	G	8: 95,121,241 (GRCm39)	E344G	probably benign	Het
Hhip	A	G	8: 80,771,810 (GRCm39)	F167L	probably damaging	Het
Hp1bp3	T	A	4: 137,953,209 (GRCm39)	D84E	probably damaging	Het
Ier3	A	G	17: 36,133,153 (GRCm39)	Y145C	probably damaging	Het
Ifi47	A	T	11: 48,987,474 (GRCm39)	I414L	probably benign	Het
Ifnl2	C	T	7: 28,209,638 (GRCm39)	A50T	possibly damaging	Het
Jade1	A	G	3: 41,546,185 (GRCm39)	Y70C	probably damaging	Het
Kif1b	A	T	4: 149,359,454 (GRCm39)	F94L	probably damaging	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,523 (GRCm39)	L26S	possibly damaging	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nae1	T	A	8: 105,256,700 (GRCm39)	D69V	probably damaging	Het
Nbr1	T	A	11: 101,463,643 (GRCm39)	V625E	possibly damaging	Het
Nek1	T	C	8: 61,542,807 (GRCm39)	L702P	probably damaging	Het
Ntf3	T	C	6: 126,078,689 (GRCm39)	*272W	probably null	Het
Ofcc1	A	C	13: 40,248,181 (GRCm39)	L651R	probably damaging	Het
Olfm3	A	T	3: 114,915,842 (GRCm39)		probably null	Het
Pcdhb19	C	T	18: 37,630,997 (GRCm39)	A264V	probably benign	Het
Pear1	C	A	3: 87,659,493 (GRCm39)	W780C	probably damaging	Het
Pkhd1	T	A	1: 20,635,863 (GRCm39)	H489L	probably benign	Het
Rbm10	G	A	X: 20,501,978 (GRCm39)	R9H	unknown	Het
Rwdd1	T	C	10: 33,878,466 (GRCm39)	E123G	probably damaging	Het
Slc22a2	G	T	17: 12,818,062 (GRCm39)	V213F	probably damaging	Het
Slc34a1	T	C	13: 24,004,991 (GRCm39)	I412T	probably benign	Het
Smarca2	A	T	19: 26,748,438 (GRCm39)	I98L	probably benign	Het
Spag6l	T	C	16: 16,595,203 (GRCm39)	E394G	probably damaging	Het
Spdef	T	C	17: 27,939,269 (GRCm39)	T26A	probably benign	Het
Stk17b	T	C	1: 53,815,731 (GRCm39)	I23V	probably benign	Het
Sult2a7	A	G	7: 14,225,818 (GRCm39)	I56T	probably damaging	Het
Tango6	T	A	8: 107,415,926 (GRCm39)		probably null	Het
Tex46	T	C	4: 136,337,844 (GRCm39)	L12P	possibly damaging	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc5cl	T	A	17: 48,766,974 (GRCm39)	I116N	possibly damaging	Het
Unc80	A	T	1: 66,657,417 (GRCm39)	I1630F	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Whrn	C	T	4: 63,336,385 (GRCm39)	V295M	possibly damaging	Het
Wrn	G	A	8: 33,819,230 (GRCm39)	P241S	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp687	A	T	3: 94,917,748 (GRCm39)	C675S	probably damaging	Het
Zfp954	A	G	7: 7,118,321 (GRCm39)	Y408H	possibly damaging	Het

Other mutations in Pros1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Pros1	APN	16	62,730,408 (GRCm39)	missense	probably damaging	0.99
IGL01300:Pros1	APN	16	62,734,174 (GRCm39)	missense	possibly damaging	0.85
IGL02709:Pros1	APN	16	62,719,308 (GRCm39)	missense	probably damaging	0.99
IGL03080:Pros1	APN	16	62,738,506 (GRCm39)	missense	probably damaging	0.98
IGL03095:Pros1	APN	16	62,728,132 (GRCm39)	nonsense	probably null
F6893:Pros1	UTSW	16	62,745,002 (GRCm39)	missense	probably damaging	0.98
R0124:Pros1	UTSW	16	62,734,309 (GRCm39)	missense	possibly damaging	0.95
R0517:Pros1	UTSW	16	62,723,881 (GRCm39)	missense	probably benign	0.03
R1113:Pros1	UTSW	16	62,734,228 (GRCm39)	missense	probably damaging	0.99
R1308:Pros1	UTSW	16	62,734,228 (GRCm39)	missense	probably damaging	0.99
R1355:Pros1	UTSW	16	62,739,921 (GRCm39)	missense	probably benign	0.23
R1370:Pros1	UTSW	16	62,739,921 (GRCm39)	missense	probably benign	0.23
R1517:Pros1	UTSW	16	62,705,875 (GRCm39)	missense	probably damaging	0.98
R1866:Pros1	UTSW	16	62,748,498 (GRCm39)	missense	possibly damaging	0.86
R1876:Pros1	UTSW	16	62,723,881 (GRCm39)	missense	probably damaging	0.96
R2364:Pros1	UTSW	16	62,734,211 (GRCm39)	missense	probably damaging	0.99
R2369:Pros1	UTSW	16	62,748,432 (GRCm39)	missense	probably damaging	1.00
R2979:Pros1	UTSW	16	62,734,229 (GRCm39)	missense	probably damaging	0.99
R3724:Pros1	UTSW	16	62,720,692 (GRCm39)	missense	possibly damaging	0.86
R4056:Pros1	UTSW	16	62,721,008 (GRCm39)	nonsense	probably null
R4556:Pros1	UTSW	16	62,721,036 (GRCm39)	missense	possibly damaging	0.95
R4688:Pros1	UTSW	16	62,709,370 (GRCm39)	critical splice donor site	probably null
R4850:Pros1	UTSW	16	62,705,887 (GRCm39)	missense	probably damaging	0.98
R4923:Pros1	UTSW	16	62,723,935 (GRCm39)	missense	possibly damaging	0.86
R5008:Pros1	UTSW	16	62,748,548 (GRCm39)	missense	possibly damaging	0.53
R5370:Pros1	UTSW	16	62,734,339 (GRCm39)	missense	probably benign	0.01
R5580:Pros1	UTSW	16	62,746,689 (GRCm39)	critical splice acceptor site	probably null
R5930:Pros1	UTSW	16	62,748,424 (GRCm39)	missense	probably damaging	0.96
R5974:Pros1	UTSW	16	62,721,030 (GRCm39)	missense	probably damaging	0.98
R6233:Pros1	UTSW	16	62,719,284 (GRCm39)	missense	possibly damaging	0.47
R6949:Pros1	UTSW	16	62,744,938 (GRCm39)	missense	probably benign	0.01
R7055:Pros1	UTSW	16	62,748,465 (GRCm39)	missense	possibly damaging	0.85
R7347:Pros1	UTSW	16	62,739,886 (GRCm39)	missense	probably damaging	0.97
R7375:Pros1	UTSW	16	62,744,913 (GRCm39)	missense	probably damaging	0.96
R7419:Pros1	UTSW	16	62,748,433 (GRCm39)	nonsense	probably null
R7980:Pros1	UTSW	16	62,748,516 (GRCm39)	missense	possibly damaging	0.86
R8234:Pros1	UTSW	16	62,748,540 (GRCm39)	missense	possibly damaging	0.73
R8479:Pros1	UTSW	16	62,728,102 (GRCm39)	missense	probably damaging	1.00
R8514:Pros1	UTSW	16	62,730,472 (GRCm39)	missense	probably benign	0.03
R8827:Pros1	UTSW	16	62,746,827 (GRCm39)	missense	probably benign	0.13
R9131:Pros1	UTSW	16	62,748,397 (GRCm39)	missense	probably damaging	0.96
R9484:Pros1	UTSW	16	62,744,887 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGTGCTCTTCCAAGACTGTTG -3'
(R):5'- ATGGGGTGAGTAATATTAAACCCC -3'

Sequencing Primer
(F):5'- GCTCTTCCAAGACTGTTGATATAAAC -3'
(R):5'- TTTGTTAAGAAAGCCTGCAACCAC -3'

Posted On

2014-10-16