Mutagenetix > Incidental Mutations

Incidental Mutation 'R1876:Pros1'

211265

Institutional Source

Beutler Lab

Gene Symbol

Pros1

Ensembl Gene

ENSMUSG00000022912

Gene Name

protein S (alpha)

Synonyms

protein S

MMRRC Submission

039898-MU

Accession Numbers

Genbank: NM_011173; MGI: 1095733

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62854307-62929346 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62903518 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 210 (S210C)

Ref Sequence

ENSEMBL: ENSMUSP00000023629 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023629
AA Change: S210C

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: S210C

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

0.2026

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.2%

Validation Efficiency

99% (82/83)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 76,877,549	C961F	probably damaging	Het
Abca16	A	C	7: 120,433,385	D209A	probably damaging	Het
Adamts14	T	C	10: 61,200,372	I1047V	probably benign	Het
Ak1	A	G	2: 32,630,270	K27E	probably damaging	Het
Akap9	T	A	5: 3,961,809	D837E	probably benign	Het
Arfgef3	T	C	10: 18,597,356	Y1653C	probably damaging	Het
Atad2	T	G	15: 58,106,868	I446L	probably benign	Het
Atp8b3	T	G	10: 80,530,078	T313P	possibly damaging	Het
Btg4	T	C	9: 51,117,189	L72S	probably damaging	Het
Canx	A	G	11: 50,304,359	I294T	probably damaging	Het
Casp1	G	A	9: 5,303,663	E250K	probably benign	Het
Chchd10	T	A	10: 75,936,332	S46T	probably benign	Het
Col12a1	G	T	9: 79,678,281	Y1271*	probably null	Het
Col3a1	G	A	1: 45,342,235		probably null	Het
Ctc1	A	T	11: 69,031,564	T872S	probably benign	Het
Cx3cl1	T	C	8: 94,780,420	F351S	probably damaging	Het
Cyb5r4	T	A	9: 87,055,814	H295Q	probably damaging	Het
Cyp2j7	T	C	4: 96,217,419	T285A	probably benign	Het
Dip2a	G	A	10: 76,318,091	T135M	probably damaging	Het
Fgf10	A	G	13: 118,789,159	E158G	probably damaging	Het
Ftcd	G	T	10: 76,581,569	A281S	probably benign	Het
Gm16368	T	G	12: 88,084,040	I115S	probably damaging	Het
Gpat4	A	T	8: 23,179,470	M333K	possibly damaging	Het
Gpcpd1	A	G	2: 132,534,753	L541P	probably damaging	Het
Grk5	T	C	19: 61,083,225	Y408H	probably damaging	Het
Hcrtr2	A	G	9: 76,246,345		probably null	Het
Hsd17b13	T	A	5: 103,968,767	N127I	probably damaging	Het
Hspa4	T	G	11: 53,284,156	D158A	probably benign	Het
Ice2	G	A	9: 69,415,575	A451T	possibly damaging	Het
Inpp5e	A	T	2: 26,408,157	I144K	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lrrc49	T	C	9: 60,587,777	I652V	possibly damaging	Het
Man1a	A	T	10: 53,919,172	W571R	probably damaging	Het
Mecom	A	G	3: 29,993,658	S32P	probably damaging	Het
Mrpl40	A	G	16: 18,872,474	I162T	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtmr12	T	C	15: 12,257,630	W265R	probably damaging	Het
Mup21	C	T	4: 62,149,426	V79I	probably benign	Het
Myh11	G	A	16: 14,269,103		probably benign	Het
Myom3	T	A	4: 135,779,400	F495I	probably benign	Het
Ncoa7	A	T	10: 30,698,126		probably benign	Het
Nisch	T	C	14: 31,173,637	Y45C	probably damaging	Het
Nkain2	T	A	10: 32,890,439		probably benign	Het
Olfr356	A	T	2: 36,937,763	I215F	possibly damaging	Het
Olfr728	A	G	14: 50,140,172	S156P	probably damaging	Het
Pdcl	A	C	2: 37,355,696	H98Q	probably damaging	Het
Pink1	A	G	4: 138,315,702	V427A	probably damaging	Het
Plce1	T	C	19: 38,780,623	S2242P	probably damaging	Het
Plrg1	C	A	3: 83,069,068		probably benign	Het
Plxnc1	A	G	10: 94,866,941	F586S	possibly damaging	Het
Pnpla7	G	A	2: 25,040,973	V867M	possibly damaging	Het
Ppfia3	T	A	7: 45,352,207	D427V	possibly damaging	Het
Ppp6r3	A	T	19: 3,471,971		probably benign	Het
Ptk2b	A	G	14: 66,158,392	S839P	probably benign	Het
Ptpre	T	C	7: 135,678,317	V570A	possibly damaging	Het
Rbm48	C	T	5: 3,595,259	A142T	probably damaging	Het
Safb2	T	C	17: 56,576,909		probably null	Het
Scnn1a	A	G	6: 125,338,838	E384G	probably benign	Het
Sec23ip	A	G	7: 128,752,851	Y277C	probably benign	Het
Slc25a29	G	A	12: 108,827,711	T42M	probably damaging	Het
Slc6a4	A	T	11: 77,015,164	T264S	probably benign	Het
Srgap3	A	G	6: 112,775,566	M319T	probably damaging	Het
Strn4	T	A	7: 16,838,282	I640N	probably damaging	Het
Tacc2	A	G	7: 130,623,745	D739G	probably benign	Het
Tigd4	T	A	3: 84,593,935	L53*	probably null	Het
Tlr6	T	A	5: 64,955,420	D48V	probably damaging	Het
Tmem125	T	C	4: 118,541,904	D110G	probably damaging	Het
Tmem198	A	G	1: 75,484,923	D341G	probably damaging	Het
Tnfaip3	A	G	10: 19,004,934	F462L	possibly damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Ush2a	T	A	1: 188,678,289	I2378N	possibly damaging	Het
Usp47	A	G	7: 112,054,920	T108A	probably damaging	Het
Vmn1r236	T	A	17: 21,286,638	I6K	probably benign	Het
Vmn2r65	A	T	7: 84,946,297	V393D	probably damaging	Het

Other mutations in Pros1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Pros1	APN	16	62910045	missense	probably damaging	0.99
IGL01300:Pros1	APN	16	62913811	missense	possibly damaging	0.85
IGL02709:Pros1	APN	16	62898945	missense	probably damaging	0.99
IGL03080:Pros1	APN	16	62918143	missense	probably damaging	0.98
IGL03095:Pros1	APN	16	62907769	nonsense	probably null
F6893:Pros1	UTSW	16	62924639	missense	probably damaging	0.98
R0124:Pros1	UTSW	16	62913946	missense	possibly damaging	0.95
R0517:Pros1	UTSW	16	62903518	missense	probably benign	0.03
R1113:Pros1	UTSW	16	62913865	missense	probably damaging	0.99
R1308:Pros1	UTSW	16	62913865	missense	probably damaging	0.99
R1355:Pros1	UTSW	16	62919558	missense	probably benign	0.23
R1370:Pros1	UTSW	16	62919558	missense	probably benign	0.23
R1517:Pros1	UTSW	16	62885512	missense	probably damaging	0.98
R1866:Pros1	UTSW	16	62928135	missense	possibly damaging	0.86
R2255:Pros1	UTSW	16	62903572	missense	possibly damaging	0.86
R2364:Pros1	UTSW	16	62913848	missense	probably damaging	0.99
R2369:Pros1	UTSW	16	62928069	missense	probably damaging	1.00
R2979:Pros1	UTSW	16	62913866	missense	probably damaging	0.99
R3724:Pros1	UTSW	16	62900329	missense	possibly damaging	0.86
R4056:Pros1	UTSW	16	62900645	nonsense	probably null
R4556:Pros1	UTSW	16	62900673	missense	possibly damaging	0.95
R4688:Pros1	UTSW	16	62889007	critical splice donor site	probably null
R4850:Pros1	UTSW	16	62885524	missense	probably damaging	0.98
R4923:Pros1	UTSW	16	62903572	missense	possibly damaging	0.86
R5008:Pros1	UTSW	16	62928185	missense	possibly damaging	0.53
R5370:Pros1	UTSW	16	62913976	missense	probably benign	0.01
R5580:Pros1	UTSW	16	62926326	critical splice acceptor site	probably null
R5930:Pros1	UTSW	16	62928061	missense	probably damaging	0.96
R5974:Pros1	UTSW	16	62900667	missense	probably damaging	0.98
R6233:Pros1	UTSW	16	62898921	missense	possibly damaging	0.47
R6949:Pros1	UTSW	16	62924575	missense	probably benign	0.01
R7055:Pros1	UTSW	16	62928102	missense	possibly damaging	0.85
R7347:Pros1	UTSW	16	62919523	missense	probably damaging	0.97
R7375:Pros1	UTSW	16	62924550	missense	probably damaging	0.96
R7419:Pros1	UTSW	16	62928070	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATTAGGCAAACTTCCCATGAATTC -3'
(R):5'- AAGCTGCATCAGGGGTTAGC -3'

Sequencing Primer
(F):5'- GTGCTCTTCCAAGACTGT -3'
(R):5'- TGCATCAGGGGTTAGCAAAAGTATTG -3'

Posted On

2014-06-30