Mutagenetix > Incidental Mutation

Incidental Mutation 'R8827:Pros1'

673572

Institutional Source

Beutler Lab

Gene Symbol

Pros1

Ensembl Gene

ENSMUSG00000022912

Gene Name

protein S (alpha)

Synonyms

protein S

MMRRC Submission

Accession Numbers

Genbank: NM_011173; MGI: 1095733

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8827 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62854307-62929346 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62926464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 593 (V593A)

Ref Sequence

ENSEMBL: ENSMUSP00000023629 (fasta)

Gene Model

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

AlphaFold

Q08761

Predicted Effect

probably benign
Transcript: ENSMUST00000023629
AA Change: V593A

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: V593A

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

Coding Region Coverage

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

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	G	T	6: 96,165,312	N250K	probably benign	Het
4932415D10Rik	T	A	10: 82,293,783	Q1131L	probably benign	Het
Adamts3	T	C	5: 89,691,465	I810V	probably benign	Het
Adcy7	T	C	8: 88,309,699	F128S	possibly damaging	Het
Ankhd1	C	T	18: 36,624,580	Q188*	probably null	Het
Asxl2	A	T	12: 3,500,501	I748L	probably benign	Het
Atp8b2	T	C	3: 89,946,000	N70S		Het
Bmp1	A	G	14: 70,490,642	Y616H	probably damaging	Het
Brap	T	A	5: 121,672,198	D248E	probably benign	Het
Ccdc13	G	A	9: 121,816,699	S294L	probably benign	Het
Ccdc130	T	A	8: 84,260,358	Q170L	possibly damaging	Het
Cdkl1	T	C	12: 69,747,349	Y338C	probably benign	Het
Cfap54	A	T	10: 92,938,248	S1993T	unknown	Het
Chl1	G	T	6: 103,693,150	M500I	probably benign	Het
Cntn3	G	C	6: 102,269,133	L352V	probably benign	Het
Cog6	T	C	3: 52,983,114	D635G	probably benign	Het
Col22a1	C	A	15: 71,902,816		probably null	Het
Cyp3a16	A	T	5: 145,450,198	D327E	probably benign	Het
D6Ertd527e	A	T	6: 87,111,244	S130C	unknown	Het
Dhodh	T	C	8: 109,608,296		probably benign	Het
Dirc2	A	T	16: 35,733,950	C274S	probably benign	Het
Dync2li1	C	T	17: 84,647,651	S246L	possibly damaging	Het
Eif3c	A	T	7: 126,558,722	F316Y	probably damaging	Het
Esp34	A	T	17: 38,554,200		probably benign	Het
Fam98a	T	C	17: 75,544,829	M86V	possibly damaging	Het
Gm29394	G	T	15: 58,069,321	Q7K	probably damaging	Het
Gtf2i	C	T	5: 134,240,242		probably null	Het
Hecw1	A	G	13: 14,264,135	Y888H	probably damaging	Het
Hist3h2ba	C	T	11: 58,949,091	P51L	probably benign	Het
Kcnma1	A	T	14: 23,367,480	W894R	probably damaging	Het
Klhl25	C	A	7: 75,866,643	D432E	possibly damaging	Het
Klhl7	G	A	5: 24,158,637		probably null	Het
Lamc1	A	T	1: 153,221,678	L1540Q	probably damaging	Het
Map3k5	T	A	10: 20,026,257	V358E	probably damaging	Het
Map4k5	C	T	12: 69,856,861	D57N	possibly damaging	Het
Mpped2	T	C	2: 106,861,583	M211T	possibly damaging	Het
Nat9	T	C	11: 115,184,513	T101A	probably benign	Het
Nprl3	A	T	11: 32,234,742	F447L	probably benign	Het
Olfr1140	C	T	2: 87,746,433	P79L	possibly damaging	Het
Olfr1184	T	C	2: 88,486,821	S30P	probably damaging	Het
Olfr192	G	A	16: 59,098,698	T98I	unknown	Het
Orc3	A	T	4: 34,605,569	F104Y	probably benign	Het
Pcdha6	T	A	18: 36,969,749	V665E	probably damaging	Het
Pdpk1	T	C	17: 24,088,217	D380G	probably benign	Het
Phkg1	T	A	5: 129,865,053	E280D	probably benign	Het
Pkdrej	T	A	15: 85,815,531	Y2068F	possibly damaging	Het
Plekhg5	A	G	4: 152,107,005		probably benign	Het
Plekhh3	G	A	11: 101,167,554	P222L	probably damaging	Het
Prdm1	A	T	10: 44,458,480	V10E	probably benign	Het
Prdm6	G	T	18: 53,568,195	Q513H	probably damaging	Het
Radil	T	C	5: 142,508,104	H250R	probably damaging	Het
Rasa2	C	T	9: 96,552,350	R628Q	probably damaging	Het
Ryr2	T	C	13: 11,558,048	E4884G	possibly damaging	Het
Shh	A	G	5: 28,458,127	S348P	probably damaging	Het
Slc1a4	A	T	11: 20,320,237		probably benign	Het
Slc32a1	A	C	2: 158,611,354	D38A	probably damaging	Het
Slc35f3	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,041		probably benign	Het
Slc45a4	A	T	15: 73,586,467	I411N	probably benign	Het
Slc7a10	C	A	7: 35,197,888	S248Y	probably damaging	Het
Smc3	T	A	19: 53,622,654	D258E	probably benign	Het
Sphk1	A	G	11: 116,535,764	D182G	probably damaging	Het
Srgap3	A	G	6: 112,739,341	Y633H	probably damaging	Het
Sspo	T	G	6: 48,457,672	F1033V	possibly damaging	Het
Syne2	T	C	12: 76,048,583	V488A	probably benign	Het
Tead1	A	C	7: 112,876,242	K299N	probably damaging	Het
Tmem150c	A	C	5: 100,092,795	S69R	probably damaging	Het
Tnfaip3	T	A	10: 19,005,047	K424M	probably damaging	Het
Trib3	A	G	2: 152,338,268	V335A	possibly damaging	Het
Ttc39c	G	A	18: 12,695,379	V199I	probably benign	Het
Vangl1	A	T	3: 102,163,420	F400Y	probably damaging	Het
Vmn2r106	A	T	17: 20,267,606	S844T	probably benign	Het
Wwtr1	A	G	3: 57,575,195	V77A	probably damaging	Het
Zc3h4	C	A	7: 16,429,198	P500T	unknown	Het
Zfand2a	C	T	5: 139,474,852		probably null	Het
Zfr2	A	G	10: 81,242,785	T284A	probably benign	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
R1876:Pros1	UTSW	16	62903518	missense	probably damaging	0.96
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
R7980:Pros1	UTSW	16	62928153	missense	possibly damaging	0.86
R8234:Pros1	UTSW	16	62928177	missense	possibly damaging	0.73
R8479:Pros1	UTSW	16	62907739	missense	probably damaging	1.00
R8514:Pros1	UTSW	16	62910109	missense	probably benign	0.03
R9131:Pros1	UTSW	16	62928034	missense	probably damaging	0.96
R9484:Pros1	UTSW	16	62924524	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACAGAGTCTTTCCTAAGTGGCTTTG -3'
(R):5'- GTGTAAAGGGTATTTGAAGCATGTC -3'

Sequencing Primer
(F):5'- GCCCTCAGTATTGTTTATATGAAGTC -3'
(R):5'- CTCACAGGTAGGTAGATCTCTGAC -3'

Posted On

2021-07-15