Mutagenetix > Incidental Mutation

Incidental Mutation 'R7055:Pros1'

547887

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62854307-62929346 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62928102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 646 (V646A)

Ref Sequence

ENSEMBL: ENSMUSP00000023629 (fasta)

Gene Model

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

AlphaFold

Q08761

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023629
AA Change: V646A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: V646A

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,226,221	S178P	probably damaging	Het
2610008E11Rik	C	T	10: 79,067,847	E212K	probably damaging	Het
Abcc4	A	T	14: 118,594,785	L736*	probably null	Het
Acmsd	A	T	1: 127,753,833	M178L	probably benign	Het
Adpgk	T	A	9: 59,313,193	M266K	possibly damaging	Het
Aldh1b1	G	A	4: 45,802,909	R149H	possibly damaging	Het
Aox2	A	G	1: 58,299,768	T307A	probably benign	Het
C1galt1	T	C	6: 7,866,585	Y144H	probably damaging	Het
Cabin1	G	C	10: 75,743,283	Q440E	probably benign	Het
Casq2	A	G	3: 102,142,245	S231G	probably damaging	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Cdan1	A	G	2: 120,727,861	I490T	probably damaging	Het
Cep170b	T	A	12: 112,735,715	V314E	probably damaging	Het
Col4a4	T	C	1: 82,519,036	E413G	unknown	Het
Cyp3a25	A	C	5: 145,992,991	F189L	probably benign	Het
Dido1	T	A	2: 180,661,209	H1634L	probably benign	Het
Dnaja2	A	C	8: 85,548,674	V156G	probably benign	Het
Dpy19l4	T	C	4: 11,290,291		probably null	Het
Eomes	A	T	9: 118,480,499	N240I	possibly damaging	Het
Fads6	A	G	11: 115,285,403	F199L	probably benign	Het
Fbrs	T	C	7: 127,487,784		probably null	Het
Fndc4	T	C	5: 31,294,178	E153G	probably benign	Het
Fv1	TTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTC	4: 147,870,318		probably null	Het
Fzr1	T	C	10: 81,370,223	Y210C	probably damaging	Het
Gjc2	T	A	11: 59,177,030	M209L	unknown	Het
Gpr33	A	G	12: 52,024,253	M1T	probably null	Het
Gtf2a1	A	T	12: 91,586,749	I28N	possibly damaging	Het
Igf2r	A	C	17: 12,704,323	Y1200D	probably damaging	Het
Ivd	C	T	2: 118,873,249	T212I	probably damaging	Het
Jag1	A	G	2: 137,115,489	V101A	probably benign	Het
Kansl3	A	T	1: 36,365,620	V83D	possibly damaging	Het
Krt81	T	A	15: 101,461,125	I249F	probably benign	Het
Krtap21-1	G	A	16: 89,403,703	S17L	unknown	Het
Macf1	A	T	4: 123,409,196	H504Q	probably benign	Het
Map2	A	G	1: 66,416,824	T1499A	probably damaging	Het
Map3k9	T	C	12: 81,724,208	T892A	probably damaging	Het
Mcl1	G	A	3: 95,659,799	V178I	probably benign	Het
Mrs2	T	A	13: 25,004,954	M126L	probably benign	Het
Msantd1	C	A	5: 34,917,661	N9K	probably benign	Het
Myh9	C	T	15: 77,775,198	R116H	probably damaging	Het
Nfib	A	T	4: 82,330,425	D308E	probably benign	Het
Nme2	T	A	11: 93,955,590	I11F	probably damaging	Het
Nmnat3	A	G	9: 98,410,233	D111G	probably benign	Het
Olfr1164	T	A	2: 88,093,701	L78F	probably damaging	Het
Papss2	T	C	19: 32,664,427	W501R	probably damaging	Het
Parn	A	G	16: 13,626,134	I384T	possibly damaging	Het
Pcdhb18	A	G	18: 37,490,811	D398G	possibly damaging	Het
Pdcl2	T	C	5: 76,317,924	N102D	probably benign	Het
Pdzrn3	C	A	6: 101,151,774	E644*	probably null	Het
Pi4ka	T	A	16: 17,317,015		probably benign	Het
Polg2	A	G	11: 106,777,214	F216L	probably damaging	Het
Prkcsh	A	G	9: 22,013,161	*522W	probably null	Het
Prkcz	G	T	4: 155,289,634	D108E	probably benign	Het
Ptprc	A	G	1: 138,089,571	I483T	probably damaging	Het
Rabep2	T	C	7: 126,445,313	I527T	possibly damaging	Het
Rad50	T	C	11: 53,688,102	K543R	probably benign	Het
Samd4b	A	G	7: 28,404,033	I553T	probably benign	Het
Sbpl	A	T	17: 23,953,302	N214K	unknown	Het
Scgb2b11	C	T	7: 32,210,482	E60K	possibly damaging	Het
Sgk3	G	A	1: 9,886,059	E331K	probably damaging	Het
Snx6	A	T	12: 54,784,079	L32Q	probably damaging	Het
Srgap3	T	A	6: 112,746,963	Q512L	probably damaging	Het
Srsf12	A	G	4: 33,226,157	D135G	probably damaging	Het
Steap4	A	G	5: 7,976,858	T274A	probably damaging	Het
Svep1	A	T	4: 58,064,275	V3236D	probably benign	Het
Svep1	A	T	4: 58,120,642	F797Y	probably benign	Het
Tmem116	T	C	5: 121,467,924	L113P	probably damaging	Het
Tnfrsf1b	A	G	4: 145,224,887	V161A	probably damaging	Het
Tnpo1	G	T	13: 98,855,479	Q622K	possibly damaging	Het
Top1mt	A	G	15: 75,678,674	V28A	probably benign	Het
Trim25	T	C	11: 88,999,924	S146P	probably benign	Het
Tuba3b	A	G	6: 145,621,209	D392G	possibly damaging	Het
Utrn	C	T	10: 12,747,921	R191Q	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdfy2	T	A	14: 62,900,299	S84T	probably benign	Het
Zfp873	T	A	10: 82,059,998	F225I	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
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
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
R8827:Pros1	UTSW	16	62926464	missense	probably benign	0.13
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'- GCCCAGCATAGCCTGTTTTC -3'
(R):5'- TGCACGTCACAGGTAACAC -3'

Sequencing Primer
(F):5'- CAGCATAGCCTGTTTTCTGAAC -3'
(R):5'- ACCTGCCAGCTGGTGATAG -3'

Posted On

2019-05-13