Mutagenetix > Incidental Mutation

Incidental Mutation 'R4850:Pros1'

373494

Institutional Source

Beutler Lab

Gene Symbol

Pros1

Ensembl Gene

ENSMUSG00000022912

Gene Name

protein S (alpha)

Synonyms

protein S

MMRRC Submission

042462-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62674670-62749709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62705887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 67 (E67V)

Ref Sequence

ENSEMBL: ENSMUSP00000023629 (fasta)

Gene Model

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

AlphaFold

Q08761

Predicted Effect

probably damaging
Transcript: ENSMUST00000023629
AA Change: E67V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: E67V

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

Meta Mutation Damage Score

0.9354

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (79/80)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,709,429 (GRCm39)	A42T	probably benign	Het
Acsf3	T	C	8: 123,544,175 (GRCm39)	V551A	probably damaging	Het
Adgrl2	G	A	3: 148,564,656 (GRCm39)	T304I	probably damaging	Het
Akr1d1	A	G	6: 37,531,522 (GRCm39)		probably null	Het
Ankrd17	A	T	5: 90,412,645 (GRCm39)	H1226Q	probably damaging	Het
Arap1	T	C	7: 101,047,998 (GRCm39)	I847T	probably damaging	Het
Atad2b	G	A	12: 4,993,251 (GRCm39)	G257S	probably benign	Het
Cand2	A	T	6: 115,778,909 (GRCm39)	T1158S	probably benign	Het
Cic	G	A	7: 24,972,327 (GRCm39)	R686H	probably damaging	Het
Cldn1	T	A	16: 26,181,913 (GRCm39)	T99S	probably benign	Het
Cnga3	G	T	1: 37,297,087 (GRCm39)	E173*	probably null	Het
Cplane1	T	C	15: 8,292,422 (GRCm39)	S3012P	unknown	Het
Cryge	G	T	1: 65,090,211 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,376,445 (GRCm39)	L1410H	probably damaging	Het
Dync2h1	T	C	9: 7,134,364 (GRCm39)	T1548A	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Eml5	T	C	12: 98,756,878 (GRCm39)	D1917G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fn3krp	A	T	11: 121,315,879 (GRCm39)	H90L	possibly damaging	Het
Garin2	A	G	12: 78,761,927 (GRCm39)	D197G	probably damaging	Het
Gm10718	A	T	9: 3,023,716 (GRCm39)	T56S	probably benign	Het
Gm4847	A	T	1: 166,469,908 (GRCm39)	I55K	probably damaging	Het
Gsn	T	A	2: 35,173,912 (GRCm39)		probably null	Het
H2bc11	G	T	13: 22,227,421 (GRCm39)		probably benign	Het
Haghl	T	C	17: 26,001,980 (GRCm39)		probably benign	Het
Hmg20b	T	A	10: 81,182,761 (GRCm39)	E139V	probably damaging	Het
Hsd3b6	G	A	3: 98,715,221 (GRCm39)	T57I	probably benign	Het
Igkv5-48	A	G	6: 69,703,780 (GRCm39)	S42P	probably damaging	Het
Igsf23	T	C	7: 19,687,859 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,798,112 (GRCm39)	F874L	probably damaging	Het
Maf1	T	C	15: 76,237,162 (GRCm39)	F110L	possibly damaging	Het
Mtpap	C	T	18: 4,387,044 (GRCm39)	R365W	probably damaging	Het
Mtus1	A	C	8: 41,537,507 (GRCm39)	S70A	possibly damaging	Het
Nfatc1	T	A	18: 80,741,080 (GRCm39)	T307S	probably benign	Het
Nphs1	T	G	7: 30,162,657 (GRCm39)	S379A	possibly damaging	Het
Nup205	A	G	6: 35,207,465 (GRCm39)	T1506A	probably benign	Het
Or13f5	T	C	4: 52,825,450 (GRCm39)	S18P	possibly damaging	Het
Or8u9	T	A	2: 86,002,015 (GRCm39)	I49F	probably damaging	Het
Pcdhga8	A	T	18: 37,860,762 (GRCm39)	Y606F	probably damaging	Het
Pde7a	A	G	3: 19,297,281 (GRCm39)	V123A	probably benign	Het
Pex1	C	T	5: 3,674,426 (GRCm39)	T809I	probably benign	Het
Prdm13	C	A	4: 21,678,243 (GRCm39)	R749L	possibly damaging	Het
Prkcd	A	G	14: 30,321,700 (GRCm39)	L498P	probably damaging	Het
Rab44	A	G	17: 29,359,063 (GRCm39)	E417G	possibly damaging	Het
Rangrf	A	G	11: 68,864,466 (GRCm39)		probably null	Het
Rp1	T	A	1: 4,418,898 (GRCm39)	K738M	probably damaging	Het
Ryr2	A	T	13: 11,683,706 (GRCm39)	D3119E	probably damaging	Het
Ryr2	G	A	13: 11,760,638 (GRCm39)	R1482C	probably damaging	Het
Sbspon	T	A	1: 15,929,192 (GRCm39)	T200S	probably damaging	Het
Sfxn5	T	C	6: 85,309,358 (GRCm39)		probably benign	Het
Slc26a8	T	A	17: 28,873,857 (GRCm39)	I377F	probably benign	Het
Slc30a7	A	G	3: 115,786,657 (GRCm39)	F72L	probably damaging	Het
Slc32a1	T	C	2: 158,456,112 (GRCm39)	F256L	possibly damaging	Het
Slco6b1	T	C	1: 96,839,558 (GRCm39)		noncoding transcript	Het
Smpd1	A	G	7: 105,205,192 (GRCm39)	H357R	probably benign	Het
Sncaip	A	T	18: 53,004,456 (GRCm39)	H361L	probably damaging	Het
Tenm2	A	C	11: 35,914,315 (GRCm39)	Y2406*	probably null	Het
Terb1	T	A	8: 105,212,057 (GRCm39)	H308L	probably benign	Het
Trim61	A	T	8: 65,466,070 (GRCm39)	L397H	probably damaging	Het
Trp53bp1	T	A	2: 121,035,594 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,611,899 (GRCm39)	E9007D	possibly damaging	Het
Urb1	A	T	16: 90,592,302 (GRCm39)	C319*	probably null	Het
Vmn2r95	T	C	17: 18,671,915 (GRCm39)	Y551H	probably damaging	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Xdh	A	G	17: 74,205,330 (GRCm39)	L1045P	probably damaging	Het
Zfp638	T	C	6: 83,956,457 (GRCm39)	I1688T	possibly damaging	Het
Zwint	T	A	10: 72,491,788 (GRCm39)		probably benign	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
R2255:Pros1	UTSW	16	62,723,935 (GRCm39)	missense	possibly damaging	0.86
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
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'- ACCTGCTGCTTGAGTTGTTAAC -3'
(R):5'- TGGCAGTCTTCCTGAAGTGAC -3'

Sequencing Primer
(F):5'- CTGCTGCTTGAGTTGTTAACCAAAG -3'
(R):5'- CTGAAGTGACAGGGTGACAC -3'

Posted On

2016-03-01