Mutagenetix > Incidental Mutation

Incidental Mutation 'R5443:Plg'

427301

Institutional Source

Beutler Lab

Gene Symbol

Plg

Ensembl Gene

ENSMUSG00000059481

Gene Name

plasminogen

Synonyms

MMRRC Submission

043008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R5443 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12597496-12638271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12601070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 51 (A51T)

Ref Sequence

ENSEMBL: ENSMUSP00000014578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014578]

AlphaFold

P20918

Predicted Effect

probably benign
Transcript: ENSMUST00000014578
AA Change: A51T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: A51T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PAN_AP	20	97	8.67e-14	SMART
KR	101	183	1.31e-41	SMART
KR	184	264	5.4e-43	SMART
KR	273	354	3.45e-50	SMART
KR	375	456	3.9e-49	SMART
KR	479	562	5.53e-40	SMART
Tryp_SPc	581	805	4.11e-94	SMART

Meta Mutation Damage Score

0.4968

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.9%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted blood zymogen that is activated by proteolysis and converted to plasmin and angiostatin. Plasmin dissolves fibrin in blood clots and is an important protease in many other cellular processes while angiostatin inhibits angiogenesis. Defects in this gene are likely a cause of thrombophilia and ligneous conjunctivitis. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous null mutants exhibit retarded growth, variable rectal prolapse, impaired fertility and lactation in females, early mortality, and widespread fibrin deposition and thrombotic lesions in liver, lung, stomach and other tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,576 (GRCm39)	E795D	probably damaging	Het
Aldh6a1	T	C	12: 84,484,745 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,273,151 (GRCm39)		probably null	Het
Arhgap39	G	A	15: 76,682,125 (GRCm39)		probably benign	Het
AW551984	T	C	9: 39,509,325 (GRCm39)	E272G	possibly damaging	Het
C1qc	G	A	4: 136,619,804 (GRCm39)		probably benign	Het
Carhsp1	C	A	16: 8,482,203 (GRCm39)	R26L	probably benign	Het
Cdh12	G	T	15: 21,237,935 (GRCm39)	V57L	probably benign	Het
Cfap298	G	T	16: 90,724,099 (GRCm39)	Q168K	probably benign	Het
Clec3a	A	G	8: 115,144,893 (GRCm39)	Y23C	probably benign	Het
Crebrf	G	C	17: 26,961,328 (GRCm39)	V150L	probably damaging	Het
Ddx41	G	T	13: 55,683,104 (GRCm39)	A201E	probably benign	Het
Doc2b	T	C	11: 75,670,921 (GRCm39)	K237E	probably damaging	Het
Dst	T	C	1: 34,267,620 (GRCm39)	S5199P	probably damaging	Het
Efnb2	A	G	8: 8,670,862 (GRCm39)	I129T	probably damaging	Het
Epg5	A	G	18: 78,070,712 (GRCm39)	E2329G	possibly damaging	Het
Esrrg	A	C	1: 187,775,622 (GRCm39)	T27P	possibly damaging	Het
Fah	T	A	7: 84,241,604 (GRCm39)	R316W	probably damaging	Het
Fat4	T	C	3: 39,064,519 (GRCm39)	L4825P	probably damaging	Het
Gabbr1	T	C	17: 37,381,648 (GRCm39)	V804A	probably damaging	Het
Gm1322	G	A	2: 67,015,012 (GRCm39)		noncoding transcript	Het
Gm5114	T	A	7: 39,058,289 (GRCm39)	K443N	probably benign	Het
Gnai2	T	C	9: 107,497,386 (GRCm39)	I3V	probably damaging	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Klf15	C	A	6: 90,444,342 (GRCm39)	Q306K	possibly damaging	Het
Ly6a2	A	T	15: 75,005,568 (GRCm39)		noncoding transcript	Het
Maco1	A	T	4: 134,560,619 (GRCm39)	C121*	probably null	Het
Necab2	A	T	8: 120,195,032 (GRCm39)	M295L	probably benign	Het
Nrg1	A	T	8: 32,339,348 (GRCm39)	Y208N	probably damaging	Het
Nup88	A	T	11: 70,849,256 (GRCm39)	Y232*	probably null	Het
Oacyl	A	G	18: 65,883,253 (GRCm39)	R611G	probably benign	Het
Oasl1	T	C	5: 115,074,129 (GRCm39)		probably null	Het
Or2n1e	T	A	17: 38,585,905 (GRCm39)	M81K	probably damaging	Het
Or2y14	G	T	11: 49,405,262 (GRCm39)	G266C	probably damaging	Het
Or52h7	T	C	7: 104,213,583 (GRCm39)	Y52H	probably benign	Het
Or8k25	A	C	2: 86,243,937 (GRCm39)	I153R	possibly damaging	Het
Pate4	A	C	9: 35,519,170 (GRCm39)	S66A	possibly damaging	Het
Pigl	T	A	11: 62,349,309 (GRCm39)	C8*	probably null	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppig	A	T	2: 69,564,635 (GRCm39)	D97V	probably damaging	Het
Ppp1r16a	A	G	15: 76,578,846 (GRCm39)	K517E	possibly damaging	Het
Prr16	A	T	18: 51,436,225 (GRCm39)	S235C	probably damaging	Het
Psmd1	G	A	1: 86,017,905 (GRCm39)	R572H	probably damaging	Het
Sbf2	T	C	7: 109,977,135 (GRCm39)		probably benign	Het
Scrt2	A	T	2: 151,924,043 (GRCm39)	Y25F	probably benign	Het
Sema6d	A	T	2: 124,498,756 (GRCm39)	H222L	probably damaging	Het
Septin2	A	G	1: 93,425,174 (GRCm39)	N110S	possibly damaging	Het
Shpk	G	A	11: 73,113,607 (GRCm39)	G340D	possibly damaging	Het
Smg5	T	A	3: 88,261,896 (GRCm39)	L723H	probably damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spo11	T	C	2: 172,831,152 (GRCm39)		probably benign	Het
Srarp	T	A	4: 141,163,388 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tm9sf2	A	T	14: 122,363,607 (GRCm39)	Y109F	probably damaging	Het
Tpcn2	A	T	7: 144,809,209 (GRCm39)	M699K	possibly damaging	Het
Trim34a	T	C	7: 103,909,420 (GRCm39)	F289S	possibly damaging	Het
Trim39	T	C	17: 36,571,645 (GRCm39)	H371R	probably damaging	Het
Usp48	T	A	4: 137,348,532 (GRCm39)	I11N	possibly damaging	Het
Zbtb10	T	C	3: 9,345,108 (GRCm39)	F677L	probably benign	Het
Zer1	C	T	2: 30,001,008 (GRCm39)	G138S	probably damaging	Het
Zfp612	A	G	8: 110,816,227 (GRCm39)	K439R	possibly damaging	Het

Other mutations in Plg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Plg	APN	17	12,630,380 (GRCm39)	missense	probably damaging	1.00
IGL01128:Plg	APN	17	12,615,586 (GRCm39)	splice site	probably benign
IGL01522:Plg	APN	17	12,622,956 (GRCm39)	missense	probably damaging	1.00
IGL01981:Plg	APN	17	12,621,934 (GRCm39)	splice site	probably benign
IGL03338:Plg	APN	17	12,637,959 (GRCm39)	missense	probably damaging	1.00
elder	UTSW	17	12,609,107 (GRCm39)	nonsense	probably null
oldster	UTSW	17	12,614,641 (GRCm39)	missense	probably damaging	1.00
R0391:Plg	UTSW	17	12,637,968 (GRCm39)	missense	probably damaging	1.00
R0531:Plg	UTSW	17	12,630,334 (GRCm39)	splice site	probably benign
R0646:Plg	UTSW	17	12,637,623 (GRCm39)	missense	probably damaging	1.00
R0759:Plg	UTSW	17	12,629,838 (GRCm39)	missense	probably damaging	1.00
R1013:Plg	UTSW	17	12,597,608 (GRCm39)	splice site	probably benign
R2116:Plg	UTSW	17	12,603,364 (GRCm39)	missense	probably damaging	0.99
R2442:Plg	UTSW	17	12,629,847 (GRCm39)	missense	probably benign	0.15
R2512:Plg	UTSW	17	12,622,116 (GRCm39)	missense	probably benign
R2879:Plg	UTSW	17	12,622,987 (GRCm39)	missense	possibly damaging	0.92
R3107:Plg	UTSW	17	12,603,316 (GRCm39)	missense	probably benign	0.00
R3405:Plg	UTSW	17	12,622,096 (GRCm39)	missense	possibly damaging	0.65
R4409:Plg	UTSW	17	12,609,150 (GRCm39)	missense	probably damaging	1.00
R4861:Plg	UTSW	17	12,614,622 (GRCm39)	missense	probably benign	0.00
R4861:Plg	UTSW	17	12,614,622 (GRCm39)	missense	probably benign	0.00
R4977:Plg	UTSW	17	12,621,976 (GRCm39)	missense	probably damaging	1.00
R4990:Plg	UTSW	17	12,630,397 (GRCm39)	missense	probably benign
R5319:Plg	UTSW	17	12,622,114 (GRCm39)	missense	possibly damaging	0.49
R5635:Plg	UTSW	17	12,614,641 (GRCm39)	missense	probably damaging	1.00
R5981:Plg	UTSW	17	12,597,605 (GRCm39)	critical splice donor site	probably null
R6166:Plg	UTSW	17	12,617,001 (GRCm39)	missense	probably damaging	0.99
R6688:Plg	UTSW	17	12,610,732 (GRCm39)	missense	probably damaging	1.00
R6726:Plg	UTSW	17	12,597,595 (GRCm39)	missense	probably damaging	1.00
R6995:Plg	UTSW	17	12,637,938 (GRCm39)	missense	probably benign	0.00
R7028:Plg	UTSW	17	12,610,723 (GRCm39)	missense	probably damaging	1.00
R7168:Plg	UTSW	17	12,607,446 (GRCm39)	missense	probably damaging	1.00
R7356:Plg	UTSW	17	12,629,798 (GRCm39)	missense	probably damaging	1.00
R8902:Plg	UTSW	17	12,629,790 (GRCm39)	missense	probably benign	0.32
R9035:Plg	UTSW	17	12,609,107 (GRCm39)	nonsense	probably null
R9474:Plg	UTSW	17	12,622,024 (GRCm39)	missense	probably damaging	1.00
R9610:Plg	UTSW	17	12,609,213 (GRCm39)	missense	probably benign	0.12
R9611:Plg	UTSW	17	12,609,213 (GRCm39)	missense	probably benign	0.12
Z1176:Plg	UTSW	17	12,633,072 (GRCm39)	missense	probably benign	0.02
Z1177:Plg	UTSW	17	12,622,120 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCATGAAATATGCACATGC -3'
(R):5'- AGCCCTGTAAACCATCTTTACCTTG -3'

Sequencing Primer
(F):5'- TGTGCTTATACACACACACACAC -3'
(R):5'- TACATTGAGGTCAGAGGACACCTTTG -3'

Posted On

2016-09-01