Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Plg'

382802

Institutional Source

Beutler Lab

Gene Symbol

Plg

Ensembl Gene

ENSMUSG00000059481

Gene Name

plasminogen

Synonyms

MMRRC Submission

042572-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R4977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12597496-12638271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12621976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 432 (D432G)

Ref Sequence

ENSEMBL: ENSMUSP00000014578 (fasta)

Gene Model

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

AlphaFold

P20918

Predicted Effect

probably damaging
Transcript: ENSMUST00000014578
AA Change: D432G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: D432G

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,026,899 (GRCm39)	D910G	probably benign	Het
Amy1	C	T	3: 113,363,026 (GRCm39)		probably null	Het
C1s2	A	G	6: 124,612,598 (GRCm39)	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,478 (GRCm39)	I276T	probably damaging	Het
Cdyl2	A	G	8: 117,302,008 (GRCm39)	C458R	probably damaging	Het
Cep112	T	C	11: 108,325,062 (GRCm39)	S35P	probably damaging	Het
Chd9	T	C	8: 91,760,336 (GRCm39)	L2027P	possibly damaging	Het
Clcn4	T	A	7: 7,294,436 (GRCm39)	I411F	probably benign	Het
Cyp3a57	T	C	5: 145,286,236 (GRCm39)		probably null	Het
Dis3l	A	C	9: 64,214,483 (GRCm39)	S919A	probably benign	Het
Dnah8	A	G	17: 30,882,275 (GRCm39)	T616A	probably benign	Het
Emx2	A	G	19: 59,447,678 (GRCm39)	T11A	probably damaging	Het
Fbxl18	A	G	5: 142,871,840 (GRCm39)	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,601,187 (GRCm39)	T311I	probably damaging	Het
Fhip1b	A	T	7: 105,038,542 (GRCm39)	D232E	probably damaging	Het
Fstl5	C	T	3: 76,317,801 (GRCm39)	Q156*	probably null	Het
Ggn	G	T	7: 28,871,621 (GRCm39)	G334C	probably damaging	Het
Grik2	T	C	10: 49,008,841 (GRCm39)	N749D	probably damaging	Het
Helb	A	G	10: 119,946,786 (GRCm39)	S176P	probably benign	Het
Hyal1	A	G	9: 107,456,153 (GRCm39)	D73G	probably benign	Het
Ifi205	C	A	1: 173,842,574 (GRCm39)	R374I	probably benign	Het
Ift172	A	T	5: 31,429,460 (GRCm39)	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,909,845 (GRCm39)	S26T	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Jam3	A	G	9: 27,009,669 (GRCm39)	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,637,659 (GRCm39)	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,406,946 (GRCm39)	V250A	probably benign	Het
Lama1	A	G	17: 68,044,677 (GRCm39)	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,364,846 (GRCm39)	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,917,382 (GRCm39)	R204S	probably benign	Het
Lrrn1	A	G	6: 107,545,668 (GRCm39)	I489V	probably benign	Het
Mdh2	T	A	5: 135,812,263 (GRCm39)	D57E	probably damaging	Het
Mfsd2a	A	G	4: 122,844,302 (GRCm39)	S282P	probably benign	Het
Midn	T	A	10: 79,986,018 (GRCm39)	I36N	probably damaging	Het
Mpped1	A	T	15: 83,680,907 (GRCm39)		probably benign	Het
Myh10	A	G	11: 68,689,197 (GRCm39)	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,478,449 (GRCm39)	S155P	possibly damaging	Het
Or2g7	A	T	17: 38,378,638 (GRCm39)	H192L	possibly damaging	Het
Or2t46	A	G	11: 58,472,455 (GRCm39)	T262A	possibly damaging	Het
Or52ab7	A	T	7: 102,978,040 (GRCm39)	M116L	probably benign	Het
Pex7	T	C	10: 19,745,078 (GRCm39)	T258A	probably benign	Het
Plxnd1	A	T	6: 115,971,337 (GRCm39)	S144T	probably damaging	Het
Prkch	T	C	12: 73,749,667 (GRCm39)	F420S	possibly damaging	Het
Psg26	A	G	7: 18,209,235 (GRCm39)	V391A	probably benign	Het
Psg29	G	A	7: 16,942,556 (GRCm39)	G186R	probably damaging	Het
Rev3l	T	A	10: 39,699,574 (GRCm39)	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,123 (GRCm39)		probably benign	Het
Runx1	T	A	16: 92,441,235 (GRCm39)		probably null	Het
Sapcd1	A	T	17: 35,245,427 (GRCm39)	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,332 (GRCm39)	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,183,314 (GRCm39)	E59K	probably benign	Het
Slc8b1	A	G	5: 120,662,352 (GRCm39)	K299E	possibly damaging	Het
Slco1b2	G	A	6: 141,603,283 (GRCm39)	M221I	probably benign	Het
Smg5	C	T	3: 88,263,032 (GRCm39)	Q812*	probably null	Het
Smr3a	T	G	5: 88,155,962 (GRCm39)		probably null	Het
Syt9	G	A	7: 107,103,479 (GRCm39)	D426N	probably damaging	Het
Tcf25	T	C	8: 124,115,374 (GRCm39)	Y204H	probably benign	Het
Tmeff2	T	A	1: 51,018,715 (GRCm39)	C232*	probably null	Het
Tmem184a	C	A	5: 139,793,757 (GRCm39)	G219V	probably null	Het
Tnc	G	T	4: 63,924,485 (GRCm39)	T1071K	possibly damaging	Het
Tnn	C	A	1: 159,948,188 (GRCm39)	G842W	probably damaging	Het
Tshz3	T	A	7: 36,470,615 (GRCm39)	I868N	probably benign	Het
Ulbp1	C	T	10: 7,397,391 (GRCm39)	R238H	probably benign	Het
Ushbp1	C	T	8: 71,847,693 (GRCm39)		probably null	Het
Usp34	G	C	11: 23,438,982 (GRCm39)	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,887,726 (GRCm39)	E10G	probably damaging	Het
Xdh	A	T	17: 74,205,965 (GRCm39)	F1016L	probably benign	Het
Zfp235	T	G	7: 23,841,609 (GRCm39)	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,186,811 (GRCm39)	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,195,731 (GRCm39)	S163P	probably damaging	Het
Zfp93	A	G	7: 23,974,836 (GRCm39)	I274V	probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
R4990:Plg	UTSW	17	12,630,397 (GRCm39)	missense	probably benign
R5319:Plg	UTSW	17	12,622,114 (GRCm39)	missense	possibly damaging	0.49
R5443:Plg	UTSW	17	12,601,070 (GRCm39)	missense	probably benign	0.03
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'- GGACCATTTGTGACAATGCATTG -3'
(R):5'- TGGGAGCTTCTACATAAGTAGC -3'

Sequencing Primer
(F):5'- GGGAGCTAAATTCTGCCA -3'
(R):5'- GTGTCCAGTCTCCACAGCTG -3'

Posted On

2016-04-27