Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Plg'

406014

Institutional Source

Beutler Lab

Gene Symbol

Plg

Ensembl Gene

ENSMUSG00000059481

Gene Name

plasminogen

Synonyms

MMRRC Submission

042902-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12378609-12419384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12403227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 478 (E478G)

Ref Sequence

ENSEMBL: ENSMUSP00000014578 (fasta)

Gene Model

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

AlphaFold

P20918

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014578
AA Change: E478G

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: E478G

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,504,696	S218P	probably benign	Het
A430078G23Rik	T	C	8: 3,385,010		probably null	Het
Ahctf1	A	C	1: 179,769,050	S121A	probably damaging	Het
Anpep	C	T	7: 79,841,731	R174H	probably benign	Het
Becn1	A	G	11: 101,288,803		probably benign	Het
Cabin1	T	C	10: 75,725,715	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,347,252		probably null	Het
Ccdc14	T	G	16: 34,723,172	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,335,569	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,925,179	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,484,869	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,827,936	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,454,055	Y127H	probably damaging	Het
Dnajc11	A	G	4: 151,968,526	T98A	probably damaging	Het
Dst	T	C	1: 34,225,977	S4757P	possibly damaging	Het
Dvl2	C	T	11: 70,008,131	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,621,670		noncoding transcript	Het
Efl1	G	T	7: 82,674,506	D219Y	probably damaging	Het
Epha10	T	A	4: 124,914,000		probably benign	Het
Fbxw22	T	A	9: 109,383,947	T311S	possibly damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Fshb	T	A	2: 107,058,879	I27F	probably damaging	Het
Gm340	G	A	19: 41,586,352	G1182D	probably damaging	Het
Gm8521	A	T	Y: 3,859,335		noncoding transcript	Het
Gpr45	T	C	1: 43,032,838	S214P	probably damaging	Het
Hgf	G	A	5: 16,566,862		probably null	Het
Hs6st1	T	C	1: 36,104,178	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,271,646	V371A	probably damaging	Het
Kif18a	T	A	2: 109,318,025	N621K	probably benign	Het
Lama5	A	G	2: 180,181,118	F2785S	probably damaging	Het
Lrriq3	T	C	3: 155,129,471	I281T	possibly damaging	Het
Macf1	C	T	4: 123,473,436	A2511T	probably damaging	Het
Mark4	T	C	7: 19,436,961	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,662,026	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,819,379	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197	S272P	probably benign	Het
Nsrp1	T	C	11: 77,049,467	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,619	S64T	probably benign	Het
Olfr1204	T	A	2: 88,852,778	I276K	probably damaging	Het
Olfr223	A	T	11: 59,589,651	V146E	probably damaging	Het
Olfr843	C	T	9: 19,249,033	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,421,788		probably benign	Het
Phox2a	C	T	7: 101,820,850	T96M	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,483,984	T517S	probably benign	Het
Ptk7	C	T	17: 46,572,677	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,732,950	V2M	probably benign	Het
Rgl2	T	C	17: 33,933,555	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,030,152	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,273,377	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,145,350	V640A	probably benign	Het
Simc1	T	A	13: 54,524,982	V381E	probably benign	Het
Slc15a3	A	T	19: 10,855,932	T438S	probably damaging	Het
Slc5a4b	C	T	10: 76,062,399	V494M	probably benign	Het
Sos2	C	A	12: 69,627,284	R335L	probably benign	Het
Trp53i13	A	T	11: 77,508,740	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,921	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,239,589	I174V	probably damaging	Het
Tsnax	T	A	8: 125,015,719	D62E	probably damaging	Het
Vezt	T	A	10: 93,970,331	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,454,210	I184F	probably damaging	Het
Yeats2	T	C	16: 20,186,425	V385A	probably benign	Het

Other mutations in Plg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Plg	APN	17	12411493	missense	probably damaging	1.00
IGL01128:Plg	APN	17	12396699	splice site	probably benign
IGL01522:Plg	APN	17	12404069	missense	probably damaging	1.00
IGL01981:Plg	APN	17	12403047	splice site	probably benign
IGL03338:Plg	APN	17	12419072	missense	probably damaging	1.00
elder	UTSW	17	12390220	nonsense	probably null
oldster	UTSW	17	12395754	missense	probably damaging	1.00
R0391:Plg	UTSW	17	12419081	missense	probably damaging	1.00
R0531:Plg	UTSW	17	12411447	splice site	probably benign
R0646:Plg	UTSW	17	12418736	missense	probably damaging	1.00
R0759:Plg	UTSW	17	12410951	missense	probably damaging	1.00
R1013:Plg	UTSW	17	12378721	splice site	probably benign
R2116:Plg	UTSW	17	12384477	missense	probably damaging	0.99
R2442:Plg	UTSW	17	12410960	missense	probably benign	0.15
R2512:Plg	UTSW	17	12403229	missense	probably benign
R2879:Plg	UTSW	17	12404100	missense	possibly damaging	0.92
R3107:Plg	UTSW	17	12384429	missense	probably benign	0.00
R3405:Plg	UTSW	17	12403209	missense	possibly damaging	0.65
R4409:Plg	UTSW	17	12390263	missense	probably damaging	1.00
R4861:Plg	UTSW	17	12395735	missense	probably benign	0.00
R4861:Plg	UTSW	17	12395735	missense	probably benign	0.00
R4977:Plg	UTSW	17	12403089	missense	probably damaging	1.00
R4990:Plg	UTSW	17	12411510	missense	probably benign
R5443:Plg	UTSW	17	12382183	missense	probably benign	0.03
R5635:Plg	UTSW	17	12395754	missense	probably damaging	1.00
R5981:Plg	UTSW	17	12378718	critical splice donor site	probably null
R6166:Plg	UTSW	17	12398114	missense	probably damaging	0.99
R6688:Plg	UTSW	17	12391845	missense	probably damaging	1.00
R6726:Plg	UTSW	17	12378708	missense	probably damaging	1.00
R6995:Plg	UTSW	17	12419051	missense	probably benign	0.00
R7028:Plg	UTSW	17	12391836	missense	probably damaging	1.00
R7168:Plg	UTSW	17	12388559	missense	probably damaging	1.00
R7356:Plg	UTSW	17	12410911	missense	probably damaging	1.00
R8902:Plg	UTSW	17	12410903	missense	probably benign	0.32
R9035:Plg	UTSW	17	12390220	nonsense	probably null
R9474:Plg	UTSW	17	12403137	missense	probably damaging	1.00
R9610:Plg	UTSW	17	12390326	missense	probably benign	0.12
R9611:Plg	UTSW	17	12390326	missense	probably benign	0.12
Z1176:Plg	UTSW	17	12414185	missense	probably benign	0.02
Z1177:Plg	UTSW	17	12403233	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTAAATTCTGCCACCACTGCTG -3'
(R):5'- AACAACCATCTCCCTGGCTG -3'

Sequencing Primer
(F):5'- GACCACACTGCTTTGGGATTTACAG -3'
(R):5'- TGGCTGCCCTAAGATAGAGCTG -3'

Posted On

2016-07-22