Mutagenetix > Incidental Mutations

Incidental Mutation 'R0391:Plg'

31729

Institutional Source

Beutler Lab

Gene Symbol

Plg

Ensembl Gene

ENSMUSG00000059481

Gene Name

plasminogen

Synonyms

MMRRC Submission

038597-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12378609-12419384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12419081 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 798 (V798A)

Ref Sequence

ENSEMBL: ENSMUSP00000014578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014578] [ENSMUST00000024595]

Predicted Effect

probably damaging
Transcript: ENSMUST00000014578
AA Change: V798A

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

SMART Domains

Protein: ENSMUSP00000014578
Gene: ENSMUSG00000059481
AA Change: V798A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024595

SMART Domains

Protein: ENSMUSP00000024595
Gene: ENSMUSG00000023828

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Sugar_tr	105	526	1.2e-28	PFAM
Pfam:MFS_1	144	395	3.3e-22	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177		probably benign	Het
Abcc2	G	A	19: 43,821,605		probably benign	Het
Abcc8	C	G	7: 46,122,173	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,581,200	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,756,921	H378R	possibly damaging	Het
C4b	A	G	17: 34,735,614		probably benign	Het
Catsperd	A	T	17: 56,662,821	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253		probably null	Het
Cfap100	C	T	6: 90,405,339		probably benign	Het
Chd1	G	T	17: 15,749,894	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259		probably benign	Het
Col17a1	C	T	19: 47,663,824	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916		probably benign	Het
Eci1	G	A	17: 24,433,260		probably null	Het
Efhc1	A	G	1: 20,960,188	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499		probably benign	Het
Ghrl	T	C	6: 113,719,338	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535		probably benign	Het
Ift172	A	G	5: 31,286,667	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979		probably benign	Het
Il17rb	T	C	14: 30,004,347	N95D	probably benign	Het
Il17rb	G	T	14: 30,006,155		probably null	Het
Iqub	G	A	6: 24,446,155	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167	V473A	probably benign	Het
Itpr2	T	G	6: 146,229,773	N1978H	probably damaging	Het
Klk1b26	T	A	7: 44,012,727	F3Y	probably damaging	Het
Lars	A	G	18: 42,251,363	V50A	probably benign	Het
Lax1	G	T	1: 133,680,066	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314		probably benign	Het
Lrp2	G	A	2: 69,460,337		probably benign	Het
Lrp2	T	A	2: 69,456,858	D3745V	probably damaging	Het
Lvrn	A	T	18: 46,850,466	H92L	probably benign	Het
March1	A	G	8: 66,418,973	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416	V970A	possibly damaging	Het
Mccc1	A	G	3: 35,963,570		probably benign	Het
Mpp4	A	T	1: 59,143,829		probably benign	Het
Mrnip	G	A	11: 50,199,920	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507		probably benign	Het
Nbea	A	T	3: 56,037,277	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476		probably benign	Het
Nmur1	A	T	1: 86,387,678	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573	H120Q	probably damaging	Het
Polr2c	A	G	8: 94,857,775	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc28a3	A	G	13: 58,569,415		probably benign	Het
Smad2	A	T	18: 76,289,037		probably null	Het
Smad4	G	A	18: 73,658,649	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144	K680R	probably benign	Het
Stil	A	G	4: 115,041,172		probably null	Het
Sympk	T	A	7: 19,046,849	L759H	probably benign	Het
Tet1	A	T	10: 62,814,546		probably null	Het
Tfpi2	A	T	6: 3,965,460	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930		probably null	Het
Tshz1	A	G	18: 84,016,049	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808	D177G	probably damaging	Het
Ttc13	T	A	8: 124,674,401	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,594,832	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333		probably benign	Het
V1rd19	A	C	7: 24,003,585	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,432,670	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451	N123K	possibly damaging	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
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
R5319:Plg	UTSW	17	12403227	missense	possibly damaging	0.49
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
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'- GGATTTGACAACTCATGGCCTGCG -3'
(R):5'- GCTGGCCCTTGGGAAAACAAAC -3'

Sequencing Primer
(F):5'- TGCGGAGGAATCCCACAG -3'
(R):5'- TTTCAACAAAGGTCACAGCAGTG -3'

Posted On

2013-04-24