Mutagenetix > Incidental Mutation

Incidental Mutation 'R9328:Plat'

706654

Institutional Source

Beutler Lab

Gene Symbol

Plat

Ensembl Gene

ENSMUSG00000031538

Gene Name

plasminogen activator, tissue

Synonyms

D8Ertd2e, tPA, t-PA

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23247743-23272860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23268133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 300 (R300G)

Ref Sequence

ENSEMBL: ENSMUSP00000033941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033941]

AlphaFold

P11214

Predicted Effect

probably damaging
Transcript: ENSMUST00000033941
AA Change: R300G

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

SMART Domains

Protein: ENSMUSP00000033941
Gene: ENSMUSG00000031538
AA Change: R300G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
FN1	38	80	5.69e-15	SMART
EGF	82	117	4.92e-5	SMART
KR	122	207	3.77e-33	SMART
KR	211	296	4.39e-34	SMART
Tryp_SPc	308	553	6.59e-84	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a key enzyme of the fibrinolytic pathway. The encoded protein undergoes proteolytic processing by plasmin to generate a heterodimeric serine protease that cleaves the proenzyme plasminogen to produce plasmin, a protease that is required to break down fibrin clots. Additionally, the encoded protein is involved in other biological processes such as synaptic plasticity, cell migration and tissue remodeling. Mice lacking the encoded protein display a reduction in long-term potentiation in hippocampus and conversely, transgenic mice overexpressing the encoded protein have increased and prolonged long-term potentiation. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal behavior, CNS synpatic transmission, and response to injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	A	G	7: 37,894,272 (GRCm39)	T102A	probably benign	Het
1700109H08Rik	A	G	5: 3,632,161 (GRCm39)	K164E	possibly damaging	Het
2610042L04Rik	C	T	14: 4,350,013 (GRCm38)	Q74*	probably null	Het
Aadacl4fm4	T	A	4: 144,401,256 (GRCm39)	H76L	probably benign	Het
Adgrb2	T	A	4: 129,915,363 (GRCm39)	M1381K	probably damaging	Het
Adgrv1	C	A	13: 81,620,523 (GRCm39)	D3975Y	probably damaging	Het
Ano10	C	T	9: 122,090,168 (GRCm39)	E382K	possibly damaging	Het
Ascc3	T	C	10: 50,535,015 (GRCm39)	V636A	probably damaging	Het
AU040320	T	C	4: 126,729,332 (GRCm39)	V498A	possibly damaging	Het
Bahcc1	C	T	11: 120,165,885 (GRCm39)	T1047I	possibly damaging	Het
BC004004	A	T	17: 29,501,682 (GRCm39)	T74S	possibly damaging	Het
Bend3	A	G	10: 43,387,419 (GRCm39)	D604G	possibly damaging	Het
Brinp3	T	A	1: 146,707,455 (GRCm39)	V373E	probably damaging	Het
Bsph2	A	T	7: 13,290,764 (GRCm39)	D38E	probably benign	Het
Castor1	T	C	11: 4,170,423 (GRCm39)	F140L	probably benign	Het
Catsperd	A	G	17: 56,965,074 (GRCm39)	I474V	possibly damaging	Het
Ccdc180	A	G	4: 45,902,447 (GRCm39)	N292S	possibly damaging	Het
Cd1d1	A	T	3: 86,905,459 (GRCm39)	V178E	possibly damaging	Het
Cdca2	T	A	14: 67,931,131 (GRCm39)	R521W	probably damaging	Het
Champ1	A	G	8: 13,929,392 (GRCm39)	K517E	probably damaging	Het
Chrna9	T	C	5: 66,128,569 (GRCm39)	F259S	probably damaging	Het
Chuk	A	T	19: 44,085,422 (GRCm39)	C241*	probably null	Het
Clns1a	A	G	7: 97,363,240 (GRCm39)	Y204C	probably benign	Het
Cplane1	A	G	15: 8,215,692 (GRCm39)	D416G	probably damaging	Het
Cyp2j7	A	T	4: 96,115,869 (GRCm39)	N192K	probably damaging	Het
Ddr2	A	G	1: 169,829,504 (GRCm39)	V250A	probably benign	Het
Dlgap2	A	G	8: 14,777,441 (GRCm39)	S229G	probably damaging	Het
Dmrt1	A	T	19: 25,523,231 (GRCm39)	H194L	probably damaging	Het
Dock7	A	T	4: 98,968,064 (GRCm39)	F138I		Het
Dsg2	T	C	18: 20,715,847 (GRCm39)	V263A	possibly damaging	Het
Dusp16	A	G	6: 134,716,902 (GRCm39)	L135P	probably damaging	Het
Dysf	A	G	6: 84,050,895 (GRCm39)	N414S	probably damaging	Het
Efhc1	A	G	1: 21,030,598 (GRCm39)	Y177C	probably damaging	Het
Fam83e	A	T	7: 45,372,912 (GRCm39)	R174S	probably benign	Het
Fgf4	C	T	7: 144,416,664 (GRCm39)	L199F	probably damaging	Het
Fignl2	A	G	15: 100,951,271 (GRCm39)	L337P	unknown	Het
Gm4353	T	C	7: 115,682,724 (GRCm39)	R286G	probably damaging	Het
Gm5142	T	C	14: 59,416,126 (GRCm39)	S11G	probably benign	Het
Gpr151	A	G	18: 42,712,270 (GRCm39)	V136A	probably damaging	Het
Ift80	T	A	3: 68,847,483 (GRCm39)	I338F	probably damaging	Het
Itgb4	A	G	11: 115,880,625 (GRCm39)	S693G	probably benign	Het
Kif13a	T	A	13: 46,951,838 (GRCm39)	I812F	probably damaging	Het
Krit1	T	C	5: 3,862,577 (GRCm39)		probably null	Het
Mapk6	T	C	9: 75,305,252 (GRCm39)	D55G	possibly damaging	Het
Matn3	A	G	12: 9,002,033 (GRCm39)	I82V	possibly damaging	Het
Mecom	T	A	3: 30,063,994 (GRCm39)	D32V	unknown	Het
Nacad	T	C	11: 6,552,417 (GRCm39)	H258R	possibly damaging	Het
Ndufaf5	T	A	2: 140,030,752 (GRCm39)	S213T	possibly damaging	Het
Nphp1	C	T	2: 127,582,892 (GRCm39)	D674N	possibly damaging	Het
Nsmaf	A	G	4: 6,426,412 (GRCm39)	L250P	probably damaging	Het
Ogdh	T	C	11: 6,297,838 (GRCm39)	S571P	probably benign	Het
Or1e31	T	C	11: 73,690,478 (GRCm39)	Y35C	probably damaging	Het
Or51i2	T	A	7: 103,689,268 (GRCm39)	D88E		Het
Or8g27	T	C	9: 39,129,175 (GRCm39)	I174T	probably damaging	Het
Osbpl11	A	G	16: 33,047,245 (GRCm39)	I403V	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pira13	T	A	7: 3,827,580 (GRCm39)	R192S	unknown	Het
Ppid	T	C	3: 79,505,059 (GRCm39)	I134T	probably damaging	Het
Rad51ap2	A	G	12: 11,507,772 (GRCm39)	I565V	probably benign	Het
Rasa1	T	C	13: 85,403,575 (GRCm39)		probably null	Het
Sema4a	C	T	3: 88,345,613 (GRCm39)	W490*	probably null	Het
Septin3	A	G	15: 82,173,439 (GRCm39)	Y257C	probably damaging	Het
Sh3rf2	C	A	18: 42,274,161 (GRCm39)	F442L	probably benign	Het
Sipa1l1	A	G	12: 82,388,792 (GRCm39)	I339M	possibly damaging	Het
Six2	T	C	17: 85,995,196 (GRCm39)	N62S	possibly damaging	Het
Slc44a5	T	C	3: 153,964,678 (GRCm39)	I526T	probably benign	Het
Smarca5	T	C	8: 81,447,378 (GRCm39)	S402G	probably benign	Het
Son	T	A	16: 91,452,645 (GRCm39)	V464E	possibly damaging	Het
Sorcs3	A	G	19: 48,785,950 (GRCm39)	K1144E	probably damaging	Het
Stxbp6	A	G	12: 44,902,659 (GRCm39)	L204P	probably damaging	Het
Tchh	A	G	3: 93,351,570 (GRCm39)	R337G	unknown	Het
Tgm4	T	C	9: 122,885,697 (GRCm39)	V413A	possibly damaging	Het
Tmem131	G	A	1: 36,858,236 (GRCm39)	Q704*	probably null	Het
Tmpo	T	C	10: 90,998,825 (GRCm39)	K321E	probably damaging	Het
Trim75	G	T	8: 65,435,315 (GRCm39)	N378K	probably benign	Het
Tspan18	T	A	2: 93,036,065 (GRCm39)	I227F	probably benign	Het
Ttn	C	T	2: 76,541,526 (GRCm39)	W33820*	probably null	Het
Urb2	T	A	8: 124,774,034 (GRCm39)	Y1522N	probably damaging	Het
Zbtb40	T	C	4: 136,745,620 (GRCm39)	N138D	probably benign	Het
Zfp715	A	T	7: 42,947,328 (GRCm39)	H877Q	possibly damaging	Het

Other mutations in Plat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Plat	APN	8	23,266,844 (GRCm39)	missense	probably benign	0.00
IGL01918:Plat	APN	8	23,270,453 (GRCm39)	missense	possibly damaging	0.82
IGL01998:Plat	APN	8	23,257,163 (GRCm39)	missense	probably benign	0.31
IGL02978:Plat	APN	8	23,266,835 (GRCm39)	missense	probably damaging	1.00
R0829:Plat	UTSW	8	23,262,273 (GRCm39)	missense	probably damaging	1.00
R1065:Plat	UTSW	8	23,266,879 (GRCm39)	missense	probably damaging	0.99
R2316:Plat	UTSW	8	23,266,881 (GRCm39)	missense	probably benign	0.04
R4485:Plat	UTSW	8	23,262,228 (GRCm39)	missense	probably benign	0.01
R4873:Plat	UTSW	8	23,258,466 (GRCm39)	missense	probably benign	0.03
R4875:Plat	UTSW	8	23,258,466 (GRCm39)	missense	probably benign	0.03
R4924:Plat	UTSW	8	23,268,269 (GRCm39)	missense	probably damaging	1.00
R5051:Plat	UTSW	8	23,263,688 (GRCm39)	missense	probably benign	0.01
R5062:Plat	UTSW	8	23,262,327 (GRCm39)	missense	probably benign	0.19
R5402:Plat	UTSW	8	23,262,738 (GRCm39)	missense	probably damaging	1.00
R5672:Plat	UTSW	8	23,263,664 (GRCm39)	missense	probably benign	0.40
R6306:Plat	UTSW	8	23,262,282 (GRCm39)	missense	possibly damaging	0.83
R7035:Plat	UTSW	8	23,262,327 (GRCm39)	missense	probably benign	0.32
R7154:Plat	UTSW	8	23,268,521 (GRCm39)	missense	possibly damaging	0.76
R7297:Plat	UTSW	8	23,265,713 (GRCm39)	missense	probably benign	0.12
R7432:Plat	UTSW	8	23,263,667 (GRCm39)	missense	probably damaging	0.99
R7514:Plat	UTSW	8	23,265,658 (GRCm39)	missense	probably damaging	1.00
R7679:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R7680:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R7742:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R7834:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R7885:Plat	UTSW	8	23,261,736 (GRCm39)	missense	probably benign	0.00
R7918:Plat	UTSW	8	23,263,655 (GRCm39)	missense	probably damaging	1.00
R8039:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8040:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8243:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8347:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8355:Plat	UTSW	8	23,261,758 (GRCm39)	nonsense	probably null
R8422:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8423:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8424:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8426:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8427:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8485:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8507:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8510:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8714:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8716:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R8717:Plat	UTSW	8	23,262,248 (GRCm39)	missense	probably damaging	1.00
R9140:Plat	UTSW	8	23,270,562 (GRCm39)	missense	probably damaging	1.00
R9148:Plat	UTSW	8	23,268,466 (GRCm39)	missense	probably damaging	0.99
R9289:Plat	UTSW	8	23,272,100 (GRCm39)	missense	probably damaging	1.00
R9378:Plat	UTSW	8	23,265,599 (GRCm39)	missense	probably damaging	1.00
R9557:Plat	UTSW	8	23,262,669 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTCAACAAAGGGAAGCTGC -3'
(R):5'- AGGAAACCCGTACCTCTCTAG -3'

Sequencing Primer
(F):5'- TGTCGCCATCATTGAGACAG -3'
(R):5'- CGTACCTCTCTAGAAAGCAGTGG -3'

Posted On

2022-04-18