Mutagenetix > Incidental Mutation

Incidental Mutation 'R9378:Plat'

709784

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 #

R9378 (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 23265599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 214 (Y214C)

Ref Sequence

ENSEMBL: ENSMUSP00000033941 (fasta)

Gene Model

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

AlphaFold

P11214

Predicted Effect

probably damaging
Transcript: ENSMUST00000033941
AA Change: Y214C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033941
Gene: ENSMUSG00000031538
AA Change: Y214C

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,735 (GRCm39)	K1047E	possibly damaging	Het
Aadacl2fm1	A	G	3: 59,839,110 (GRCm39)	T11A	possibly damaging	Het
Abca14	A	T	7: 119,807,191 (GRCm39)	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,329,094 (GRCm39)	M978K	probably benign	Het
Adamts3	A	T	5: 89,848,269 (GRCm39)	C684*	probably null	Het
Adnp2	T	C	18: 80,172,637 (GRCm39)	T591A	probably benign	Het
Aff4	A	T	11: 53,263,306 (GRCm39)	T109S	probably damaging	Het
Agmo	A	G	12: 37,293,720 (GRCm39)	I48V	probably benign	Het
Appl1	G	A	14: 26,649,784 (GRCm39)	R581*	probably null	Het
Armc9	A	T	1: 86,189,766 (GRCm39)	M714L	probably benign	Het
Atp6v0d2	T	A	4: 19,922,377 (GRCm39)	T41S	probably benign	Het
Bin1	A	T	18: 32,552,921 (GRCm39)	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,410,684 (GRCm39)	D159G	probably benign	Het
Bsn	G	A	9: 107,984,854 (GRCm39)	P295S	possibly damaging	Het
Cbx6	A	G	15: 79,712,606 (GRCm39)	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,192,631 (GRCm39)	K108R	probably benign	Het
Ces1d	T	A	8: 93,912,724 (GRCm39)	N238I	probably damaging	Het
Col7a1	C	T	9: 108,787,708 (GRCm39)	Q663*	probably null	Het
Cpsf3	T	C	12: 21,358,039 (GRCm39)	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,539,879 (GRCm39)	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,645,802 (GRCm39)	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,150,837 (GRCm39)	W301R	probably damaging	Het
Dnah6	T	A	6: 73,189,513 (GRCm39)	N45I	probably benign	Het
Dnah7a	A	T	1: 53,621,776 (GRCm39)	H1116Q	probably benign	Het
Dntt	A	G	19: 41,027,356 (GRCm39)	N141S	probably benign	Het
Fbxl13	T	C	5: 21,790,201 (GRCm39)	N281D	probably damaging	Het
Frem2	A	T	3: 53,559,410 (GRCm39)	L1699H	probably damaging	Het
Gabrr3	T	C	16: 59,282,037 (GRCm39)	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,227,353 (GRCm39)	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,369,291 (GRCm39)	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,881,680 (GRCm39)	E187G	probably damaging	Het
Ighm	T	A	12: 113,386,210 (GRCm39)	T47S		Het
Itgb7	A	C	15: 102,135,831 (GRCm39)		probably null	Het
Kif16b	A	T	2: 142,461,738 (GRCm39)	C1293*	probably null	Het
Klf11	C	T	12: 24,705,043 (GRCm39)	R166C	probably benign	Het
Lca5l	T	A	16: 95,977,212 (GRCm39)	Q198L	probably damaging	Het
Lnx2	A	T	5: 146,961,180 (GRCm39)	M584K	probably benign	Het
Lpp	A	T	16: 24,540,737 (GRCm39)	M1L	probably benign	Het
Lrig3	A	G	10: 125,832,953 (GRCm39)	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Megf8	A	T	7: 25,039,840 (GRCm39)		probably null	Het
Myh1	A	C	11: 67,093,259 (GRCm39)	T117P	probably damaging	Het
Neb	C	A	2: 52,134,113 (GRCm39)	R3290L	possibly damaging	Het
Neb	A	C	2: 52,137,304 (GRCm39)	V220G		Het
Nktr	A	T	9: 121,577,264 (GRCm39)	K444I	probably damaging	Het
Nol11	A	T	11: 107,064,505 (GRCm39)	M483K	probably benign	Het
Npy1r	C	A	8: 67,156,861 (GRCm39)	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940 (GRCm39)	T37A	probably benign	Het
Or10ad1b	A	G	15: 98,124,920 (GRCm39)	L204P	possibly damaging	Het
Or2y3	G	A	17: 38,393,056 (GRCm39)	A271V	possibly damaging	Het
Or4c119	T	C	2: 88,987,399 (GRCm39)	N40S	probably damaging	Het
Or51v8	A	T	7: 103,319,389 (GRCm39)	M283K	probably damaging	Het
Or5w14	C	A	2: 87,541,423 (GRCm39)	V276F	possibly damaging	Het
Or8a1b	A	G	9: 37,623,473 (GRCm39)	I34T	probably damaging	Het
Or8b37	G	A	9: 37,958,775 (GRCm39)	V86M	possibly damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdha3	A	G	18: 37,080,284 (GRCm39)	D342G	probably damaging	Het
Pclo	G	A	5: 14,815,877 (GRCm39)	V1266I		Het
Pcnx4	T	C	12: 72,602,664 (GRCm39)	Y309H	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,127,772 (GRCm39)	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,615,425 (GRCm39)	A225V	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plppr1	T	A	4: 49,325,627 (GRCm39)	C274*	probably null	Het
Poglut1	A	G	16: 38,347,133 (GRCm39)	F345L	possibly damaging	Het
Ppara	A	T	15: 85,661,837 (GRCm39)	E26V	possibly damaging	Het
Ppcdc	A	T	9: 57,327,571 (GRCm39)	W79R	probably damaging	Het
Prdm1	C	T	10: 44,316,150 (GRCm39)	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,136,011 (GRCm39)		probably benign	Het
Slc31a1	T	A	4: 62,306,843 (GRCm39)	M133K	probably damaging	Het
Smg1	G	A	7: 117,777,998 (GRCm39)	Q1309*	probably null	Het
Sos1	T	C	17: 80,761,239 (GRCm39)	I152M	probably damaging	Het
Stk4	A	T	2: 163,952,136 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,200,954 (GRCm39)	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,099,666 (GRCm39)	F236S	probably damaging	Het
Tgs1	T	A	4: 3,595,475 (GRCm39)	M548K	probably benign	Het
Twf1	G	A	15: 94,483,336 (GRCm39)	T124I	probably damaging	Het
Tyro3	G	A	2: 119,642,648 (GRCm39)	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282 (GRCm39)	I1370K	unknown	Het
Usp40	A	G	1: 87,885,032 (GRCm39)	W939R	probably damaging	Het
Vamp8	A	T	6: 72,362,554 (GRCm39)	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,575,732 (GRCm39)	H201R	possibly damaging	Het
Whrn	T	C	4: 63,350,079 (GRCm39)	H546R	probably benign	Het
Yeats2	T	C	16: 20,033,228 (GRCm39)	V1036A	probably benign	Het
Zfp352	T	G	4: 90,112,575 (GRCm39)	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 52,776,521 (GRCm39)		probably benign	Het
Zfp462	T	A	4: 55,011,510 (GRCm39)	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 10,800,192 (GRCm39)	H232Q	probably benign	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
R9328:Plat	UTSW	8	23,268,133 (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'- TGGTAGCACAACCCCATTGC -3'
(R):5'- AGTATCCCAGGCCTCTTTGC -3'

Sequencing Primer
(F):5'- CAGCACCTTGGTTCTGACAGAATAG -3'
(R):5'- ATCTGACTCCCTTAGATGCGGAG -3'

Posted On

2022-04-18