Mutagenetix > Incidental Mutation

Incidental Mutation 'R8716:Plat'

669883

Institutional Source

Beutler Lab

Gene Symbol

Plat

Ensembl Gene

ENSMUSG00000031538

Gene Name

plasminogen activator, tissue

Synonyms

D8Ertd2e, tPA, t-PA

MMRRC Submission

068569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23247743-23272860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23262248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 91 (G91W)

Ref Sequence

ENSEMBL: ENSMUSP00000033941 (fasta)

Gene Model

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

AlphaFold

P11214

Predicted Effect

probably damaging
Transcript: ENSMUST00000033941
AA Change: G91W

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

SMART Domains

Protein: ENSMUSP00000033941
Gene: ENSMUSG00000031538
AA Change: G91W

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

Meta Mutation Damage Score

0.8810

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,774 (GRCm39)	Y1879C	probably benign	Het
Abce1	A	T	8: 80,427,784 (GRCm39)	I168N	possibly damaging	Het
Acan	G	A	7: 78,762,438 (GRCm39)	R2004H	probably damaging	Het
Acsm4	T	A	7: 119,307,883 (GRCm39)	L340Q	probably damaging	Het
Actmap	C	A	7: 26,896,631 (GRCm39)	P65T	probably damaging	Het
Adamts2	T	A	11: 50,664,091 (GRCm39)	N342K	probably damaging	Het
Adgrd1	A	T	5: 129,265,435 (GRCm39)	D725V	possibly damaging	Het
Ahnak	T	A	19: 8,986,438 (GRCm39)	L2574Q	probably damaging	Het
Ank2	A	T	3: 126,736,488 (GRCm39)	L3132*	probably null	Het
Ap3b2	T	G	7: 81,126,901 (GRCm39)	E283A	probably benign	Het
Asb17	A	T	3: 153,559,151 (GRCm39)	L287F	probably damaging	Het
Atr	T	G	9: 95,789,468 (GRCm39)	N1541K	probably benign	Het
Bcas3	G	A	11: 85,471,868 (GRCm39)	V711I	probably damaging	Het
Ccdc82	T	G	9: 13,252,922 (GRCm39)	Y262*	probably null	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdc23	GAGACTACCGAAGA	GAGA	18: 34,784,735 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,800,494 (GRCm39)	L1571F	probably benign	Het
Clca3b	C	T	3: 144,550,355 (GRCm39)	V197I	probably benign	Het
Cul9	T	C	17: 46,838,840 (GRCm39)	S932G	probably benign	Het
Cyp3a59	T	A	5: 146,033,411 (GRCm39)	D182E	probably damaging	Het
Ddx19a	T	C	8: 111,710,243 (GRCm39)	E119G	probably damaging	Het
Dnah1	A	G	14: 30,989,941 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,577,673 (GRCm39)	L1761*	probably null	Het
Ehd2	A	G	7: 15,698,106 (GRCm39)	S44P	probably benign	Het
Exoc2	T	A	13: 31,095,227 (GRCm39)	H223L	probably damaging	Het
Fam217a	G	A	13: 35,108,248 (GRCm39)		probably benign	Het
Farp1	A	G	14: 121,479,855 (GRCm39)	N382S	probably benign	Het
Gbf1	T	A	19: 46,272,460 (GRCm39)	L1633Q	probably damaging	Het
Gpn1	C	T	5: 31,656,642 (GRCm39)	T115I	probably benign	Het
Gstcd	T	C	3: 132,688,950 (GRCm39)	D600G	probably damaging	Het
Ighv16-1	A	C	12: 114,032,616 (GRCm39)	M62R	probably benign	Het
Igsf3	T	G	3: 101,334,739 (GRCm39)	V272G	probably damaging	Het
Itgb2	T	C	10: 77,393,787 (GRCm39)	V409A	probably damaging	Het
Kcnh8	C	T	17: 53,284,780 (GRCm39)	P917S	probably benign	Het
Kif23	T	C	9: 61,844,477 (GRCm39)	T114A	probably damaging	Het
Krt35	A	G	11: 99,987,011 (GRCm39)	M1T	probably null	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lonp2	T	C	8: 87,442,933 (GRCm39)	I798T	probably benign	Het
Lrp2	T	A	2: 69,274,138 (GRCm39)	T3971S	probably benign	Het
LTO1	G	T	7: 144,468,930 (GRCm39)		probably benign	Het
Mcc	C	A	18: 44,582,403 (GRCm39)	V758F	possibly damaging	Het
Naip2	C	T	13: 100,280,914 (GRCm39)	V1433I	probably benign	Het
Ndfip1	T	C	18: 38,585,384 (GRCm39)	F133L	probably damaging	Het
Nlrc4	T	A	17: 74,752,985 (GRCm39)	E466V	probably damaging	Het
Nwd1	A	G	8: 73,388,908 (GRCm39)	D112G	probably damaging	Het
Opn4	G	T	14: 34,315,819 (GRCm39)	R405S	probably benign	Het
Or10q12	T	C	19: 13,746,185 (GRCm39)	S160P	probably damaging	Het
Or2i1	C	T	17: 37,508,299 (GRCm39)	V112M	possibly damaging	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pde11a	T	A	2: 75,848,238 (GRCm39)	D863V	probably damaging	Het
Plekhf1	A	T	7: 37,921,322 (GRCm39)	L82Q	probably damaging	Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Ppp1r12a	G	A	10: 108,096,749 (GRCm39)	R713H	probably damaging	Het
Psg17	C	A	7: 18,555,310 (GRCm39)	G11W	probably benign	Het
Ptprh	A	T	7: 4,567,273 (GRCm39)	V533D	probably damaging	Het
Ptprn2	A	G	12: 117,219,168 (GRCm39)	D933G	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rfx6	A	C	10: 51,557,968 (GRCm39)	H147P	probably damaging	Het
Rprd2	T	C	3: 95,684,105 (GRCm39)	Y310C	probably damaging	Het
Samd11	A	G	4: 156,333,727 (GRCm39)	F201S	probably benign	Het
Sox7	A	G	14: 64,186,037 (GRCm39)	T358A	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tie1	G	A	4: 118,339,935 (GRCm39)	T364M	possibly damaging	Het
Ttn	C	A	2: 76,597,266 (GRCm39)	L19882F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubr4	T	C	4: 139,196,164 (GRCm39)	W1267R	unknown	Het
Usp42	G	A	5: 143,703,696 (GRCm39)	P456S	probably damaging	Het
Vmn1r235	T	C	17: 21,482,554 (GRCm39)	V293A	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,343 (GRCm39)	H47Q	probably damaging	Het
Vps13d	T	A	4: 144,802,348 (GRCm39)	T3503S		Het
Vwa5b2	T	A	16: 20,415,026 (GRCm39)	N349K	probably benign	Het
Zeb1	A	T	18: 5,767,958 (GRCm39)	Y823F	probably damaging	Het
Zfp273	T	A	13: 67,974,053 (GRCm39)	C394S	probably damaging	Het
Zfp286	G	T	11: 62,671,817 (GRCm39)	A147D	unknown	Het
Zfp831	A	G	2: 174,547,049 (GRCm39)	T1411A	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
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
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'- TTCCATGCTTCGCGGTTGAC -3'
(R):5'- CTGGGCCCAATAGTGTCAAG -3'

Sequencing Primer
(F):5'- CTTCGCGGTTGACAGGGG -3'
(R):5'- GTGTCAAGTCTCTAAATGACCTCAGC -3'

Posted On

2021-04-30