Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Plat'

182961

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plat

Ensembl Gene

ENSMUSG00000031538

Gene Name

plasminogen activator, tissue

Synonyms

t-PA, D8Ertd2e, tPA

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

22757727-22782844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22767147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 15 (A15T)

Ref Sequence

ENSEMBL: ENSMUSP00000033941 (fasta)

Gene Model

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

AlphaFold

P11214

Predicted Effect

probably benign
Transcript: ENSMUST00000033941
AA Change: A15T

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033941
Gene: ENSMUSG00000031538
AA Change: A15T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210960

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	T	4: 35,194,179	D205E	probably benign	Het
4930435E12Rik	A	T	16: 38,828,224	D174E	probably benign	Het
4932438A13Rik	T	C	3: 36,957,016	S1788P	possibly damaging	Het
Arpc3	T	C	5: 122,403,407	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,886,066		probably null	Het
B3gnt8	A	G	7: 25,628,778	Y211C	probably damaging	Het
Birc6	T	C	17: 74,579,885	I736T	probably benign	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
C3ar1	A	T	6: 122,850,940	M106K	probably damaging	Het
Cab39l	T	A	14: 59,496,895	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043	I166F	probably damaging	Het
Cd180	A	G	13: 102,705,214	E256G	probably damaging	Het
Clca4a	T	C	3: 144,958,126	T519A	probably damaging	Het
Clstn3	A	T	6: 124,458,663	L233Q	probably damaging	Het
Crlf3	G	A	11: 80,058,019		probably benign	Het
Depdc5	T	C	5: 32,945,151		probably benign	Het
Drc7	T	A	8: 95,059,193	C226S	probably damaging	Het
Epha5	T	A	5: 84,084,734	D807V	probably damaging	Het
Fat2	A	G	11: 55,296,195	L1275P	probably benign	Het
Fv1	T	C	4: 147,869,327	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,307,089	M140I	unknown	Het
Klra5	A	T	6: 129,906,713	Y60*	probably null	Het
Lmtk2	C	T	5: 144,176,065	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,169,933	L1230H	probably damaging	Het
Ncapd2	A	T	6: 125,173,115	S917T	probably benign	Het
Nfx1	T	A	4: 41,004,353	I708N	probably damaging	Het
Notch2	A	T	3: 98,143,106	D1899V	probably damaging	Het
Npepl1	T	A	2: 174,116,200		probably benign	Het
Nps	T	A	7: 135,268,752		probably benign	Het
Nrg1	T	C	8: 31,918,134	S24G	probably damaging	Het
Olfr330	A	T	11: 58,529,577	Y136*	probably null	Het
Olfr352	A	G	2: 36,869,646	N27D	probably benign	Het
Olfr698	G	A	7: 106,752,551	T279M	possibly damaging	Het
Olfr730	C	A	14: 50,186,648	V190L	probably benign	Het
Pigx	G	T	16: 32,084,610	T211K	probably benign	Het
Pink1	A	G	4: 138,320,742	I223T	probably damaging	Het
Ptges2	G	A	2: 32,401,530	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,194,645	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,660,096	K316E	probably benign	Het
Scn10a	A	G	9: 119,609,676	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,838,532	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,666,929	D170G	probably benign	Het
Spock1	A	T	13: 57,436,181		probably benign	Het
Strbp	A	G	2: 37,625,285	L243P	probably damaging	Het
Tgm5	T	A	2: 121,052,439	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,484,781	V239I	probably benign	Het
Trav8-1	A	T	14: 53,470,205	T101S	probably benign	Het
Triml1	T	C	8: 43,141,313	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,615,300	E785G	probably benign	Het
Vps13c	A	G	9: 67,955,068		probably null	Het
Wwp2	C	T	8: 107,549,521	R64C	probably damaging	Het
Zfp608	T	C	18: 54,891,818	H1460R	probably damaging	Het

Other mutations in Plat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Plat	APN	8	22776828	missense	probably benign	0.00
IGL01918:Plat	APN	8	22780437	missense	possibly damaging	0.82
IGL02978:Plat	APN	8	22776819	missense	probably damaging	1.00
R0829:Plat	UTSW	8	22772257	missense	probably damaging	1.00
R1065:Plat	UTSW	8	22776863	missense	probably damaging	0.99
R2316:Plat	UTSW	8	22776865	missense	probably benign	0.04
R4485:Plat	UTSW	8	22772212	missense	probably benign	0.01
R4873:Plat	UTSW	8	22768450	missense	probably benign	0.03
R4875:Plat	UTSW	8	22768450	missense	probably benign	0.03
R4924:Plat	UTSW	8	22778253	missense	probably damaging	1.00
R5051:Plat	UTSW	8	22773672	missense	probably benign	0.01
R5062:Plat	UTSW	8	22772311	missense	probably benign	0.19
R5402:Plat	UTSW	8	22772722	missense	probably damaging	1.00
R5672:Plat	UTSW	8	22773648	missense	probably benign	0.40
R6306:Plat	UTSW	8	22772266	missense	possibly damaging	0.83
R7035:Plat	UTSW	8	22772311	missense	probably benign	0.32
R7154:Plat	UTSW	8	22778505	missense	possibly damaging	0.76
R7297:Plat	UTSW	8	22775697	missense	probably benign	0.12
R7432:Plat	UTSW	8	22773651	missense	probably damaging	0.99
R7514:Plat	UTSW	8	22775642	missense	probably damaging	1.00
R7679:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R7680:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R7742:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R7834:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R7885:Plat	UTSW	8	22771720	missense	probably benign	0.00
R7918:Plat	UTSW	8	22773639	missense	probably damaging	1.00
R8039:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8040:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8243:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8347:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8355:Plat	UTSW	8	22771742	nonsense	probably null
R8422:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8423:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8424:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8426:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8427:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8485:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8507:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8510:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8714:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8716:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R8717:Plat	UTSW	8	22772232	missense	probably damaging	1.00
R9140:Plat	UTSW	8	22780546	missense	probably damaging	1.00
R9148:Plat	UTSW	8	22778450	missense	probably damaging	0.99
R9289:Plat	UTSW	8	22782084	missense	probably damaging	1.00
R9328:Plat	UTSW	8	22778117	missense	probably damaging	1.00
R9378:Plat	UTSW	8	22775583	missense	probably damaging	1.00
R9557:Plat	UTSW	8	22772653	missense	probably benign	0.01

Posted On

2014-05-07