Mutagenetix > Incidental Mutation

Incidental Mutation 'R5635:F2rl2'

448677

Institutional Source

Beutler Lab

Gene Symbol

F2rl2

Ensembl Gene

ENSMUSG00000021675

Gene Name

coagulation factor II thrombin receptor like 2

Synonyms

PAR3, PAR-3

MMRRC Submission

043286-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5635 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95833428-95839276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95837290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 112 (I112F)

Ref Sequence

ENSEMBL: ENSMUSP00000022182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022182] [ENSMUST00000068603]

AlphaFold

O08675

PDB Structure

Crystal structure of murine thrombin in complex with the extracellular fragment of murine PAR3 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022182
AA Change: I112F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: I112F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:7tm_1	110	295	1.7e-32	PFAM
Pfam:7tm_1	297	357	1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068603

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676

Domain	Start	End	E-Value	Type
CH	43	152	3.32e-16	SMART
coiled coil region	253	276	N/A	INTRINSIC
low complexity region	469	480	N/A	INTRINSIC
IQ	689	711	1.38e-4	SMART
IQ	719	741	7.36e0	SMART
IQ	749	771	2.43e1	SMART
coiled coil region	799	828	N/A	INTRINSIC
RasGAP	905	1258	2.6e-120	SMART
Pfam:RasGAP_C	1367	1498	3.2e-40	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in prolonged bleeding times, delayed and reduced thrombin responses in platelets, and protection against thrombosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,094,273 (GRCm39)	M53K	possibly damaging	Het
Aldh3b3	C	T	19: 4,018,512 (GRCm39)	T409I	probably benign	Het
Ankrd13a	C	A	5: 114,939,778 (GRCm39)	H468Q	possibly damaging	Het
Ap2a1	A	C	7: 44,573,325 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,259,085 (GRCm39)	S671T	possibly damaging	Het
C1ra	G	A	6: 124,493,683 (GRCm39)	C145Y	probably damaging	Het
Catsperd	G	A	17: 56,939,335 (GRCm39)	V55M	possibly damaging	Het
Ccdc30	T	C	4: 119,216,871 (GRCm39)	N123D	possibly damaging	Het
Cdc20	A	T	4: 118,293,224 (GRCm39)	V232E	possibly damaging	Het
Cfap251	A	T	5: 123,460,635 (GRCm39)	Q225L	probably benign	Het
Cfap58	T	A	19: 47,971,981 (GRCm39)	V637E	possibly damaging	Het
Coq4	T	A	2: 29,678,367 (GRCm39)	V24E	possibly damaging	Het
Crim1	T	A	17: 78,623,070 (GRCm39)	F423I	probably damaging	Het
Crls1	T	C	2: 132,706,062 (GRCm39)	V262A	possibly damaging	Het
Crybb1	T	C	5: 112,405,425 (GRCm39)		probably null	Het
Cutc	T	A	19: 43,744,069 (GRCm39)	N23K	probably benign	Het
Cxcl10	T	A	5: 92,495,698 (GRCm39)	I82F	probably damaging	Het
Cyp3a44	A	T	5: 145,738,124 (GRCm39)	F60L	possibly damaging	Het
Dhx9	A	G	1: 153,359,493 (GRCm39)	M35T	probably benign	Het
Dnah8	A	G	17: 30,925,360 (GRCm39)	E1265G	probably benign	Het
Dzank1	C	G	2: 144,325,327 (GRCm39)	D548H	probably damaging	Het
Eef2kmt	A	G	16: 5,066,893 (GRCm39)	V120A	probably damaging	Het
Elp4	A	G	2: 105,644,609 (GRCm39)		probably null	Het
Etl4	A	T	2: 20,811,846 (GRCm39)	I1310F	probably damaging	Het
Exoc6b	A	T	6: 84,828,909 (GRCm39)	F492I	probably damaging	Het
Farp1	T	A	14: 121,513,716 (GRCm39)	I837N	possibly damaging	Het
Fars2	A	G	13: 36,594,129 (GRCm39)	E378G	probably damaging	Het
Fgg	A	G	3: 82,918,730 (GRCm39)	T248A	probably benign	Het
Flrt3	T	A	2: 140,502,420 (GRCm39)	T403S	probably damaging	Het
Fndc3b	C	T	3: 27,596,080 (GRCm39)	E170K	probably damaging	Het
Gm17728	A	G	17: 9,641,202 (GRCm39)	H104R	probably benign	Het
H2ac21	C	A	3: 96,127,593 (GRCm39)	T121K	possibly damaging	Het
Hivep1	A	G	13: 42,313,603 (GRCm39)	T1948A	probably benign	Het
Hspa4l	T	A	3: 40,700,177 (GRCm39)	I23N	probably damaging	Het
Ighv1-75	A	G	12: 115,797,829 (GRCm39)	V31A	probably benign	Het
Kalrn	T	A	16: 33,834,454 (GRCm39)	N627I	probably damaging	Het
Lrp1b	T	G	2: 42,542,834 (GRCm39)		probably benign	Het
Lrrc36	G	A	8: 106,184,205 (GRCm39)	V480M	probably damaging	Het
Map4k3	A	T	17: 80,920,924 (GRCm39)	N534K	possibly damaging	Het
Mybpc3	C	T	2: 90,965,174 (GRCm39)	T1081I	probably benign	Het
Nfrkb	T	C	9: 31,310,594 (GRCm39)	S351P	probably damaging	Het
Nme4	A	T	17: 26,313,205 (GRCm39)	V43E	probably damaging	Het
Notch1	C	T	2: 26,366,173 (GRCm39)	E794K	probably damaging	Het
Nufip1	A	T	14: 76,363,586 (GRCm39)	K270M	probably damaging	Het
Or10ak16	G	T	4: 118,750,832 (GRCm39)	G184V	probably benign	Het
Or1e30	G	T	11: 73,678,460 (GRCm39)	R232L	probably benign	Het
Or51b6	G	A	7: 103,555,845 (GRCm39)	M66I	probably benign	Het
Or5t5	A	G	2: 86,616,070 (GRCm39)		probably null	Het
Or8g51	A	G	9: 38,609,455 (GRCm39)	I73T	possibly damaging	Het
Pcdhb15	T	A	18: 37,606,823 (GRCm39)	Y18*	probably null	Het
Pcdhb21	A	T	18: 37,646,970 (GRCm39)	Y33F	probably benign	Het
Pds5b	T	A	5: 150,701,686 (GRCm39)	H772Q	possibly damaging	Het
Pik3r4	C	A	9: 105,545,024 (GRCm39)	H168N	probably benign	Het
Pitpnm3	A	G	11: 71,957,986 (GRCm39)	S386P	possibly damaging	Het
Plg	A	G	17: 12,614,641 (GRCm39)	H307R	probably damaging	Het
Prdm9	A	C	17: 15,782,702 (GRCm39)	D96E	probably damaging	Het
Prmt8	A	G	6: 127,745,692 (GRCm39)	S7P	probably damaging	Het
Prune2	T	C	19: 17,095,573 (GRCm39)	V359A	probably benign	Het
Pxn	A	T	5: 115,689,551 (GRCm39)	Q279L	probably benign	Het
Rarb	A	T	14: 16,443,788 (GRCm38)	C167S	probably damaging	Het
Rps6kb2	T	A	19: 4,211,133 (GRCm39)	I131F	probably damaging	Het
Sec14l3	T	A	11: 4,021,484 (GRCm39)	V219E	probably damaging	Het
Simc1	A	G	13: 54,673,217 (GRCm39)	T522A	probably benign	Het
Slc1a6	T	C	10: 78,624,925 (GRCm39)	V110A	possibly damaging	Het
Slc38a11	T	G	2: 65,191,747 (GRCm39)		probably null	Het
Snx13	T	A	12: 35,190,170 (GRCm39)	D840E	probably benign	Het
Sp100	C	A	1: 85,609,985 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,686 (GRCm39)	L104I	probably damaging	Het
Surf4	T	C	2: 26,823,325 (GRCm39)	N4D	probably benign	Het
Tas2r131	A	T	6: 132,934,571 (GRCm39)	D79E	probably benign	Het
Tbc1d20	T	C	2: 152,153,381 (GRCm39)	S304P	probably benign	Het
Tbrg1	T	C	9: 37,566,287 (GRCm39)		probably benign	Het
Tmem214	A	G	5: 31,028,861 (GRCm39)	N150S	probably damaging	Het
Trappc13	A	T	13: 104,286,606 (GRCm39)	I217K	probably benign	Het
Ttc41	T	A	10: 86,572,841 (GRCm39)	C738S	probably benign	Het
Ttn	T	C	2: 76,540,068 (GRCm39)	Q25979R	probably benign	Het
Tubb2b	A	T	13: 34,312,180 (GRCm39)	N204K	probably damaging	Het
Ube3a	T	A	7: 58,938,236 (GRCm39)	M713K	probably damaging	Het
Usp37	T	C	1: 74,534,970 (GRCm39)		probably benign	Het
Vegfb	T	A	19: 6,960,214 (GRCm39)	*189C	probably null	Het
Vmn2r82	A	G	10: 79,214,652 (GRCm39)	N212D	probably benign	Het
Vta1	A	T	10: 14,543,866 (GRCm39)		probably null	Het
Xdh	T	G	17: 74,220,870 (GRCm39)	I620L	possibly damaging	Het
Xpnpep3	A	G	15: 81,320,970 (GRCm39)	Y283C	probably benign	Het
Zscan18	A	G	7: 12,504,791 (GRCm39)	S609P	probably benign	Het

Other mutations in F2rl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:F2rl2	APN	13	95,837,836 (GRCm39)	missense	probably benign	0.00
R0014:F2rl2	UTSW	13	95,837,417 (GRCm39)	missense	probably damaging	0.99
R0014:F2rl2	UTSW	13	95,837,417 (GRCm39)	missense	probably damaging	0.99
R0969:F2rl2	UTSW	13	95,837,461 (GRCm39)	missense	probably damaging	1.00
R1183:F2rl2	UTSW	13	95,837,621 (GRCm39)	missense	probably damaging	0.96
R1482:F2rl2	UTSW	13	95,838,047 (GRCm39)	missense	probably benign	0.02
R1753:F2rl2	UTSW	13	95,837,969 (GRCm39)	missense	probably benign	0.16
R2428:F2rl2	UTSW	13	95,833,585 (GRCm39)	missense	possibly damaging	0.75
R3151:F2rl2	UTSW	13	95,837,638 (GRCm39)	missense	probably benign	0.00
R4678:F2rl2	UTSW	13	95,837,140 (GRCm39)	missense	probably benign	0.10
R5153:F2rl2	UTSW	13	95,833,620 (GRCm39)	missense	probably benign	0.00
R5229:F2rl2	UTSW	13	95,837,195 (GRCm39)	missense	possibly damaging	0.93
R6041:F2rl2	UTSW	13	95,837,617 (GRCm39)	missense	probably benign	0.01
R6146:F2rl2	UTSW	13	95,837,149 (GRCm39)	missense	probably benign	0.08
R6974:F2rl2	UTSW	13	95,837,038 (GRCm39)	missense	probably damaging	0.97
R6993:F2rl2	UTSW	13	95,837,642 (GRCm39)	missense	probably damaging	1.00
R7833:F2rl2	UTSW	13	95,837,426 (GRCm39)	missense	probably damaging	0.96
R7869:F2rl2	UTSW	13	95,837,519 (GRCm39)	missense	probably damaging	0.99
R8187:F2rl2	UTSW	13	95,837,911 (GRCm39)	missense	probably benign	0.00
R8694:F2rl2	UTSW	13	95,837,339 (GRCm39)	missense	probably benign	0.00
R9445:F2rl2	UTSW	13	95,837,622 (GRCm39)	missense	probably benign	0.28
R9694:F2rl2	UTSW	13	95,838,050 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GGGGTCCCCAAAATACCTTTGAAG -3'
(R):5'- GCCGTAGAAAACAACCGTGG -3'

Sequencing Primer
(F):5'- CACTTTCTGACATAGAGGGCTGGAC -3'
(R):5'- AACAACCGTGGTGATCCG -3'

Posted On

2016-12-15