Mutagenetix > Incidental Mutations

Incidental Mutation 'R6993:F2rl2'

543991

Institutional Source

Beutler Lab

Gene Symbol

F2rl2

Ensembl Gene

ENSMUSG00000021675

Gene Name

coagulation factor II (thrombin) receptor-like 2

Synonyms

PAR3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95696853-95702739 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95701134 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 229 (I229N)

Ref Sequence

ENSEMBL: ENSMUSP00000022182 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022182
AA Change: I229N

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

SMART Domains

Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: I229N

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,248,424	E10G	possibly damaging	Het
Akap9	A	G	5: 4,065,866	I3429V	possibly damaging	Het
Braf	T	A	6: 39,643,163	I441F	probably damaging	Het
C5ar1	A	T	7: 16,248,912	V61E	probably damaging	Het
Camk2a	C	A	18: 60,943,175		probably benign	Het
Cd163	A	G	6: 124,317,714	Y579C	probably damaging	Het
Celf1	T	C	2: 91,010,476	Y363H	probably damaging	Het
Cntn3	T	C	6: 102,278,404	T178A	probably damaging	Het
Cryab	C	T	9: 50,753,448	P58S	probably benign	Het
Ctsf	G	T	19: 4,858,483	R290L	probably benign	Het
Ctsw	T	A	19: 5,465,837	I258F	probably damaging	Het
Dnah7b	T	C	1: 46,195,139		probably null	Het
Drg1	TCATCTTCCA	TCA	11: 3,250,294		probably null	Het
Etfb	A	G	7: 43,456,554	T172A	possibly damaging	Het
Etfdh	A	G	3: 79,612,031	Y272H	probably benign	Het
Ewsr1	C	T	11: 5,071,573	R454Q	probably benign	Het
Fam162a	A	T	16: 36,049,845	I88N	probably damaging	Het
Fastkd5	A	G	2: 130,616,539	S44P	probably benign	Het
Fat3	T	G	9: 15,919,221	S4326R	probably damaging	Het
Fbf1	T	C	11: 116,152,784	K400E	probably benign	Het
Fndc7	A	G	3: 108,876,591	V234A	probably benign	Het
Gfi1	T	A	5: 107,717,768	H481L	probably damaging	Het
Gm5591	T	A	7: 38,519,223	H742L	probably benign	Het
Gm5724	G	A	6: 141,765,742	T81I	possibly damaging	Het
Gm853	A	G	4: 130,218,313	L192P	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
H2-DMb1	A	C	17: 34,157,350	T148P	possibly damaging	Het
H2-T3	A	G	17: 36,187,070	L317P	probably damaging	Het
Hes3	T	C	4: 152,286,923	T190A	probably benign	Het
Hivep1	C	T	13: 42,158,714	L1477F	possibly damaging	Het
Insr	C	T	8: 3,258,752	G95S	probably damaging	Het
Irf9	A	G	14: 55,608,957	I394V	probably benign	Het
Kat2b	T	C	17: 53,638,522	L323P	probably damaging	Het
Kdr	T	C	5: 75,972,411	D69G	probably benign	Het
Krt2	C	T	15: 101,815,960	E290K	probably damaging	Het
Krtap4-6	G	T	11: 99,665,719	R61S	unknown	Het
Lrrc27	A	T	7: 139,242,624	K477M	probably damaging	Het
Lvrn	T	C	18: 46,882,298	V579A	probably benign	Het
Malrd1	A	T	2: 16,150,791	I2004L	unknown	Het
Mast4	A	T	13: 102,735,974	N2103K	probably benign	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Myo18a	T	A	11: 77,859,074		probably benign	Het
Olfr597	G	T	7: 103,320,791		probably benign	Het
Olfr975	T	A	9: 39,950,637	M45L	probably benign	Het
Pcdhga10	A	G	18: 37,749,256	Y690C	probably damaging	Het
Pdcd2	A	G	17: 15,527,081	Y65H	probably damaging	Het
Ppp1r12a	A	G	10: 108,240,837	E309G	probably benign	Het
Psmb8	A	G	17: 34,199,643	D123G	probably damaging	Het
Ptcd3	A	T	6: 71,885,315	W513R	probably damaging	Het
Ptx4	G	A	17: 25,124,924	V383I	possibly damaging	Het
Ric1	T	C	19: 29,586,613	L589S	probably damaging	Het
Rmnd5b	A	G	11: 51,624,600		probably benign	Het
Sec16a	A	T	2: 26,423,574	S1925T	probably damaging	Het
Slc16a11	T	A	11: 70,216,016	M360K	possibly damaging	Het
Slc19a2	T	A	1: 164,260,822	F79I	probably benign	Het
Slc2a6	G	T	2: 27,027,243	S45R	probably damaging	Het
Sppl3	T	A	5: 115,082,290	M87K	probably damaging	Het
Tbcel	A	T	9: 42,416,117	L330*	probably null	Het
Tbx5	A	T	5: 119,871,389	Y321F	possibly damaging	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Unc45a	A	T	7: 80,325,655	Y934N	probably damaging	Het
Unc80	A	T	1: 66,549,793	Q1039L	possibly damaging	Het
Vmn2r112	T	C	17: 22,603,214	L291P	probably benign	Het
Wwc2	A	T	8: 47,847,465	F988I	unknown	Het
Zfp947	G	A	17: 22,145,980	P238S	probably benign	Het

Other mutations in F2rl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:F2rl2	APN	13	95701328	missense	probably benign	0.00
R0014:F2rl2	UTSW	13	95700909	missense	probably damaging	0.99
R0014:F2rl2	UTSW	13	95700909	missense	probably damaging	0.99
R0969:F2rl2	UTSW	13	95700953	missense	probably damaging	1.00
R1183:F2rl2	UTSW	13	95701113	missense	probably damaging	0.96
R1482:F2rl2	UTSW	13	95701539	missense	probably benign	0.02
R1753:F2rl2	UTSW	13	95701461	missense	probably benign	0.16
R2428:F2rl2	UTSW	13	95697077	missense	possibly damaging	0.75
R3151:F2rl2	UTSW	13	95701130	missense	probably benign	0.00
R4678:F2rl2	UTSW	13	95700632	missense	probably benign	0.10
R5153:F2rl2	UTSW	13	95697112	missense	probably benign	0.00
R5229:F2rl2	UTSW	13	95700687	missense	possibly damaging	0.93
R5635:F2rl2	UTSW	13	95700782	missense	possibly damaging	0.88
R6041:F2rl2	UTSW	13	95701109	missense	probably benign	0.01
R6146:F2rl2	UTSW	13	95700641	missense	probably benign	0.08
R6974:F2rl2	UTSW	13	95700530	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGATCACCACGGTTGTTTTCTAC -3'
(R):5'- ATGTAGCCCAGCCATATCCG -3'

Sequencing Primer
(F):5'- TCTACGGCAACATGTACTGCG -3'
(R):5'- GCCATATCCGATCCTTTGATTTAAG -3'

Posted On

2019-05-13