Mutagenetix > Incidental Mutation

Incidental Mutation 'R3151:F2rl2'

264424

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

040603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3151 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95833428-95839276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95837638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 228 (V228I)

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

probably benign
Transcript: ENSMUST00000022182
AA Change: V228I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: V228I

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	G	8: 25,271,647 (GRCm39)	Y587H	probably damaging	Het
Ahnak	T	C	19: 8,987,308 (GRCm39)	V2864A	probably benign	Het
Ano2	G	A	6: 125,990,280 (GRCm39)		probably null	Het
Arl5c	A	G	11: 97,883,159 (GRCm39)	I147T	probably damaging	Het
Asap2	T	A	12: 21,274,378 (GRCm39)	F369I	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,228 (GRCm39)	F38L	probably benign	Het
B230217C12Rik	TGTGTCG	TG	11: 97,733,014 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,033,532 (GRCm39)	Y1003F	probably damaging	Het
Ccdc178	A	T	18: 21,944,618 (GRCm39)	M847K	probably benign	Het
Clca4b	T	C	3: 144,621,272 (GRCm39)	K601E	probably benign	Het
Cnih4	A	G	1: 180,981,292 (GRCm39)		probably benign	Het
Cnpy3	A	T	17: 47,058,452 (GRCm39)	V57E	probably damaging	Het
Creb3l1	T	A	2: 91,832,378 (GRCm39)	E48V	probably damaging	Het
Dus3l	T	A	17: 57,075,899 (GRCm39)	F482I	probably benign	Het
Dync1i2	A	G	2: 71,064,060 (GRCm39)		probably benign	Het
Echdc1	A	G	10: 29,198,360 (GRCm39)	T102A	possibly damaging	Het
Elf1	G	A	14: 79,804,755 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,770,985 (GRCm39)	Y986C	probably benign	Het
Ep400	G	T	5: 110,851,435 (GRCm39)	T1349N	unknown	Het
Eps15	T	A	4: 109,223,419 (GRCm39)	D458E	probably benign	Het
Fads3	T	G	19: 10,035,262 (GRCm39)	S438A	probably benign	Het
Fcgbp	T	A	7: 27,816,665 (GRCm39)	C2376S	probably damaging	Het
Fndc3b	A	G	3: 27,473,652 (GRCm39)	S1138P	possibly damaging	Het
Ggt5	T	C	10: 75,445,076 (GRCm39)	I361T	probably benign	Het
Gpr158	C	T	2: 21,581,771 (GRCm39)	R417W	possibly damaging	Het
Gria1	A	G	11: 57,174,388 (GRCm39)	I626V	probably damaging	Het
Gys2	T	C	6: 142,402,059 (GRCm39)	E260G	probably benign	Het
Ido2	T	A	8: 25,023,776 (GRCm39)	Y354F	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,543 (GRCm39)	L66P	probably benign	Het
Kremen1	T	C	11: 5,145,012 (GRCm39)	K455E	probably damaging	Het
Krtap19-9b	T	C	16: 88,729,096 (GRCm39)	S2G	unknown	Het
Magea1	A	T	X: 153,872,093 (GRCm39)	M211K	probably benign	Het
Mtx2	G	A	2: 74,677,634 (GRCm39)		probably null	Het
Nlrp14	G	A	7: 106,781,759 (GRCm39)	V319I	probably benign	Het
Nphs1	A	T	7: 30,159,665 (GRCm39)	T33S	probably benign	Het
Or12j2	A	T	7: 139,916,243 (GRCm39)	H156L	probably benign	Het
Or2t6	T	A	14: 14,175,203 (GRCm38)	N293I	probably damaging	Het
Or3a1c	A	T	11: 74,046,466 (GRCm39)	H162L	probably damaging	Het
P2rx7	A	G	5: 122,819,329 (GRCm39)	T584A	probably benign	Het
Pclo	A	G	5: 14,571,692 (GRCm39)	Q359R	probably damaging	Het
Phtf2	T	C	5: 20,970,802 (GRCm39)	E147G	probably damaging	Het
Ptges2	G	A	2: 32,286,488 (GRCm39)	A68T	probably benign	Het
Rab33b	A	T	3: 51,401,069 (GRCm39)	N181I	possibly damaging	Het
Rnf213	A	T	11: 119,359,718 (GRCm39)	R4370S	probably benign	Het
Rpf1	G	A	3: 146,213,390 (GRCm39)	R254W	probably damaging	Het
Serpinb7	A	T	1: 107,363,081 (GRCm39)	R82*	probably null	Het
Setbp1	A	G	18: 78,900,650 (GRCm39)	S1006P	probably damaging	Het
Spata31d1a	T	C	13: 59,849,180 (GRCm39)	S983G	probably benign	Het
Ssr2	T	C	3: 88,487,323 (GRCm39)	I46T	probably damaging	Het
Ssx2ip	G	A	3: 146,124,138 (GRCm39)	G51D	probably benign	Het
Synj1	A	T	16: 90,757,514 (GRCm39)	L878H	probably damaging	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tln2	C	T	9: 67,237,829 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,862 (GRCm39)	L542P	probably damaging	Het
Trp53bp2	A	G	1: 182,256,525 (GRCm39)	T32A	probably damaging	Het
Vmn1r40	A	T	6: 89,691,548 (GRCm39)	T122S	probably benign	Het
Vmn2r121	C	T	X: 123,040,849 (GRCm39)	C494Y	probably benign	Het
Vmn2r51	A	T	7: 9,833,968 (GRCm39)	Y357N	probably damaging	Het
Vmn2r55	G	T	7: 12,404,634 (GRCm39)	S256R	probably benign	Het
Vps8	A	G	16: 21,261,123 (GRCm39)	T88A	probably benign	Het
Zfp977	A	C	7: 42,229,870 (GRCm39)	N218K	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
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
R5635:F2rl2	UTSW	13	95,837,290 (GRCm39)	missense	possibly damaging	0.88
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'- ACCACGGTTGTTTTCTACGG -3'
(R):5'- CCTTGATGTAGCCCAGCCATATC -3'

Sequencing Primer
(F):5'- GGCAACATGTACTGCGCTATC -3'
(R):5'- GATGTAGCCCAGCCATATCCGATC -3'

Posted On

2015-02-05