Mutagenetix > Incidental Mutation

Incidental Mutation 'R0014:F2rl2'

64876

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

038309-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0014 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

95833428-95839276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95837417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 154 (N154I)

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 damaging
Transcript: ENSMUST00000022182
AA Change: N154I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: N154I

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

0.1939

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (68/68)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,791,581 (GRCm39)	D92V	probably damaging	Het
Ankrd52	C	A	10: 128,222,321 (GRCm39)	T583K	probably benign	Het
C3ar1	C	T	6: 122,827,810 (GRCm39)	V136M	probably damaging	Het
Capg	A	G	6: 72,538,026 (GRCm39)	E304G	possibly damaging	Het
Ccdc125	A	C	13: 100,820,846 (GRCm39)	N189T	possibly damaging	Het
Ccr5	T	C	9: 123,924,658 (GRCm39)	F87S	probably damaging	Het
Cd2ap	T	C	17: 43,118,819 (GRCm39)	S540G	probably benign	Het
Cdt1	C	T	8: 123,299,305 (GRCm39)	T529M	probably benign	Het
Cfap126	A	G	1: 170,953,353 (GRCm39)	D49G	possibly damaging	Het
Cngb3	T	C	4: 19,396,685 (GRCm39)	I346T	probably benign	Het
Degs1l	T	C	1: 180,882,696 (GRCm39)	F153L	possibly damaging	Het
Dgkd	A	G	1: 87,809,603 (GRCm39)	D97G	probably damaging	Het
Dgkg	A	T	16: 22,384,114 (GRCm39)		probably null	Het
Dmbx1	G	T	4: 115,775,221 (GRCm39)	T358K	probably damaging	Het
Dnai3	T	C	3: 145,787,178 (GRCm39)		probably null	Het
Epc2	A	T	2: 49,412,537 (GRCm39)	K172*	probably null	Het
Fyttd1	G	A	16: 32,725,924 (GRCm39)	R175Q	probably damaging	Het
Gbp5	T	A	3: 142,212,496 (GRCm39)	C395S	probably damaging	Het
Gen1	T	C	12: 11,291,642 (GRCm39)	N716D	probably benign	Het
Helz2	A	G	2: 180,882,304 (GRCm39)	L163P	probably damaging	Het
Hmox2	T	A	16: 4,582,897 (GRCm39)	L210Q	probably damaging	Het
Klhl28	T	C	12: 65,004,076 (GRCm39)	T146A	probably benign	Het
Lrrk2	T	C	15: 91,686,248 (GRCm39)		probably benign	Het
Man2c1	T	A	9: 57,046,985 (GRCm39)	M580K	probably benign	Het
Neb	G	A	2: 52,177,168 (GRCm39)	A1391V	probably damaging	Het
Nyap2	T	C	1: 81,219,666 (GRCm39)	S563P	probably damaging	Het
Or2at4	T	C	7: 99,385,256 (GRCm39)	V302A	probably damaging	Het
Or4k51	A	G	2: 111,585,119 (GRCm39)	D175G	probably damaging	Het
Or55b3	A	G	7: 102,126,684 (GRCm39)	I131T	probably damaging	Het
P2rx5	T	A	11: 73,057,888 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,730,465 (GRCm39)		probably benign	Het
Pex1	G	A	5: 3,676,141 (GRCm39)		probably benign	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Psma8	A	G	18: 14,859,587 (GRCm39)	I86V	possibly damaging	Het
Ptpdc1	G	T	13: 48,740,395 (GRCm39)	Y345*	probably null	Het
Rcbtb1	G	T	14: 59,472,691 (GRCm39)	K493N	probably benign	Het
Rexo2	A	T	9: 48,385,747 (GRCm39)	S126T	probably benign	Het
Rorc	T	A	3: 94,284,920 (GRCm39)		probably benign	Het
Slc7a2	T	C	8: 41,364,065 (GRCm39)	L426P	probably damaging	Het
Syde1	T	C	10: 78,425,868 (GRCm39)	T100A	probably benign	Het
Tbc1d20	A	T	2: 152,153,701 (GRCm39)	Q342L	probably benign	Het
Thbs1	A	G	2: 117,943,831 (GRCm39)	T150A	possibly damaging	Het
Trpm1	A	G	7: 63,897,970 (GRCm39)	H317R	probably damaging	Het
Tut1	T	A	19: 8,939,811 (GRCm39)	L265Q	possibly damaging	Het
Wdfy4	A	G	14: 32,829,130 (GRCm39)	F1029L	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp458	A	G	13: 67,406,154 (GRCm39)	V95A	possibly damaging	Het
Zscan18	A	T	7: 12,503,344 (GRCm39)	F738L	possibly damaging	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
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
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'- ACTATAAAAGCGGAGTGTCCCGAGG -3'
(R):5'- TGCCACACATGAGCATGGAGAAGC -3'

Sequencing Primer
(F):5'- TGTCCCGAGGACAGTATTTCAAC -3'
(R):5'- CATGGAGAAGCTGCGTTTG -3'

Posted On

2013-08-06