Mutagenetix > Incidental Mutation

Incidental Mutation 'R9694:F2rl2'

735976

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9694 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95833428-95839276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95838050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 365 (D365V)

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: D365V

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: D365V

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,899,573 (GRCm39)	Y948N	probably damaging	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adamts4	T	C	1: 171,081,530 (GRCm39)	S395P	probably benign	Het
Adcy1	T	C	11: 7,094,774 (GRCm39)	Y567H	probably damaging	Het
Agap3	A	G	5: 24,682,139 (GRCm39)	N212D	probably benign	Het
Atp2a2	A	G	5: 122,597,708 (GRCm39)	F775S	probably damaging	Het
Baz1b	A	T	5: 135,273,094 (GRCm39)	Q1406L	probably benign	Het
C030006K11Rik	A	T	15: 76,607,928 (GRCm39)	V30D	possibly damaging	Het
Cep170b	T	A	12: 112,701,993 (GRCm39)	V262E	probably damaging	Het
Cgnl1	C	T	9: 71,632,803 (GRCm39)	G183R	probably benign	Het
Chd8	A	G	14: 52,441,341 (GRCm39)	I2257T	possibly damaging	Het
Chrna7	A	G	7: 62,754,809 (GRCm39)	I266T	probably damaging	Het
Cyp3a25	A	T	5: 145,923,685 (GRCm39)	Y319*	probably null	Het
Dcdc2a	A	T	13: 25,286,340 (GRCm39)	I125F	probably benign	Het
Dcdc2c	A	T	12: 28,585,553 (GRCm39)	I80N		Het
Dmtn	T	C	14: 70,852,732 (GRCm39)		probably null	Het
Dock2	T	C	11: 34,218,054 (GRCm39)	N1172S	probably benign	Het
Dock9	A	G	14: 121,818,791 (GRCm39)	S1564P	probably damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Eif4enif1	C	T	11: 3,170,384 (GRCm39)	L146F	probably damaging	Het
Ergic1	T	G	17: 26,843,585 (GRCm39)	D59E	probably benign	Het
Fbxl16	C	T	17: 26,036,813 (GRCm39)	Q265*	probably null	Het
Fbxw26	T	C	9: 109,575,135 (GRCm39)		probably benign	Het
Fras1	A	T	5: 96,929,545 (GRCm39)	Y3983F	probably benign	Het
G6pd2	T	A	5: 61,966,460 (GRCm39)	D78E	probably benign	Het
Gas2l2	A	C	11: 83,314,170 (GRCm39)	S381A	possibly damaging	Het
Gm57858	A	G	3: 36,073,092 (GRCm39)	S397P	possibly damaging	Het
Grk2	G	A	19: 4,338,511 (GRCm39)	R474C	probably damaging	Het
Gxylt2	T	A	6: 100,710,174 (GRCm39)	V105E	probably benign	Het
Hexd	T	C	11: 121,107,813 (GRCm39)	V181A	probably damaging	Het
Ift70a2	T	C	2: 75,807,691 (GRCm39)	T274A	probably benign	Het
Ik	T	A	18: 36,877,840 (GRCm39)	D5E	probably benign	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Itpr3	C	T	17: 27,334,927 (GRCm39)	T2147I	probably damaging	Het
Kif1a	A	T	1: 92,950,173 (GRCm39)	V1418E	probably benign	Het
Kif26b	T	C	1: 178,743,815 (GRCm39)	C1304R	probably benign	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lvrn	A	T	18: 47,033,609 (GRCm39)	D940V	probably damaging	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Mrgpra1	A	T	7: 46,985,268 (GRCm39)	L137Q	probably damaging	Het
Npc2	C	A	12: 84,807,638 (GRCm39)	L73F	probably benign	Het
Or11g26	A	G	14: 50,752,669 (GRCm39)	T3A	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or5al1	T	C	2: 85,990,681 (GRCm39)	E11G	probably benign	Het
Or5b97	A	T	19: 12,879,021 (GRCm39)	V41E	probably damaging	Het
Or5j3	T	C	2: 86,128,718 (GRCm39)	I186T	probably benign	Het
Osbpl1a	T	C	18: 12,952,565 (GRCm39)	H533R	probably benign	Het
Pax7	G	A	4: 139,556,819 (GRCm39)	T147M	probably benign	Het
Pdik1l	A	T	4: 134,006,711 (GRCm39)	S143T	unknown	Het
Prkg1	T	G	19: 30,764,371 (GRCm39)	T255P	possibly damaging	Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Ptprz1	A	T	6: 22,959,694 (GRCm39)	I64F	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rab8b	T	C	9: 66,826,824 (GRCm39)	D31G	probably benign	Het
Radil	A	G	5: 142,473,378 (GRCm39)	S768P	probably damaging	Het
Rbm5	A	T	9: 107,622,152 (GRCm39)	D607E	probably benign	Het
Reep6	T	A	10: 80,169,393 (GRCm39)	V131E	probably damaging	Het
Rrbp1	T	A	2: 143,832,099 (GRCm39)	I23F	probably damaging	Het
Rubcn	A	T	16: 32,663,481 (GRCm39)	V385D	probably benign	Het
Sall2	C	T	14: 52,552,124 (GRCm39)	G357D	possibly damaging	Het
Slc12a6	T	A	2: 112,174,881 (GRCm39)	L547H	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Stab1	C	T	14: 30,876,901 (GRCm39)	A808T	probably benign	Het
Stag1	A	G	9: 100,810,151 (GRCm39)	T785A	probably benign	Het
Stambpl1	T	G	19: 34,211,535 (GRCm39)	S199A	probably benign	Het
Styxl2	A	T	1: 165,928,654 (GRCm39)	S319R	probably damaging	Het
Supt20	C	T	3: 54,623,015 (GRCm39)	S496L	probably benign	Het
Tanc1	T	C	2: 59,626,196 (GRCm39)	F518L	probably damaging	Het
Tdpoz3	T	A	3: 93,734,156 (GRCm39)	V277D	probably benign	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Vmn1r192	G	A	13: 22,372,119 (GRCm39)	P34S	probably benign	Het
Wipf3	T	C	6: 54,466,004 (GRCm39)	S421P	possibly damaging	Het
Zfp296	A	G	7: 19,314,227 (GRCm39)	K361E	possibly damaging	Het
Zfp882	T	A	8: 72,667,915 (GRCm39)	N247K	probably benign	Het
Zfpm2	A	G	15: 40,965,710 (GRCm39)	T732A	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
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

Predicted Primers

PCR Primer
(F):5'- ATGGCTGGGCTACATCAAGG -3'
(R):5'- CATTGCCATCGGAATACTGC -3'

Sequencing Primer
(F):5'- GCTACATCAAGGCCGTCCTC -3'
(R):5'- GATCTCTGTGAGTTCAAGGCTAACC -3'

Posted On

2022-11-14