Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:F2rl1'

480908

Institutional Source

Beutler Lab

Gene Symbol

F2rl1

Ensembl Gene

ENSMUSG00000021678

Gene Name

coagulation factor II (thrombin) receptor-like 1

Synonyms

proteinase-activated receptor-2, PAR-2, Par2, Gpcr11, Protease-activated receptor-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95511732-95525227 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95514270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 35 (S35C)

Ref Sequence

ENSEMBL: ENSMUSP00000022185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022185]

AlphaFold

P55086

Predicted Effect

probably benign
Transcript: ENSMUST00000022185
AA Change: S35C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000022185
Gene: ENSMUSG00000021678
AA Change: S35C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:7TM_GPCR_Srv	75	363	3.8e-12	PFAM
Pfam:7TM_GPCR_Srw	82	364	1.2e-10	PFAM
Pfam:7tm_1	94	346	1.5e-42	PFAM
low complexity region	375	398	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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 G-protein coupled receptor 1 family of proteins. The encoded cell surface receptor is activated through proteolytic cleavage of its extracellular amino terminus, resulting in a new amino terminus that acts as a tethered ligand that binds to an extracellular loop domain. Activation of the receptor has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. This protein is also important in the inflammatory response, as well as innate and adaptive immunity. [provided by RefSeq, Jun 2016]
PHENOTYPE: Nullizygous mice may exhibit impaired leukocyte rolling and dendritic cell maturation, altered inflammatory response in various models of acute and chronic inflammatory disease, altered susceptibility to injury and to autoimmune disorders, and abnormal hemodynamic responses and pain thresholds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,508,623	L188*	probably null	Het
Acod1	C	T	14: 103,055,035	R332C	probably damaging	Het
Adamts3	T	A	5: 89,691,335	K852M	probably damaging	Het
Adm	A	T	7: 110,627,696		probably benign	Het
Aff4	A	G	11: 53,373,010	S286G	probably damaging	Het
Ank2	A	G	3: 126,959,651		probably null	Het
Aqr	A	T	2: 114,143,049	Y427*	probably null	Het
Arid1b	C	A	17: 4,994,956		probably benign	Het
Arpp21	T	A	9: 112,143,485	R259*	probably null	Het
Cep290	C	T	10: 100,543,321	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Clcn2	T	C	16: 20,713,654	E68G	possibly damaging	Het
Corin	T	A	5: 72,316,389	H699L	probably benign	Het
Cyld	T	C	8: 88,733,053	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,352,576	E613V	probably damaging	Het
Dlk1	T	C	12: 109,455,581	C74R	probably damaging	Het
Dnah12	A	C	14: 26,697,341	K128T	probably benign	Het
Dspp	T	A	5: 104,178,451	S893R	unknown	Het
Dtl	A	T	1: 191,568,572		probably null	Het
Fcgbp	A	T	7: 28,120,534	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,715,508	D42V	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm21190	T	A	5: 15,524,851	E256D	probably damaging	Het
Gm5157	A	G	7: 21,185,421	S66P	probably damaging	Het
Gm884	A	T	11: 103,613,792	M2450K	possibly damaging	Het
Hal	T	G	10: 93,490,916	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,059,470		probably null	Het
Lrsam1	T	C	2: 32,955,222	T94A	probably benign	Het
Macc1	T	C	12: 119,447,585	V696A	probably damaging	Het
Magi2	G	A	5: 19,227,291	M1I	probably null	Het
March7	C	A	2: 60,245,220	N674K	probably benign	Het
Mfap1b	A	G	2: 121,470,295	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069	S40L	probably benign	Het
Ndufs2	A	T	1: 171,236,418	V386E	probably damaging	Het
Nfic	C	T	10: 81,420,747	A19T	probably damaging	Het
Nfs1	G	A	2: 156,134,453	R174W	probably damaging	Het
Nin	G	T	12: 70,045,524	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,623,507	I754V	probably benign	Het
Nwd1	T	C	8: 72,653,573		probably null	Het
Olfr1231	T	A	2: 89,303,359	T78S	possibly damaging	Het
Olfr1238	T	A	2: 89,406,879	M67L	probably benign	Het
Olfr575	G	T	7: 102,955,009	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,763,449	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,318,993	R638*	probably null	Het
Pkmyt1	G	C	17: 23,735,326	W360S	probably benign	Het
Plxnd1	C	A	6: 115,967,787		probably null	Het
Poldip3	A	T	15: 83,129,229	N322K	probably damaging	Het
Prmt3	A	T	7: 49,828,947	I419L	probably benign	Het
Prss36	A	T	7: 127,944,830	V123E	probably damaging	Het
Prss58	A	G	6: 40,897,769	I46T	probably damaging	Het
Rac1	T	C	5: 143,506,998		probably benign	Het
Rb1cc1	A	G	1: 6,233,996	Y36C	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rp1	A	T	1: 4,148,703	F951L	unknown	Het
Rps6ka5	G	T	12: 100,575,250	P417T	possibly damaging	Het
Ryr1	A	G	7: 29,067,637	W2967R	probably damaging	Het
Sacs	T	A	14: 61,205,543	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,335,456	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,445,996	Y114C	probably damaging	Het
Son	T	C	16: 91,658,904	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534	V447M	probably benign	Het
St3gal2	T	A	8: 110,969,553	Y257N	probably damaging	Het
Tars	A	T	15: 11,397,196	D40E	probably damaging	Het
Tlr3	T	C	8: 45,397,814	H158R	probably benign	Het
Tppp2	G	T	14: 51,918,935	V50L	probably benign	Het
Trrap	T	C	5: 144,810,184	S1503P	probably benign	Het
Ttll4	T	G	1: 74,685,391	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,029,485	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,259,647	C688S	probably damaging	Het
Vps16	T	C	2: 130,424,449		probably null	Het
Zfp608	G	A	18: 54,899,248	T540I	probably benign	Het
Zfp775	G	A	6: 48,619,816	R208Q	probably damaging	Het

Other mutations in F2rl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:F2rl1	APN	13	95513753	missense	probably benign	0.03
IGL01996:F2rl1	APN	13	95513924	missense	probably damaging	1.00
IGL02987:F2rl1	APN	13	95514233	missense	probably benign	0.00
IGL03053:F2rl1	APN	13	95513618	missense	probably benign	0.03
IGL03290:F2rl1	APN	13	95513589	missense	possibly damaging	0.89
PIT4382001:F2rl1	UTSW	13	95513646	missense	probably benign	0.00
R2005:F2rl1	UTSW	13	95513274	missense	probably damaging	1.00
R3794:F2rl1	UTSW	13	95513211	missense	unknown
R4236:F2rl1	UTSW	13	95513288	missense	probably damaging	1.00
R4715:F2rl1	UTSW	13	95513267	missense	probably damaging	0.99
R4741:F2rl1	UTSW	13	95514143	missense	probably damaging	1.00
R4799:F2rl1	UTSW	13	95513969	missense	possibly damaging	0.81
R4870:F2rl1	UTSW	13	95513984	missense	probably damaging	0.99
R6276:F2rl1	UTSW	13	95513938	nonsense	probably null
R7568:F2rl1	UTSW	13	95514014	missense	probably damaging	1.00
R7761:F2rl1	UTSW	13	95513874	missense	probably damaging	1.00
R8087:F2rl1	UTSW	13	95513999	missense	probably damaging	1.00
R8281:F2rl1	UTSW	13	95514077	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGCCATTACTGGGCAAAC -3'
(R):5'- GAACCCAAAACTCTCACTGTTAATG -3'

Sequencing Primer
(F):5'- CCAATCACAAACACAATAATGTAGAC -3'
(R):5'- GCTCAGTGGTAAAATACTTGCC -3'

Posted On

2017-06-26