Mutagenetix > Incidental Mutation

Incidental Mutation 'R4357:Cysltr2'

324628

Institutional Source

Beutler Lab

Gene Symbol

Cysltr2

Ensembl Gene

ENSMUSG00000033470

Gene Name

cysteinyl leukotriene receptor 2

Synonyms

CysLT2, 2300001H05Rik, Cyslt2, CYSLT2R

MMRRC Submission

041109-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4357 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73263043-73286554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73267084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 209 (I209V)

Ref Sequence

ENSEMBL: ENSMUSP00000125958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044664] [ENSMUST00000169168]

AlphaFold

Q920A1

Predicted Effect

probably benign
Transcript: ENSMUST00000044664
AA Change: I209V

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040715
Gene: ENSMUSG00000033470
AA Change: I209V

Domain	Start	End	E-Value	Type
Pfam:TAS2R	18	307	1.6e-8	PFAM
Pfam:7tm_1	39	289	2.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169168
AA Change: I209V

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125958
Gene: ENSMUSG00000033470
AA Change: I209V

Domain	Start	End	E-Value	Type
Pfam:TAS2R	18	307	1.4e-8	PFAM
Pfam:7tm_1	39	289	1.3e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228154

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced bleomycin-induced pulmonary fibrosis and reduced IgE dependent passive cutaneous anaphylaxis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,248,084 (GRCm39)	T65A	possibly damaging	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Ap4m1	A	G	5: 138,171,311 (GRCm39)	E125G	probably damaging	Het
Atp13a2	C	A	4: 140,729,215 (GRCm39)	D599E	probably benign	Het
Brme1	T	C	8: 84,886,221 (GRCm39)	L59P	probably benign	Het
Camkv	G	A	9: 107,825,145 (GRCm39)	G354E	probably benign	Het
Casp8ap2	T	A	4: 32,646,150 (GRCm39)	M1741K	probably benign	Het
Chtf18	T	C	17: 25,938,106 (GRCm39)	D119G	probably benign	Het
Cnga1	T	A	5: 72,775,595 (GRCm39)	D42V	probably damaging	Het
Defa27	A	T	8: 21,805,608 (GRCm39)	Q16L	probably null	Het
Dnaja3	T	C	16: 4,517,731 (GRCm39)	I321T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif2ak3	T	A	6: 70,861,859 (GRCm39)	I467N	probably damaging	Het
Eif5b	T	A	1: 38,089,339 (GRCm39)	V1105E	probably damaging	Het
Gfod2	T	C	8: 106,444,177 (GRCm39)	N122S	possibly damaging	Het
Gm10803	A	G	2: 93,394,350 (GRCm39)	R41G	unknown	Het
Gm38392	A	T	3: 88,154,741 (GRCm39)	I221N	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hsd17b6	G	T	10: 127,829,637 (GRCm39)		probably null	Het
Ids	C	A	X: 69,389,950 (GRCm39)	G506C	probably damaging	Het
Ifna15	G	T	4: 88,476,079 (GRCm39)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827 (GRCm39)		probably null	Het
Lats2	A	G	14: 57,936,840 (GRCm39)	S550P	probably damaging	Het
Lmo7	A	G	14: 102,125,091 (GRCm39)	R406G	probably null	Het
Lpcat2	C	A	8: 93,599,734 (GRCm39)	P234Q	probably benign	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Lrrfip2	A	G	9: 111,028,755 (GRCm39)	E326G	probably damaging	Het
Megf8	T	A	7: 25,055,174 (GRCm39)	I1969N	probably benign	Het
Mib1	A	G	18: 10,751,844 (GRCm39)	N242S	probably benign	Het
Ngf	A	G	3: 102,427,521 (GRCm39)	E94G	probably benign	Het
Oas2	C	T	5: 120,876,734 (GRCm39)		probably null	Het
Odf2	A	G	2: 29,782,256 (GRCm39)	T75A	probably benign	Het
Or4f60	A	G	2: 111,902,583 (GRCm39)	L115P	probably damaging	Het
Or5w11	T	A	2: 87,458,810 (GRCm39)	M1K	probably null	Het
Pi4ka	T	A	16: 17,185,303 (GRCm39)	I266F	probably benign	Het
Prps2	T	A	X: 166,146,545 (GRCm39)	K176*	probably null	Het
Psmd2	T	G	16: 20,475,402 (GRCm39)	D393E	probably benign	Het
Rabep2	A	G	7: 126,047,397 (GRCm39)	I753T	probably damaging	Het
Rara	A	C	11: 98,858,937 (GRCm39)	I129L	probably damaging	Het
Rasgrf2	C	A	13: 92,038,796 (GRCm39)	D1017Y	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Spmip4	T	C	6: 50,551,190 (GRCm39)	T420A	probably benign	Het
Spsb1	T	C	4: 149,991,232 (GRCm39)	H112R	probably damaging	Het
Sptlc1	A	T	13: 53,528,068 (GRCm39)	I32K	probably damaging	Het
Srd5a3	T	A	5: 76,295,547 (GRCm39)	F79Y	probably damaging	Het
Ssrp1	A	T	2: 84,871,495 (GRCm39)	M306L	probably benign	Het
Sulf2	T	C	2: 165,919,497 (GRCm39)	E817G	probably benign	Het
Tiam2	C	A	17: 3,501,128 (GRCm39)	D922E	probably damaging	Het
Tle4	A	G	19: 14,445,625 (GRCm39)	V207A	probably benign	Het
Ttll12	A	T	15: 83,465,958 (GRCm39)	C413S	probably damaging	Het
Usp45	T	A	4: 21,834,350 (GRCm39)	Y809*	probably null	Het
Vmn2r59	G	A	7: 41,661,644 (GRCm39)	P724S	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het

Other mutations in Cysltr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03211:Cysltr2	APN	14	73,267,155 (GRCm39)	missense	possibly damaging	0.90
R1223:Cysltr2	UTSW	14	73,267,539 (GRCm39)	missense	probably damaging	1.00
R1689:Cysltr2	UTSW	14	73,267,470 (GRCm39)	missense	possibly damaging	0.75
R1695:Cysltr2	UTSW	14	73,267,321 (GRCm39)	missense	probably benign	0.01
R1898:Cysltr2	UTSW	14	73,266,973 (GRCm39)	missense	probably damaging	1.00
R3968:Cysltr2	UTSW	14	73,267,614 (GRCm39)	missense	probably damaging	0.99
R4013:Cysltr2	UTSW	14	73,267,005 (GRCm39)	missense	probably damaging	1.00
R4444:Cysltr2	UTSW	14	73,267,333 (GRCm39)	missense	possibly damaging	0.74
R4445:Cysltr2	UTSW	14	73,267,333 (GRCm39)	missense	possibly damaging	0.74
R5207:Cysltr2	UTSW	14	73,266,951 (GRCm39)	missense	probably damaging	0.99
R5591:Cysltr2	UTSW	14	73,266,931 (GRCm39)	missense	probably benign	0.00
R5592:Cysltr2	UTSW	14	73,266,931 (GRCm39)	missense	probably benign	0.00
R5593:Cysltr2	UTSW	14	73,266,931 (GRCm39)	missense	probably benign	0.00
R5839:Cysltr2	UTSW	14	73,267,623 (GRCm39)	missense	probably damaging	1.00
R5885:Cysltr2	UTSW	14	73,266,931 (GRCm39)	missense	probably benign	0.00
R5886:Cysltr2	UTSW	14	73,266,931 (GRCm39)	missense	probably benign	0.00
R5934:Cysltr2	UTSW	14	73,266,931 (GRCm39)	missense	probably benign	0.00
R5940:Cysltr2	UTSW	14	73,267,389 (GRCm39)	missense	probably damaging	1.00
R5940:Cysltr2	UTSW	14	73,266,931 (GRCm39)	missense	probably benign	0.00
R7775:Cysltr2	UTSW	14	73,267,203 (GRCm39)	missense	probably benign	0.00
R7778:Cysltr2	UTSW	14	73,267,203 (GRCm39)	missense	probably benign	0.00
R7824:Cysltr2	UTSW	14	73,267,203 (GRCm39)	missense	probably benign	0.00
R7939:Cysltr2	UTSW	14	73,267,399 (GRCm39)	missense	possibly damaging	0.95
R8719:Cysltr2	UTSW	14	73,267,111 (GRCm39)	missense	possibly damaging	0.90
R8750:Cysltr2	UTSW	14	73,267,078 (GRCm39)	missense	probably benign
R9764:Cysltr2	UTSW	14	73,266,906 (GRCm39)	missense	probably damaging	1.00
X0009:Cysltr2	UTSW	14	73,267,419 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TATGTAGCACATCCCCACATG -3'
(R):5'- TGTCACCAGTGTCAGGAGTG -3'

Sequencing Primer
(F):5'- GAATCTTTATCCCATGTGACCAAGTG -3'
(R):5'- AGGAGTGCCTGGATCCTCTG -3'

Posted On

2015-06-24