Mutagenetix > Incidental Mutation

Incidental Mutation 'R4066:Ltb4r1'

316127

Institutional Source

Beutler Lab

Gene Symbol

Ltb4r1

Ensembl Gene

ENSMUSG00000046908

Gene Name

leukotriene B4 receptor 1

Synonyms

mBLTR, BLT1, BLTR

MMRRC Submission

040973-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56003419-56005951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56004952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 85 (W85L)

Ref Sequence

ENSEMBL: ENSMUSP00000051368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000044554] [ENSMUST00000057569] [ENSMUST00000170223]

AlphaFold

O88855

Predicted Effect

probably benign
Transcript: ENSMUST00000002398

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220

Domain	Start	End	E-Value	Type
low complexity region	28	48	N/A	INTRINSIC
low complexity region	66	80	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	2.4e-35	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000044554

SMART Domains

Protein: ENSMUSP00000048358
Gene: ENSMUSG00000040432

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
Pfam:7tm_1	37	288	5.7e-31	PFAM
low complexity region	309	323	N/A	INTRINSIC
low complexity region	337	351	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000057569
AA Change: W85L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051368
Gene: ENSMUSG00000046908
AA Change: W85L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	28	196	7.4e-7	PFAM
Pfam:7TM_GPCR_Srsx	31	249	2e-8	PFAM
Pfam:7tm_1	37	285	1.3e-42	PFAM
Pfam:Serpentine_r_xa	54	201	2.8e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170223

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	61	80	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	119	138	N/A	INTRINSIC
transmembrane domain	145	162	N/A	INTRINSIC
transmembrane domain	172	194	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	1.6e-24	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228302

Meta Mutation Damage Score

0.9665

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

96% (50/52)

MGI Phenotype

PHENOTYPE: Nullizygous mutations cause impaired Ltb4-driven chemotaxis and adhesion. Homozygous null phenotypes include attenuated autoAb-driven arthritis, adoptive transfer-induced uveitis, airway hyperresponsiveness and Th2-type immune responses, and reduced eosinophil recruitment in induced peritonitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	T	1: 63,602,584 (GRCm39)	H582L	probably damaging	Het
Ankrd13d	C	T	19: 4,320,388 (GRCm39)	A118T	probably benign	Het
Arhgap30	C	T	1: 171,235,891 (GRCm39)	T755I	probably benign	Het
Cab39l	A	G	14: 59,784,454 (GRCm39)	H285R	probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Dspp	T	A	5: 104,325,060 (GRCm39)	N474K	unknown	Het
Fanci	T	C	7: 79,062,505 (GRCm39)		probably null	Het
Fras1	T	A	5: 96,918,542 (GRCm39)	I3526K	possibly damaging	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gm12258	C	T	11: 58,749,352 (GRCm39)	L176F	probably benign	Het
Gm8220	A	T	14: 44,523,095 (GRCm39)	R12*	probably null	Het
Hecw1	T	C	13: 14,491,016 (GRCm39)	S659G	probably damaging	Het
Hnrnpr	C	A	4: 136,066,657 (GRCm39)		probably benign	Het
Htt	C	T	5: 35,036,191 (GRCm39)	T2046I	probably benign	Het
Kat7	T	C	11: 95,174,967 (GRCm39)	D259G	possibly damaging	Het
Klra9	T	C	6: 130,165,707 (GRCm39)	T103A	probably benign	Het
Lad1	A	G	1: 135,755,165 (GRCm39)	E147G	probably damaging	Het
Lipo2	T	C	19: 33,698,259 (GRCm39)	I373V	probably benign	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Myl10	A	G	5: 136,724,304 (GRCm39)	K70E	probably damaging	Het
Nptx2	G	T	5: 144,493,122 (GRCm39)	W403L	probably damaging	Het
Nyap2	A	G	1: 81,219,550 (GRCm39)	Y524C	probably damaging	Het
Or4a72	T	A	2: 89,405,523 (GRCm39)	L182F	probably damaging	Het
Or6b2b	A	G	1: 92,418,911 (GRCm39)	C189R	probably damaging	Het
Or8b1	T	A	9: 38,399,778 (GRCm39)	M151K	probably benign	Het
Pde9a	A	G	17: 31,662,812 (GRCm39)	*64W	probably null	Het
Ppp2r5b	T	C	19: 6,279,360 (GRCm39)	Y379C	probably damaging	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Recql4	A	G	15: 76,590,027 (GRCm39)	Y673H	probably damaging	Het
Rnps1-ps	T	A	6: 7,983,009 (GRCm39)		noncoding transcript	Het
Shcbp1	A	G	8: 4,798,716 (GRCm39)	I401T	probably damaging	Het
Shd	A	T	17: 56,278,581 (GRCm39)	D48V	probably damaging	Het
Slc14a1	A	G	18: 78,154,592 (GRCm39)	W209R	probably damaging	Het
Slc2a9	T	C	5: 38,640,692 (GRCm39)	K6E	probably benign	Het
Slco6d1	A	G	1: 98,391,571 (GRCm39)		probably benign	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stau2	A	G	1: 16,464,283 (GRCm39)	S156P	possibly damaging	Het
Stmn2	T	C	3: 8,574,668 (GRCm39)		probably benign	Het
Togaram2	C	A	17: 72,023,233 (GRCm39)		probably benign	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Wdfy3	C	T	5: 102,070,313 (GRCm39)	V1152I	probably benign	Het
Xpo4	G	T	14: 57,825,511 (GRCm39)	H939N	probably benign	Het

Other mutations in Ltb4r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1104:Ltb4r1	UTSW	14	56,004,832 (GRCm39)	missense	probably damaging	1.00
R1626:Ltb4r1	UTSW	14	56,004,699 (GRCm39)	start codon destroyed	probably null
R4680:Ltb4r1	UTSW	14	56,004,925 (GRCm39)	missense	probably damaging	1.00
R5501:Ltb4r1	UTSW	14	56,005,539 (GRCm39)	missense	probably damaging	1.00
R5584:Ltb4r1	UTSW	14	56,004,844 (GRCm39)	missense	possibly damaging	0.81
R6368:Ltb4r1	UTSW	14	56,005,200 (GRCm39)	missense	probably benign	0.00
R7449:Ltb4r1	UTSW	14	56,005,375 (GRCm39)	missense	probably damaging	1.00
R8121:Ltb4r1	UTSW	14	56,005,579 (GRCm39)	missense	probably damaging	1.00
RF007:Ltb4r1	UTSW	14	56,005,426 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCTGCAAACACTACATCTCCTG -3'
(R):5'- TACACAAGGACCGGTATGGC -3'

Sequencing Primer
(F):5'- GGTGGCATGTCCCTGTCTC -3'
(R):5'- ACCGGTATGGCCAGCAG -3'

Posted On

2015-05-15