Mutagenetix > Incidental Mutation

Incidental Mutation 'R5584:Ltb4r1'

438634

Institutional Source

Beutler Lab

Gene Symbol

Ltb4r1

Ensembl Gene

ENSMUSG00000046908

Gene Name

leukotriene B4 receptor 1

Synonyms

mBLTR, BLT1, BLTR

MMRRC Submission

043138-MU

Accession Numbers

Essential gene?

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

Stock #

R5584 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56003419-56005951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56004844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 49 (M49K)

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

possibly damaging
Transcript: ENSMUST00000057569
AA Change: M49K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051368
Gene: ENSMUSG00000046908
AA Change: M49K

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,553,386 (GRCm39)	G5496D	probably damaging	Het
Akr1c19	A	T	13: 4,293,031 (GRCm39)	Q262H	probably damaging	Het
Cntn5	T	C	9: 9,661,457 (GRCm39)	T1070A	possibly damaging	Het
Efcab14	T	C	4: 115,621,794 (GRCm39)	V358A	possibly damaging	Het
Epb41l4a	G	T	18: 33,987,324 (GRCm39)	T351N	probably damaging	Het
Etaa1	A	T	11: 17,897,406 (GRCm39)	V237E	possibly damaging	Het
Ezh2	A	T	6: 47,508,950 (GRCm39)	N684K	probably damaging	Het
Flnc	A	G	6: 29,446,627 (GRCm39)	T946A	probably damaging	Het
Fstl5	T	A	3: 76,229,574 (GRCm39)	I125N	probably damaging	Het
Gcsam	A	C	16: 45,440,226 (GRCm39)	I90L	probably benign	Het
Glrx	T	A	13: 75,995,341 (GRCm39)	I87N	probably benign	Het
Hivep1	T	A	13: 42,313,593 (GRCm39)	N1944K	probably benign	Het
Lrp2	T	C	2: 69,281,632 (GRCm39)	D3913G	probably damaging	Het
Mbip	A	G	12: 56,382,647 (GRCm39)	I273T	probably damaging	Het
Mis18bp1	A	T	12: 65,201,550 (GRCm39)	S384T	probably damaging	Het
Nlrp4e	T	G	7: 23,020,602 (GRCm39)	I363S	probably benign	Het
Nrg3	CCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGC	14: 39,194,654 (GRCm39)		probably benign	Het
Pcdha11	C	A	18: 37,139,818 (GRCm39)	D482E	probably damaging	Het
Plppr3	T	C	10: 79,702,286 (GRCm39)	Y262C	probably damaging	Het
Ppip5k2	T	C	1: 97,678,366 (GRCm39)	K284E	probably damaging	Het
Rabggta	T	C	14: 55,958,289 (GRCm39)	N124S	probably benign	Het
Rbm46	C	A	3: 82,771,465 (GRCm39)	M383I	probably benign	Het
Rfx1	G	A	8: 84,814,706 (GRCm39)		probably null	Het
Sema3d	T	C	5: 12,615,975 (GRCm39)	V493A	possibly damaging	Het
Sema3d	T	C	5: 12,620,954 (GRCm39)	V520A	possibly damaging	Het
Sis	C	G	3: 72,817,748 (GRCm39)	W1488C	probably damaging	Het
Slc6a20a	A	G	9: 123,469,753 (GRCm39)	F411S	probably damaging	Het
Srcap	T	A	7: 127,127,651 (GRCm39)	N405K	probably damaging	Het
Thnsl1	C	T	2: 21,218,223 (GRCm39)	P138L	probably damaging	Het
Trim27	T	A	13: 21,376,719 (GRCm39)	I489N	probably damaging	Het
Triobp	G	A	15: 78,852,332 (GRCm39)	V829I	possibly damaging	Het
Unc119	A	G	11: 78,239,396 (GRCm39)	D217G	probably damaging	Het
Ushbp1	T	C	8: 71,843,623 (GRCm39)	T272A	possibly damaging	Het
Zfpm2	A	T	15: 40,965,933 (GRCm39)	N806I	probably benign	Het
Znrf3	T	C	11: 5,236,218 (GRCm39)	E164G	probably damaging	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
R4066:Ltb4r1	UTSW	14	56,004,952 (GRCm39)	missense	probably damaging	1.00
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
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'- GTCAAGAATCCTTTGGCTTTCC -3'
(R):5'- TCGGTCCAGACTCATGATGG -3'

Sequencing Primer
(F):5'- ATGGGTGTGTCCACTTTCAC -3'
(R):5'- CGGTCCAGACTCATGATGGTTATAAG -3'

Posted On

2016-10-26