Mutagenetix > Incidental Mutation

Incidental Mutation 'R5501:Ltb4r1'

430632

Institutional Source

Beutler Lab

Gene Symbol

Ltb4r1

Ensembl Gene

ENSMUSG00000046908

Gene Name

leukotriene B4 receptor 1

Synonyms

mBLTR, BLT1, BLTR

MMRRC Submission

043062-MU

Accession Numbers

Essential gene?

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

Stock #

R5501 (G1)

Quality Score

115

Status

Not validated

Chromosome

Chromosomal Location

56003419-56005951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56005539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 281 (N281D)

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: N281D

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

SMART Domains

Protein: ENSMUSP00000051368
Gene: ENSMUSG00000046908
AA Change: N281D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228933

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.3%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	C	8: 44,022,941 (GRCm39)	L183*	probably null	Het
Alox12e	G	T	11: 70,207,055 (GRCm39)	Q584K	probably benign	Het
Atp1a4	A	G	1: 172,074,399 (GRCm39)	S285P	probably damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Col25a1	A	G	3: 130,389,312 (GRCm39)	T632A	probably benign	Het
Coro6	T	C	11: 77,358,622 (GRCm39)	F227S	probably damaging	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dop1a	A	G	9: 86,389,783 (GRCm39)	D569G	probably benign	Het
Dync1li2	A	G	8: 105,167,104 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,064,800 (GRCm39)	V508A	probably damaging	Het
Edem1	T	C	6: 108,820,061 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,488,471 (GRCm39)	D452G	probably benign	Het
Espl1	A	G	15: 102,225,565 (GRCm39)	R1539G	possibly damaging	Het
Fat4	A	G	3: 38,941,364 (GRCm39)	S86G	probably benign	Het
Hpgd	A	T	8: 56,751,391 (GRCm39)	D73V	probably benign	Het
Map7	T	C	10: 20,151,948 (GRCm39)	S638P	unknown	Het
Mical1	G	A	10: 41,362,075 (GRCm39)	A934T	probably benign	Het
Micu3	C	A	8: 40,807,341 (GRCm39)		probably null	Het
Mmp24	T	A	2: 155,640,056 (GRCm39)	Y129N	probably damaging	Het
Mras	A	T	9: 99,293,599 (GRCm39)	Y14N	probably damaging	Het
Msmo1	A	T	8: 65,175,523 (GRCm39)	I169N	probably damaging	Het
Mtrr	G	T	13: 68,727,766 (GRCm39)	T60K	probably damaging	Het
Or4c113	A	T	2: 88,885,230 (GRCm39)	L180*	probably null	Het
Or5p6	G	T	7: 107,631,360 (GRCm39)	Y63*	probably null	Het
Or7g30	T	A	9: 19,352,290 (GRCm39)	I27N	possibly damaging	Het
Pam	A	T	1: 97,768,090 (GRCm39)	C8*	probably null	Het
Phrf1	T	G	7: 140,839,834 (GRCm39)	S1169A	possibly damaging	Het
Pkd1l2	T	C	8: 117,792,569 (GRCm39)	T408A	probably damaging	Het
Plch1	G	T	3: 63,615,162 (GRCm39)	Q778K	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,417 (GRCm39)	V499A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ryr3	C	A	2: 112,492,849 (GRCm39)	S3736I	possibly damaging	Het
Serpinb13	T	C	1: 106,909,915 (GRCm39)	F11L	possibly damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Smcp	A	G	3: 92,491,731 (GRCm39)	C39R	unknown	Het
Sox9	T	A	11: 112,674,685 (GRCm39)	L161Q	probably damaging	Het
Tanc2	T	C	11: 105,805,811 (GRCm39)		probably null	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Tmem131l	G	T	3: 83,833,435 (GRCm39)	N809K	probably damaging	Het
Tyk2	T	C	9: 21,032,908 (GRCm39)	Y285C	probably damaging	Het
Usp15	T	A	10: 123,011,804 (GRCm39)	N98Y	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
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'- GTGGTGCTCATTATCCTGGC -3'
(R):5'- AGCCTACTGCAGTTCACTTCG -3'

Sequencing Primer
(F):5'- GTGCTCATTATCCTGGCCTTCG -3'
(R):5'- TGCAGTTCACTTCGAAGACTCAGG -3'

Posted On

2016-10-05