Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Ltbr'

587205

Institutional Source

Beutler Lab

Gene Symbol

Ltbr

Ensembl Gene

ENSMUSG00000030339

Gene Name

lymphotoxin B receptor

Synonyms

TNF-R-III, TNFRrp, TNFCR, TNFR2-RP, LTbetaR, TNF receptor-related protein, LT-beta receptor, LT beta-R, Tnfbr, Tnfrsf3, Ltar

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125306571-125313885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125312352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 165 (T165A)

Ref Sequence

ENSEMBL: ENSMUSP00000032489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032489]

AlphaFold

P50284

Predicted Effect

probably benign
Transcript: ENSMUST00000032489
AA Change: T165A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032489
Gene: ENSMUSG00000030339
AA Change: T165A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
TNFR	43	80	5.73e-5	SMART
TNFR	83	124	3.96e-8	SMART
Blast:TNFR	126	169	3e-7	BLAST
TNFR	172	212	1.95e-7	SMART
transmembrane domain	222	244	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
low complexity region	362	388	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

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 tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygotes for a targeted null mutation lack Peyer's patches, colon-associated lymphoid tissues, and lymph nodes. Mutants also exhibit severely reduced numbers of NK cells and increased susceptibility to Theiler's murine encephalomyelitis virus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,792,087	T131A	probably damaging	Het
Asah1	A	T	8: 41,374,541	V15D	probably benign	Het
Asic1	A	C	15: 99,695,590	Q276P	probably damaging	Het
Atl2	A	T	17: 79,865,067	V158E	probably benign	Het
Atrn	T	A	2: 130,980,114	I909N	probably damaging	Het
BC034090	A	G	1: 155,217,486	V742A	probably damaging	Het
Capzb	T	A	4: 139,262,023	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,941,279	F165S	probably damaging	Het
Cfap44	A	G	16: 44,404,106	E59G	probably benign	Het
Clpsl2	G	A	17: 28,549,541	V10I	probably benign	Het
D630003M21Rik	T	C	2: 158,196,388	Y1046C	probably benign	Het
D630003M21Rik	T	A	2: 158,201,056	S855C	probably damaging	Het
D6Wsu163e	A	G	6: 126,955,896	I361V	probably benign	Het
Dchs2	A	G	3: 83,304,515	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,483,135	K679Q	probably damaging	Het
Dio2	A	G	12: 90,729,560	V218A	probably benign	Het
Fam208b	T	C	13: 3,568,849	K2251E	possibly damaging	Het
Gm3286	A	G	5: 95,521,411	T100A	probably damaging	Het
Gpr107	A	T	2: 31,168,826	K109N	probably benign	Het
Gpr108	C	T	17: 57,236,732	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,704,290	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,566,339	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,797,027		probably null	Het
Lipc	A	G	9: 70,818,924	Y168H	probably damaging	Het
Lipi	C	T	16: 75,550,215	V439M	probably benign	Het
Lpp	A	T	16: 24,762,279		probably null	Het
Lrp1b	T	G	2: 40,730,717	D3583A		Het
Mroh3	A	G	1: 136,190,998	I527T	probably benign	Het
Mylk	A	G	16: 34,922,517	E1133G	probably benign	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Ncbp3	T	C	11: 73,066,765		probably null	Het
Nedd1	G	A	10: 92,698,730	T306M	probably benign	Het
Nexn	T	C	3: 152,247,178	R316G	probably benign	Het
Nox4	A	G	7: 87,317,302	H207R	probably damaging	Het
Nsun6	T	C	2: 15,039,825	Q110R	probably benign	Het
Olfr22-ps1	C	T	11: 73,955,184	Q165*	probably null	Het
Olfr668	C	T	7: 104,925,056	R236H	probably benign	Het
Olfr851	T	A	9: 19,497,522	V258E	probably damaging	Het
Pappa2	T	C	1: 158,851,131	D905G	probably damaging	Het
Pepd	T	C	7: 34,969,540	L195S	probably damaging	Het
Pms1	A	G	1: 53,207,316	S355P	probably benign	Het
Pop1	A	T	15: 34,502,413	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 95,001,940	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Rfc3	A	T	5: 151,651,151	M1K	probably null	Het
Rffl	T	C	11: 82,810,148	D284G	probably damaging	Het
Robo3	T	C	9: 37,429,646	D110G	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Slc1a7	T	A	4: 108,010,486	I457K	possibly damaging	Het
Smco1	A	G	16: 32,273,723	M71V	probably benign	Het
Snrnp200	G	A	2: 127,227,902	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,219	I356F	probably damaging	Het
Stk24	C	T	14: 121,302,287	A166T	probably damaging	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tbce	C	T	13: 14,019,742	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,882,947	L92P	probably damaging	Het
Tnr	T	A	1: 159,886,208	D735E	probably benign	Het
Tram1	T	C	1: 13,579,547	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Unc5b	C	T	10: 60,783,120	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,703,789	T1041M	probably benign	Het

Other mutations in Ltbr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03349:Ltbr	APN	6	125312366	missense	probably damaging	0.96
Armitage	UTSW	6	125312794	missense	probably damaging	0.97
bonsai	UTSW	6	125312770	missense	probably damaging	1.00
kama	UTSW	6	125313388	critical splice donor site	probably null
marine_blue	UTSW	6	125312808	missense	probably damaging	0.98
moksha	UTSW	6	125308068	missense	probably benign	0.00
Questionable	UTSW	6	125313375	splice site	probably benign
R0090:Ltbr	UTSW	6	125309449	splice site	probably benign
R0234:Ltbr	UTSW	6	125312873	missense	probably benign	0.16
R0234:Ltbr	UTSW	6	125312873	missense	probably benign	0.16
R0553:Ltbr	UTSW	6	125313388	critical splice donor site	probably null
R0686:Ltbr	UTSW	6	125308061	missense	possibly damaging	0.88
R0879:Ltbr	UTSW	6	125313375	splice site	probably benign
R1086:Ltbr	UTSW	6	125312740	splice site	probably benign
R2118:Ltbr	UTSW	6	125309477	missense	probably benign	0.34
R2120:Ltbr	UTSW	6	125309477	missense	probably benign	0.34
R2122:Ltbr	UTSW	6	125309477	missense	probably benign	0.34
R2124:Ltbr	UTSW	6	125309477	missense	probably benign	0.34
R2199:Ltbr	UTSW	6	125312061	missense	probably benign	0.25
R4931:Ltbr	UTSW	6	125307474	splice site	probably null
R5051:Ltbr	UTSW	6	125312770	missense	probably damaging	1.00
R5174:Ltbr	UTSW	6	125309537	missense	probably benign	0.00
R5268:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5269:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5357:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5358:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5360:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5361:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5363:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5434:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5436:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5441:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5442:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5533:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5534:Ltbr	UTSW	6	125312794	missense	probably damaging	0.97
R5859:Ltbr	UTSW	6	125312808	missense	probably damaging	0.98
R6217:Ltbr	UTSW	6	125307454	missense	probably damaging	1.00
R6702:Ltbr	UTSW	6	125308068	missense	probably benign	0.00
R7101:Ltbr	UTSW	6	125312800	missense	probably benign	0.00
R7584:Ltbr	UTSW	6	125307241	missense	probably benign	0.09
R8798:Ltbr	UTSW	6	125307295	missense	probably benign	0.01
R9720:Ltbr	UTSW	6	125307385	missense	probably damaging	1.00
R9721:Ltbr	UTSW	6	125307385	missense	probably damaging	1.00
R9723:Ltbr	UTSW	6	125307385	missense	probably damaging	1.00
R9746:Ltbr	UTSW	6	125313101	missense	probably benign
R9750:Ltbr	UTSW	6	125307385	missense	probably damaging	1.00
R9753:Ltbr	UTSW	6	125307385	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACTGTGAGCTTCTCCCTG -3'
(R):5'- TTAGAAGGTAGCTCCCTCCTGTC -3'

Sequencing Primer
(F):5'- TGGCTCCAGGAACACATGGTC -3'
(R):5'- TCAGCCCTGGGGAAGCTTG -3'

Posted On

2019-10-24