Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Ltbr'

422929

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

042941-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5363 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

125306571-125313885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125312794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 146 (R146W)

Ref Sequence

ENSEMBL: ENSMUSP00000032489 (fasta)

Gene Model

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

AlphaFold

P50284

Predicted Effect

probably damaging
Transcript: ENSMUST00000032489
AA Change: R146W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032489
Gene: ENSMUSG00000030339
AA Change: R146W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161891

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	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
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
R7587:Ltbr	UTSW	6	125312352	missense	probably benign
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'- ATACCAGTTCATGTCTTGGCAG -3'
(R):5'- CTGCATGATGGGTACGACTG -3'

Sequencing Primer
(F):5'- GACTGATAGATTCTTTATGGTTCTCC -3'
(R):5'- TACGACTGGGAGGGCCAG -3'

Posted On

2016-08-04