Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Ltbr'

730786

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 #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125306571-125313885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125307385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 365 (R365W)

Ref Sequence

ENSEMBL: ENSMUSP00000032489 (fasta)

Gene Model

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

AlphaFold

P50284

Predicted Effect

probably damaging
Transcript: ENSMUST00000032489
AA Change: R365W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032489
Gene: ENSMUSG00000030339
AA Change: R365W

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,419,283	Y120N	probably benign	Het
2410089E03Rik	A	G	15: 8,225,409	T27A	unknown	Het
4931428F04Rik	A	T	8: 105,283,188	D376E	probably benign	Het
AI314180	A	T	4: 58,850,938	S412T	probably benign	Het
Alox8	T	A	11: 69,197,085	H131L	probably benign	Het
Atp13a1	A	G	8: 69,799,437	E588G	probably damaging	Het
AU040320	G	A	4: 126,839,648	V654M	probably damaging	Het
Bicra	A	G	7: 15,979,176	L982P	probably damaging	Het
Cdh11	A	T	8: 102,679,625	V72E	probably damaging	Het
Cfap65	T	C	1: 74,919,342	T869A	probably benign	Het
Ddx19a	A	G	8: 110,978,475	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,815,078	V219E	probably damaging	Het
Dhx33	A	G	11: 71,001,598	V115A	probably damaging	Het
Dst	A	G	1: 34,192,785	D3153G	probably benign	Het
Eif5b	T	C	1: 38,037,659		probably null	Het
Ep300	A	G	15: 81,608,315	N284S	unknown	Het
Fam83a	A	G	15: 57,986,117	N19S	probably benign	Het
Fgd5	A	T	6: 91,988,297	T504S	probably benign	Het
Flt4	G	A	11: 49,644,433		probably null	Het
Ggta1	G	T	2: 35,413,406	D91E	probably benign	Het
Gls	A	G	1: 52,212,268	V310A	probably damaging	Het
Gm13178	A	T	4: 144,703,372	V349D	possibly damaging	Het
Gm5414	A	T	15: 101,628,147	C14*	probably null	Het
Gm906	T	C	13: 50,246,652	Y546C	possibly damaging	Het
Gm9887	C	G	12: 69,371,855	A202P	unknown	Het
Ifi214	T	C	1: 173,527,913	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,839,689	R293G	probably benign	Het
Itpr1	A	T	6: 108,406,102	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,293,055	S225P	probably damaging	Het
Kif21a	A	T	15: 90,971,127	I678N	probably damaging	Het
Klf11	T	A	12: 24,660,241	D429E	probably damaging	Het
Kntc1	A	G	5: 123,801,885	T1581A	probably benign	Het
Lama2	T	C	10: 27,467,342	N45D	possibly damaging	Het
Lrrk1	T	C	7: 66,274,875	I1319V	probably damaging	Het
Malrd1	C	T	2: 15,696,827	T751I	unknown	Het
Mgat5b	T	C	11: 116,966,769	L363P	probably damaging	Het
Mphosph9	A	T	5: 124,298,675	S535R	possibly damaging	Het
Nckap5	C	T	1: 126,027,280	D512N	probably damaging	Het
Ngef	T	A	1: 87,479,135	D637V	probably damaging	Het
Nup93	T	C	8: 94,303,685	Y391H	probably damaging	Het
Olfr1215	T	C	2: 89,001,716	T191A		Het
Olfr1406	C	A	1: 173,184,348	V29F	probably benign	Het
Olfr1469	A	T	19: 13,410,970	T134S	probably benign	Het
Pcdhb4	C	A	18: 37,309,852	D738E	possibly damaging	Het
Pfpl	G	C	19: 12,428,933	E183Q	probably damaging	Het
Phactr3	G	A	2: 178,256,250	E86K	probably damaging	Het
Psd	C	T	19: 46,323,189	D351N	probably benign	Het
Pzp	A	G	6: 128,495,191		probably null	Het
Rerg	T	A	6: 137,056,417	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,234,978	Y8*	probably null	Het
Spn	A	G	7: 127,136,265	S357P	probably benign	Het
Tek	T	G	4: 94,804,302	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,889,398	H531L	probably benign	Het
Trpm6	A	G	19: 18,829,972	M1027V	probably benign	Het
Tsc2	G	A	17: 24,599,642	R1408*	probably null	Het
Unc13b	A	G	4: 43,101,869	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,179,026	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,549,020	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,434,845	Q1035K	unknown	Het
Zcchc11	T	A	4: 108,555,581	M1493K	probably benign	Het
Zfp14	A	T	7: 30,039,184	S125R	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
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
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'- ATAGGTTCCTTGGCCCTGTC -3'
(R):5'- AGAGCTATCCTGCACTACCCAG -3'

Sequencing Primer
(F):5'- CAGAGGTCTTGGCATCCTAG -3'
(R):5'- CTAGGCCATGTGAGACTGTGACTC -3'

Posted On

2022-10-06