Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:Ltbr'

66007

Institutional Source

Beutler Lab

Gene Symbol

Ltbr

Ensembl Gene

ENSMUSG00000030339

Gene Name

lymphotoxin B receptor

Synonyms

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

MMRRC Submission

038475-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0234 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

125283534-125290848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125289836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 119 (D119E)

Ref Sequence

ENSEMBL: ENSMUSP00000032489 (fasta)

Gene Model

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

AlphaFold

P50284

Predicted Effect

probably benign
Transcript: ENSMUST00000032489
AA Change: D119E

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032489
Gene: ENSMUSG00000030339
AA Change: D119E

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.1%
20x: 83.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,941 (GRCm39)	R197G	possibly damaging	Het
Acacb	A	T	5: 114,347,878 (GRCm39)	H983L	probably damaging	Het
Adal	T	A	2: 120,978,798 (GRCm39)	D139E	probably benign	Het
Adam6b	G	A	12: 113,454,230 (GRCm39)	R349H	probably damaging	Het
Agap1	A	G	1: 89,598,934 (GRCm39)	K331E	probably damaging	Het
B3gat1	A	G	9: 26,667,377 (GRCm39)	E203G	probably damaging	Het
Bsn	T	C	9: 107,993,595 (GRCm39)	E719G	possibly damaging	Het
Cap2	G	C	13: 46,791,498 (GRCm39)		probably null	Het
Ccni	A	G	5: 93,350,186 (GRCm39)	V31A	probably benign	Het
Cdcp3	T	A	7: 130,796,032 (GRCm39)		probably null	Het
Clns1a	T	A	7: 97,363,239 (GRCm39)	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Dsp	A	G	13: 38,371,869 (GRCm39)	N940S	probably benign	Het
Erbb2	T	C	11: 98,327,265 (GRCm39)	V1181A	probably benign	Het
Exoc4	T	C	6: 33,839,022 (GRCm39)	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,305,384 (GRCm39)	V330A	possibly damaging	Het
Fbf1	A	C	11: 116,045,860 (GRCm39)	F245V	probably damaging	Het
Fut10	T	A	8: 31,726,225 (GRCm39)	F327I	probably damaging	Het
Galnt1	C	T	18: 24,387,690 (GRCm39)	P144S	probably damaging	Het
Garin4	T	C	1: 190,895,105 (GRCm39)	S513G	probably benign	Het
Ghrhr	A	T	6: 55,356,171 (GRCm39)	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331 (GRCm39)	C1864S	probably damaging	Het
H1f2	T	C	13: 23,923,106 (GRCm39)	I92T	probably benign	Het
Hps1	T	C	19: 42,750,992 (GRCm39)	E336G	probably damaging	Het
Irgc	C	A	7: 24,132,753 (GRCm39)	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,625,168 (GRCm39)	R590*	probably null	Het
Katnip	T	C	7: 125,394,557 (GRCm39)	V211A	probably benign	Het
Lmln	T	C	16: 32,886,694 (GRCm39)	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,065,042 (GRCm39)	Q179R	probably damaging	Het
Mrc1	A	G	2: 14,284,705 (GRCm39)	T565A	possibly damaging	Het
Muc6	A	C	7: 141,235,939 (GRCm39)	N473K	possibly damaging	Het
Myocd	A	T	11: 65,078,066 (GRCm39)	D448E	probably benign	Het
Neil2	T	A	14: 63,420,975 (GRCm39)	I239F	probably damaging	Het
Npnt	A	G	3: 132,620,175 (GRCm39)	F123S	possibly damaging	Het
Or2g25	T	A	17: 37,970,997 (GRCm39)	I76F	probably damaging	Het
Or4f15	T	C	2: 111,813,645 (GRCm39)	Y258C	probably damaging	Het
Or52x1	C	A	7: 104,852,821 (GRCm39)	C243F	probably damaging	Het
Or56a5	T	C	7: 104,793,281 (GRCm39)	D73G	probably damaging	Het
Or5d37	T	A	2: 87,923,366 (GRCm39)	R305*	probably null	Het
Or8d1b	A	C	9: 38,887,547 (GRCm39)		probably null	Het
Or9i2	C	T	19: 13,815,902 (GRCm39)	V212M	possibly damaging	Het
Pcnx3	T	C	19: 5,722,646 (GRCm39)	T941A	probably benign	Het
Pitrm1	C	A	13: 6,625,115 (GRCm39)	Y864*	probably null	Het
Plcb4	T	C	2: 135,823,995 (GRCm39)	I844T	probably benign	Het
Ppp1r3b	T	A	8: 35,851,655 (GRCm39)	F165I	probably damaging	Het
Prr5	T	A	15: 84,587,322 (GRCm39)	F357L	probably damaging	Het
Rbm15b	T	C	9: 106,762,563 (GRCm39)	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,677,858 (GRCm39)	E602V	probably damaging	Het
Rimklb	T	C	6: 122,433,292 (GRCm39)	N343S	probably benign	Het
Rrp12	A	G	19: 41,860,199 (GRCm39)	L1008P	probably damaging	Het
Sec63	C	T	10: 42,674,794 (GRCm39)	R226C	probably damaging	Het
Sirpa	T	C	2: 129,457,388 (GRCm39)	V154A	probably damaging	Het
Slc22a23	G	A	13: 34,367,244 (GRCm39)	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,904,156 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a5	A	T	8: 71,342,277 (GRCm39)	M258K	probably damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,505,711 (GRCm39)	D460G	possibly damaging	Het
Syn3	T	A	10: 86,284,750 (GRCm39)	I117F	possibly damaging	Het
Tead4	C	T	6: 128,220,365 (GRCm39)	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,286,184 (GRCm39)	N546K	probably benign	Het
Tnn	T	A	1: 159,916,036 (GRCm39)	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Trf	T	C	9: 103,104,078 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,968,737 (GRCm39)	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Wipf3	T	G	6: 54,473,486 (GRCm39)	L458R	probably damaging	Het
Zfp236	T	C	18: 82,648,119 (GRCm39)	K966R	probably damaging	Het
Zfp27	T	A	7: 29,593,532 (GRCm39)	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,370,768 (GRCm39)	H496R	probably damaging	Het
Zfp467	A	T	6: 48,415,689 (GRCm39)	V321E	probably damaging	Het

Other mutations in Ltbr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03349:Ltbr	APN	6	125,289,329 (GRCm39)	missense	probably damaging	0.96
Armitage	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
bonsai	UTSW	6	125,289,733 (GRCm39)	missense	probably damaging	1.00
kama	UTSW	6	125,290,351 (GRCm39)	critical splice donor site	probably null
marine_blue	UTSW	6	125,289,771 (GRCm39)	missense	probably damaging	0.98
moksha	UTSW	6	125,285,031 (GRCm39)	missense	probably benign	0.00
Questionable	UTSW	6	125,290,338 (GRCm39)	splice site	probably benign
R0090:Ltbr	UTSW	6	125,286,412 (GRCm39)	splice site	probably benign
R0234:Ltbr	UTSW	6	125,289,836 (GRCm39)	missense	probably benign	0.16
R0553:Ltbr	UTSW	6	125,290,351 (GRCm39)	critical splice donor site	probably null
R0686:Ltbr	UTSW	6	125,285,024 (GRCm39)	missense	possibly damaging	0.88
R0879:Ltbr	UTSW	6	125,290,338 (GRCm39)	splice site	probably benign
R1086:Ltbr	UTSW	6	125,289,703 (GRCm39)	splice site	probably benign
R2118:Ltbr	UTSW	6	125,286,440 (GRCm39)	missense	probably benign	0.34
R2120:Ltbr	UTSW	6	125,286,440 (GRCm39)	missense	probably benign	0.34
R2122:Ltbr	UTSW	6	125,286,440 (GRCm39)	missense	probably benign	0.34
R2124:Ltbr	UTSW	6	125,286,440 (GRCm39)	missense	probably benign	0.34
R2199:Ltbr	UTSW	6	125,289,024 (GRCm39)	missense	probably benign	0.25
R4931:Ltbr	UTSW	6	125,284,437 (GRCm39)	splice site	probably null
R5051:Ltbr	UTSW	6	125,289,733 (GRCm39)	missense	probably damaging	1.00
R5174:Ltbr	UTSW	6	125,286,500 (GRCm39)	missense	probably benign	0.00
R5268:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5269:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5357:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5358:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5360:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5361:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5363:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5434:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5436:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5441:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5442:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5533:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5534:Ltbr	UTSW	6	125,289,757 (GRCm39)	missense	probably damaging	0.97
R5859:Ltbr	UTSW	6	125,289,771 (GRCm39)	missense	probably damaging	0.98
R6217:Ltbr	UTSW	6	125,284,417 (GRCm39)	missense	probably damaging	1.00
R6702:Ltbr	UTSW	6	125,285,031 (GRCm39)	missense	probably benign	0.00
R7101:Ltbr	UTSW	6	125,289,763 (GRCm39)	missense	probably benign	0.00
R7584:Ltbr	UTSW	6	125,284,204 (GRCm39)	missense	probably benign	0.09
R7587:Ltbr	UTSW	6	125,289,315 (GRCm39)	missense	probably benign
R8798:Ltbr	UTSW	6	125,284,258 (GRCm39)	missense	probably benign	0.01
R9720:Ltbr	UTSW	6	125,284,348 (GRCm39)	missense	probably damaging	1.00
R9721:Ltbr	UTSW	6	125,284,348 (GRCm39)	missense	probably damaging	1.00
R9723:Ltbr	UTSW	6	125,284,348 (GRCm39)	missense	probably damaging	1.00
R9746:Ltbr	UTSW	6	125,290,064 (GRCm39)	missense	probably benign
R9750:Ltbr	UTSW	6	125,284,348 (GRCm39)	missense	probably damaging	1.00
R9753:Ltbr	UTSW	6	125,284,348 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-19