Mutagenetix > Incidental Mutation

Incidental Mutation 'R2124:Ltbr'

229656

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

040127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2124 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

125283534-125290848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125286440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 249 (S249P)

Ref Sequence

ENSEMBL: ENSMUSP00000032489 (fasta)

Gene Model

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

AlphaFold

P50284

Predicted Effect

probably benign
Transcript: ENSMUST00000032489
AA Change: S249P

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032489
Gene: ENSMUSG00000030339
AA Change: S249P

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

0.0731

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (80/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adgrg6	T	C	10: 14,342,930 (GRCm39)	D339G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap3	A	C	18: 38,106,403 (GRCm39)	L1480R	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Aspg	G	A	12: 112,087,608 (GRCm39)	V8I	probably benign	Het
Aven	T	A	2: 112,455,541 (GRCm39)	W26R	probably damaging	Het
Car4	T	A	11: 84,854,911 (GRCm39)		probably benign	Het
Cd163	C	T	6: 124,295,815 (GRCm39)	R720C	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cdh3	A	T	8: 107,279,520 (GRCm39)	H712L	probably damaging	Het
Cdr2	T	C	7: 120,581,250 (GRCm39)	E9G	probably damaging	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Chrnb2	T	C	3: 89,676,648 (GRCm39)		probably benign	Het
Col4a2	C	A	8: 11,466,070 (GRCm39)	P443Q	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Ddias	T	C	7: 92,507,464 (GRCm39)	Q817R	probably benign	Het
Ddx6	C	T	9: 44,535,816 (GRCm39)	Q182*	probably null	Het
Dhrs7	A	G	12: 72,699,951 (GRCm39)	I227T	probably damaging	Het
Dhx8	A	T	11: 101,653,071 (GRCm39)	M970L	probably damaging	Het
Dnah7a	A	T	1: 53,536,101 (GRCm39)	D2647E	possibly damaging	Het
Dstyk	G	A	1: 132,380,857 (GRCm39)	G451R	possibly damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Efl1	C	T	7: 82,342,121 (GRCm39)	R510C	probably damaging	Het
Eif4g3	A	G	4: 137,912,053 (GRCm39)	E1409G	probably damaging	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fcgbp	T	C	7: 27,791,444 (GRCm39)	Y902H	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gbp9	T	A	5: 105,242,409 (GRCm39)	D110V	probably damaging	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Gm10542	T	A	18: 44,334,355 (GRCm39)	W9R	probably null	Het
Gpaa1	A	G	15: 76,217,552 (GRCm39)	Y330C	probably damaging	Het
Hectd4	T	C	5: 121,456,702 (GRCm39)	L689P	probably damaging	Het
Hoxd3	C	A	2: 74,574,578 (GRCm39)	P75T	possibly damaging	Het
Ikbkb	A	G	8: 23,156,036 (GRCm39)	L570P	probably damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Kidins220	G	A	12: 25,091,302 (GRCm39)		probably null	Het
Kif1b	T	C	4: 149,306,753 (GRCm39)	D869G	probably benign	Het
Loxl2	T	C	14: 69,929,859 (GRCm39)	Y746H	probably benign	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Msantd2	C	T	9: 37,434,227 (GRCm39)	R357W	probably damaging	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Or7e173	T	G	9: 19,938,797 (GRCm39)	I146L	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,537,297 (GRCm39)	V1716A	probably benign	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Rims1	T	A	1: 22,474,732 (GRCm39)	R200*	probably null	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Sall3	C	T	18: 81,015,012 (GRCm39)	G972D	probably benign	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sdk1	C	A	5: 142,170,943 (GRCm39)	D1935E	possibly damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Syt16	T	A	12: 74,285,009 (GRCm39)	S401T	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tbcd	A	G	11: 121,494,146 (GRCm39)	Y983C	probably damaging	Het
Tenm3	A	G	8: 48,870,041 (GRCm39)		probably null	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Top2a	T	C	11: 98,895,054 (GRCm39)	I849V	probably benign	Het
Ttn	A	G	2: 76,624,792 (GRCm39)	V13516A	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vmn2r84	A	C	10: 130,227,100 (GRCm39)	M246R	probably damaging	Het
Vps13b	T	A	15: 35,646,226 (GRCm39)	N1443K	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp616	A	G	11: 73,973,869 (GRCm39)		probably null	Het
Zmym1	T	C	4: 126,943,363 (GRCm39)	T244A	probably benign	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
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
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

PCR Primer
(F):5'- AACTTCTATCCTGACACCATGTG -3'
(R):5'- AAGACCAGCTCAGCCCTTTG -3'

Sequencing Primer
(F):5'- TGACACCATGTGGGGCTG -3'
(R):5'- TTTGTCCCCAGTCCAAGGG -3'

Posted On

2014-09-17