Mutagenetix > Incidental Mutation

Incidental Mutation 'R6163:Tnfrsf1b'

489956

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf1b

Ensembl Gene

ENSMUSG00000028599

Gene Name

tumor necrosis factor receptor superfamily, member 1b

Synonyms

CD120b, TNFBR, TNFR80, p75, TNFalpha-R2, TNFRII, p75 TNFR, TNF-R2, TNF-R-II, TNF-alphaR2, Tnfr2, TNF-R75

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R6163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144940033-144973440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144946477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 311 (D311E)

Ref Sequence

ENSEMBL: ENSMUSP00000030336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030336]

AlphaFold

P25119

Predicted Effect

probably benign
Transcript: ENSMUST00000030336
AA Change: D311E

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: D311E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
TNFR	40	76	2.15e-9	SMART
TNFR	79	119	2.19e-10	SMART
TNFR	121	163	7.27e-7	SMART
TNFR	166	202	2.22e-2	SMART
transmembrane domain	263	285	N/A	INTRINSIC
low complexity region	324	338	N/A	INTRINSIC
low complexity region	363	378	N/A	INTRINSIC
low complexity region	390	405	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,982,098 (GRCm39)	Q228*	probably null	Het
Asic5	A	G	3: 81,913,833 (GRCm39)	N169S	probably damaging	Het
Atad2b	T	A	12: 5,004,593 (GRCm39)	L374H	probably benign	Het
Birc2	G	A	9: 7,819,036 (GRCm39)	T544I	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Cc2d2b	C	T	19: 40,744,950 (GRCm39)	T23I	probably benign	Het
Ccdc137	G	T	11: 120,350,927 (GRCm39)	R108L	possibly damaging	Het
Cenpe	T	C	3: 134,974,764 (GRCm39)	I2308T	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cpt1b	T	C	15: 89,308,620 (GRCm39)	T103A	probably benign	Het
Cpvl	C	A	6: 53,850,503 (GRCm39)	V445F	probably damaging	Het
Cttnbp2	A	G	6: 18,434,950 (GRCm39)	S303P	possibly damaging	Het
Cyp17a1	T	A	19: 46,657,761 (GRCm39)	I264F	possibly damaging	Het
Cyp51	T	A	5: 4,150,199 (GRCm39)	I175F	probably damaging	Het
Dennd4c	C	T	4: 86,723,828 (GRCm39)	P695S	possibly damaging	Het
Dlgap2	A	T	8: 14,896,641 (GRCm39)	Q1039L	probably damaging	Het
Dnah14	T	C	1: 181,493,926 (GRCm39)	L1694P	probably benign	Het
Dnah2	G	A	11: 69,411,729 (GRCm39)	Q298*	probably null	Het
Dsg2	G	T	18: 20,731,726 (GRCm39)		probably null	Het
Esr2	A	C	12: 76,168,643 (GRCm39)	V522G	probably damaging	Het
Fmo9	T	A	1: 166,494,962 (GRCm39)	H262L	probably benign	Het
Glb1l	T	A	1: 75,178,051 (GRCm39)	M373L	probably benign	Het
Gls	A	G	1: 52,254,735 (GRCm39)	S247P	probably benign	Het
Gm37240	T	A	3: 84,423,092 (GRCm39)	E213D	probably damaging	Het
Gmip	T	A	8: 70,270,022 (GRCm39)	V675E	probably benign	Het
Grb10	C	A	11: 11,893,932 (GRCm39)	E330*	probably null	Het
H2ac13	A	T	13: 21,900,859 (GRCm39)	N90Y	probably damaging	Het
Hivep2	A	G	10: 14,005,736 (GRCm39)	K778R	probably damaging	Het
Ighv1-26	T	C	12: 114,752,416 (GRCm39)	S4G	probably benign	Het
Igkv3-3	T	A	6: 70,664,257 (GRCm39)	V33E	possibly damaging	Het
Itga2	C	A	13: 115,002,726 (GRCm39)	G588V	probably damaging	Het
Itpr1	C	T	6: 108,365,245 (GRCm39)	H58Y	probably damaging	Het
Jmjd1c	T	A	10: 67,083,827 (GRCm39)	D2365E	possibly damaging	Het
Limk1	T	C	5: 134,686,809 (GRCm39)	Y518C	probably damaging	Het
Marchf6	G	C	15: 31,465,497 (GRCm39)	H802Q	probably benign	Het
Mark2	A	G	19: 7,268,126 (GRCm39)	S26P	probably benign	Het
Mdn1	T	A	4: 32,716,040 (GRCm39)	L2074Q	probably damaging	Het
Mrpl37	T	C	4: 106,921,793 (GRCm39)	E174G	possibly damaging	Het
Mtcl1	T	C	17: 66,686,326 (GRCm39)	H860R	probably benign	Het
Neurod1	A	G	2: 79,284,505 (GRCm39)	F293L	probably benign	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Nwd2	C	A	5: 63,963,131 (GRCm39)	A905E	probably benign	Het
Or14a260	A	T	7: 85,985,592 (GRCm39)	I4N	possibly damaging	Het
Or1x6	T	A	11: 50,939,595 (GRCm39)	Y220*	probably null	Het
Or5b12b	A	C	19: 12,861,472 (GRCm39)	T76P	probably damaging	Het
Or7e169	A	G	9: 19,757,024 (GRCm39)	I297T	probably benign	Het
Otop1	C	A	5: 38,445,234 (GRCm39)		probably null	Het
Otp	A	G	13: 95,012,288 (GRCm39)	H4R	probably damaging	Het
P4htm	A	C	9: 108,459,150 (GRCm39)	Y261D	probably damaging	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Plekhg1	A	T	10: 3,914,369 (GRCm39)	R1419W	probably damaging	Het
Pramel20	A	G	4: 143,298,605 (GRCm39)	K183E	probably damaging	Het
Prkd3	C	A	17: 79,273,784 (GRCm39)	D491Y	possibly damaging	Het
Prr11	A	C	11: 86,994,454 (GRCm39)	L64R	possibly damaging	Het
Pygo1	G	T	9: 72,851,980 (GRCm39)	A56S	probably damaging	Het
Rexo5	A	G	7: 119,404,470 (GRCm39)	T189A	probably damaging	Het
Rnf213	A	T	11: 119,349,254 (GRCm39)	H3784L	possibly damaging	Het
Rps6ka5	T	G	12: 100,562,179 (GRCm39)		probably null	Het
Slco2b1	T	A	7: 99,338,106 (GRCm39)	I93F	probably damaging	Het
Slfn8	T	C	11: 82,894,690 (GRCm39)	*408W	probably null	Het
Sptbn1	C	A	11: 30,109,443 (GRCm39)	E51*	probably null	Het
Ssc5d	T	A	7: 4,930,253 (GRCm39)	H111Q	probably damaging	Het
Sult1c2	T	C	17: 54,280,981 (GRCm39)	N41D	probably benign	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Tdo2	T	C	3: 81,882,710 (GRCm39)	E2G	possibly damaging	Het
Tff2	T	C	17: 31,363,152 (GRCm39)	E24G	probably benign	Het
Tjp2	C	A	19: 24,103,068 (GRCm39)		probably null	Het
Usp15	G	T	10: 123,004,210 (GRCm39)	N181K	probably damaging	Het
Vmn1r175	T	G	7: 23,508,591 (GRCm39)	E12A	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,773 (GRCm39)	S302P	probably damaging	Het
Vmn2r58	A	G	7: 41,486,825 (GRCm39)	M690T	probably benign	Het
Wee1	T	A	7: 109,734,858 (GRCm39)	H465Q	probably damaging	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	Het

Other mutations in Tnfrsf1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Tnfrsf1b	APN	4	144,951,986 (GRCm39)	missense	probably damaging	1.00
IGL01716:Tnfrsf1b	APN	4	144,942,493 (GRCm39)	missense	probably damaging	0.97
IGL01974:Tnfrsf1b	APN	4	144,942,421 (GRCm39)	missense	probably damaging	1.00
IGL02631:Tnfrsf1b	APN	4	144,951,398 (GRCm39)	missense	probably damaging	1.00
R0011:Tnfrsf1b	UTSW	4	144,949,536 (GRCm39)	missense	possibly damaging	0.77
R0135:Tnfrsf1b	UTSW	4	144,955,616 (GRCm39)	missense	probably benign	0.15
R0194:Tnfrsf1b	UTSW	4	144,951,382 (GRCm39)	missense	probably benign	0.04
R0761:Tnfrsf1b	UTSW	4	144,942,670 (GRCm39)	missense	possibly damaging	0.95
R1124:Tnfrsf1b	UTSW	4	144,950,926 (GRCm39)	missense	probably benign	0.23
R1696:Tnfrsf1b	UTSW	4	144,954,044 (GRCm39)	missense	probably benign
R3692:Tnfrsf1b	UTSW	4	144,954,092 (GRCm39)	missense	probably benign	0.01
R4248:Tnfrsf1b	UTSW	4	144,942,535 (GRCm39)	missense	probably benign	0.01
R4409:Tnfrsf1b	UTSW	4	144,950,855 (GRCm39)	nonsense	probably null
R4957:Tnfrsf1b	UTSW	4	144,973,328 (GRCm39)	missense	possibly damaging	0.90
R4957:Tnfrsf1b	UTSW	4	144,973,327 (GRCm39)	missense	probably damaging	0.99
R5180:Tnfrsf1b	UTSW	4	144,954,067 (GRCm39)	missense	probably damaging	1.00
R5425:Tnfrsf1b	UTSW	4	144,955,678 (GRCm39)	critical splice acceptor site	probably null
R7055:Tnfrsf1b	UTSW	4	144,951,457 (GRCm39)	missense	probably damaging	1.00
R7891:Tnfrsf1b	UTSW	4	144,955,660 (GRCm39)	missense	probably damaging	1.00
R8796:Tnfrsf1b	UTSW	4	144,946,485 (GRCm39)	missense	possibly damaging	0.95
R8919:Tnfrsf1b	UTSW	4	144,950,150 (GRCm39)	missense	probably damaging	1.00
R9658:Tnfrsf1b	UTSW	4	144,942,424 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAATCCTGGAGCTGGCAC -3'
(R):5'- GGTGACACATCTCCCTATGC -3'

Sequencing Primer
(F):5'- ACGGGCCTCCTGAAACC -3'
(R):5'- CCTTGTGAGGACTGAGATTGAAAACC -3'

Posted On

2017-10-10