Mutagenetix > Incidental Mutation

Incidental Mutation 'R8796:Tnfrsf1b'

671248

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

MMRRC Submission

068637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R8796 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144940033-144973440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144946485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 309 (S309P)

Ref Sequence

ENSEMBL: ENSMUSP00000030336 (fasta)

Gene Model

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

AlphaFold

P25119

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030336
AA Change: S309P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030336
Gene: ENSMUSG00000028599
AA Change: S309P

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,629,482 (GRCm39)	T182S	possibly damaging	Het
Abca12	A	C	1: 71,297,248 (GRCm39)		probably benign	Het
Aco1	T	A	4: 40,179,037 (GRCm39)	D345E	probably benign	Het
Acp6	T	C	3: 97,066,509 (GRCm39)	V9A	probably benign	Het
Akap1	A	C	11: 88,730,498 (GRCm39)	I597S	probably damaging	Het
B4galnt4	C	T	7: 140,647,488 (GRCm39)	T385I	probably damaging	Het
Bbof1	A	T	12: 84,460,068 (GRCm39)	T112S	possibly damaging	Het
Chd7	C	A	4: 8,838,691 (GRCm39)	H1297N	probably damaging	Het
Cldn15	T	C	5: 137,003,351 (GRCm39)	F147L	probably damaging	Het
Coq7	C	T	7: 118,126,640 (GRCm39)	E143K	probably damaging	Het
Ctnnb1	A	G	9: 120,784,498 (GRCm39)	N430S	probably damaging	Het
Cxcl12	G	T	6: 117,155,553 (GRCm39)	K92N	possibly damaging	Het
Dscaml1	T	C	9: 45,359,026 (GRCm39)	F95S	probably damaging	Het
Epha5	T	A	5: 84,255,850 (GRCm39)	H480L	probably damaging	Het
Fbxo30	G	A	10: 11,165,320 (GRCm39)	C14Y	probably damaging	Het
Gja5	A	G	3: 96,958,419 (GRCm39)	I159V	possibly damaging	Het
Herc2	A	T	7: 55,785,123 (GRCm39)	Q1487L	probably benign	Het
Hipk2	T	A	6: 38,675,158 (GRCm39)	Q1168L	probably damaging	Het
Kcnk12	T	A	17: 88,054,020 (GRCm39)	Y214F	probably damaging	Het
Kif5b	T	C	18: 6,226,965 (GRCm39)	K98E	probably benign	Het
Lama1	T	A	17: 68,117,146 (GRCm39)	N2480K		Het
Lrp1b	A	G	2: 40,793,426 (GRCm39)	C2610R		Het
Mast4	T	C	13: 102,919,899 (GRCm39)	Y536C	probably benign	Het
Ntrk1	A	G	3: 87,690,422 (GRCm39)	S407P	probably benign	Het
Ogdh	T	A	11: 6,297,129 (GRCm39)	M527K	possibly damaging	Het
Or51b6	T	C	7: 103,556,201 (GRCm39)	V182A		Het
Or5m9b	G	A	2: 85,905,518 (GRCm39)	V145M	possibly damaging	Het
Plxdc1	A	G	11: 97,847,407 (GRCm39)	S89P	probably benign	Het
Prdm2	A	G	4: 142,860,017 (GRCm39)	I1091T	probably benign	Het
Psg16	C	A	7: 16,827,814 (GRCm39)	H166N	possibly damaging	Het
Qrfpr	T	A	3: 36,234,345 (GRCm39)	Y332F	probably damaging	Het
Rab31	A	T	17: 66,079,529 (GRCm39)	I4K	possibly damaging	Het
Ranbp10	C	A	8: 106,499,665 (GRCm39)		probably benign	Het
Rasgrf2	T	C	13: 92,038,685 (GRCm39)	S453G		Het
Rxfp2	C	T	5: 149,942,262 (GRCm39)		probably benign	Het
S100a8	A	G	3: 90,576,865 (GRCm39)	E6G	probably damaging	Het
Sart1	T	C	19: 5,438,376 (GRCm39)	K94E	probably damaging	Het
Sema4d	A	T	13: 51,865,546 (GRCm39)	F297I	probably damaging	Het
Sgk2	A	G	2: 162,848,723 (GRCm39)	K287E	probably damaging	Het
Sgsm1	T	A	5: 113,411,123 (GRCm39)	T868S	probably benign	Het
Skint6	G	T	4: 112,661,891 (GRCm39)	T1231K	possibly damaging	Het
Slc35b3	C	T	13: 39,121,722 (GRCm39)		probably benign	Het
Slf1	A	T	13: 77,214,784 (GRCm39)	M634K	probably benign	Het
Slit2	A	G	5: 48,460,190 (GRCm39)	D1424G	probably benign	Het
Snx21	G	A	2: 164,628,749 (GRCm39)	V131I	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tas1r3	A	G	4: 155,945,848 (GRCm39)	V516A	probably benign	Het
Tas2r120	A	T	6: 132,634,081 (GRCm39)	R54S	probably damaging	Het
Tmem109	A	T	19: 10,849,995 (GRCm39)	L99Q	probably damaging	Het
Trav11	C	T	14: 53,757,227 (GRCm39)	A85V	probably benign	Het
Trp53	G	A	11: 69,480,434 (GRCm39)	R267H	possibly damaging	Het
Ttn	G	A	2: 76,653,314 (GRCm39)	R12631C	possibly damaging	Het
Vmn2r10	T	A	5: 109,143,917 (GRCm39)	T678S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,933 (GRCm39)	M209T	possibly damaging	Het
Vmn2r24	A	T	6: 123,757,500 (GRCm39)	M123L	probably benign	Het
Wdr41	T	G	13: 95,151,575 (GRCm39)	L245R	possibly damaging	Het
Wwp2	G	T	8: 108,283,189 (GRCm39)	G814W	probably null	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
R6163:Tnfrsf1b	UTSW	4	144,946,477 (GRCm39)	missense	probably benign	0.24
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
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'- CACCTGAAATCCTGGAGCTG -3'
(R):5'- GGTGACACATCTCCCTATGC -3'

Sequencing Primer
(F):5'- TGAAATCCTGGAGCTGGCACG -3'
(R):5'- ATGCTCCAAAAAGTCACTTTTTCC -3'

Posted On

2021-04-30