Mutagenetix > Incidental Mutation

Incidental Mutation 'R4940:Traf2'

382976

Institutional Source

Beutler Lab

Gene Symbol

Traf2

Ensembl Gene

ENSMUSG00000026942

Gene Name

TNF receptor-associated factor 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4940 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

25407994-25436952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25420300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 183 (E183G)

Ref Sequence

ENSEMBL: ENSMUSP00000109872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028311] [ENSMUST00000114234]

AlphaFold

P39429

Predicted Effect

probably null
Transcript: ENSMUST00000028311
AA Change: E176G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000028311
Gene: ENSMUSG00000026942
AA Change: E176G

Domain	Start	End	E-Value	Type
RING	34	72	3.19e-3	SMART
Pfam:zf-TRAF	178	235	1.9e-22	PFAM
MATH	356	478	3.09e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114234
AA Change: E183G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109872
Gene: ENSMUSG00000026942
AA Change: E183G

Domain	Start	End	E-Value	Type
RING	34	79	3.42e-2	SMART
Pfam:zf-TRAF	185	242	2.4e-23	PFAM
Pfam:TRAF_BIRC3_bd	274	337	1.6e-34	PFAM
MATH	363	485	3.09e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151742

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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 associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Increased lethaltiy is observed with homozygous null mice. Offspring are runted and exhibit atrophic thymii and spleens with reduced numbers of lymphocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,828,782 (GRCm39)	T240A	probably benign	Het
Abca15	T	C	7: 119,931,917 (GRCm39)	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,977,420 (GRCm39)	I641T	possibly damaging	Het
Ankrd11	A	G	8: 123,616,560 (GRCm39)	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,609,604 (GRCm39)	L14F	probably null	Het
Arhgdia	T	C	11: 120,470,061 (GRCm39)	D204G	probably damaging	Het
Armh4	A	T	14: 50,010,939 (GRCm39)	M256K	probably benign	Het
Catsperd	A	T	17: 56,969,736 (GRCm39)	Y610F	possibly damaging	Het
Cblb	T	A	16: 51,853,466 (GRCm39)	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453 (GRCm39)	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508 (GRCm39)	H911R	probably damaging	Het
Cdh23	T	A	10: 60,143,714 (GRCm39)	I2966F	probably damaging	Het
Cfap299	A	G	5: 98,885,495 (GRCm39)	H134R	possibly damaging	Het
Chat	G	A	14: 32,141,062 (GRCm39)	P445L	probably damaging	Het
Chdh	G	T	14: 29,754,809 (GRCm39)	R273L	possibly damaging	Het
Clic3	T	C	2: 25,347,929 (GRCm39)	V72A	probably benign	Het
Cyp2d12	T	A	15: 82,442,251 (GRCm39)	D244E	probably benign	Het
Ddr1	T	A	17: 36,001,022 (GRCm39)	D241V	probably damaging	Het
Dock7	T	A	4: 98,908,314 (GRCm39)	K605N	probably damaging	Het
Dsg2	T	A	18: 20,712,487 (GRCm39)	F164I	probably damaging	Het
Dstyk	T	A	1: 132,380,844 (GRCm39)	N446K	probably damaging	Het
Epb42	A	T	2: 120,864,932 (GRCm39)	L53Q	probably damaging	Het
Extl2	G	C	3: 115,820,841 (GRCm39)	K229N	probably benign	Het
Frmd4b	T	A	6: 97,275,051 (GRCm39)	S617C	probably damaging	Het
Fscb	C	T	12: 64,520,588 (GRCm39)	V293I	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gm4978	A	C	9: 69,358,154 (GRCm39)		probably benign	Het
Gm6729	A	G	10: 86,376,252 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,932 (GRCm39)	N293T	probably benign	Het
Herpud1	T	C	8: 95,117,470 (GRCm39)	I142T	probably benign	Het
Irak2	G	A	6: 113,670,691 (GRCm39)	V536I	probably benign	Het
Kcnu1	A	T	8: 26,387,890 (GRCm39)		probably null	Het
Kdm4a	A	G	4: 118,018,951 (GRCm39)	S422P	probably benign	Het
Lair1	T	A	7: 4,031,948 (GRCm39)	D53V	probably benign	Het
Lhx1	G	T	11: 84,410,735 (GRCm39)	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,388,438 (GRCm39)	T2329I	unknown	Het
Mag	T	C	7: 30,608,625 (GRCm39)	D163G	probably damaging	Het
Magi3	A	G	3: 103,958,708 (GRCm39)	V459A	probably damaging	Het
Med13	A	G	11: 86,178,944 (GRCm39)	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,060,131 (GRCm39)	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,361,095 (GRCm39)	C221R	probably damaging	Het
Mtus1	T	A	8: 41,494,515 (GRCm39)	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nutm2	T	C	13: 50,628,909 (GRCm39)	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,112,602 (GRCm39)	V239A	possibly damaging	Het
Pcnx1	C	T	12: 81,964,567 (GRCm39)	H245Y	possibly damaging	Het
Pgm3	A	G	9: 86,441,529 (GRCm39)	L356S	probably damaging	Het
Pik3r4	C	G	9: 105,546,193 (GRCm39)	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,794,585 (GRCm39)	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625 (GRCm39)	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,161,740 (GRCm39)	T705A	probably benign	Het
Prmt7	T	C	8: 106,963,910 (GRCm39)	V268A	probably benign	Het
Psd	C	T	19: 46,310,856 (GRCm39)	G398R	probably damaging	Het
Pygl	A	G	12: 70,253,155 (GRCm39)	V188A	probably damaging	Het
Rnf13	T	A	3: 57,703,627 (GRCm39)	N110K	probably damaging	Het
Rnf170	C	T	8: 26,615,939 (GRCm39)	Q77*	probably null	Het
Rrp8	A	T	7: 105,383,284 (GRCm39)	Y327*	probably null	Het
Ruvbl2	T	C	7: 45,074,150 (GRCm39)	D228G	probably damaging	Het
Scgn	T	A	13: 24,173,807 (GRCm39)	T35S	probably benign	Het
Scyl3	C	T	1: 163,762,316 (GRCm39)	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074 (GRCm39)	S123A	probably benign	Het
Sertad2	T	C	11: 20,597,899 (GRCm39)	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,110,447 (GRCm39)		probably null	Het
Sult2a2	T	G	7: 13,472,223 (GRCm39)	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,744,667 (GRCm39)	S320T	probably benign	Het
Trabd2b	T	C	4: 114,266,141 (GRCm39)	Y52H	probably damaging	Het
Trip10	G	T	17: 57,570,017 (GRCm39)	V561F	possibly damaging	Het
Ttc7	G	T	17: 87,614,386 (GRCm39)	V184F	probably benign	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unk	A	G	11: 115,944,491 (GRCm39)	E414G	possibly damaging	Het
Usp42	T	C	5: 143,705,517 (GRCm39)	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,326,781 (GRCm39)	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,303,891 (GRCm39)	H1364Q	possibly damaging	Het

Other mutations in Traf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Traf2	APN	2	25,410,463 (GRCm39)	nonsense	probably null
IGL01010:Traf2	APN	2	25,410,450 (GRCm39)	nonsense	probably null
IGL01063:Traf2	APN	2	25,414,931 (GRCm39)	missense	probably benign	0.00
IGL01146:Traf2	APN	2	25,414,931 (GRCm39)	missense	probably benign	0.00
IGL02114:Traf2	APN	2	25,415,004 (GRCm39)	missense	possibly damaging	0.50
IGL02319:Traf2	APN	2	25,426,695 (GRCm39)	missense	probably damaging	0.99
accessory	UTSW	2	25,427,100 (GRCm39)	frame shift	probably null
infinitum	UTSW	2	25,410,458 (GRCm39)	missense	probably damaging	1.00
parallel	UTSW	2	25,420,427 (GRCm39)	missense	probably benign	0.02
R0116:Traf2	UTSW	2	25,409,621 (GRCm39)	missense	probably damaging	1.00
R0238:Traf2	UTSW	2	25,427,138 (GRCm39)	missense	possibly damaging	0.90
R0238:Traf2	UTSW	2	25,427,138 (GRCm39)	missense	possibly damaging	0.90
R1741:Traf2	UTSW	2	25,414,495 (GRCm39)	missense	probably damaging	1.00
R3605:Traf2	UTSW	2	25,420,427 (GRCm39)	missense	probably benign	0.02
R3607:Traf2	UTSW	2	25,420,427 (GRCm39)	missense	probably benign	0.02
R5296:Traf2	UTSW	2	25,410,452 (GRCm39)	missense	probably damaging	1.00
R5784:Traf2	UTSW	2	25,429,049 (GRCm39)	missense	probably benign	0.32
R7536:Traf2	UTSW	2	25,427,118 (GRCm39)	missense	possibly damaging	0.63
R7639:Traf2	UTSW	2	25,427,100 (GRCm39)	frame shift	probably null
R8684:Traf2	UTSW	2	25,410,458 (GRCm39)	missense	probably damaging	1.00
R9650:Traf2	UTSW	2	25,410,454 (GRCm39)	missense	probably damaging	1.00
Z1176:Traf2	UTSW	2	25,427,156 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCAGTACTAATTACCCAGTTCCACC -3'
(R):5'- CAAGCCACTTGCATGTGCTG -3'

Sequencing Primer
(F):5'- CAAAAACCTTCTAAACTCCATGACG -3'
(R):5'- CACTTGCATGTGCTGTGGCC -3'

Posted On

2016-04-27