Mutagenetix > Incidental Mutation

Incidental Mutation 'R0238:Traf2'

66064

Institutional Source

Beutler Lab

Gene Symbol

Traf2

Ensembl Gene

ENSMUSG00000026942

Gene Name

TNF receptor-associated factor 2

Synonyms

MMRRC Submission

038476-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0238 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

25407994-25436952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 25427138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 71 (A71G)

Ref Sequence

ENSEMBL: ENSMUSP00000028311 (fasta)

Gene Model

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

AlphaFold

P39429

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028311
AA Change: A71G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028311
Gene: ENSMUSG00000026942
AA Change: A71G

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

possibly damaging
Transcript: ENSMUST00000114234
AA Change: A78G

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109872
Gene: ENSMUSG00000026942
AA Change: A78G

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

Meta Mutation Damage Score

0.1556

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 92.6%
20x: 76.9%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	G	2: 156,392,893 (GRCm39)	V94G	probably benign	Het
Acp5	A	T	9: 22,041,218 (GRCm39)	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,089,162 (GRCm39)	N525K	possibly damaging	Het
Aknad1	A	G	3: 108,688,555 (GRCm39)	M628V	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Ccdc158	A	C	5: 92,809,977 (GRCm39)	M177R	probably benign	Het
Ccdc191	A	T	16: 43,767,859 (GRCm39)	R678*	probably null	Het
Cdkn2d	C	A	9: 21,202,288 (GRCm39)		probably benign	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap44	T	A	16: 44,242,681 (GRCm39)	M695K	probably benign	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chd9	T	C	8: 91,659,456 (GRCm39)	S139P	probably damaging	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Cnga1	A	G	5: 72,762,374 (GRCm39)	I380T	probably damaging	Het
Cts6	T	A	13: 61,349,633 (GRCm39)	E53D	probably damaging	Het
Dclk3	A	T	9: 111,311,696 (GRCm39)	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Fam163b	T	C	2: 27,002,646 (GRCm39)	N117S	probably damaging	Het
Fam89a	A	G	8: 125,467,971 (GRCm39)	Y114H	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gm20422	T	C	8: 70,219,365 (GRCm39)	Y53C	probably damaging	Het
Gnai1	A	G	5: 18,478,548 (GRCm39)	S206P	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Haus3	G	A	5: 34,323,600 (GRCm39)	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hspa9	A	T	18: 35,079,699 (GRCm39)	Y243*	probably null	Het
Htr3a	T	C	9: 48,817,686 (GRCm39)	T96A	probably benign	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Jph3	A	G	8: 122,480,459 (GRCm39)	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 166,946,889 (GRCm39)	V653A	probably benign	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Map3k21	A	G	8: 126,671,709 (GRCm39)	D999G	possibly damaging	Het
Marf1	T	C	16: 13,969,147 (GRCm39)	I109V	probably benign	Het
Mcam	T	G	9: 44,051,502 (GRCm39)		probably null	Het
Med18	T	C	4: 132,187,337 (GRCm39)	H99R	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo1e	A	T	9: 70,249,408 (GRCm39)	I503F	possibly damaging	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Myorg	A	T	4: 41,498,912 (GRCm39)	N239K	probably benign	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,077,437 (GRCm39)	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,646,139 (GRCm39)	Q338*	probably null	Het
Nt5e	A	G	9: 88,249,385 (GRCm39)	S440G	possibly damaging	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,399,511 (GRCm39)	K51R	probably benign	Het
Pcdhb12	A	G	18: 37,569,780 (GRCm39)	I309V	probably benign	Het
Pck1	T	G	2: 172,998,861 (GRCm39)	I373S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Rab39	G	A	9: 53,617,330 (GRCm39)	T29I	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Rars2	T	C	4: 34,645,838 (GRCm39)	Y252H	probably damaging	Het
Rars2	A	C	4: 34,656,030 (GRCm39)	Q421P	probably benign	Het
Rasa2	A	T	9: 96,450,460 (GRCm39)	D479E	probably damaging	Het
Rbl2	A	T	8: 91,833,135 (GRCm39)	T689S	probably damaging	Het
Rims4	C	T	2: 163,705,945 (GRCm39)	V230M	probably benign	Het
Skp2	A	C	15: 9,127,971 (GRCm39)		probably null	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,641,272 (GRCm39)		probably null	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Susd5	A	G	9: 113,925,977 (GRCm39)	*620W	probably null	Het
Timm21	T	C	18: 84,965,791 (GRCm39)	N239S	probably damaging	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,772,065 (GRCm39)	D1118G	probably damaging	Het
Trim54	A	G	5: 31,291,463 (GRCm39)	M195V	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trp73	AGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	4: 154,146,981 (GRCm39)		probably benign	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp329	G	T	7: 12,544,756 (GRCm39)	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,740,022 (GRCm39)	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,001,903 (GRCm39)	E773G	probably 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
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
R4940:Traf2	UTSW	2	25,420,300 (GRCm39)	missense	probably null	0.48
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

Posted On

2013-08-19