Incidental Mutation 'R5296:Traf2'
ID 405392
Institutional Source Beutler Lab
Gene Symbol Traf2
Ensembl Gene ENSMUSG00000026942
Gene Name TNF receptor-associated factor 2
Synonyms
MMRRC Submission 042879-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5296 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25407994-25436952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25410452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 399 (L399P)
Ref Sequence ENSEMBL: ENSMUSP00000109872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028311] [ENSMUST00000114234]
AlphaFold P39429
Predicted Effect probably damaging
Transcript: ENSMUST00000028311
AA Change: L392P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028311
Gene: ENSMUSG00000026942
AA Change: L392P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000114234
AA Change: L399P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109872
Gene: ENSMUSG00000026942
AA Change: L399P

DomainStartEndE-ValueType
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 0.9289 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 100% (65/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobr A C 7: 126,187,196 (GRCm39) D89A probably damaging Het
Bhlhe41 C T 6: 145,808,694 (GRCm39) probably benign Het
Cacna1s G A 1: 136,023,523 (GRCm39) V674M probably benign Het
Cavin2 T C 1: 51,329,029 (GRCm39) probably null Het
Cd300lb T C 11: 114,815,763 (GRCm39) S106G possibly damaging Het
Ceacam15 A G 7: 16,407,121 (GRCm39) V132A probably benign Het
Ddi2 G T 4: 141,412,076 (GRCm39) Q279K probably benign Het
Dnah11 A G 12: 117,847,151 (GRCm39) V4304A probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Epsti1 T A 14: 78,142,090 (GRCm39) H55Q probably benign Het
Flad1 T C 3: 89,318,503 (GRCm39) T17A probably damaging Het
Fzd2 C T 11: 102,496,981 (GRCm39) T475M probably damaging Het
Gemin5 C A 11: 58,020,887 (GRCm39) W1099L probably damaging Het
Gm9892 T C 8: 52,649,964 (GRCm39) noncoding transcript Het
Gmeb2 A G 2: 180,897,779 (GRCm39) probably benign Het
Grip1 A G 10: 119,765,833 (GRCm39) E55G probably damaging Het
Gvin-ps3 A T 7: 105,681,055 (GRCm39) noncoding transcript Het
Hltf T C 3: 20,162,276 (GRCm39) S825P probably damaging Het
Kcnh3 A T 15: 99,139,820 (GRCm39) Q902L probably null Het
Kcnt2 C T 1: 140,537,353 (GRCm39) P1037L probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lama5 A C 2: 179,835,594 (GRCm39) L1253R probably damaging Het
Lancl2 T G 6: 57,701,567 (GRCm39) S230A probably benign Het
Lmcd1 A G 6: 112,292,549 (GRCm39) M134V probably damaging Het
Lrrc23 C A 6: 124,751,445 (GRCm39) A205S probably damaging Het
Mfsd13b T A 7: 120,590,961 (GRCm39) I234N probably damaging Het
Mroh3 A G 1: 136,124,061 (GRCm39) S386P probably damaging Het
Mylk3 A C 8: 86,082,060 (GRCm39) F313V possibly damaging Het
Myo9b A T 8: 71,786,032 (GRCm39) Q643L possibly damaging Het
Nacad T C 11: 6,555,745 (GRCm39) S2G unknown Het
Olfr908 T C 9: 38,427,412 (GRCm39) F28S probably damaging Het
Or10z1 G T 1: 174,078,322 (GRCm39) T57K possibly damaging Het
Or2n1d C T 17: 38,646,347 (GRCm39) Q100* probably null Het
Or4x6 A T 2: 89,949,043 (GRCm39) W300R probably damaging Het
Pkd1 T C 17: 24,795,048 (GRCm39) V2245A probably damaging Het
Pkdrej G A 15: 85,701,319 (GRCm39) T1539I possibly damaging Het
Plch2 G T 4: 155,074,456 (GRCm39) probably null Het
Pygm G A 19: 6,434,609 (GRCm39) R34H probably damaging Het
Rgs12 T C 5: 35,178,448 (GRCm39) probably benign Het
Ruvbl1 T C 6: 88,462,890 (GRCm39) I338T probably damaging Het
Sapcd1 T A 17: 35,245,707 (GRCm39) Q104L probably damaging Het
Satb2 T C 1: 56,836,066 (GRCm39) E575G probably damaging Het
Sema6b T A 17: 56,434,091 (GRCm39) probably null Het
Slc25a11 T C 11: 70,537,011 (GRCm39) N15D probably damaging Het
Slc26a6 C T 9: 108,737,845 (GRCm39) T526M probably damaging Het
Tcaf3 G T 6: 42,564,444 (GRCm39) T906K possibly damaging Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Troap T A 15: 98,976,698 (GRCm39) V274D probably damaging Het
Utrn G A 10: 12,277,099 (GRCm39) T3406M probably damaging Het
Uts2 G T 4: 151,083,508 (GRCm39) A40S possibly damaging Het
Vmn2r109 T A 17: 20,774,603 (GRCm39) I251F possibly damaging Het
Vmn2r67 A G 7: 84,786,230 (GRCm39) S592P probably damaging Het
Vps13b T G 15: 35,876,559 (GRCm39) W2797G probably damaging Het
Ythdf1 A T 2: 180,553,981 (GRCm39) M51K probably damaging Het
Zfp60 T A 7: 27,437,955 (GRCm39) probably benign Het
Zfp882 T A 8: 72,668,204 (GRCm39) F344I probably damaging Het
Other mutations in Traf2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4940:Traf2 UTSW 2 25,420,300 (GRCm39) missense probably null 0.48
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'- CGGCACTGAGAAATAATCACTGC -3'
(R):5'- TGTTTCTTTTGTGAGGAAACCC -3'

Sequencing Primer
(F):5'- GCATGGATTCATACAGCGTC -3'
(R):5'- GTGAGGAAACCCTTTTCTTGATAC -3'
Posted On 2016-07-22