Incidental Mutation 'R5254:Tnip2'
ID 399327
Institutional Source Beutler Lab
Gene Symbol Tnip2
Ensembl Gene ENSMUSG00000059866
Gene Name TNFAIP3 interacting protein 2
Synonyms ABIN-2, 1810020H16Rik
MMRRC Submission 042825-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.344) question?
Stock # R5254 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 34496087-34513991 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34503578 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 177 (Q177K)
Ref Sequence ENSEMBL: ENSMUSP00000030991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030991] [ENSMUST00000087737] [ENSMUST00000114359]
AlphaFold Q99JG7
Predicted Effect probably damaging
Transcript: ENSMUST00000030991
AA Change: Q177K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: Q177K

coiled coil region 30 123 N/A INTRINSIC
Pfam:EABR 236 269 7.2e-21 PFAM
Pfam:CC2-LZ 264 364 5.5e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000087737
AA Change: Q177K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: Q177K

coiled coil region 30 123 N/A INTRINSIC
Pfam:EABR 215 249 4.9e-23 PFAM
coiled coil region 256 341 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114359
AA Change: Q177K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: Q177K

coiled coil region 30 123 N/A INTRINSIC
coiled coil region 225 258 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144791
AA Change: T210K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159102
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (82/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele have impaired IL-1 response and macrophage physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 G T 8: 71,458,398 (GRCm38) C296* probably null Het
Adam11 T A 11: 102,774,272 (GRCm38) Y413* probably null Het
Ankhd1 A G 18: 36,656,715 (GRCm38) I907V probably benign Het
Arrdc5 A G 17: 56,297,897 (GRCm38) I130T probably benign Het
Asic5 T A 3: 82,020,987 (GRCm38) I419K probably damaging Het
Atp4a A T 7: 30,715,530 (GRCm38) E248V probably damaging Het
Avil C A 10: 127,011,761 (GRCm38) V154L probably benign Het
Bclaf1 T A 10: 20,323,536 (GRCm38) H226Q possibly damaging Het
Cald1 A G 6: 34,746,416 (GRCm38) probably benign Het
Cd200r4 A C 16: 44,832,090 (GRCm38) D27A possibly damaging Het
Cdsn T A 17: 35,552,202 (GRCm38) M1K probably null Het
Cfap46 T A 7: 139,678,514 (GRCm38) H281L possibly damaging Het
Chaf1a T C 17: 56,062,606 (GRCm38) F533L probably benign Het
Chil4 T A 3: 106,219,452 (GRCm38) I5F probably benign Het
Ctu2 A T 8: 122,476,588 (GRCm38) R48W probably damaging Het
Daam1 A T 12: 71,946,576 (GRCm38) H373L unknown Het
Dcaf10 T A 4: 45,370,415 (GRCm38) Y328N possibly damaging Het
Dst A T 1: 34,177,931 (GRCm38) K1151* probably null Het
Ect2 T C 3: 27,130,070 (GRCm38) D503G probably damaging Het
Epm2a C A 10: 11,457,345 (GRCm38) D307E probably benign Het
Exph5 A T 9: 53,337,930 (GRCm38) D73V probably damaging Het
Fam20b C T 1: 156,705,740 (GRCm38) G102D probably damaging Het
Fat2 T C 11: 55,281,175 (GRCm38) N2904S probably damaging Het
Flt3 T A 5: 147,375,690 (GRCm38) Q147L possibly damaging Het
Fndc11 A G 2: 181,222,163 (GRCm38) T254A possibly damaging Het
Galnt15 C T 14: 32,058,287 (GRCm38) R514* probably null Het
Gbgt1 A G 2: 28,505,208 (GRCm38) D286G probably damaging Het
Ggt1 T A 10: 75,579,198 (GRCm38) probably null Het
Gm26526 A T 7: 39,589,234 (GRCm38) noncoding transcript Het
H2-K1 T C 17: 33,997,462 (GRCm38) T237A probably damaging Het
Igf1r T A 7: 68,207,319 (GRCm38) S1010T probably damaging Het
Il21 T C 3: 37,227,735 (GRCm38) T87A possibly damaging Het
Kmt2b G A 7: 30,569,175 (GRCm38) R2010C probably damaging Het
Kmt2c G A 5: 25,314,594 (GRCm38) P2173S probably benign Het
Krt1 A T 15: 101,846,368 (GRCm38) S512T unknown Het
Krtap16-1 G A 11: 99,985,598 (GRCm38) R327* probably null Het
Lama1 T A 17: 67,756,716 (GRCm38) I745N probably benign Het
Lrrk1 T A 7: 66,307,107 (GRCm38) N372I probably benign Het
Lyst A T 13: 13,683,070 (GRCm38) E2481D probably benign Het
Map2k1 A T 9: 64,187,745 (GRCm38) probably benign Het
Mbip A G 12: 56,337,443 (GRCm38) V215A probably damaging Het
Mdc1 T A 17: 35,847,922 (GRCm38) V398D probably benign Het
Mog T G 17: 37,012,372 (GRCm38) I225L probably benign Het
Mrgprx3-ps T A 7: 47,309,436 (GRCm38) noncoding transcript Het
Muc5b C T 7: 141,864,540 (GRCm38) S3741L probably benign Het
Myo5a A T 9: 75,130,120 (GRCm38) I202F probably damaging Het
Myo5b A T 18: 74,700,606 (GRCm38) I818F possibly damaging Het
Nfia T A 4: 98,014,297 (GRCm38) M262K probably damaging Het
Nisch C T 14: 31,206,567 (GRCm38) probably null Het
Nkd1 A G 8: 88,589,194 (GRCm38) D64G probably damaging Het
Nt5c2 T A 19: 46,893,560 (GRCm38) K284* probably null Het
Or14a259 A T 7: 86,364,190 (GRCm38) V49E possibly damaging Het
Or4k15b C A 14: 50,034,678 (GRCm38) A242S possibly damaging Het
Or4l1 A T 14: 49,928,779 (GRCm38) I255N probably damaging Het
Or52z14 T G 7: 103,603,789 (GRCm38) I45R probably benign Het
Or5an1c A G 19: 12,241,248 (GRCm38) S138P probably damaging Het
Or5j3 A T 2: 86,297,921 (GRCm38) Y35F probably damaging Het
Or8g55 A T 9: 39,873,445 (GRCm38) T57S possibly damaging Het
Or8k24 A T 2: 86,386,140 (GRCm38) S93T possibly damaging Het
Pcdhb17 A T 18: 37,486,825 (GRCm38) D556V probably damaging Het
Pcdhga8 A T 18: 37,726,620 (GRCm38) D243V probably benign Het
Polq A T 16: 37,089,319 (GRCm38) Q2355L probably damaging Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Slc5a4a C A 10: 76,182,738 (GRCm38) Y506* probably null Het
Sp110 G C 1: 85,577,202 (GRCm38) probably benign Het
Tarbp1 G A 8: 126,467,156 (GRCm38) H336Y probably damaging Het
Tas2r134 T G 2: 51,627,547 (GRCm38) F13V probably benign Het
Tgfb2 A G 1: 186,704,483 (GRCm38) Y98H probably damaging Het
Tmprss11a C A 5: 86,411,806 (GRCm38) V376L probably damaging Het
Tmprss11f T A 5: 86,538,033 (GRCm38) K158N probably benign Het
Trp53inp1 T A 4: 11,165,075 (GRCm38) probably null Het
Ttc28 C T 5: 111,271,238 (GRCm38) P1398S probably benign Het
Umodl1 T G 17: 30,980,359 (GRCm38) I308S possibly damaging Het
Vcan A T 13: 89,691,600 (GRCm38) S1942T probably damaging Het
Vmn2r124 T A 17: 18,063,077 (GRCm38) N344K probably benign Het
Vmn2r25 C G 6: 123,825,318 (GRCm38) C542S probably damaging Het
Wiz T A 17: 32,378,496 (GRCm38) probably benign Het
Wrap73 A G 4: 154,155,346 (GRCm38) Y343C probably benign Het
Other mutations in Tnip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Tnip2 APN 5 34,499,299 (GRCm38) missense probably benign 0.29
IGL01980:Tnip2 APN 5 34,496,868 (GRCm38) missense probably benign 0.17
IGL02649:Tnip2 APN 5 34,513,731 (GRCm38) missense probably damaging 1.00
IGL03122:Tnip2 APN 5 34,503,751 (GRCm38) missense possibly damaging 0.94
PIT4445001:Tnip2 UTSW 5 34,496,871 (GRCm38) missense probably benign 0.41
R1713:Tnip2 UTSW 5 34,503,831 (GRCm38) splice site probably benign
R1782:Tnip2 UTSW 5 34,499,668 (GRCm38) missense probably benign 0.21
R2183:Tnip2 UTSW 5 34,499,613 (GRCm38) intron probably benign
R2184:Tnip2 UTSW 5 34,499,613 (GRCm38) intron probably benign
R4417:Tnip2 UTSW 5 34,503,581 (GRCm38) nonsense probably null
R5216:Tnip2 UTSW 5 34,503,805 (GRCm38) missense probably damaging 0.99
R5287:Tnip2 UTSW 5 34,513,764 (GRCm38) missense probably damaging 1.00
R5403:Tnip2 UTSW 5 34,513,764 (GRCm38) missense probably damaging 1.00
R5839:Tnip2 UTSW 5 34,496,632 (GRCm38) utr 3 prime probably benign
R6355:Tnip2 UTSW 5 34,499,197 (GRCm38) nonsense probably null
R6379:Tnip2 UTSW 5 34,503,635 (GRCm38) missense probably damaging 1.00
R7389:Tnip2 UTSW 5 34,513,801 (GRCm38) missense probably benign 0.04
R8224:Tnip2 UTSW 5 34,513,659 (GRCm38) missense possibly damaging 0.46
R9034:Tnip2 UTSW 5 34,513,833 (GRCm38) missense probably damaging 1.00
R9722:Tnip2 UTSW 5 34,496,868 (GRCm38) missense probably benign 0.17
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-06