Incidental Mutation 'PIT4445001:Tnip2'
ID 555388
Institutional Source Beutler Lab
Gene Symbol Tnip2
Ensembl Gene ENSMUSG00000059866
Gene Name TNFAIP3 interacting protein 2
Synonyms ABIN-2, 1810020H16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # PIT4445001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 34653440-34671323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34654215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 391 (H391R)
Ref Sequence ENSEMBL: ENSMUSP00000030991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030991] [ENSMUST00000087737] [ENSMUST00000114359]
AlphaFold Q99JG7
Predicted Effect probably benign
Transcript: ENSMUST00000030991
AA Change: H391R

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: H391R

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000087737
AA Change: H370R

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: H370R

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000114359
AA Change: H287R

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: H287R

DomainStartEndE-ValueType
coiled coil region 30 123 N/A INTRINSIC
coiled coil region 225 258 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,966,377 (GRCm39) K419E probably damaging Het
Adam7 T A 14: 68,747,197 (GRCm39) K587N possibly damaging Het
Agl T C 3: 116,565,109 (GRCm39) M382V Het
Agpat3 A T 10: 78,109,927 (GRCm39) F341I possibly damaging Het
Ampd2 A T 3: 107,982,328 (GRCm39) L767Q probably damaging Het
Arhgap28 A T 17: 68,203,230 (GRCm39) D124E possibly damaging Het
Arhgap32 T C 9: 32,172,152 (GRCm39) L1644P probably damaging Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm39) N75I probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
Atp8a1 A G 5: 67,780,003 (GRCm39) V1145A Het
Ccdc171 A G 4: 83,579,984 (GRCm39) Q577R probably damaging Het
Cd247 T A 1: 165,688,605 (GRCm39) D154E probably damaging Het
Ceacam1 A T 7: 25,175,881 (GRCm39) N104K probably damaging Het
Chfr A G 5: 110,299,543 (GRCm39) D312G possibly damaging Het
Ddb1 C A 19: 10,603,334 (GRCm39) L881I probably damaging Het
Dgkh A T 14: 78,813,382 (GRCm39) I1032N possibly damaging Het
Efcab6 A T 15: 83,788,468 (GRCm39) V942D probably benign Het
Fmo5 A G 3: 97,558,844 (GRCm39) T435A probably benign Het
Fpr1 T C 17: 18,097,155 (GRCm39) Q278R probably benign Het
Fzr1 C T 10: 81,205,228 (GRCm39) W256* probably null Het
Gabrb1 T C 5: 72,266,125 (GRCm39) S261P probably damaging Het
Galr2 G T 11: 116,172,474 (GRCm39) A55S probably benign Het
Gbp2 A T 3: 142,343,227 (GRCm39) K581N probably benign Het
Gria1 A T 11: 57,076,664 (GRCm39) Y89F probably damaging Het
Ibsp T A 5: 104,450,170 (GRCm39) I26N possibly damaging Het
Igf1r T C 7: 67,857,211 (GRCm39) F1058L probably damaging Het
Ighv1-16 A C 12: 114,629,680 (GRCm39) C36G probably benign Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Ilkap T C 1: 91,313,067 (GRCm39) T143A probably benign Het
Kdm3b A T 18: 34,926,168 (GRCm39) K103* probably null Het
Mphosph9 A G 5: 124,436,853 (GRCm39) I497T possibly damaging Het
Mrgpra3 G A 7: 47,239,908 (GRCm39) T6I possibly damaging Het
Mrpl38 T C 11: 116,023,384 (GRCm39) probably null Het
Myo3a A T 2: 22,434,457 (GRCm39) E813V possibly damaging Het
Myo7b T C 18: 32,095,405 (GRCm39) K1851R probably damaging Het
Myo7b G T 18: 32,092,519 (GRCm39) Q2093K possibly damaging Het
P3h2 T A 16: 25,803,749 (GRCm39) D339V probably benign Het
Pcdhb6 C A 18: 37,468,300 (GRCm39) P407Q possibly damaging Het
Plch2 C A 4: 155,093,483 (GRCm39) R153L probably damaging Het
Plppr4 G A 3: 117,153,957 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,717,776 (GRCm39) F1046S probably damaging Het
Pramel41 T G 5: 94,596,366 (GRCm39) W468G probably benign Het
Prkacb A T 3: 146,461,446 (GRCm39) L107M probably benign Het
Ranbp17 A G 11: 33,431,020 (GRCm39) probably null Het
Rasl11b C A 5: 74,357,994 (GRCm39) P88Q probably damaging Het
Rcc2 A G 4: 140,448,460 (GRCm39) E503G possibly damaging Het
Rnf216 T A 5: 143,071,758 (GRCm39) K407N probably damaging Het
Rusf1 A G 7: 127,875,706 (GRCm39) V243A probably benign Het
Scrn3 G A 2: 73,148,673 (GRCm39) M81I possibly damaging Het
Scube2 T C 7: 109,408,387 (GRCm39) T687A probably benign Het
Serpinb10 T A 1: 107,463,728 (GRCm39) F3L probably benign Het
Sgcb C T 5: 73,797,155 (GRCm39) V202I probably damaging Het
Sgce A G 6: 4,689,654 (GRCm39) V429A possibly damaging Het
Sh3rf2 T C 18: 42,286,229 (GRCm39) V574A probably benign Het
Sncaip T C 18: 53,002,016 (GRCm39) L179S probably damaging Het
Sntg2 A T 12: 30,362,571 (GRCm39) D58E probably damaging Het
Taar3 T C 10: 23,825,586 (GRCm39) I44T possibly damaging Het
Tmem87b G A 2: 128,673,391 (GRCm39) V227I probably benign Het
Tnfsf9 T C 17: 57,412,517 (GRCm39) L29P possibly damaging Het
Traf5 A G 1: 191,729,768 (GRCm39) Y125H Het
Ttc23 T G 7: 67,316,961 (GRCm39) I77M probably damaging Het
Ube2l3 T C 16: 16,978,036 (GRCm39) N43S probably benign Het
Vars2 A T 17: 35,977,103 (GRCm39) C142* probably null Het
Vmn2r15 A C 5: 109,435,008 (GRCm39) D565E probably damaging Het
Vmn2r56 C T 7: 12,449,153 (GRCm39) probably null Het
Vmn2r79 A T 7: 86,651,408 (GRCm39) D269V possibly damaging Het
Vmn2r85 A T 10: 130,261,572 (GRCm39) M255K probably benign Het
Wfdc6a T A 2: 164,421,746 (GRCm39) *137C probably null Het
Wipi2 T C 5: 142,652,639 (GRCm39) V417A probably benign Het
Xirp2 G T 2: 67,340,116 (GRCm39) V786L possibly damaging Het
Zdhhc13 G A 7: 48,445,697 (GRCm39) G26S probably benign Het
Zscan25 T A 5: 145,227,422 (GRCm39) V362D probably damaging Het
Other mutations in Tnip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Tnip2 APN 5 34,656,643 (GRCm39) missense probably benign 0.29
IGL01980:Tnip2 APN 5 34,654,212 (GRCm39) missense probably benign 0.17
IGL02649:Tnip2 APN 5 34,671,075 (GRCm39) missense probably damaging 1.00
IGL03122:Tnip2 APN 5 34,661,095 (GRCm39) missense possibly damaging 0.94
R1713:Tnip2 UTSW 5 34,661,175 (GRCm39) splice site probably benign
R1782:Tnip2 UTSW 5 34,657,012 (GRCm39) missense probably benign 0.21
R2183:Tnip2 UTSW 5 34,656,957 (GRCm39) intron probably benign
R2184:Tnip2 UTSW 5 34,656,957 (GRCm39) intron probably benign
R4417:Tnip2 UTSW 5 34,660,925 (GRCm39) nonsense probably null
R5216:Tnip2 UTSW 5 34,661,149 (GRCm39) missense probably damaging 0.99
R5254:Tnip2 UTSW 5 34,660,922 (GRCm39) missense probably damaging 0.99
R5287:Tnip2 UTSW 5 34,671,108 (GRCm39) missense probably damaging 1.00
R5403:Tnip2 UTSW 5 34,671,108 (GRCm39) missense probably damaging 1.00
R5839:Tnip2 UTSW 5 34,653,976 (GRCm39) utr 3 prime probably benign
R6355:Tnip2 UTSW 5 34,656,541 (GRCm39) nonsense probably null
R6379:Tnip2 UTSW 5 34,660,979 (GRCm39) missense probably damaging 1.00
R7389:Tnip2 UTSW 5 34,671,145 (GRCm39) missense probably benign 0.04
R8224:Tnip2 UTSW 5 34,671,003 (GRCm39) missense possibly damaging 0.46
R9034:Tnip2 UTSW 5 34,671,177 (GRCm39) missense probably damaging 1.00
R9722:Tnip2 UTSW 5 34,654,212 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ATGGTGGTCATGGGTCACAC -3'
(R):5'- GCAAGGCAATGGTATTTAAGGTC -3'

Sequencing Primer
(F):5'- TCATTGGCAGCACTCAGACAGG -3'
(R):5'- CTATTCTGAGCTATGTCTGTAGGGCC -3'
Posted On 2019-06-07