Incidental Mutation 'R9722:Tnip2'
ID 730842
Institutional Source Beutler Lab
Gene Symbol Tnip2
Ensembl Gene ENSMUSG00000059866
Gene Name TNFAIP3 interacting protein 2
Synonyms ABIN-2, 1810020H16Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R9722 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 34653440-34671323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34654212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 288 (V288A)
Ref Sequence ENSEMBL: ENSMUSP00000109999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030991] [ENSMUST00000087737] [ENSMUST00000114359]
AlphaFold Q99JG7
Predicted Effect probably benign
Transcript: ENSMUST00000030991
AA Change: V392A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: V392A

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: V371A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: V371A

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: V288A

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: V288A

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,094,269 (GRCm39) I52F probably benign Het
Abcc3 A T 11: 94,250,072 (GRCm39) L1017Q probably damaging Het
Antxr2 T C 5: 98,096,186 (GRCm39) D366G possibly damaging Het
Astn2 C T 4: 65,831,978 (GRCm39) V563I probably benign Het
Atrn C A 2: 130,803,536 (GRCm39) D575E probably damaging Het
Baz1a C T 12: 54,946,882 (GRCm39) D1228N probably benign Het
Canx A G 11: 50,195,301 (GRCm39) S256P probably benign Het
Ccnt2 T A 1: 127,729,925 (GRCm39) D267E probably damaging Het
Cd209c G T 8: 3,995,905 (GRCm39) R2S probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Dchs2 A G 3: 83,261,301 (GRCm39) Y2523C probably benign Het
Dmxl2 G A 9: 54,323,892 (GRCm39) P990L probably benign Het
Dnajc9 T C 14: 20,438,279 (GRCm39) I108V probably benign Het
Eif2d T C 1: 131,092,948 (GRCm39) probably null Het
Ephb2 T C 4: 136,384,768 (GRCm39) D881G probably damaging Het
Esr1 A G 10: 4,951,215 (GRCm39) N531S probably benign Het
Fbxo2 G A 4: 148,248,883 (GRCm39) R125H probably damaging Het
Foxred1 C T 9: 35,117,300 (GRCm39) S277N possibly damaging Het
Gemin5 T C 11: 58,041,418 (GRCm39) E518G probably damaging Het
Gm17655 A G 5: 110,194,226 (GRCm39) Y519H probably benign Het
Igkv4-57-1 A T 6: 69,521,493 (GRCm39) W70R probably damaging Het
Krtap4-13 A G 11: 99,700,180 (GRCm39) S160P unknown Het
Map3k3 A G 11: 106,033,361 (GRCm39) I205V possibly damaging Het
Map3k4 A C 17: 12,490,523 (GRCm39) F303V probably benign Het
Mpdz T C 4: 81,304,504 (GRCm39) Q132R probably damaging Het
Myo10 T A 15: 25,801,227 (GRCm39) V1472E probably damaging Het
Nckap1 G A 2: 80,401,568 (GRCm39) Q39* probably null Het
Nog A G 11: 89,192,396 (GRCm39) S151P probably damaging Het
Obox6 G A 7: 15,568,831 (GRCm39) S15F probably benign Het
Odf2 A G 2: 29,813,594 (GRCm39) H647R possibly damaging Het
Or6c74 A G 10: 129,869,500 (GRCm39) R2G probably benign Het
Pcdhga11 T C 18: 37,890,398 (GRCm39) S469P possibly damaging Het
Pcnx4 T C 12: 72,603,039 (GRCm39) Y434H probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pglyrp3 A G 3: 91,938,695 (GRCm39) K290R possibly damaging Het
Phactr3 G A 2: 177,898,043 (GRCm39) E86K probably damaging Het
Piezo1 A C 8: 123,225,497 (GRCm39) L530R Het
Pigg A T 5: 108,495,767 (GRCm39) I935F possibly damaging Het
Pofut2 T C 10: 77,102,759 (GRCm39) S282P possibly damaging Het
Ppfia1 A G 7: 144,071,402 (GRCm39) S337P probably benign Het
Sdr16c5 A T 4: 4,005,595 (GRCm39) D246E probably benign Het
Sgsm1 T A 5: 113,428,207 (GRCm39) H327L possibly damaging Het
Slc39a4 A G 15: 76,500,211 (GRCm39) I113T possibly damaging Het
Slc5a7 A G 17: 54,603,985 (GRCm39) probably null Het
Snx11 A G 11: 96,661,925 (GRCm39) S86P probably benign Het
Srm T A 4: 148,676,245 (GRCm39) probably null Het
Tas2r126 T C 6: 42,412,082 (GRCm39) I205T possibly damaging Het
Tek T G 4: 94,692,539 (GRCm39) W216G possibly damaging Het
Tenm3 A T 8: 48,753,849 (GRCm39) S851R probably benign Het
Tpx2 T A 2: 152,733,476 (GRCm39) probably null Het
Trim33 C A 3: 103,261,146 (GRCm39) T1115K possibly damaging Het
Tspan13 T A 12: 36,074,017 (GRCm39) I40F probably damaging Het
Ube2v2 T C 16: 15,394,899 (GRCm39) I91V probably benign Het
Vmn1r22 A T 6: 57,877,631 (GRCm39) F115L probably benign Het
Vmn2r7 G A 3: 64,598,407 (GRCm39) P717S probably damaging Het
Zan T C 5: 137,387,324 (GRCm39) T4910A unknown Het
Zfp599 T A 9: 22,160,741 (GRCm39) T475S probably damaging Het
Zfp638 T A 6: 83,923,301 (GRCm39) F700I probably damaging Het
Zfp985 A C 4: 147,667,618 (GRCm39) K162T possibly 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
PIT4445001:Tnip2 UTSW 5 34,654,215 (GRCm39) missense probably benign 0.41
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
Predicted Primers PCR Primer
(F):5'- ATGGTGGTCATGGGTCACAC -3'
(R):5'- GCAAGGCAATGGTATTTAAGGTC -3'

Sequencing Primer
(F):5'- TCATTGGCAGCACTCAGACAGG -3'
(R):5'- CTATTCTGAGCTATGTCTGTAGGGCC -3'
Posted On 2022-10-06