Incidental Mutation 'IGL01843:Tnpo2'
ID 178090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnpo2
Ensembl Gene ENSMUSG00000031691
Gene Name transportin 2 (importin 3, karyopherin beta 2b)
Synonyms Kpnb2b, 1110034O24Rik, TRN2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01843
Quality Score
Status
Chromosome 8
Chromosomal Location 85763544-85784212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85777137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 549 (V549E)
Ref Sequence ENSEMBL: ENSMUSP00000147583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093360] [ENSMUST00000166592] [ENSMUST00000211601]
AlphaFold Q99LG2
Predicted Effect possibly damaging
Transcript: ENSMUST00000093360
AA Change: V549E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: V549E

DomainStartEndE-ValueType
IBN_N 31 99 5.72e-6 SMART
low complexity region 348 369 N/A INTRINSIC
low complexity region 389 407 N/A INTRINSIC
Pfam:HEAT_EZ 408 462 1.2e-13 PFAM
Pfam:HEAT 436 466 2.8e-6 PFAM
Pfam:HEAT 665 695 6.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156084
Predicted Effect possibly damaging
Transcript: ENSMUST00000166592
AA Change: V549E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: V549E

DomainStartEndE-ValueType
IBN_N 31 99 5.72e-6 SMART
low complexity region 348 369 N/A INTRINSIC
low complexity region 389 407 N/A INTRINSIC
Pfam:HEAT_EZ 408 462 2.7e-15 PFAM
Pfam:HEAT 436 466 2.7e-6 PFAM
Pfam:HEAT 665 695 2.1e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210461
Predicted Effect probably damaging
Transcript: ENSMUST00000211601
AA Change: V549E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210576
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,530,301 (GRCm39) probably benign Het
Ap1b1 T C 11: 4,989,169 (GRCm39) L782P probably damaging Het
Arid1a T C 4: 133,408,765 (GRCm39) D1914G unknown Het
C8a G A 4: 104,719,808 (GRCm39) Q57* probably null Het
Cachd1 T C 4: 100,850,069 (GRCm39) S1144P probably damaging Het
Cdh23 A T 10: 60,255,598 (GRCm39) probably null Het
Cenpe A G 3: 134,924,268 (GRCm39) Q198R possibly damaging Het
Cpne8 T C 15: 90,453,700 (GRCm39) I228V probably benign Het
Cr2 A T 1: 194,833,222 (GRCm39) probably benign Het
Csmd3 T C 15: 47,522,395 (GRCm39) probably benign Het
Cyp2c23 A G 19: 43,994,046 (GRCm39) V440A probably benign Het
Dag1 T C 9: 108,085,281 (GRCm39) D620G possibly damaging Het
Dmxl1 T A 18: 50,011,449 (GRCm39) L1202* probably null Het
Dnah3 T G 7: 119,542,798 (GRCm39) H3538P probably benign Het
Dock8 A T 19: 25,067,292 (GRCm39) Q312L probably benign Het
E2f7 T G 10: 110,610,596 (GRCm39) V407G probably benign Het
F13b T C 1: 139,444,165 (GRCm39) S500P probably damaging Het
F5 A G 1: 164,039,395 (GRCm39) I2002V probably benign Het
Flywch1 T A 17: 23,979,319 (GRCm39) M439L possibly damaging Het
Gcn1 C A 5: 115,757,759 (GRCm39) A2488E probably damaging Het
Gria1 T C 11: 57,208,600 (GRCm39) S832P probably damaging Het
Hnrnpr T C 4: 136,066,724 (GRCm39) probably benign Het
Hps3 A G 3: 20,083,165 (GRCm39) I177T probably benign Het
Irgm2 G A 11: 58,111,167 (GRCm39) G298D probably benign Het
Kcnk7 G A 19: 5,756,230 (GRCm39) G152D probably damaging Het
Man2a2 T C 7: 80,012,654 (GRCm39) T620A probably benign Het
Mapk12 A G 15: 89,021,669 (GRCm39) probably benign Het
Mapk6 T C 9: 75,297,572 (GRCm39) Y315C probably damaging Het
Mdga2 T A 12: 66,769,905 (GRCm39) probably null Het
Met T A 6: 17,491,700 (GRCm39) I154N probably damaging Het
Mtrex T C 13: 113,055,095 (GRCm39) probably benign Het
Nap1l1 A G 10: 111,328,772 (GRCm39) R234G possibly damaging Het
Olfm5 C A 7: 103,809,951 (GRCm39) V137F possibly damaging Het
Or4d11 G T 19: 12,014,041 (GRCm39) H22N probably benign Het
Pcdha11 C T 18: 37,145,886 (GRCm39) T659I probably benign Het
Pfkm T C 15: 98,027,187 (GRCm39) V620A possibly damaging Het
Rbak A G 5: 143,162,355 (GRCm39) probably benign Het
Rbl2 A G 8: 91,816,844 (GRCm39) I401M probably benign Het
Rragc T C 4: 123,814,852 (GRCm39) S183P probably damaging Het
Septin3 A G 15: 82,163,814 (GRCm39) probably benign Het
Slc22a6 A T 19: 8,603,578 (GRCm39) probably benign Het
Spag4 A T 2: 155,910,417 (GRCm39) T348S probably benign Het
Sptbn1 T C 11: 30,054,623 (GRCm39) R2157G probably benign Het
Tmem168 G A 6: 13,582,940 (GRCm39) T263M probably damaging Het
Tnik T A 3: 28,625,007 (GRCm39) probably null Het
Ttll7 A C 3: 146,645,776 (GRCm39) K545Q possibly damaging Het
Tubgcp5 T G 7: 55,449,221 (GRCm39) D139E probably benign Het
Vmn1r233 T A 17: 21,214,861 (GRCm39) N30Y probably damaging Het
Vmn2r25 T G 6: 123,829,962 (GRCm39) D63A possibly damaging Het
Vmn2r79 T A 7: 86,686,485 (GRCm39) L622Q probably damaging Het
Vmn2r84 T C 10: 130,222,148 (GRCm39) M691V probably benign Het
Zc3hc1 A T 6: 30,372,729 (GRCm39) probably benign Het
Other mutations in Tnpo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Tnpo2 APN 8 85,767,155 (GRCm39) missense probably damaging 0.98
IGL02475:Tnpo2 APN 8 85,777,131 (GRCm39) missense probably benign 0.33
IGL02536:Tnpo2 APN 8 85,771,696 (GRCm39) missense probably benign
IGL02644:Tnpo2 APN 8 85,771,109 (GRCm39) missense possibly damaging 0.62
IGL02721:Tnpo2 APN 8 85,781,319 (GRCm39) critical splice acceptor site probably null
IGL03155:Tnpo2 APN 8 85,771,709 (GRCm39) missense probably benign 0.03
IGL03198:Tnpo2 APN 8 85,778,347 (GRCm39) missense possibly damaging 0.75
boisterous UTSW 8 85,776,786 (GRCm39) missense probably damaging 1.00
Raucous UTSW 8 85,767,257 (GRCm39) missense probably damaging 1.00
R0127:Tnpo2 UTSW 8 85,767,257 (GRCm39) missense probably damaging 1.00
R0456:Tnpo2 UTSW 8 85,781,045 (GRCm39) missense probably damaging 1.00
R0505:Tnpo2 UTSW 8 85,773,991 (GRCm39) missense probably benign 0.01
R0513:Tnpo2 UTSW 8 85,780,158 (GRCm39) missense probably benign 0.00
R0531:Tnpo2 UTSW 8 85,776,786 (GRCm39) missense probably damaging 1.00
R0595:Tnpo2 UTSW 8 85,778,670 (GRCm39) nonsense probably null
R1113:Tnpo2 UTSW 8 85,781,982 (GRCm39) missense probably damaging 1.00
R1308:Tnpo2 UTSW 8 85,781,982 (GRCm39) missense probably damaging 1.00
R1851:Tnpo2 UTSW 8 85,778,401 (GRCm39) missense probably damaging 1.00
R1965:Tnpo2 UTSW 8 85,771,946 (GRCm39) critical splice donor site probably null
R2057:Tnpo2 UTSW 8 85,776,742 (GRCm39) missense probably damaging 1.00
R2184:Tnpo2 UTSW 8 85,780,475 (GRCm39) missense probably benign 0.35
R3801:Tnpo2 UTSW 8 85,781,800 (GRCm39) splice site probably null
R3871:Tnpo2 UTSW 8 85,781,380 (GRCm39) missense probably null 0.98
R4095:Tnpo2 UTSW 8 85,765,048 (GRCm39) missense probably damaging 1.00
R4611:Tnpo2 UTSW 8 85,780,432 (GRCm39) missense probably benign 0.38
R4925:Tnpo2 UTSW 8 85,776,654 (GRCm39) missense probably damaging 1.00
R5744:Tnpo2 UTSW 8 85,778,523 (GRCm39) nonsense probably null
R6107:Tnpo2 UTSW 8 85,780,104 (GRCm39) missense probably damaging 1.00
R6581:Tnpo2 UTSW 8 85,782,033 (GRCm39) missense probably damaging 1.00
R6586:Tnpo2 UTSW 8 85,771,831 (GRCm39) missense possibly damaging 0.83
R7173:Tnpo2 UTSW 8 85,781,707 (GRCm39) missense probably benign 0.05
R7196:Tnpo2 UTSW 8 85,773,766 (GRCm39) missense possibly damaging 0.91
R7382:Tnpo2 UTSW 8 85,776,748 (GRCm39) missense probably damaging 0.98
R7383:Tnpo2 UTSW 8 85,776,748 (GRCm39) missense probably damaging 0.98
R7384:Tnpo2 UTSW 8 85,776,748 (GRCm39) missense probably damaging 0.98
R7385:Tnpo2 UTSW 8 85,776,748 (GRCm39) missense probably damaging 0.98
R7453:Tnpo2 UTSW 8 85,781,651 (GRCm39) missense probably damaging 1.00
R7488:Tnpo2 UTSW 8 85,781,663 (GRCm39) missense probably benign 0.03
R7638:Tnpo2 UTSW 8 85,771,044 (GRCm39) missense probably benign 0.01
R8004:Tnpo2 UTSW 8 85,771,328 (GRCm39) missense probably benign 0.26
R8021:Tnpo2 UTSW 8 85,781,835 (GRCm39) missense probably damaging 1.00
R8042:Tnpo2 UTSW 8 85,778,188 (GRCm39) missense probably damaging 1.00
R8403:Tnpo2 UTSW 8 85,773,926 (GRCm39) missense probably benign 0.02
R8794:Tnpo2 UTSW 8 85,765,114 (GRCm39) missense probably benign 0.14
R9031:Tnpo2 UTSW 8 85,780,163 (GRCm39) missense probably benign 0.17
R9218:Tnpo2 UTSW 8 85,776,609 (GRCm39) missense possibly damaging 0.75
R9456:Tnpo2 UTSW 8 85,774,015 (GRCm39) missense probably benign 0.01
R9747:Tnpo2 UTSW 8 85,781,988 (GRCm39) missense probably benign
X0027:Tnpo2 UTSW 8 85,771,524 (GRCm39) missense probably benign 0.02
Posted On 2014-05-07