Incidental Mutation 'IGL02644:Tnpo2'
ID 301851
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 # IGL02644
Quality Score
Status
Chromosome 8
Chromosomal Location 85763544-85784212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85771109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 132 (C132S)
Ref Sequence ENSEMBL: ENSMUSP00000148185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093360] [ENSMUST00000166592] [ENSMUST00000210945] [ENSMUST00000211601]
AlphaFold Q99LG2
Predicted Effect probably benign
Transcript: ENSMUST00000093360
AA Change: C132S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: C132S

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 probably benign
Transcript: ENSMUST00000166592
AA Change: C132S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: C132S

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: ENSMUST00000210117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210576
Predicted Effect possibly damaging
Transcript: ENSMUST00000210945
AA Change: C132S

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000211601
AA Change: C132S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A T 3: 151,198,007 (GRCm39) Y89F probably benign Het
Agl A G 3: 116,580,246 (GRCm39) Y406H probably damaging Het
Ankhd1 G A 18: 36,711,828 (GRCm39) probably null Het
Ankmy1 T C 1: 92,812,776 (GRCm39) D511G probably benign Het
Arid2 T C 15: 96,266,589 (GRCm39) Y546H probably damaging Het
Asap1 G T 15: 63,982,911 (GRCm39) P806T probably damaging Het
Aspa T A 11: 73,212,992 (GRCm39) T117S probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bspry A T 4: 62,414,565 (GRCm39) H386L probably damaging Het
C1qc T C 4: 136,617,629 (GRCm39) T156A possibly damaging Het
Cfhr4 A G 1: 139,708,905 (GRCm39) M1T probably null Het
Copz2 A T 11: 96,744,257 (GRCm39) probably benign Het
Cybb A G X: 9,333,395 (GRCm39) V23A probably benign Het
D630003M21Rik T A 2: 158,058,730 (GRCm39) D390V possibly damaging Het
Dennd10 T A 19: 60,810,741 (GRCm39) S43T possibly damaging Het
Dpy19l2 G T 9: 24,569,888 (GRCm39) P355Q probably damaging Het
Gcn1 A T 5: 115,713,250 (GRCm39) Q71L probably benign Het
Gpd1l T C 9: 114,732,725 (GRCm39) probably null Het
Hydin A G 8: 111,265,100 (GRCm39) D2761G probably damaging Het
Ifi202b T A 1: 173,799,280 (GRCm39) H256L probably benign Het
Igkv8-24 T C 6: 70,193,872 (GRCm39) Y112C probably damaging Het
Lama3 G A 18: 12,658,910 (GRCm39) R2022Q probably benign Het
Mroh4 T A 15: 74,482,224 (GRCm39) R675S possibly damaging Het
Mtf1 T G 4: 124,714,028 (GRCm39) C146G probably damaging Het
Nubpl A G 12: 52,317,841 (GRCm39) D178G probably damaging Het
Or7e165 A C 9: 19,695,010 (GRCm39) I194L probably benign Het
Pam16 A G 16: 4,434,697 (GRCm39) S91P probably damaging Het
Pcdhac2 A G 18: 37,278,232 (GRCm39) E404G probably benign Het
Pde7a C A 3: 19,311,031 (GRCm39) probably benign Het
Perm1 G T 4: 156,303,043 (GRCm39) G529V probably damaging Het
Pik3c2a T C 7: 115,972,049 (GRCm39) T794A probably benign Het
Ppfibp1 A G 6: 146,923,938 (GRCm39) Y722C probably damaging Het
Ppm1m A T 9: 106,074,082 (GRCm39) I241N probably damaging Het
Psd T C 19: 46,311,834 (GRCm39) Y282C probably damaging Het
Rpl27 T A 11: 101,336,317 (GRCm39) probably benign Het
Scaf1 A G 7: 44,655,357 (GRCm39) probably benign Het
Sec14l2 A T 11: 4,053,380 (GRCm39) probably benign Het
Smchd1 T A 17: 71,667,016 (GRCm39) probably benign Het
Sptb A T 12: 76,652,391 (GRCm39) D1615E probably damaging Het
Stt3a A C 9: 36,663,649 (GRCm39) C198G possibly damaging Het
Tas2r144 T C 6: 42,192,787 (GRCm39) S176P possibly damaging Het
Tlr13 A G X: 105,200,503 (GRCm39) D80G probably benign Het
Tmco4 A G 4: 138,737,920 (GRCm39) probably benign Het
Tubgcp3 T C 8: 12,698,733 (GRCm39) D406G probably damaging Het
Vmn2r125 G A 4: 156,703,294 (GRCm39) R224Q probably benign Het
Zfp524 C A 7: 5,020,479 (GRCm39) D2E probably damaging Het
Other mutations in Tnpo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Tnpo2 APN 8 85,767,155 (GRCm39) missense probably damaging 0.98
IGL01843:Tnpo2 APN 8 85,777,137 (GRCm39) missense probably damaging 0.99
IGL02475:Tnpo2 APN 8 85,777,131 (GRCm39) missense probably benign 0.33
IGL02536:Tnpo2 APN 8 85,771,696 (GRCm39) missense probably benign
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 2015-04-16