Incidental Mutation 'R1308:Tnpo2'
ID 157855
Institutional Source Beutler Lab
Gene Symbol Tnpo2
Ensembl Gene ENSMUSG00000031691
Gene Name transportin 2 (importin 3, karyopherin beta 2b)
Synonyms Kpnb2b, 1110034O24Rik, TRN2
MMRRC Submission 039374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1308 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 85763544-85784212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85781982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 857 (F857S)
Ref Sequence ENSEMBL: ENSMUSP00000147583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093360] [ENSMUST00000095220] [ENSMUST00000166592] [ENSMUST00000211601]
AlphaFold Q99LG2
Predicted Effect probably damaging
Transcript: ENSMUST00000093360
AA Change: F867S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091051
Gene: ENSMUSG00000031691
AA Change: F867S

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: ENSMUST00000095220
SMART Domains Protein: ENSMUSP00000092845
Gene: ENSMUSG00000008167

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
FBOX 82 123 7.47e-4 SMART
WD40 161 201 2.98e-1 SMART
WD40 210 252 4.55e-3 SMART
WD40 256 292 7.8e-2 SMART
WD40 296 333 1.03e0 SMART
WD40 377 415 2.57e0 SMART
Blast:WD40 419 455 8e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156084
Predicted Effect probably damaging
Transcript: ENSMUST00000166592
AA Change: F867S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133076
Gene: ENSMUSG00000031691
AA Change: F867S

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 probably damaging
Transcript: ENSMUST00000211601
AA Change: F857S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210576
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 C T 8: 18,742,134 (GRCm39) W474* probably null Het
Cln6 A G 9: 62,758,143 (GRCm39) T301A probably damaging Het
G6pc2 A T 2: 69,050,570 (GRCm39) D65V probably damaging Het
Havcr1 C T 11: 46,647,097 (GRCm39) T177I probably damaging Het
Jph1 A G 1: 17,161,918 (GRCm39) I248T probably damaging Het
Lamc2 A G 1: 153,026,564 (GRCm39) L230P probably damaging Het
Lmnb1 A G 18: 56,861,547 (GRCm39) K146R probably benign Het
Map3k6 T C 4: 132,973,126 (GRCm39) S395P probably damaging Het
Myo6 G A 9: 80,152,996 (GRCm39) V210I probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Otoa C A 7: 120,724,666 (GRCm39) C448* probably null Het
Pate6 T C 9: 35,700,385 (GRCm39) T67A probably benign Het
Prkcg G C 7: 3,377,622 (GRCm39) K525N probably damaging Het
Pros1 G A 16: 62,734,228 (GRCm39) D345N probably damaging Het
Prss47 T C 13: 65,199,630 (GRCm39) H83R probably benign Het
R3hdml G T 2: 163,344,319 (GRCm39) C236F probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt12 A T 19: 4,510,763 (GRCm39) V37E probably damaging Het
Tekt2 A T 4: 126,218,711 (GRCm39) L14H probably damaging Het
Wdr27 T C 17: 15,148,646 (GRCm39) T116A 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCCTTAGGAACATCCGGGACAAC -3'
(R):5'- CAGATGGACAGATGCACAGACTGC -3'

Sequencing Primer
(F):5'- CGAGGCATCTGCATGATGATTG -3'
(R):5'- ATGCACAGACTGCGTTGC -3'
Posted On 2014-02-18