Incidental Mutation 'R4881:Tmpo'
ID 375287
Institutional Source Beutler Lab
Gene Symbol Tmpo
Ensembl Gene ENSMUSG00000019961
Gene Name thymopoietin
Synonyms TP, LAP2, lamina-associated polypeptide 2, 5630400D24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4881 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 90983433-91017177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90998503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 428 (P428L)
Ref Sequence ENSEMBL: ENSMUSP00000020123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020123] [ENSMUST00000072239] [ENSMUST00000092219] [ENSMUST00000099355] [ENSMUST00000105293]
AlphaFold Q61033
PDB Structure THE DIMERIZATION DOMAIN OF LAP2ALPHA [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020123
AA Change: P428L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: P428L

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
low complexity region 189 197 N/A INTRINSIC
low complexity region 410 422 N/A INTRINSIC
Pfam:LAP2alpha 459 692 6.4e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072239
SMART Domains Protein: ENSMUSP00000072092
Gene: ENSMUSG00000019961

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
low complexity region 226 240 N/A INTRINSIC
transmembrane domain 410 429 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092219
SMART Domains Protein: ENSMUSP00000089864
Gene: ENSMUSG00000019961

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099355
SMART Domains Protein: ENSMUSP00000096956
Gene: ENSMUSG00000019961

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
transmembrane domain 338 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105293
SMART Domains Protein: ENSMUSP00000100930
Gene: ENSMUSG00000019961

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
transmembrane domain 301 320 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216402
Meta Mutation Damage Score 0.1055 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous null for a protein isoform generated from this locus have hyperproliferation of epidermal and erythroid progenitor cells that leads to thickened paws and increased crypt lengths in the colon. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,877,472 (GRCm39) L1040P possibly damaging Het
Acot11 C A 4: 106,612,502 (GRCm39) probably null Het
Aldoart2 C A 12: 55,612,899 (GRCm39) Q275K probably damaging Het
Auts2 T C 5: 131,501,288 (GRCm39) T42A probably damaging Het
Bora C T 14: 99,299,003 (GRCm39) L187F probably damaging Het
Cbln4 A G 2: 171,884,059 (GRCm39) S54P possibly damaging Het
Celsr3 T A 9: 108,721,140 (GRCm39) L2661Q probably damaging Het
Cfap65 T C 1: 74,946,772 (GRCm39) T1313A probably damaging Het
Dbndd2 C A 2: 164,332,225 (GRCm39) probably benign Het
Dennd4a A G 9: 64,746,126 (GRCm39) D4G possibly damaging Het
Dmxl1 T A 18: 50,090,348 (GRCm39) probably benign Het
Dnah7b T C 1: 46,240,478 (GRCm39) C1532R probably damaging Het
Erbb3 A T 10: 128,412,816 (GRCm39) H591Q probably benign Het
Exosc4 T C 15: 76,213,770 (GRCm39) L198P probably damaging Het
F2r A T 13: 95,754,837 (GRCm39) C16S possibly damaging Het
Gtf2h4 A T 17: 35,981,125 (GRCm39) I234N possibly damaging Het
Ift27 A T 15: 78,049,448 (GRCm39) V84D probably damaging Het
Ints10 C T 8: 69,263,256 (GRCm39) A389V probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Klrc2 T A 6: 129,637,471 (GRCm39) T17S possibly damaging Het
Matr3 T A 18: 35,705,428 (GRCm39) S118T probably damaging Het
Mfsd6l C T 11: 68,448,748 (GRCm39) A533V probably benign Het
Msh3 A G 13: 92,402,549 (GRCm39) probably benign Het
Myo5c A G 9: 75,191,434 (GRCm39) M1103V probably benign Het
Niban2 C A 2: 32,812,590 (GRCm39) Y446* probably null Het
Or2y1e T A 11: 49,219,124 (GRCm39) D295E probably benign Het
Or5e1 T C 7: 108,354,612 (GRCm39) L183P probably damaging Het
Or6z3 A T 7: 6,463,753 (GRCm39) M82L probably benign Het
Osbpl3 A T 6: 50,329,764 (GRCm39) D88E possibly damaging Het
Pou1f1 C T 16: 65,328,728 (GRCm39) T149I probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Rcor1 A G 12: 111,063,986 (GRCm39) D95G probably damaging Het
Rttn T C 18: 89,119,809 (GRCm39) L1748P probably damaging Het
Slco2a1 A G 9: 102,963,031 (GRCm39) K629E possibly damaging Het
Smarcc1 A G 9: 109,964,696 (GRCm39) probably benign Het
Son A G 16: 91,472,397 (GRCm39) K360E probably benign Het
Stab1 A T 14: 30,865,629 (GRCm39) M1753K probably benign Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tmem63c A T 12: 87,133,192 (GRCm39) T736S possibly damaging Het
Tmprss11a G T 5: 86,570,432 (GRCm39) Q176K probably damaging Het
Trappc4 A G 9: 44,315,322 (GRCm39) S219P probably damaging Het
Vmn2r117 G T 17: 23,696,859 (GRCm39) P183T probably damaging Het
Vmn2r54 C T 7: 12,363,598 (GRCm39) V432I probably benign Het
Vtcn1 G A 3: 100,799,909 (GRCm39) G257R probably benign Het
Yipf1 T A 4: 107,202,288 (GRCm39) M217K possibly damaging Het
Zfc3h1 T C 10: 115,236,647 (GRCm39) S374P probably benign Het
Zfp407 T C 18: 84,577,828 (GRCm39) H1095R probably benign Het
Zfp661 A T 2: 127,420,564 (GRCm39) H78Q probably benign Het
Zfp957 T C 14: 79,450,849 (GRCm39) T317A unknown Het
Zfyve9 T A 4: 108,584,688 (GRCm39) probably null Het
Other mutations in Tmpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Tmpo APN 10 91,000,068 (GRCm39) splice site probably benign
IGL00791:Tmpo APN 10 90,998,420 (GRCm39) missense possibly damaging 0.94
IGL00919:Tmpo APN 10 90,998,662 (GRCm39) missense probably damaging 0.99
IGL01382:Tmpo APN 10 91,001,912 (GRCm39) missense probably damaging 1.00
IGL01806:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
IGL01813:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
IGL01838:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
IGL01952:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
IGL02110:Tmpo APN 10 90,998,727 (GRCm39) missense probably damaging 1.00
IGL02122:Tmpo APN 10 90,999,998 (GRCm39) missense possibly damaging 0.77
IGL02191:Tmpo APN 10 90,997,741 (GRCm39) missense probably benign 0.00
IGL02338:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
PIT4366001:Tmpo UTSW 10 90,999,172 (GRCm39) missense probably damaging 1.00
PIT4544001:Tmpo UTSW 10 90,997,976 (GRCm39) missense probably benign
R0133:Tmpo UTSW 10 90,999,900 (GRCm39) splice site probably benign
R0450:Tmpo UTSW 10 90,998,958 (GRCm39) missense probably benign 0.45
R0469:Tmpo UTSW 10 90,998,958 (GRCm39) missense probably benign 0.45
R0836:Tmpo UTSW 10 90,997,815 (GRCm39) nonsense probably null
R2405:Tmpo UTSW 10 90,999,216 (GRCm39) missense probably damaging 1.00
R2919:Tmpo UTSW 10 90,988,548 (GRCm39) missense probably benign 0.23
R4059:Tmpo UTSW 10 90,998,123 (GRCm39) missense probably benign 0.00
R4296:Tmpo UTSW 10 90,998,818 (GRCm39) missense possibly damaging 0.49
R4741:Tmpo UTSW 10 90,998,506 (GRCm39) missense probably benign 0.18
R4915:Tmpo UTSW 10 90,985,411 (GRCm39) missense probably damaging 1.00
R4917:Tmpo UTSW 10 90,985,411 (GRCm39) missense probably damaging 1.00
R4960:Tmpo UTSW 10 90,989,171 (GRCm39) missense probably damaging 1.00
R5002:Tmpo UTSW 10 90,999,976 (GRCm39) missense possibly damaging 0.76
R5301:Tmpo UTSW 10 90,985,650 (GRCm39) intron probably benign
R6167:Tmpo UTSW 10 90,998,800 (GRCm39) missense probably benign
R6190:Tmpo UTSW 10 91,000,069 (GRCm39) splice site probably null
R6979:Tmpo UTSW 10 90,988,359 (GRCm39) splice site probably null
R7880:Tmpo UTSW 10 91,001,892 (GRCm39) nonsense probably null
R8343:Tmpo UTSW 10 90,997,974 (GRCm39) missense probably benign 0.00
R8492:Tmpo UTSW 10 90,997,720 (GRCm39) missense probably benign 0.04
R8870:Tmpo UTSW 10 90,987,581 (GRCm39) missense probably damaging 1.00
R9088:Tmpo UTSW 10 90,989,138 (GRCm39) critical splice donor site probably null
R9328:Tmpo UTSW 10 90,998,825 (GRCm39) missense probably damaging 1.00
R9598:Tmpo UTSW 10 90,994,608 (GRCm39) critical splice donor site probably null
Z1177:Tmpo UTSW 10 90,998,722 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- AAAGACGGCTCTGAGGCTTC -3'
(R):5'- TGGCGTGTCAGATCAGTCAG -3'

Sequencing Primer
(F):5'- GACGGCTCTGAGGCTTCTATTTTATC -3'
(R):5'- AGAGGTCGCAGGTCATTTCTCC -3'
Posted On 2016-03-17