Incidental Mutation 'R1146:Tor1aip2'
ID 165090
Institutional Source Beutler Lab
Gene Symbol Tor1aip2
Ensembl Gene ENSMUSG00000050565
Gene Name torsin A interacting protein 2
Synonyms 15kDa, 1110020D10Rik, Ifrg15, LULL1
MMRRC Submission 039219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R1146 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 155911410-155944607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155940483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 263 (V263A)
Ref Sequence ENSEMBL: ENSMUSP00000107387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060404] [ENSMUST00000111757]
AlphaFold Q8BYU6
Predicted Effect possibly damaging
Transcript: ENSMUST00000060404
AA Change: V263A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050817
Gene: ENSMUSG00000050565
AA Change: V263A

DomainStartEndE-ValueType
Pfam:LAP1C 26 501 3.9e-222 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111757
AA Change: V263A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107387
Gene: ENSMUSG00000050565
AA Change: V263A

DomainStartEndE-ValueType
Pfam:LAP1C 26 501 3.9e-169 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125371
Meta Mutation Damage Score 0.3902 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.5%
  • 10x: 95.4%
  • 20x: 88.7%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,679,795 (GRCm39) V1848E probably damaging Het
Alpk3 A G 7: 80,727,343 (GRCm39) K158E probably damaging Het
Arrdc4 T A 7: 68,389,756 (GRCm39) E356D probably damaging Het
Asb4 A G 6: 5,423,591 (GRCm39) N246S probably damaging Het
Ccdc150 A T 1: 54,404,130 (GRCm39) probably benign Het
Ctsj G A 13: 61,150,312 (GRCm39) P230L probably benign Het
Dync1i2 C T 2: 71,058,164 (GRCm39) probably benign Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Frg1 A G 8: 41,864,254 (GRCm39) probably benign Het
Fzd2 A T 11: 102,496,206 (GRCm39) S217C possibly damaging Het
Gaa G T 11: 119,165,730 (GRCm39) R81L probably damaging Het
Gfral A G 9: 76,074,341 (GRCm39) V368A probably benign Het
Gm10774 T C 2: 126,551,392 (GRCm39) Y29C probably benign Het
Gucy1a2 T A 9: 3,759,830 (GRCm39) N545K probably damaging Het
Herc2 T C 7: 55,796,444 (GRCm39) S1939P probably benign Het
Ifnk T C 4: 35,152,231 (GRCm39) I53T probably benign Het
Iqub G A 6: 24,505,627 (GRCm39) L94F possibly damaging Het
Kpna1 C T 16: 35,853,749 (GRCm39) R460* probably null Het
Masp1 T C 16: 23,310,865 (GRCm39) E189G probably damaging Het
Mogat1 A G 1: 78,500,250 (GRCm39) I105V probably benign Het
Mpi A G 9: 57,452,472 (GRCm39) probably benign Het
Msh2 C A 17: 87,987,488 (GRCm39) D209E probably benign Het
Nsf G A 11: 103,719,364 (GRCm39) T646I probably damaging Het
Or10g9b A T 9: 39,917,390 (GRCm39) V285D possibly damaging Het
Or4c10b C T 2: 89,711,550 (GRCm39) P127S probably damaging Het
Or5b24 T A 19: 12,912,329 (GRCm39) S76T possibly damaging Het
Or6b2 G A 1: 92,407,612 (GRCm39) H244Y probably damaging Het
Otogl T A 10: 107,722,374 (GRCm39) I327F probably damaging Het
Pappa2 T C 1: 158,682,552 (GRCm39) D832G probably damaging Het
Pax5 G T 4: 44,697,512 (GRCm39) probably benign Het
Pfkfb4 A G 9: 108,836,794 (GRCm39) E163G probably benign Het
Phc1 T C 6: 122,300,416 (GRCm39) probably benign Het
Piwil1 T C 5: 128,824,957 (GRCm39) S552P probably benign Het
Ppfia3 A C 7: 45,001,639 (GRCm39) D424E probably benign Het
Prss16 A G 13: 22,191,138 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn A G 6: 92,178,711 (GRCm39) probably null Het
Rexo1 C T 10: 80,380,239 (GRCm39) S919N probably benign Het
Sec31a T C 5: 100,510,032 (GRCm39) N1152D probably damaging Het
Sel1l3 A T 5: 53,274,445 (GRCm39) F1012I possibly damaging Het
Sema4c A G 1: 36,589,646 (GRCm39) V539A probably benign Het
Sf3b5 A G 10: 12,884,575 (GRCm39) E70G possibly damaging Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,285,493 (GRCm39) probably benign Het
Unc45b A G 11: 82,813,733 (GRCm39) E380G probably damaging Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Zfp110 A G 7: 12,580,721 (GRCm39) probably null Het
Zfp335 G A 2: 164,738,043 (GRCm39) A856V probably benign Het
Zfp652 G A 11: 95,640,608 (GRCm39) E178K possibly damaging Het
Other mutations in Tor1aip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Tor1aip2 APN 1 155,935,285 (GRCm39) missense probably benign 0.05
IGL02175:Tor1aip2 APN 1 155,940,752 (GRCm39) missense probably damaging 0.96
IGL02328:Tor1aip2 APN 1 155,940,720 (GRCm39) missense probably damaging 0.98
R0143:Tor1aip2 UTSW 1 155,935,294 (GRCm39) missense probably benign 0.06
R1037:Tor1aip2 UTSW 1 155,941,082 (GRCm39) missense probably benign 0.00
R1146:Tor1aip2 UTSW 1 155,940,483 (GRCm39) missense possibly damaging 0.51
R1694:Tor1aip2 UTSW 1 155,941,031 (GRCm39) missense probably benign
R1922:Tor1aip2 UTSW 1 155,940,540 (GRCm39) missense probably damaging 1.00
R1955:Tor1aip2 UTSW 1 155,927,588 (GRCm39) intron probably benign
R2131:Tor1aip2 UTSW 1 155,941,095 (GRCm39) missense probably damaging 0.97
R3758:Tor1aip2 UTSW 1 155,941,035 (GRCm39) missense probably damaging 0.98
R4243:Tor1aip2 UTSW 1 155,941,182 (GRCm39) missense probably damaging 0.98
R4583:Tor1aip2 UTSW 1 155,940,888 (GRCm39) missense probably benign 0.01
R4678:Tor1aip2 UTSW 1 155,940,780 (GRCm39) missense probably damaging 0.99
R5564:Tor1aip2 UTSW 1 155,939,307 (GRCm39) unclassified probably benign
R6316:Tor1aip2 UTSW 1 155,937,840 (GRCm39) missense probably damaging 0.99
R6713:Tor1aip2 UTSW 1 155,941,155 (GRCm39) missense probably damaging 0.99
R6892:Tor1aip2 UTSW 1 155,940,927 (GRCm39) missense possibly damaging 0.95
R7137:Tor1aip2 UTSW 1 155,927,722 (GRCm39) missense possibly damaging 0.82
R8137:Tor1aip2 UTSW 1 155,939,414 (GRCm39) missense possibly damaging 0.93
R9456:Tor1aip2 UTSW 1 155,937,525 (GRCm39) missense possibly damaging 0.59
Z1176:Tor1aip2 UTSW 1 155,927,935 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- GGAACTGGGCATTGCCAGTAACAC -3'
(R):5'- GGCCATTCTCAAACCCATCGCTAAG -3'

Sequencing Primer
(F):5'- ACACTGGATAGGAAACTGCTTC -3'
(R):5'- AACCAGCAGCTTGACTGTG -3'
Posted On 2014-03-28