Incidental Mutation 'IGL03229:Tor2a'
ID 413817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tor2a
Ensembl Gene ENSMUSG00000009563
Gene Name torsin family 2, member A
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.390) question?
Stock # IGL03229
Quality Score
Status
Chromosome 2
Chromosomal Location 32647289-32652256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32649704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 189 (I189F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009707] [ENSMUST00000066478] [ENSMUST00000074248] [ENSMUST00000091059] [ENSMUST00000113242] [ENSMUST00000177382] [ENSMUST00000175763] [ENSMUST00000156617] [ENSMUST00000161430] [ENSMUST00000161950] [ENSMUST00000161089] [ENSMUST00000125891]
AlphaFold Q8R1J9
Predicted Effect possibly damaging
Transcript: ENSMUST00000009707
AA Change: I195F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000009707
Gene: ENSMUSG00000009563
AA Change: I195F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Torsin 35 160 1.2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066478
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074248
SMART Domains Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 11 18 N/A INTRINSIC
low complexity region 22 43 N/A INTRINSIC
low complexity region 86 98 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
low complexity region 190 207 N/A INTRINSIC
SH2 213 301 7.8e-21 SMART
low complexity region 333 348 N/A INTRINSIC
low complexity region 400 415 N/A INTRINSIC
low complexity region 422 436 N/A INTRINSIC
low complexity region 474 487 N/A INTRINSIC
RasGEF 576 849 8.18e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091059
SMART Domains Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 75 108 2.26e-3 SMART
TPR 109 142 4.09e-1 SMART
TPR 150 183 8.3e-2 SMART
TPR 218 251 4.44e1 SMART
TPR 265 298 3.69e1 SMART
TPR 299 332 1.08e1 SMART
Blast:TPR 345 378 2e-10 BLAST
TPR 379 412 1.02e-1 SMART
TPR 420 453 7.27e0 SMART
Blast:TPR 454 487 2e-12 BLAST
low complexity region 631 644 N/A INTRINSIC
low complexity region 666 679 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113242
SMART Domains Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
SH2 61 149 7.8e-21 SMART
low complexity region 181 196 N/A INTRINSIC
low complexity region 248 263 N/A INTRINSIC
low complexity region 270 284 N/A INTRINSIC
low complexity region 322 335 N/A INTRINSIC
RasGEF 424 697 8.18e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123624
Predicted Effect probably damaging
Transcript: ENSMUST00000140999
AA Change: I189F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149987
Predicted Effect probably benign
Transcript: ENSMUST00000177382
SMART Domains Protein: ENSMUSP00000134968
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Torsin 35 101 1.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175763
SMART Domains Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156617
SMART Domains Protein: ENSMUSP00000122251
Gene: ENSMUSG00000009563

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161430
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 75 108 2.26e-3 SMART
TPR 109 142 4.09e-1 SMART
TPR 150 183 8.3e-2 SMART
TPR 218 251 4.44e1 SMART
TPR 265 298 3.69e1 SMART
TPR 299 332 1.08e1 SMART
Blast:TPR 345 378 2e-10 BLAST
TPR 379 412 1.02e-1 SMART
TPR 420 453 7.27e0 SMART
Blast:TPR 454 487 2e-12 BLAST
low complexity region 596 611 N/A INTRINSIC
low complexity region 622 634 N/A INTRINSIC
low complexity region 686 697 N/A INTRINSIC
low complexity region 782 807 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161950
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161089
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125891
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,990,936 (GRCm39) I832T probably damaging Het
Adcyap1r1 T C 6: 55,455,108 (GRCm39) S124P probably damaging Het
Ccn3 A G 15: 54,612,704 (GRCm39) T238A probably benign Het
Coq4 A G 2: 29,678,497 (GRCm39) D41G probably benign Het
Cpb1 A T 3: 20,304,001 (GRCm39) Y354* probably null Het
Dip2b T C 15: 100,105,719 (GRCm39) probably benign Het
Dmxl2 C T 9: 54,311,456 (GRCm39) R1755H probably damaging Het
Dyrk4 G T 6: 126,863,605 (GRCm39) probably benign Het
E2f7 T C 10: 110,590,207 (GRCm39) V120A probably benign Het
Fsip2 A T 2: 82,808,420 (GRCm39) I1580F possibly damaging Het
Gm9755 C A 8: 67,967,324 (GRCm39) noncoding transcript Het
Gprc6a T G 10: 51,492,699 (GRCm39) N480T probably damaging Het
H2ac20 C T 3: 96,127,953 (GRCm39) A70T probably damaging Het
H2-T9 C T 17: 36,438,614 (GRCm39) G259E probably damaging Het
Hdlbp T C 1: 93,357,909 (GRCm39) I331V probably benign Het
Heatr6 G T 11: 83,672,271 (GRCm39) G1093V probably benign Het
Kri1 T C 9: 21,193,366 (GRCm39) E162G probably damaging Het
Nckipsd T C 9: 108,688,813 (GRCm39) V116A probably benign Het
Nek10 A G 14: 14,986,686 (GRCm38) H997R probably benign Het
Nxph1 A G 6: 9,247,830 (GRCm39) Y267C probably damaging Het
Or14a256 T C 7: 86,265,286 (GRCm39) D189G probably benign Het
Or8k40 A T 2: 86,584,360 (GRCm39) C241S probably damaging Het
Ppip5k2 A T 1: 97,656,686 (GRCm39) V829E probably damaging Het
Prkcz A C 4: 155,346,963 (GRCm39) S573A probably benign Het
Prl2c1 T A 13: 28,040,612 (GRCm39) probably benign Het
Rgs22 T A 15: 36,015,925 (GRCm39) probably benign Het
Scn1a T A 2: 66,130,057 (GRCm39) I1253F probably damaging Het
Tarm1 A G 7: 3,545,413 (GRCm39) C146R probably damaging Het
Trappc9 A T 15: 72,930,305 (GRCm39) L17Q probably damaging Het
Trim45 T A 3: 100,830,385 (GRCm39) L53Q probably damaging Het
Ubr7 T C 12: 102,735,414 (GRCm39) L291P probably damaging Het
Unc79 T C 12: 103,100,798 (GRCm39) V1878A probably damaging Het
Wdr90 T C 17: 26,064,437 (GRCm39) probably benign Het
Xpnpep1 T C 19: 53,013,811 (GRCm39) H42R probably benign Het
Zfp750 G A 11: 121,403,778 (GRCm39) H366Y possibly damaging Het
Zmynd11 A G 13: 9,739,601 (GRCm39) C462R probably damaging Het
Other mutations in Tor2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Tor2a APN 2 32,649,558 (GRCm39) missense probably damaging 0.99
IGL01551:Tor2a APN 2 32,650,595 (GRCm39) intron probably benign
IGL02995:Tor2a APN 2 32,651,509 (GRCm39) missense possibly damaging 0.83
IGL03001:Tor2a APN 2 32,647,329 (GRCm39) missense possibly damaging 0.66
R0234:Tor2a UTSW 2 32,648,716 (GRCm39) missense probably damaging 1.00
R0234:Tor2a UTSW 2 32,648,716 (GRCm39) missense probably damaging 1.00
R1964:Tor2a UTSW 2 32,648,716 (GRCm39) missense probably damaging 1.00
R4370:Tor2a UTSW 2 32,648,870 (GRCm39) missense probably benign
R4837:Tor2a UTSW 2 32,650,609 (GRCm39) missense probably damaging 1.00
R5539:Tor2a UTSW 2 32,650,672 (GRCm39) missense probably damaging 1.00
R5851:Tor2a UTSW 2 32,651,619 (GRCm39) missense probably benign 0.01
R5908:Tor2a UTSW 2 32,651,697 (GRCm39) missense probably damaging 1.00
R8393:Tor2a UTSW 2 32,651,648 (GRCm39) missense probably benign 0.01
R8903:Tor2a UTSW 2 32,651,699 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02