Incidental Mutation 'IGL03372:Tsc2'
ID 420361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsc2
Ensembl Gene ENSMUSG00000002496
Gene Name TSC complex subunit 2
Synonyms tuberin, Nafld, tuberous sclerosis 2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03372
Quality Score
Status
Chromosome 17
Chromosomal Location 24814790-24851604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24838444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 515 (L515R)
Ref Sequence ENSEMBL: ENSMUSP00000154706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000226398] [ENSMUST00000227607] [ENSMUST00000227745] [ENSMUST00000228412]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000097373
AA Change: L515R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: L515R

DomainStartEndE-ValueType
Pfam:DUF3384 54 470 4e-103 PFAM
Pfam:Tuberin 555 903 5.9e-149 PFAM
low complexity region 1023 1054 N/A INTRINSIC
low complexity region 1271 1278 N/A INTRINSIC
low complexity region 1310 1328 N/A INTRINSIC
low complexity region 1330 1344 N/A INTRINSIC
low complexity region 1378 1398 N/A INTRINSIC
Pfam:Rap_GAP 1497 1685 1.3e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226242
Predicted Effect probably damaging
Transcript: ENSMUST00000226284
AA Change: L515R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000226398
AA Change: L515R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227607
AA Change: L456R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000227745
AA Change: L515R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000228412
AA Change: L515R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227754
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit liver hypoplasia, open neural tube, thickened myocardium and die by embryonic day 9.5-12.5. Heterozygotes develop renal cystadenomas, liver hemangiomas (sometimes resulting in fatal bleeding) and lung adenomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,911,362 (GRCm39) A1161V probably benign Het
Alpi A G 1: 87,028,350 (GRCm39) probably benign Het
Asxl1 A T 2: 153,242,333 (GRCm39) N961I probably damaging Het
Bcl2l10 A G 9: 75,255,329 (GRCm39) I49V probably benign Het
Bod1l T C 5: 41,962,578 (GRCm39) probably benign Het
Ccl20 A G 1: 83,095,597 (GRCm39) M54V probably benign Het
Cep72 A C 13: 74,191,637 (GRCm39) L200V possibly damaging Het
Clic4 T C 4: 134,945,925 (GRCm39) D164G probably damaging Het
Col5a3 G A 9: 20,686,624 (GRCm39) P1334S unknown Het
Dab2 T C 15: 6,459,030 (GRCm39) L293P probably damaging Het
Ddx50 A T 10: 62,479,109 (GRCm39) S140T probably benign Het
Dnah6 A T 6: 73,052,833 (GRCm39) M2897K probably benign Het
Dnmt3a A G 12: 3,952,666 (GRCm39) E721G probably damaging Het
Esyt3 A T 9: 99,218,109 (GRCm39) probably benign Het
Fat4 G T 3: 38,943,283 (GRCm39) K725N possibly damaging Het
Fezf1 T C 6: 23,246,909 (GRCm39) I308V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gapdhs T C 7: 30,432,674 (GRCm39) probably benign Het
Gm10109 A T 7: 43,871,126 (GRCm39) probably benign Het
Gpd2 G A 2: 57,245,519 (GRCm39) V405I probably damaging Het
Gtf2e1 T C 16: 37,356,077 (GRCm39) probably benign Het
Iqca1 A G 1: 90,072,691 (GRCm39) I63T possibly damaging Het
Kcmf1 A C 6: 72,826,546 (GRCm39) L161R probably damaging Het
Kif19a G T 11: 114,670,044 (GRCm39) V80L probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Krtap19-2 A G 16: 88,670,774 (GRCm39) probably benign Het
Ksr2 T A 5: 117,840,783 (GRCm39) I575N possibly damaging Het
L3mbtl1 A T 2: 162,813,077 (GRCm39) probably benign Het
Larp1b A T 3: 40,978,962 (GRCm39) H6L possibly damaging Het
Map4k2 T A 19: 6,392,279 (GRCm39) probably benign Het
Mdh1b T C 1: 63,759,154 (GRCm39) H146R possibly damaging Het
Morc2a T C 11: 3,631,813 (GRCm39) probably benign Het
Mvd A G 8: 123,170,113 (GRCm39) probably benign Het
Myo7b C T 18: 32,131,654 (GRCm39) S514N probably damaging Het
Nav1 A T 1: 135,378,641 (GRCm39) I1610K probably damaging Het
Nbas T C 12: 13,584,473 (GRCm39) L2095P probably damaging Het
Nrros T C 16: 31,963,588 (GRCm39) N115S probably damaging Het
Or5p52 T C 7: 107,502,577 (GRCm39) Y218H probably damaging Het
Otud6b A C 4: 14,812,519 (GRCm39) I276R possibly damaging Het
P2rx6 G A 16: 17,385,356 (GRCm39) E150K probably damaging Het
Pan2 T A 10: 128,150,996 (GRCm39) L771Q probably benign Het
Pbrm1 T A 14: 30,806,976 (GRCm39) N1087K probably benign Het
Pcdhb5 G T 18: 37,453,713 (GRCm39) R31L probably benign Het
Proser3 A C 7: 30,242,993 (GRCm39) S195A probably damaging Het
Rad50 T C 11: 53,586,121 (GRCm39) K292E probably benign Het
Rbm27 G A 18: 42,438,781 (GRCm39) R394H probably damaging Het
Samd9l A G 6: 3,375,314 (GRCm39) I649T probably damaging Het
Skint3 G A 4: 112,113,103 (GRCm39) probably benign Het
Slc4a4 T A 5: 89,304,285 (GRCm39) L576Q probably damaging Het
Snx2 A G 18: 53,349,463 (GRCm39) D408G probably damaging Het
Taar2 T C 10: 23,817,069 (GRCm39) V203A probably benign Het
Tdrd6 C T 17: 43,936,459 (GRCm39) V1530M probably damaging Het
Unc13a A T 8: 72,108,353 (GRCm39) M500K probably damaging Het
Vmn1r75 A G 7: 11,614,496 (GRCm39) D76G probably benign Het
Whrn T C 4: 63,336,855 (GRCm39) D127G probably damaging Het
Other mutations in Tsc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Tsc2 APN 17 24,827,081 (GRCm39) missense probably damaging 1.00
IGL00985:Tsc2 APN 17 24,816,105 (GRCm39) missense probably damaging 1.00
IGL01386:Tsc2 APN 17 24,832,259 (GRCm39) missense probably damaging 1.00
IGL01468:Tsc2 APN 17 24,840,071 (GRCm39) missense possibly damaging 0.90
IGL01530:Tsc2 APN 17 24,841,636 (GRCm39) missense possibly damaging 0.76
IGL02390:Tsc2 APN 17 24,819,427 (GRCm39) missense probably damaging 1.00
IGL02398:Tsc2 APN 17 24,840,703 (GRCm39) missense probably damaging 1.00
IGL02741:Tsc2 APN 17 24,848,943 (GRCm39) missense probably damaging 1.00
IGL03191:Tsc2 APN 17 24,847,028 (GRCm39) missense probably damaging 1.00
IGL03412:Tsc2 APN 17 24,816,042 (GRCm39) missense probably damaging 0.98
Twitch UTSW 17 24,815,716 (GRCm39) splice site probably null
PIT4515001:Tsc2 UTSW 17 24,840,121 (GRCm39) missense probably benign 0.15
R0025:Tsc2 UTSW 17 24,849,978 (GRCm39) splice site probably benign
R0025:Tsc2 UTSW 17 24,849,978 (GRCm39) splice site probably benign
R0138:Tsc2 UTSW 17 24,818,600 (GRCm39) missense possibly damaging 0.65
R0540:Tsc2 UTSW 17 24,840,686 (GRCm39) missense probably damaging 1.00
R0570:Tsc2 UTSW 17 24,845,701 (GRCm39) missense probably damaging 1.00
R0607:Tsc2 UTSW 17 24,840,686 (GRCm39) missense probably damaging 1.00
R0826:Tsc2 UTSW 17 24,815,932 (GRCm39) missense probably benign 0.04
R1430:Tsc2 UTSW 17 24,817,997 (GRCm39) critical splice donor site probably null
R1440:Tsc2 UTSW 17 24,833,366 (GRCm39) missense probably damaging 1.00
R1466:Tsc2 UTSW 17 24,827,947 (GRCm39) missense probably damaging 1.00
R1466:Tsc2 UTSW 17 24,827,947 (GRCm39) missense probably damaging 1.00
R1541:Tsc2 UTSW 17 24,850,950 (GRCm39) missense probably damaging 1.00
R1717:Tsc2 UTSW 17 24,816,042 (GRCm39) missense probably damaging 0.98
R1799:Tsc2 UTSW 17 24,823,382 (GRCm39) missense probably benign
R2030:Tsc2 UTSW 17 24,842,444 (GRCm39) splice site probably benign
R2147:Tsc2 UTSW 17 24,840,116 (GRCm39) missense possibly damaging 0.62
R2888:Tsc2 UTSW 17 24,850,969 (GRCm39) critical splice donor site probably null
R3609:Tsc2 UTSW 17 24,841,524 (GRCm39) missense possibly damaging 0.74
R3610:Tsc2 UTSW 17 24,841,524 (GRCm39) missense possibly damaging 0.74
R3811:Tsc2 UTSW 17 24,848,011 (GRCm39) missense probably benign 0.09
R3895:Tsc2 UTSW 17 24,818,786 (GRCm39) missense probably damaging 1.00
R3962:Tsc2 UTSW 17 24,840,140 (GRCm39) splice site probably benign
R3971:Tsc2 UTSW 17 24,842,562 (GRCm39) missense probably damaging 1.00
R4018:Tsc2 UTSW 17 24,844,255 (GRCm39) missense probably damaging 0.99
R4184:Tsc2 UTSW 17 24,850,990 (GRCm39) missense probably benign 0.43
R4435:Tsc2 UTSW 17 24,818,687 (GRCm39) missense probably benign 0.01
R4437:Tsc2 UTSW 17 24,818,687 (GRCm39) missense probably benign 0.01
R4474:Tsc2 UTSW 17 24,816,238 (GRCm39) missense probably damaging 0.98
R4703:Tsc2 UTSW 17 24,823,883 (GRCm39) missense probably benign 0.13
R4731:Tsc2 UTSW 17 24,822,249 (GRCm39) missense possibly damaging 0.72
R4732:Tsc2 UTSW 17 24,822,249 (GRCm39) missense possibly damaging 0.72
R4733:Tsc2 UTSW 17 24,822,249 (GRCm39) missense possibly damaging 0.72
R4817:Tsc2 UTSW 17 24,815,716 (GRCm39) splice site probably null
R4890:Tsc2 UTSW 17 24,819,009 (GRCm39) missense probably damaging 1.00
R4922:Tsc2 UTSW 17 24,819,343 (GRCm39) missense probably benign 0.22
R5119:Tsc2 UTSW 17 24,822,254 (GRCm39) missense probably benign 0.00
R5393:Tsc2 UTSW 17 24,819,370 (GRCm39) missense possibly damaging 0.89
R5785:Tsc2 UTSW 17 24,818,861 (GRCm39) splice site probably null
R5838:Tsc2 UTSW 17 24,832,190 (GRCm39) missense probably benign 0.01
R5857:Tsc2 UTSW 17 24,818,981 (GRCm39) missense probably damaging 0.99
R5911:Tsc2 UTSW 17 24,819,361 (GRCm39) missense possibly damaging 0.63
R5988:Tsc2 UTSW 17 24,839,740 (GRCm39) missense probably damaging 1.00
R6275:Tsc2 UTSW 17 24,819,394 (GRCm39) missense probably benign 0.00
R6290:Tsc2 UTSW 17 24,815,884 (GRCm39) missense probably benign 0.04
R6371:Tsc2 UTSW 17 24,845,688 (GRCm39) missense probably benign 0.00
R6467:Tsc2 UTSW 17 24,828,101 (GRCm39) missense probably benign 0.04
R6577:Tsc2 UTSW 17 24,829,473 (GRCm39) missense probably damaging 1.00
R6728:Tsc2 UTSW 17 24,840,098 (GRCm39) missense probably damaging 1.00
R6918:Tsc2 UTSW 17 24,832,203 (GRCm39) missense probably damaging 1.00
R6995:Tsc2 UTSW 17 24,847,028 (GRCm39) missense probably damaging 1.00
R7026:Tsc2 UTSW 17 24,845,713 (GRCm39) missense probably damaging 0.99
R7136:Tsc2 UTSW 17 24,832,254 (GRCm39) missense probably benign 0.00
R7236:Tsc2 UTSW 17 24,842,568 (GRCm39) missense possibly damaging 0.82
R7243:Tsc2 UTSW 17 24,818,604 (GRCm39) missense probably benign 0.02
R7249:Tsc2 UTSW 17 24,826,729 (GRCm39) missense probably damaging 1.00
R7450:Tsc2 UTSW 17 24,819,005 (GRCm39) missense probably damaging 1.00
R7522:Tsc2 UTSW 17 24,849,939 (GRCm39) missense probably damaging 1.00
R7529:Tsc2 UTSW 17 24,816,922 (GRCm39) missense probably damaging 0.98
R7637:Tsc2 UTSW 17 24,826,466 (GRCm39) missense probably benign 0.13
R7781:Tsc2 UTSW 17 24,827,089 (GRCm39) missense possibly damaging 0.52
R8005:Tsc2 UTSW 17 24,818,570 (GRCm39) missense probably damaging 0.98
R8262:Tsc2 UTSW 17 24,833,340 (GRCm39) missense probably benign 0.06
R8268:Tsc2 UTSW 17 24,818,984 (GRCm39) missense probably benign 0.44
R8400:Tsc2 UTSW 17 24,823,961 (GRCm39) missense possibly damaging 0.62
R9020:Tsc2 UTSW 17 24,845,691 (GRCm39) missense probably damaging 0.99
R9039:Tsc2 UTSW 17 24,826,489 (GRCm39) missense probably benign 0.01
R9065:Tsc2 UTSW 17 24,822,164 (GRCm39) missense probably benign 0.39
R9123:Tsc2 UTSW 17 24,823,802 (GRCm39) missense probably null 0.40
R9125:Tsc2 UTSW 17 24,823,802 (GRCm39) missense probably null 0.40
R9186:Tsc2 UTSW 17 24,823,862 (GRCm39) missense probably damaging 1.00
R9390:Tsc2 UTSW 17 24,823,824 (GRCm39) missense probably damaging 1.00
R9542:Tsc2 UTSW 17 24,819,308 (GRCm39) critical splice donor site probably null
R9721:Tsc2 UTSW 17 24,818,616 (GRCm39) nonsense probably null
Z1177:Tsc2 UTSW 17 24,839,753 (GRCm39) missense possibly damaging 0.61
Posted On 2016-08-02