Incidental Mutation 'IGL03372:Tsc2'
ID 420361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsc2
Ensembl Gene ENSMUSG00000002496
Gene Name tuberous sclerosis 2
Synonyms tuberin, Nafld
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03372
Quality Score
Status
Chromosome 17
Chromosomal Location 24595816-24632630 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24619470 bp (GRCm38)
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 noncoding transcript
Transcript: ENSMUST00000227754
Predicted Effect probably damaging
Transcript: ENSMUST00000228412
AA Change: L515R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 130,017,569 (GRCm38) A1161V probably benign Het
Alpi A G 1: 87,100,628 (GRCm38) probably benign Het
Asxl1 A T 2: 153,400,413 (GRCm38) N961I probably damaging Het
Bcl2l10 A G 9: 75,348,047 (GRCm38) I49V probably benign Het
Bod1l T C 5: 41,805,235 (GRCm38) probably benign Het
Ccl20 A G 1: 83,117,876 (GRCm38) M54V probably benign Het
Cep72 A C 13: 74,043,518 (GRCm38) L200V possibly damaging Het
Clic4 T C 4: 135,218,614 (GRCm38) D164G probably damaging Het
Col5a3 G A 9: 20,775,328 (GRCm38) P1334S unknown Het
Dab2 T C 15: 6,429,549 (GRCm38) L293P probably damaging Het
Ddx50 A T 10: 62,643,330 (GRCm38) S140T probably benign Het
Dnah6 A T 6: 73,075,850 (GRCm38) M2897K probably benign Het
Dnmt3a A G 12: 3,902,666 (GRCm38) E721G probably damaging Het
Esyt3 A T 9: 99,336,056 (GRCm38) probably benign Het
Fat4 G T 3: 38,889,134 (GRCm38) K725N possibly damaging Het
Fezf1 T C 6: 23,246,910 (GRCm38) I308V probably damaging Het
Fut2 C T 7: 45,650,769 (GRCm38) G193E possibly damaging Het
Gapdhs T C 7: 30,733,249 (GRCm38) probably benign Het
Gm10109 A T 7: 44,221,702 (GRCm38) probably benign Het
Gpd2 G A 2: 57,355,507 (GRCm38) V405I probably damaging Het
Gtf2e1 T C 16: 37,535,715 (GRCm38) probably benign Het
Iqca A G 1: 90,144,969 (GRCm38) I63T possibly damaging Het
Kcmf1 A C 6: 72,849,563 (GRCm38) L161R probably damaging Het
Kif19a G T 11: 114,779,218 (GRCm38) V80L probably damaging Het
Kif21a A T 15: 90,956,376 (GRCm38) M1179K probably benign Het
Krtap19-2 A G 16: 88,873,886 (GRCm38) probably benign Het
Ksr2 T A 5: 117,702,718 (GRCm38) I575N possibly damaging Het
L3mbtl1 A T 2: 162,971,157 (GRCm38) probably benign Het
Larp1b A T 3: 41,024,527 (GRCm38) H6L possibly damaging Het
Map4k2 T A 19: 6,342,249 (GRCm38) probably benign Het
Mdh1b T C 1: 63,719,995 (GRCm38) H146R possibly damaging Het
Morc2a T C 11: 3,681,813 (GRCm38) probably benign Het
Mvd A G 8: 122,443,374 (GRCm38) probably benign Het
Myo7b C T 18: 31,998,601 (GRCm38) S514N probably damaging Het
Nav1 A T 1: 135,450,903 (GRCm38) I1610K probably damaging Het
Nbas T C 12: 13,534,472 (GRCm38) L2095P probably damaging Het
Nrros T C 16: 32,144,770 (GRCm38) N115S probably damaging Het
Olfr472 T C 7: 107,903,370 (GRCm38) Y218H probably damaging Het
Otud6b A C 4: 14,812,519 (GRCm38) I276R possibly damaging Het
P2rx6 G A 16: 17,567,492 (GRCm38) E150K probably damaging Het
Pan2 T A 10: 128,315,127 (GRCm38) L771Q probably benign Het
Pbrm1 T A 14: 31,085,019 (GRCm38) N1087K probably benign Het
Pcdhb5 G T 18: 37,320,660 (GRCm38) R31L probably benign Het
Proser3 A C 7: 30,543,568 (GRCm38) S195A probably damaging Het
Rad50 T C 11: 53,695,294 (GRCm38) K292E probably benign Het
Rbm27 G A 18: 42,305,716 (GRCm38) R394H probably damaging Het
Samd9l A G 6: 3,375,314 (GRCm38) I649T probably damaging Het
Skint3 G A 4: 112,255,906 (GRCm38) probably benign Het
Slc4a4 T A 5: 89,156,426 (GRCm38) L576Q probably damaging Het
Snx2 A G 18: 53,216,391 (GRCm38) D408G probably damaging Het
Taar2 T C 10: 23,941,171 (GRCm38) V203A probably benign Het
Tdrd6 C T 17: 43,625,568 (GRCm38) V1530M probably damaging Het
Unc13a A T 8: 71,655,709 (GRCm38) M500K probably damaging Het
Vmn1r75 A G 7: 11,880,569 (GRCm38) D76G probably benign Het
Whrn T C 4: 63,418,618 (GRCm38) D127G probably damaging Het
Other mutations in Tsc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Tsc2 APN 17 24,608,107 (GRCm38) missense probably damaging 1.00
IGL00985:Tsc2 APN 17 24,597,131 (GRCm38) missense probably damaging 1.00
IGL01386:Tsc2 APN 17 24,613,285 (GRCm38) missense probably damaging 1.00
IGL01468:Tsc2 APN 17 24,621,097 (GRCm38) missense possibly damaging 0.90
IGL01530:Tsc2 APN 17 24,622,662 (GRCm38) missense possibly damaging 0.76
IGL02390:Tsc2 APN 17 24,600,453 (GRCm38) missense probably damaging 1.00
IGL02398:Tsc2 APN 17 24,621,729 (GRCm38) missense probably damaging 1.00
IGL02741:Tsc2 APN 17 24,629,969 (GRCm38) missense probably damaging 1.00
IGL03191:Tsc2 APN 17 24,628,054 (GRCm38) missense probably damaging 1.00
IGL03412:Tsc2 APN 17 24,597,068 (GRCm38) missense probably damaging 0.98
Twitch UTSW 17 24,596,742 (GRCm38) splice site probably null
PIT4515001:Tsc2 UTSW 17 24,621,147 (GRCm38) missense probably benign 0.15
R0025:Tsc2 UTSW 17 24,631,004 (GRCm38) splice site probably benign
R0025:Tsc2 UTSW 17 24,631,004 (GRCm38) splice site probably benign
R0138:Tsc2 UTSW 17 24,599,626 (GRCm38) missense possibly damaging 0.65
R0540:Tsc2 UTSW 17 24,621,712 (GRCm38) missense probably damaging 1.00
R0570:Tsc2 UTSW 17 24,626,727 (GRCm38) missense probably damaging 1.00
R0607:Tsc2 UTSW 17 24,621,712 (GRCm38) missense probably damaging 1.00
R0826:Tsc2 UTSW 17 24,596,958 (GRCm38) missense probably benign 0.04
R1430:Tsc2 UTSW 17 24,599,023 (GRCm38) critical splice donor site probably null
R1440:Tsc2 UTSW 17 24,614,392 (GRCm38) missense probably damaging 1.00
R1466:Tsc2 UTSW 17 24,608,973 (GRCm38) missense probably damaging 1.00
R1466:Tsc2 UTSW 17 24,608,973 (GRCm38) missense probably damaging 1.00
R1541:Tsc2 UTSW 17 24,631,976 (GRCm38) missense probably damaging 1.00
R1717:Tsc2 UTSW 17 24,597,068 (GRCm38) missense probably damaging 0.98
R1799:Tsc2 UTSW 17 24,604,408 (GRCm38) missense probably benign
R2030:Tsc2 UTSW 17 24,623,470 (GRCm38) splice site probably benign
R2147:Tsc2 UTSW 17 24,621,142 (GRCm38) missense possibly damaging 0.62
R2888:Tsc2 UTSW 17 24,631,995 (GRCm38) critical splice donor site probably null
R3609:Tsc2 UTSW 17 24,622,550 (GRCm38) missense possibly damaging 0.74
R3610:Tsc2 UTSW 17 24,622,550 (GRCm38) missense possibly damaging 0.74
R3811:Tsc2 UTSW 17 24,629,037 (GRCm38) missense probably benign 0.09
R3895:Tsc2 UTSW 17 24,599,812 (GRCm38) missense probably damaging 1.00
R3962:Tsc2 UTSW 17 24,621,166 (GRCm38) splice site probably benign
R3971:Tsc2 UTSW 17 24,623,588 (GRCm38) missense probably damaging 1.00
R4018:Tsc2 UTSW 17 24,625,281 (GRCm38) missense probably damaging 0.99
R4184:Tsc2 UTSW 17 24,632,016 (GRCm38) missense probably benign 0.43
R4435:Tsc2 UTSW 17 24,599,713 (GRCm38) missense probably benign 0.01
R4437:Tsc2 UTSW 17 24,599,713 (GRCm38) missense probably benign 0.01
R4474:Tsc2 UTSW 17 24,597,264 (GRCm38) missense probably damaging 0.98
R4703:Tsc2 UTSW 17 24,604,909 (GRCm38) missense probably benign 0.13
R4731:Tsc2 UTSW 17 24,603,275 (GRCm38) missense possibly damaging 0.72
R4732:Tsc2 UTSW 17 24,603,275 (GRCm38) missense possibly damaging 0.72
R4733:Tsc2 UTSW 17 24,603,275 (GRCm38) missense possibly damaging 0.72
R4817:Tsc2 UTSW 17 24,596,742 (GRCm38) splice site probably null
R4890:Tsc2 UTSW 17 24,600,035 (GRCm38) missense probably damaging 1.00
R4922:Tsc2 UTSW 17 24,600,369 (GRCm38) missense probably benign 0.22
R5119:Tsc2 UTSW 17 24,603,280 (GRCm38) missense probably benign 0.00
R5393:Tsc2 UTSW 17 24,600,396 (GRCm38) missense possibly damaging 0.89
R5785:Tsc2 UTSW 17 24,599,887 (GRCm38) splice site probably null
R5838:Tsc2 UTSW 17 24,613,216 (GRCm38) missense probably benign 0.01
R5857:Tsc2 UTSW 17 24,600,007 (GRCm38) missense probably damaging 0.99
R5911:Tsc2 UTSW 17 24,600,387 (GRCm38) missense possibly damaging 0.63
R5988:Tsc2 UTSW 17 24,620,766 (GRCm38) missense probably damaging 1.00
R6275:Tsc2 UTSW 17 24,600,420 (GRCm38) missense probably benign 0.00
R6290:Tsc2 UTSW 17 24,596,910 (GRCm38) missense probably benign 0.04
R6371:Tsc2 UTSW 17 24,626,714 (GRCm38) missense probably benign 0.00
R6467:Tsc2 UTSW 17 24,609,127 (GRCm38) missense probably benign 0.04
R6577:Tsc2 UTSW 17 24,610,499 (GRCm38) missense probably damaging 1.00
R6728:Tsc2 UTSW 17 24,621,124 (GRCm38) missense probably damaging 1.00
R6918:Tsc2 UTSW 17 24,613,229 (GRCm38) missense probably damaging 1.00
R6995:Tsc2 UTSW 17 24,628,054 (GRCm38) missense probably damaging 1.00
R7026:Tsc2 UTSW 17 24,626,739 (GRCm38) missense probably damaging 0.99
R7136:Tsc2 UTSW 17 24,613,280 (GRCm38) missense probably benign 0.00
R7236:Tsc2 UTSW 17 24,623,594 (GRCm38) missense possibly damaging 0.82
R7243:Tsc2 UTSW 17 24,599,630 (GRCm38) missense probably benign 0.02
R7249:Tsc2 UTSW 17 24,607,755 (GRCm38) missense probably damaging 1.00
R7450:Tsc2 UTSW 17 24,600,031 (GRCm38) missense probably damaging 1.00
R7522:Tsc2 UTSW 17 24,630,965 (GRCm38) missense probably damaging 1.00
R7529:Tsc2 UTSW 17 24,597,948 (GRCm38) missense probably damaging 0.98
R7637:Tsc2 UTSW 17 24,607,492 (GRCm38) missense probably benign 0.13
R7781:Tsc2 UTSW 17 24,608,115 (GRCm38) missense possibly damaging 0.52
R8005:Tsc2 UTSW 17 24,599,596 (GRCm38) missense probably damaging 0.98
R8262:Tsc2 UTSW 17 24,614,366 (GRCm38) missense probably benign 0.06
R8268:Tsc2 UTSW 17 24,600,010 (GRCm38) missense probably benign 0.44
R8400:Tsc2 UTSW 17 24,604,987 (GRCm38) missense possibly damaging 0.62
R9020:Tsc2 UTSW 17 24,626,717 (GRCm38) missense probably damaging 0.99
R9039:Tsc2 UTSW 17 24,607,515 (GRCm38) missense probably benign 0.01
R9065:Tsc2 UTSW 17 24,603,190 (GRCm38) missense probably benign 0.39
R9123:Tsc2 UTSW 17 24,604,828 (GRCm38) missense probably null 0.40
R9125:Tsc2 UTSW 17 24,604,828 (GRCm38) missense probably null 0.40
R9186:Tsc2 UTSW 17 24,604,888 (GRCm38) missense probably damaging 1.00
R9390:Tsc2 UTSW 17 24,604,850 (GRCm38) missense probably damaging 1.00
R9542:Tsc2 UTSW 17 24,600,334 (GRCm38) critical splice donor site probably null
R9721:Tsc2 UTSW 17 24,599,642 (GRCm38) nonsense probably null
Z1177:Tsc2 UTSW 17 24,620,779 (GRCm38) missense possibly damaging 0.61
Posted On 2016-08-02