Incidental Mutation 'IGL03372:Tsc2'
ID420361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsc2
Ensembl Gene ENSMUSG00000002496
Gene Nametuberous sclerosis 2
Synonymstuberin, Nafld
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03372
Quality Score
Status
Chromosome17
Chromosomal Location24595816-24632630 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 24619470 bp
ZygosityHeterozygous
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]
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 A1161V probably benign Het
Alpi A G 1: 87,100,628 probably benign Het
Asxl1 A T 2: 153,400,413 N961I probably damaging Het
Bcl2l10 A G 9: 75,348,047 I49V probably benign Het
Bod1l T C 5: 41,805,235 probably benign Het
Ccl20 A G 1: 83,117,876 M54V probably benign Het
Cep72 A C 13: 74,043,518 L200V possibly damaging Het
Clic4 T C 4: 135,218,614 D164G probably damaging Het
Col5a3 G A 9: 20,775,328 P1334S unknown Het
Dab2 T C 15: 6,429,549 L293P probably damaging Het
Ddx50 A T 10: 62,643,330 S140T probably benign Het
Dnah6 A T 6: 73,075,850 M2897K probably benign Het
Dnmt3a A G 12: 3,902,666 E721G probably damaging Het
Esyt3 A T 9: 99,336,056 probably benign Het
Fat4 G T 3: 38,889,134 K725N possibly damaging Het
Fezf1 T C 6: 23,246,910 I308V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gapdhs T C 7: 30,733,249 probably benign Het
Gm10109 A T 7: 44,221,702 probably benign Het
Gpd2 G A 2: 57,355,507 V405I probably damaging Het
Gtf2e1 T C 16: 37,535,715 probably benign Het
Iqca A G 1: 90,144,969 I63T possibly damaging Het
Kcmf1 A C 6: 72,849,563 L161R probably damaging Het
Kif19a G T 11: 114,779,218 V80L probably damaging Het
Kif21a A T 15: 90,956,376 M1179K probably benign Het
Krtap19-2 A G 16: 88,873,886 probably benign Het
Ksr2 T A 5: 117,702,718 I575N possibly damaging Het
L3mbtl1 A T 2: 162,971,157 probably benign Het
Larp1b A T 3: 41,024,527 H6L possibly damaging Het
Map4k2 T A 19: 6,342,249 probably benign Het
Mdh1b T C 1: 63,719,995 H146R possibly damaging Het
Morc2a T C 11: 3,681,813 probably benign Het
Mvd A G 8: 122,443,374 probably benign Het
Myo7b C T 18: 31,998,601 S514N probably damaging Het
Nav1 A T 1: 135,450,903 I1610K probably damaging Het
Nbas T C 12: 13,534,472 L2095P probably damaging Het
Nrros T C 16: 32,144,770 N115S probably damaging Het
Olfr472 T C 7: 107,903,370 Y218H probably damaging Het
Otud6b A C 4: 14,812,519 I276R possibly damaging Het
P2rx6 G A 16: 17,567,492 E150K probably damaging Het
Pan2 T A 10: 128,315,127 L771Q probably benign Het
Pbrm1 T A 14: 31,085,019 N1087K probably benign Het
Pcdhb5 G T 18: 37,320,660 R31L probably benign Het
Proser3 A C 7: 30,543,568 S195A probably damaging Het
Rad50 T C 11: 53,695,294 K292E probably benign Het
Rbm27 G A 18: 42,305,716 R394H probably damaging Het
Samd9l A G 6: 3,375,314 I649T probably damaging Het
Skint3 G A 4: 112,255,906 probably benign Het
Slc4a4 T A 5: 89,156,426 L576Q probably damaging Het
Snx2 A G 18: 53,216,391 D408G probably damaging Het
Taar2 T C 10: 23,941,171 V203A probably benign Het
Tdrd6 C T 17: 43,625,568 V1530M probably damaging Het
Unc13a A T 8: 71,655,709 M500K probably damaging Het
Vmn1r75 A G 7: 11,880,569 D76G probably benign Het
Whrn T C 4: 63,418,618 D127G probably damaging Het
Other mutations in Tsc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Tsc2 APN 17 24608107 missense probably damaging 1.00
IGL00985:Tsc2 APN 17 24597131 missense probably damaging 1.00
IGL01386:Tsc2 APN 17 24613285 missense probably damaging 1.00
IGL01468:Tsc2 APN 17 24621097 missense possibly damaging 0.90
IGL01530:Tsc2 APN 17 24622662 missense possibly damaging 0.76
IGL02390:Tsc2 APN 17 24600453 missense probably damaging 1.00
IGL02398:Tsc2 APN 17 24621729 missense probably damaging 1.00
IGL02741:Tsc2 APN 17 24629969 missense probably damaging 1.00
IGL03191:Tsc2 APN 17 24628054 missense probably damaging 1.00
IGL03412:Tsc2 APN 17 24597068 missense probably damaging 0.98
Twitch UTSW 17 24596742 unclassified probably null
PIT4515001:Tsc2 UTSW 17 24621147 missense probably benign 0.15
R0025:Tsc2 UTSW 17 24631004 splice site probably benign
R0025:Tsc2 UTSW 17 24631004 splice site probably benign
R0138:Tsc2 UTSW 17 24599626 missense possibly damaging 0.65
R0540:Tsc2 UTSW 17 24621712 missense probably damaging 1.00
R0570:Tsc2 UTSW 17 24626727 missense probably damaging 1.00
R0607:Tsc2 UTSW 17 24621712 missense probably damaging 1.00
R0826:Tsc2 UTSW 17 24596958 missense probably benign 0.04
R1430:Tsc2 UTSW 17 24599023 critical splice donor site probably null
R1440:Tsc2 UTSW 17 24614392 missense probably damaging 1.00
R1466:Tsc2 UTSW 17 24608973 missense probably damaging 1.00
R1466:Tsc2 UTSW 17 24608973 missense probably damaging 1.00
R1541:Tsc2 UTSW 17 24631976 missense probably damaging 1.00
R1717:Tsc2 UTSW 17 24597068 missense probably damaging 0.98
R1799:Tsc2 UTSW 17 24604408 missense probably benign
R2030:Tsc2 UTSW 17 24623470 splice site probably benign
R2147:Tsc2 UTSW 17 24621142 missense possibly damaging 0.62
R2888:Tsc2 UTSW 17 24631995 critical splice donor site probably null
R3609:Tsc2 UTSW 17 24622550 missense possibly damaging 0.74
R3610:Tsc2 UTSW 17 24622550 missense possibly damaging 0.74
R3811:Tsc2 UTSW 17 24629037 missense probably benign 0.09
R3895:Tsc2 UTSW 17 24599812 missense probably damaging 1.00
R3962:Tsc2 UTSW 17 24621166 splice site probably benign
R3971:Tsc2 UTSW 17 24623588 missense probably damaging 1.00
R4018:Tsc2 UTSW 17 24625281 missense probably damaging 0.99
R4184:Tsc2 UTSW 17 24632016 missense probably benign 0.43
R4435:Tsc2 UTSW 17 24599713 missense probably benign 0.01
R4437:Tsc2 UTSW 17 24599713 missense probably benign 0.01
R4474:Tsc2 UTSW 17 24597264 missense probably damaging 0.98
R4703:Tsc2 UTSW 17 24604909 missense probably benign 0.13
R4731:Tsc2 UTSW 17 24603275 missense possibly damaging 0.72
R4732:Tsc2 UTSW 17 24603275 missense possibly damaging 0.72
R4733:Tsc2 UTSW 17 24603275 missense possibly damaging 0.72
R4817:Tsc2 UTSW 17 24596742 unclassified probably null
R4890:Tsc2 UTSW 17 24600035 missense probably damaging 1.00
R4922:Tsc2 UTSW 17 24600369 missense probably benign 0.22
R5119:Tsc2 UTSW 17 24603280 missense probably benign 0.00
R5393:Tsc2 UTSW 17 24600396 missense possibly damaging 0.89
R5785:Tsc2 UTSW 17 24599887 unclassified probably null
R5838:Tsc2 UTSW 17 24613216 missense probably benign 0.01
R5857:Tsc2 UTSW 17 24600007 missense probably damaging 0.99
R5911:Tsc2 UTSW 17 24600387 missense possibly damaging 0.63
R5988:Tsc2 UTSW 17 24620766 missense probably damaging 1.00
R6275:Tsc2 UTSW 17 24600420 missense probably benign 0.00
R6290:Tsc2 UTSW 17 24596910 missense probably benign 0.04
R6371:Tsc2 UTSW 17 24626714 missense probably benign 0.00
R6467:Tsc2 UTSW 17 24609127 missense probably benign 0.04
R6577:Tsc2 UTSW 17 24610499 missense probably damaging 1.00
R6728:Tsc2 UTSW 17 24621124 missense probably damaging 1.00
R6918:Tsc2 UTSW 17 24613229 missense probably damaging 1.00
R6995:Tsc2 UTSW 17 24628054 missense probably damaging 1.00
R7026:Tsc2 UTSW 17 24626739 missense probably damaging 0.99
R7136:Tsc2 UTSW 17 24613280 missense probably benign 0.00
R7236:Tsc2 UTSW 17 24623594 missense possibly damaging 0.82
R7243:Tsc2 UTSW 17 24599630 missense probably benign 0.02
R7249:Tsc2 UTSW 17 24607755 missense probably damaging 1.00
R7450:Tsc2 UTSW 17 24600031 missense probably damaging 1.00
R7522:Tsc2 UTSW 17 24630965 missense not run
R7529:Tsc2 UTSW 17 24597948 missense not run
Posted On2016-08-02