Incidental Mutation 'R7236:Tsc2'
ID 562854
Institutional Source Beutler Lab
Gene Symbol Tsc2
Ensembl Gene ENSMUSG00000002496
Gene Name TSC complex subunit 2
Synonyms tuberin, Nafld, tuberous sclerosis 2
MMRRC Submission 045306-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7236 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24814790-24851604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24842568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 286 (M286K)
Ref Sequence ENSEMBL: ENSMUSP00000094986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000226398] [ENSMUST00000227607] [ENSMUST00000227745] [ENSMUST00000228412]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000097373
AA Change: M286K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: M286K

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 possibly damaging
Transcript: ENSMUST00000226284
AA Change: M286K

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226398
AA Change: M286K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227607
AA Change: M227K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000227745
AA Change: M286K

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000228412
AA Change: M286K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,921,644 (GRCm39) V179I probably benign Het
Adra1b A G 11: 43,667,151 (GRCm39) I362T possibly damaging Het
B3galnt1 T C 3: 69,482,950 (GRCm39) K104E probably benign Het
Bnc2 T C 4: 84,474,101 (GRCm39) Y15C probably benign Het
C2cd2l C A 9: 44,228,960 (GRCm39) A124S possibly damaging Het
Camsap3 T A 8: 3,654,116 (GRCm39) F595L probably damaging Het
Cct2 A T 10: 116,897,464 (GRCm39) D93E probably benign Het
Cd200l2 A T 16: 45,348,030 (GRCm39) I169N possibly damaging Het
Cemip A T 7: 83,598,012 (GRCm39) probably null Het
Ciapin1 T C 8: 95,550,338 (GRCm39) T34A Het
Dop1a G A 9: 86,397,431 (GRCm39) V912I probably damaging Het
Efcab3 A T 11: 104,790,093 (GRCm39) Q2832L probably benign Het
Eif3c T C 7: 126,151,495 (GRCm39) T610A possibly damaging Het
Ephb3 A G 16: 21,033,231 (GRCm39) R106G probably damaging Het
Ephx3 T A 17: 32,404,328 (GRCm39) probably null Het
Etv2 A T 7: 30,334,455 (GRCm39) S93T probably benign Het
Fbxo34 T A 14: 47,767,841 (GRCm39) D451E probably benign Het
Fmo9 A G 1: 166,504,140 (GRCm39) F141L probably damaging Het
Fryl T C 5: 73,265,821 (GRCm39) K500R possibly damaging Het
Gfra3 T C 18: 34,828,884 (GRCm39) D170G probably damaging Het
Gnptg T C 17: 25,458,897 (GRCm39) N34S possibly damaging Het
Golga5 T A 12: 102,441,034 (GRCm39) probably null Het
Herc2 G T 7: 55,734,828 (GRCm39) L139F probably benign Het
Ikzf2 T A 1: 69,578,240 (GRCm39) N423I probably benign Het
Il31ra A T 13: 112,660,439 (GRCm39) *717R probably null Het
Itga2 G T 13: 115,014,227 (GRCm39) Q234K probably benign Het
Kcnt1 A T 2: 25,799,951 (GRCm39) probably null Het
Kif19b G T 5: 140,457,400 (GRCm39) A390S probably benign Het
Man2a2 T C 7: 80,018,653 (GRCm39) S69G probably damaging Het
Mccc1 A G 3: 36,037,944 (GRCm39) V294A probably benign Het
Mphosph8 T A 14: 56,911,754 (GRCm39) I259K possibly damaging Het
Mrpl15 A T 1: 4,846,711 (GRCm39) N288K probably benign Het
Msantd2 T C 9: 37,400,965 (GRCm39) W116R probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Mtmr10 T C 7: 63,963,932 (GRCm39) probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Nhsl1 A G 10: 18,401,512 (GRCm39) K879E probably damaging Het
Or8j3c A T 2: 86,253,533 (GRCm39) C162* probably null Het
Pak6 A G 2: 118,523,909 (GRCm39) T355A probably benign Het
Patj C T 4: 98,299,294 (GRCm39) R139C probably damaging Het
Pcdhb3 C T 18: 37,434,505 (GRCm39) A157V probably damaging Het
Phkg1 C A 5: 129,895,802 (GRCm39) D150Y probably damaging Het
Ppp2r5c C T 12: 110,432,323 (GRCm39) S45L probably benign Het
Prl4a1 A C 13: 28,202,556 (GRCm39) T44P probably benign Het
Ptpro G A 6: 137,345,335 (GRCm39) V114M probably damaging Het
Pwp1 A G 10: 85,715,147 (GRCm39) N211S probably benign Het
Ralgapb A G 2: 158,282,747 (GRCm39) D504G probably benign Het
Rock2 A T 12: 16,979,003 (GRCm39) I98F probably damaging Het
Senp6 G T 9: 80,040,247 (GRCm39) V785L probably damaging Het
Simc1 A G 13: 54,672,609 (GRCm39) D319G probably benign Het
Tas2r105 A T 6: 131,663,723 (GRCm39) I235N probably damaging Het
Tas2r110 A T 6: 132,845,667 (GRCm39) M233L possibly damaging Het
Tmem260 C T 14: 48,746,647 (GRCm39) probably null Het
Trank1 G T 9: 111,202,142 (GRCm39) V1590L possibly damaging Het
Ttn T C 2: 76,697,796 (GRCm39) T202A Het
Ttyh1 A G 7: 4,136,663 (GRCm39) N424D probably benign Het
Usp24 T A 4: 106,263,502 (GRCm39) probably null Het
Utp20 G T 10: 88,585,204 (GRCm39) P2620Q probably benign Het
Vmn1r45 A G 6: 89,910,133 (GRCm39) M279T probably benign Het
Vmn2r115 T A 17: 23,578,576 (GRCm39) I683K probably benign Het
Vmn2r34 T C 7: 7,684,750 (GRCm39) K481E probably damaging Het
Vmn2r54 T A 7: 12,365,917 (GRCm39) H339L possibly damaging Het
Vmn2r94 T A 17: 18,477,811 (GRCm39) N200I possibly damaging Het
Wdfy3 A G 5: 101,984,074 (GRCm39) Y3493H probably damaging Het
Wdr5b A G 16: 35,862,208 (GRCm39) D109G possibly damaging Het
Zfp286 A T 11: 62,674,496 (GRCm39) probably null 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
IGL03372:Tsc2 APN 17 24,838,444 (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
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
Predicted Primers PCR Primer
(F):5'- GGCAAACCTGATGCAAGCTC -3'
(R):5'- TAACCCATGTGACCAGTAGTG -3'

Sequencing Primer
(F):5'- CTGATGCAAGCTCTCCCAC -3'
(R):5'- TGAAGGAATCACAGTTGCTGCTG -3'
Posted On 2019-06-26