Incidental Mutation 'R7249:Tsc2'
ID 563786
Institutional Source Beutler Lab
Gene Symbol Tsc2
Ensembl Gene ENSMUSG00000002496
Gene Name TSC complex subunit 2
Synonyms tuberin, Nafld, tuberous sclerosis 2
MMRRC Submission 045312-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 24814790-24851604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24826729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 896 (W896R)
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 probably damaging
Transcript: ENSMUST00000097373
AA Change: W896R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: W896R

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 probably damaging
Transcript: ENSMUST00000226284
AA Change: W896R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000226398
AA Change: W896R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227607
AA Change: W837R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000227745
AA Change: W896R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228412
AA Change: W896R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,974,970 (GRCm39) T38A probably benign Het
3425401B19Rik G T 14: 32,385,271 (GRCm39) S231R possibly damaging Het
Abi1 T C 2: 22,847,101 (GRCm39) E250G possibly damaging Het
Actl6b T A 5: 137,553,347 (GRCm39) S120T probably damaging Het
Adgrv1 G A 13: 81,522,378 (GRCm39) H5920Y probably damaging Het
Adra2c G A 5: 35,438,299 (GRCm39) R357H probably damaging Het
Ap3d1 T C 10: 80,577,767 (GRCm39) D20G probably damaging Het
Arfgef3 A T 10: 18,506,583 (GRCm39) D847E possibly damaging Het
Cacna1d T C 14: 29,864,660 (GRCm39) E434G probably damaging Het
Carm1 T C 9: 21,497,505 (GRCm39) Y356H probably benign Het
Clip1 T C 5: 123,741,663 (GRCm39) K1075R probably damaging Het
Cyp27b1 G T 10: 126,886,918 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,113,885 (GRCm39) V1769D possibly damaging Het
Dchs2 C T 3: 83,035,336 (GRCm39) Q28* probably null Het
Dpp4 A G 2: 62,215,547 (GRCm39) F107L probably benign Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Faap24 A G 7: 35,094,485 (GRCm39) V105A probably benign Het
Gabra6 A T 11: 42,208,259 (GRCm39) D166E probably damaging Het
Gfpt1 A G 6: 87,033,126 (GRCm39) E117G probably damaging Het
H2-T10 T C 17: 36,430,269 (GRCm39) D224G probably damaging Het
Hspa12a T A 19: 58,793,865 (GRCm39) E332V probably benign Het
Htr5b T A 1: 121,438,203 (GRCm39) N343Y probably damaging Het
Irf8 C A 8: 121,466,571 (GRCm39) N5K possibly damaging Het
Itgb1 C A 8: 129,446,885 (GRCm39) Q467K probably benign Het
Itpr2 C A 6: 146,212,550 (GRCm39) C1522F probably damaging Het
Jmjd1c T A 10: 67,025,596 (GRCm39) L138I probably benign Het
Lrrc8b G T 5: 105,629,133 (GRCm39) R493L probably benign Het
Malrd1 G T 2: 15,628,151 (GRCm39) C400F probably damaging Het
Marchf8 G A 6: 116,383,195 (GRCm39) E257K probably benign Het
Mastl G A 2: 23,036,151 (GRCm39) H122Y probably damaging Het
Mis18a T C 16: 90,523,202 (GRCm39) K98R possibly damaging Het
Msra A G 14: 64,678,212 (GRCm39) V28A probably benign Het
Mtmr7 A G 8: 41,043,520 (GRCm39) V177A probably benign Het
Nelfcd T C 2: 174,264,999 (GRCm39) probably null Het
Nemp1 T C 10: 127,529,395 (GRCm39) S226P probably damaging Het
Nmnat1 G A 4: 149,554,099 (GRCm39) T147I probably null Het
Ntng2 A G 2: 29,118,004 (GRCm39) V148A probably benign Het
Nup214 A G 2: 31,878,245 (GRCm39) H304R possibly damaging Het
Or4a2 T C 2: 89,248,217 (GRCm39) Y180C probably damaging Het
Phldb2 C A 16: 45,621,977 (GRCm39) A623S probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkn3 G A 2: 29,974,773 (GRCm39) R429Q probably benign Het
Plcb4 A G 2: 135,849,741 (GRCm39) probably null Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pnp G A 14: 51,188,887 (GRCm39) V227I probably benign Het
Pskh1 T C 8: 106,639,886 (GRCm39) S189P possibly damaging Het
Rbpms2 T G 9: 65,556,632 (GRCm39) V24G probably damaging Het
Robo3 T A 9: 37,336,129 (GRCm39) I446L probably benign Het
Septin8 A T 11: 53,425,949 (GRCm39) K174I probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slco4a1 A G 2: 180,106,604 (GRCm39) Y262C probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spidr T C 16: 15,784,512 (GRCm39) S519G probably benign Het
Ssx2ip A G 3: 146,132,193 (GRCm39) N218S possibly damaging Het
Svil T C 18: 5,056,270 (GRCm39) V381A probably benign Het
Svil T C 18: 5,062,247 (GRCm39) S769P probably damaging Het
Tep1 A T 14: 51,061,732 (GRCm39) C2595S possibly damaging Het
Tiam1 T C 16: 89,640,143 (GRCm39) Y858C probably damaging Het
Tie1 A G 4: 118,343,425 (GRCm39) V146A probably benign Het
Traf3ip1 G T 1: 91,455,361 (GRCm39) E578D probably damaging Het
Trim23 A G 13: 104,324,663 (GRCm39) Y247C probably damaging Het
Vmn1r157 T C 7: 22,461,125 (GRCm39) S2P probably benign Het
Xkr4 T A 1: 3,287,033 (GRCm39) T386S probably damaging Het
Zdhhc24 T G 19: 4,928,889 (GRCm39) V38G possibly 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
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
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
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'- AGACCAAATCTGCAGTTCTTTTCC -3'
(R):5'- AGTCTCTTGAGAAGCTGGGC -3'

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