Incidental Mutation 'R7136:Tsc2'
ID 553103
Institutional Source Beutler Lab
Gene Symbol Tsc2
Ensembl Gene ENSMUSG00000002496
Gene Name TSC complex subunit 2
Synonyms tuberin, Nafld, tuberous sclerosis 2
MMRRC Submission 045220-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7136 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24814790-24851604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24832254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 711 (S711G)
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 benign
Transcript: ENSMUST00000097373
AA Change: S711G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: S711G

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 benign
Transcript: ENSMUST00000226284
AA Change: S711G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000226398
AA Change: S711G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000227607
AA Change: S652G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000227745
AA Change: S711G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228412
AA Change: S711G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,560,610 (GRCm39) S262P probably damaging Het
Abcc2 A G 19: 43,825,899 (GRCm39) E1512G probably damaging Het
Abcg2 T G 6: 58,661,325 (GRCm39) Y459D possibly damaging Het
Amy1 T C 3: 113,357,248 (GRCm39) Y197C probably damaging Het
Bptf A G 11: 106,990,541 (GRCm39) I516T probably damaging Het
Capn12 T A 7: 28,582,532 (GRCm39) probably null Het
Cbln2 T A 18: 86,734,797 (GRCm39) L190Q probably damaging Het
Ccdc157 C T 11: 4,098,592 (GRCm39) E305K possibly damaging Het
Ccdc47 A G 11: 106,095,830 (GRCm39) S289P probably benign Het
Chd3 C T 11: 69,239,264 (GRCm39) E1756K probably null Het
Chrd G T 16: 20,553,272 (GRCm39) A183S possibly damaging Het
Cp C T 3: 20,039,822 (GRCm39) R880* probably null Het
Cyp24a1 A T 2: 170,336,063 (GRCm39) D191E probably benign Het
Dnah1 T C 14: 31,020,613 (GRCm39) Y1252C probably damaging Het
Eps8l1 A G 7: 4,480,403 (GRCm39) D487G probably damaging Het
Fam227b T G 2: 125,965,948 (GRCm39) Q159P probably damaging Het
Fat3 A G 9: 16,289,481 (GRCm39) I14T probably benign Het
Fbxl19 C A 7: 127,349,217 (GRCm39) T129N possibly damaging Het
Fuca2 T C 10: 13,381,665 (GRCm39) F193L probably benign Het
H2-Q1 T C 17: 35,539,603 (GRCm39) probably null Het
Hgh1 A G 15: 76,254,631 (GRCm39) M336V probably benign Het
Il12b T C 11: 44,298,857 (GRCm39) L104P probably benign Het
Kcnh2 A T 5: 24,537,989 (GRCm39) F125I probably benign Het
Kcnk7 A G 19: 5,756,104 (GRCm39) H110R probably benign Het
Kdm3a G A 6: 71,588,764 (GRCm39) P415L probably benign Het
Kifc3 T C 8: 95,830,077 (GRCm39) T610A probably benign Het
Krbox5 A G 13: 67,991,111 (GRCm39) probably null Het
Lmbr1l C A 15: 98,809,372 (GRCm39) probably null Het
Lmo7 T A 14: 102,157,975 (GRCm39) M1436K unknown Het
Lrp1 C T 10: 127,394,491 (GRCm39) C2574Y probably damaging Het
Med13l A G 5: 118,859,587 (GRCm39) E258G possibly damaging Het
Mesp1 T C 7: 79,442,906 (GRCm39) I124V probably damaging Het
Mrgpra2a A T 7: 47,076,934 (GRCm39) I108N probably benign Het
Nos1 G T 5: 118,033,925 (GRCm39) R349L possibly damaging Het
Or5k3 C T 16: 58,969,327 (GRCm39) T38I probably damaging Het
Or7c70 T C 10: 78,683,615 (GRCm39) I45V probably benign Het
Osgin1 T A 8: 120,168,176 (GRCm39) M1K probably null Het
Pde4dip C T 3: 97,601,379 (GRCm39) S2346N probably benign Het
Pde7a T C 3: 19,285,258 (GRCm39) M310V probably benign Het
Pigw G A 11: 84,768,585 (GRCm39) T248M probably damaging Het
Pink1 T C 4: 138,044,769 (GRCm39) T323A probably damaging Het
Polr3a C T 14: 24,511,883 (GRCm39) R891Q probably damaging Het
Prkar1b C A 5: 139,094,363 (GRCm39) C75F probably benign Het
Prss58 C T 6: 40,876,987 (GRCm39) probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Pttg1ip2 A T 5: 5,516,631 (GRCm39) D63E possibly damaging Het
Qars1 T C 9: 108,389,971 (GRCm39) I350T probably damaging Het
Qprt T C 7: 126,707,984 (GRCm39) K149R probably damaging Het
Rasgrf1 T A 9: 89,873,651 (GRCm39) D653E probably damaging Het
Rbm26 T C 14: 105,381,703 (GRCm39) M481V possibly damaging Het
Rdx C T 9: 51,997,745 (GRCm39) T573M probably damaging Het
Rgs14 A G 13: 55,527,508 (GRCm39) probably null Het
Robo2 T C 16: 73,753,438 (GRCm39) E813G probably damaging Het
Rrbp1 A T 2: 143,791,600 (GRCm39) F1369I probably benign Het
Sh2d4b T A 14: 40,562,209 (GRCm39) T319S probably benign Het
Slc7a15 G T 12: 8,588,895 (GRCm39) N217K probably damaging Het
Stmn1 A G 4: 134,198,088 (GRCm39) K42E probably damaging Het
Tbl2 T G 5: 135,178,682 (GRCm39) W31G probably benign Het
Tmem8b T C 4: 43,669,845 (GRCm39) C114R possibly damaging Het
Ttn T C 2: 76,666,904 (GRCm39) R11531G unknown Het
Ube2e3 T C 2: 78,744,085 (GRCm39) Y105H probably benign Het
Usp16 G T 16: 87,280,059 (GRCm39) C753F probably benign Het
Vmn1r13 T C 6: 57,187,239 (GRCm39) S133P possibly damaging Het
Vmn2r76 T A 7: 85,877,975 (GRCm39) Q474L probably benign Het
Vps52 T C 17: 34,184,262 (GRCm39) I601T probably benign Het
Wasf1 A T 10: 40,802,587 (GRCm39) T81S possibly damaging Het
Wdr82 A G 9: 106,048,532 (GRCm39) S39G probably benign Het
Zdhhc13 A G 7: 48,451,080 (GRCm39) I108V probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CCTGACTTCCTTGGTGATGAAC -3'
(R):5'- TCAAGGCTCCATACATACCTTG -3'

Sequencing Primer
(F):5'- GTGTAAGCCGAATAAACCCTTTC -3'
(R):5'- CATACCTTGTGGCAAAGTAGC -3'
Posted On 2019-05-15