Incidental Mutation 'R6995:Tsc2'
ID 544170
Institutional Source Beutler Lab
Gene Symbol Tsc2
Ensembl Gene ENSMUSG00000002496
Gene Name TSC complex subunit 2
Synonyms tuberin, Nafld, tuberous sclerosis 2
MMRRC Submission 045101-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6995 (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 T at 24847028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 179 (V179E)
Ref Sequence ENSEMBL: ENSMUSP00000154338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047611] [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000226398] [ENSMUST00000227509] [ENSMUST00000227607] [ENSMUST00000227745] [ENSMUST00000228412]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000047611
SMART Domains Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 24 37 N/A INTRINSIC
low complexity region 55 68 N/A INTRINSIC
ENDO3c 126 276 1.06e-58 SMART
FES 277 297 4.82e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097373
AA Change: V179E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: V179E

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: V179E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000226398
AA Change: V179E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227509
Predicted Effect probably damaging
Transcript: ENSMUST00000227607
AA Change: V120E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227745
AA Change: V179E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228412
AA Change: V179E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227754
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,644,149 (GRCm39) Y606C probably benign Het
Acad9 A G 3: 36,139,630 (GRCm39) Y410C probably damaging Het
Acot6 C T 12: 84,156,149 (GRCm39) P366S probably damaging Het
Adrm1b T C 3: 92,336,315 (GRCm39) probably benign Het
Anks1 G T 17: 28,273,273 (GRCm39) G964V probably damaging Het
Apol7a A T 15: 77,274,176 (GRCm39) probably benign Het
Arid3c G A 4: 41,725,087 (GRCm39) A320V probably damaging Het
Bnip3l A T 14: 67,237,101 (GRCm39) N50K probably benign Het
C1qtnf4 C A 2: 90,720,297 (GRCm39) A190D probably benign Het
Calhm5 A T 10: 33,972,189 (GRCm39) M82K probably benign Het
Cdcp3 G T 7: 130,824,400 (GRCm39) W165L probably damaging Het
Cdh1 G T 8: 107,387,545 (GRCm39) V482L probably benign Het
Cdrt4 A C 11: 62,883,486 (GRCm39) I63L probably benign Het
Cic A T 7: 24,970,736 (GRCm39) T156S possibly damaging Het
Ckm A G 7: 19,154,156 (GRCm39) N301S probably benign Het
Colgalt1 C T 8: 72,076,165 (GRCm39) R539C probably damaging Het
Cop1 A G 1: 159,134,154 (GRCm39) D132G probably damaging Het
Cpd G T 11: 76,675,881 (GRCm39) N1257K probably benign Het
Cyp2c67 T C 19: 39,604,123 (GRCm39) H411R probably damaging Het
Cyp2r1 A T 7: 114,152,316 (GRCm39) F5I probably damaging Het
Dclk3 T A 9: 111,296,768 (GRCm39) L104Q possibly damaging Het
Dnah7c A T 1: 46,494,973 (GRCm39) Q67L probably benign Het
Dnm1l C A 16: 16,147,671 (GRCm39) E365* probably null Het
Dst A T 1: 34,205,315 (GRCm39) I502F probably damaging Het
Espl1 T C 15: 102,212,535 (GRCm39) V547A possibly damaging Het
Foxa1 C T 12: 57,589,264 (GRCm39) A319T probably benign Het
Frem1 G T 4: 82,904,838 (GRCm39) H859N probably damaging Het
Frem3 T A 8: 81,339,208 (GRCm39) D500E probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grip1 A G 10: 119,822,375 (GRCm39) D394G probably damaging Het
Gsap C A 5: 21,476,235 (GRCm39) T589K possibly damaging Het
Gsg1l A G 7: 125,522,658 (GRCm39) V190A probably damaging Het
Kcnmb1 A T 11: 33,920,131 (GRCm39) T115S probably benign Het
Kirrel2 A C 7: 30,154,604 (GRCm39) F169C probably damaging Het
L3mbtl1 C T 2: 162,803,368 (GRCm39) T397M probably damaging Het
Lama1 G A 17: 68,060,820 (GRCm39) C716Y Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Lrig1 T C 6: 94,588,610 (GRCm39) D513G possibly damaging Het
Lrrk1 T C 7: 65,942,090 (GRCm39) D716G probably damaging Het
Matn4 G A 2: 164,231,584 (GRCm39) R582* probably null Het
Mdn1 A T 4: 32,733,374 (GRCm39) R3133W probably benign Het
Mmp7 A G 9: 7,695,489 (GRCm39) D122G probably damaging Het
Naaladl1 A G 19: 6,165,578 (GRCm39) D744G possibly damaging Het
Nampt T G 12: 32,898,742 (GRCm39) Y453D probably benign Het
Nlrp12 A G 7: 3,288,481 (GRCm39) V677A probably benign Het
Ntng2 T C 2: 29,087,080 (GRCm39) N414S probably damaging Het
Or1e16 A G 11: 73,286,410 (GRCm39) V146A probably benign Het
Or4g17 A G 2: 111,209,708 (GRCm39) D121G probably damaging Het
Or5p52 A G 7: 107,502,829 (GRCm39) R302G probably benign Het
Or9m1b A C 2: 87,836,529 (GRCm39) F189V probably benign Het
Parp4 A C 14: 56,851,196 (GRCm39) Q733P probably damaging Het
Pdcl3 G A 1: 39,034,417 (GRCm39) V56I probably benign Het
Pepd A G 7: 34,721,144 (GRCm39) Y256C probably damaging Het
Plg G T 17: 12,637,938 (GRCm39) R788L probably benign Het
Plod1 A T 4: 148,000,675 (GRCm39) probably benign Het
Ptprc A G 1: 138,016,482 (GRCm39) V513A probably damaging Het
Pxdn T C 12: 30,045,370 (GRCm39) I373T possibly damaging Het
Qrfprl A T 6: 65,418,285 (GRCm39) K151I probably damaging Het
Rbbp8 G A 18: 11,851,965 (GRCm39) G262E probably damaging Het
Rfc2 T A 5: 134,623,104 (GRCm39) Y240* probably null Het
Rps15 A G 10: 80,129,598 (GRCm39) E71G possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr1 A C 7: 28,793,607 (GRCm39) M1287R probably damaging Het
Scart2 G A 7: 139,841,514 (GRCm39) D273N probably benign Het
Serpina9 A G 12: 103,967,495 (GRCm39) L300P probably damaging Het
Sh3rf2 G A 18: 42,234,606 (GRCm39) A130T probably damaging Het
Slc12a8 G A 16: 33,355,263 (GRCm39) W26* probably null Het
Snx18 A T 13: 113,731,265 (GRCm39) H576Q probably damaging Het
Tagln3 G A 16: 45,543,321 (GRCm39) T107I probably benign Het
Thap1 C A 8: 26,652,679 (GRCm39) T139K probably damaging Het
Tle4 T A 19: 14,541,817 (GRCm39) probably null Het
Tmem87a A T 2: 120,193,409 (GRCm39) M502K possibly damaging Het
Tpcn2 A T 7: 144,810,522 (GRCm39) V605E probably benign Het
Trgj1 C A 13: 19,394,529 (GRCm39) probably benign Het
Ubap2l T C 3: 89,916,548 (GRCm39) T909A probably damaging Het
Ubl4b T G 3: 107,462,140 (GRCm39) Q40P probably damaging Het
Vmn1r229 A G 17: 21,035,277 (GRCm39) D174G probably damaging Het
Vmn2r50 A T 7: 9,779,964 (GRCm39) Y472* probably null Het
Vmn2r74 T A 7: 85,601,943 (GRCm39) D565V probably benign Het
Vmn2r74 T A 7: 85,606,860 (GRCm39) probably null Het
Vmn2r82 T A 10: 79,232,377 (GRCm39) V792E probably damaging Het
Zfp335 G A 2: 164,735,210 (GRCm39) Q1179* probably null Het
Zmynd12 A C 4: 119,310,772 (GRCm39) K327Q probably benign Het
Zwilch G A 9: 64,072,731 (GRCm39) Q27* 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
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
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'- AATCCTAAAGAGCTAAGCTTGAGACC -3'
(R):5'- AGGGCTTGCTCAGATTCCTG -3'

Sequencing Primer
(F):5'- TTGAGACCCAAGACCGTGG -3'
(R):5'- GCTCAGATTCCTGCTGAGC -3'
Posted On 2019-05-13