Incidental Mutation 'R0826:Tsc2'
ID 78264
Institutional Source Beutler Lab
Gene Symbol Tsc2
Ensembl Gene ENSMUSG00000002496
Gene Name TSC complex subunit 2
Synonyms tuberin, Nafld, tuberous sclerosis 2
MMRRC Submission 039006-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0826 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24814790-24851604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24815932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 150 (L150P)
Ref Sequence ENSEMBL: ENSMUSP00000153864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035565] [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000226398] [ENSMUST00000227804] [ENSMUST00000227607] [ENSMUST00000228412] [ENSMUST00000227058] [ENSMUST00000227745] [ENSMUST00000228581]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035565
SMART Domains Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LRRNT 32 71 1.61e-8 SMART
LRR_TYP 90 113 2.47e-5 SMART
LRRCT 125 177 3.84e-12 SMART
WSC 177 271 6.93e-34 SMART
PKD 272 355 2.72e-15 SMART
CLECT 406 530 5.72e-20 SMART
low complexity region 545 558 N/A INTRINSIC
low complexity region 763 788 N/A INTRINSIC
PKD 930 1008 1.06e-8 SMART
PKD 1015 1119 2.26e-12 SMART
PKD 1122 1205 2.03e-14 SMART
PKD 1208 1288 1.14e-17 SMART
PKD 1290 1373 2.35e-10 SMART
PKD 1374 1459 7.63e-10 SMART
PKD 1464 1541 1.95e-16 SMART
PKD 1544 1625 1.05e-16 SMART
PKD 1631 1714 1.93e-1 SMART
PKD 1716 1798 2.21e-15 SMART
PKD 1799 1882 5.7e-9 SMART
PKD 1884 1964 1.56e-6 SMART
PKD 1968 2056 3.1e-10 SMART
PKD 2057 2140 1.74e-13 SMART
Pfam:REJ 2167 2610 1e-108 PFAM
low complexity region 2697 2706 N/A INTRINSIC
GPS 3003 3052 1.33e-12 SMART
transmembrane domain 3065 3087 N/A INTRINSIC
LH2 3110 3224 3.5e-18 SMART
transmembrane domain 3275 3294 N/A INTRINSIC
transmembrane domain 3314 3336 N/A INTRINSIC
low complexity region 3357 3378 N/A INTRINSIC
low complexity region 3479 3492 N/A INTRINSIC
transmembrane domain 3547 3569 N/A INTRINSIC
low complexity region 3573 3591 N/A INTRINSIC
low complexity region 3626 3639 N/A INTRINSIC
low complexity region 3661 3676 N/A INTRINSIC
Pfam:PKD_channel 3701 4103 7.1e-125 PFAM
low complexity region 4153 4172 N/A INTRINSIC
low complexity region 4238 4256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097373
SMART Domains Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496

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: ENSMUST00000116692
Predicted Effect probably benign
Transcript: ENSMUST00000226284
Predicted Effect probably benign
Transcript: ENSMUST00000226398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226473
Predicted Effect probably benign
Transcript: ENSMUST00000227804
AA Change: L150P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227094
Predicted Effect probably benign
Transcript: ENSMUST00000227107
Predicted Effect probably benign
Transcript: ENSMUST00000227607
Predicted Effect probably benign
Transcript: ENSMUST00000228412
Predicted Effect probably benign
Transcript: ENSMUST00000227058
Predicted Effect probably benign
Transcript: ENSMUST00000227745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227432
Predicted Effect probably benign
Transcript: ENSMUST00000228581
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.6%
  • 10x: 95.7%
  • 20x: 86.3%
Validation Efficiency 100% (69/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4931406C07Rik T C 9: 15,203,292 (GRCm39) probably null Het
Adamts16 T A 13: 70,916,811 (GRCm39) D727V possibly damaging Het
Anxa10 A C 8: 62,529,318 (GRCm39) L133* probably null Het
Arfgef3 G A 10: 18,465,414 (GRCm39) T2143I probably damaging Het
Arhgef17 T C 7: 100,579,950 (GRCm39) T333A probably benign Het
Arhgef40 A G 14: 52,238,450 (GRCm39) T1310A probably benign Het
Atg10 C T 13: 91,084,705 (GRCm39) probably null Het
Atp1a1 A G 3: 101,492,169 (GRCm39) F569S probably damaging Het
Baiap3 A G 17: 25,464,203 (GRCm39) W849R possibly damaging Het
Baz1a A T 12: 54,977,097 (GRCm39) Y9* probably null Het
Catsperg2 C T 7: 29,405,049 (GRCm39) D702N possibly damaging Het
Clasrp G T 7: 19,318,226 (GRCm39) probably benign Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Col19a1 T C 1: 24,565,467 (GRCm39) K288R unknown Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cttnbp2 A G 6: 18,405,177 (GRCm39) probably benign Het
Dnah1 T A 14: 31,025,864 (GRCm39) I828F probably benign Het
Dpf2 G T 19: 5,957,155 (GRCm39) Q23K probably damaging Het
Dsc3 T A 18: 20,114,229 (GRCm39) I342F probably damaging Het
Enpp3 A G 10: 24,671,614 (GRCm39) L460P probably damaging Het
Epb41l2 A G 10: 25,380,090 (GRCm39) E871G probably damaging Het
Exoc2 T C 13: 31,040,780 (GRCm39) probably null Het
Fam243 G A 16: 92,118,075 (GRCm39) S71L probably benign Het
Fpr-rs7 A T 17: 20,333,888 (GRCm39) S201T probably benign Het
Gtf2ird2 T C 5: 134,245,797 (GRCm39) F685S probably damaging Het
Helz2 C T 2: 180,882,646 (GRCm39) R49H possibly damaging Het
Ica1 A G 6: 8,667,375 (GRCm39) probably benign Het
Ift56 A G 6: 38,402,049 (GRCm39) probably null Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kif21a A G 15: 90,881,744 (GRCm39) probably null Het
Lamb3 T A 1: 193,013,216 (GRCm39) C480* probably null Het
Lamc2 A G 1: 153,027,828 (GRCm39) S199P probably damaging Het
Lrfn3 T C 7: 30,059,676 (GRCm39) N183S probably benign Het
Lsm14a C A 7: 34,070,470 (GRCm39) probably benign Het
Mest C A 6: 30,742,813 (GRCm39) H146Q probably damaging Het
Mmp27 T C 9: 7,579,010 (GRCm39) V339A probably damaging Het
Myo16 T C 8: 10,426,285 (GRCm39) probably benign Het
Myoz1 C T 14: 20,703,679 (GRCm39) probably benign Het
Nlrp5 A G 7: 23,117,133 (GRCm39) M286V probably benign Het
Optc T C 1: 133,832,893 (GRCm39) K69R probably benign Het
Or13c3 C T 4: 52,855,566 (GRCm39) V316I probably benign Het
Or2y1c A T 11: 49,361,158 (GRCm39) Y60F probably damaging Het
Or4a77 A C 2: 89,487,181 (GRCm39) N201K possibly damaging Het
Or8g18 C T 9: 39,149,725 (GRCm39) M1I probably null Het
Osbpl3 A T 6: 50,323,357 (GRCm39) M242K probably damaging Het
Pdzd9 T A 7: 120,267,624 (GRCm39) S64C probably damaging Het
Pik3cg A G 12: 32,245,672 (GRCm39) S859P possibly damaging Het
Ppp1r12a G T 10: 108,066,414 (GRCm39) A202S possibly damaging Het
Rab32 A T 10: 10,426,611 (GRCm39) F112I possibly damaging Het
Ror2 T C 13: 53,267,253 (GRCm39) Y394C probably damaging Het
Rtn3 A G 19: 7,445,245 (GRCm39) probably benign Het
Sbk1 C T 7: 125,891,007 (GRCm39) P147L probably damaging Het
Shpk T A 11: 73,094,857 (GRCm39) M91K probably damaging Het
Slco6c1 C T 1: 97,055,826 (GRCm39) S25N probably benign Het
Snx2 A T 18: 53,327,594 (GRCm39) T107S probably benign Het
Tle2 G A 10: 81,422,148 (GRCm39) V397I possibly damaging Het
Tmem131l T C 3: 83,805,724 (GRCm39) D1573G probably damaging Het
Tnfrsf8 A G 4: 145,011,708 (GRCm39) probably benign Het
Tpmt T C 13: 47,194,965 (GRCm39) E36G probably benign Het
Trim30c T A 7: 104,032,688 (GRCm39) T257S probably benign Het
Upf3a G C 8: 13,848,338 (GRCm39) G378A possibly damaging Het
Yeats2 A T 16: 20,011,966 (GRCm39) K514* probably null Het
Zfp11 A G 5: 129,734,589 (GRCm39) Y291H probably benign Het
Zfp457 T C 13: 67,441,378 (GRCm39) D399G 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
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
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'- TGTGAAGTCATCCACGGAGGAAATG -3'
(R):5'- CCAAGATTGTGTCTGACCGCAACC -3'

Sequencing Primer
(F):5'- TCTTCACGGATCTAGAGAGAGAG -3'
(R):5'- GTCTGACCGCAACCTGTCC -3'
Posted On 2013-10-16