Mutagenetix > Incidental Mutation

Incidental Mutation 'R3962:Tsc2'

312150

Institutional Source

Beutler Lab

Gene Symbol

Tsc2

Ensembl Gene

ENSMUSG00000002496

Gene Name

TSC complex subunit 2

Synonyms

tuberin, Nafld, tuberous sclerosis 2

MMRRC Submission

040837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3962 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

24814790-24851604 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 24840140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154706 (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

SMART Domains

Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably benign
Transcript: ENSMUST00000226398

Predicted Effect

probably benign
Transcript: ENSMUST00000227607

Predicted Effect

probably benign
Transcript: ENSMUST00000227745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227754

Predicted Effect

probably benign
Transcript: ENSMUST00000228412

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

96% (48/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Abca12	A	T	1: 71,313,674 (GRCm39)		probably null	Het
Ablim2	C	T	5: 35,969,519 (GRCm39)	R211C	probably damaging	Het
Actn4	C	A	7: 28,597,647 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,587,798 (GRCm39)	S6G	probably benign	Het
Bod1l	T	G	5: 41,966,064 (GRCm39)	E2667A	probably benign	Het
Ccdc13	G	A	9: 121,628,005 (GRCm39)		probably benign	Het
Ccdc15	G	T	9: 37,231,782 (GRCm39)	R181S	probably damaging	Het
Ccnd1	G	A	7: 144,487,787 (GRCm39)	T230M	probably damaging	Het
Cdcp1	T	C	9: 123,011,446 (GRCm39)	T344A	possibly damaging	Het
Fam161a	T	C	11: 22,973,507 (GRCm39)	M275T	possibly damaging	Het
Fbxo15	A	G	18: 84,977,372 (GRCm39)	T95A	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Galk2	A	T	2: 125,735,293 (GRCm39)	N107I	probably benign	Het
Glmn	A	T	5: 107,708,911 (GRCm39)		probably benign	Het
Gm5082	T	C	13: 41,809,894 (GRCm39)		noncoding transcript	Het
Gm5828	C	T	1: 16,838,868 (GRCm39)		noncoding transcript	Het
Haus6	C	T	4: 86,530,041 (GRCm39)	A4T	possibly damaging	Het
Hmgcs2	G	A	3: 98,198,354 (GRCm39)	V86M	possibly damaging	Het
Hrg	G	A	16: 22,774,825 (GRCm39)	V152I	possibly damaging	Het
Itga2	A	T	13: 114,976,054 (GRCm39)	V1106E	probably damaging	Het
Itga9	G	A	9: 118,457,254 (GRCm39)	D122N	possibly damaging	Het
Kif21a	T	A	15: 90,869,612 (GRCm39)	E413V	probably damaging	Het
Klk1	A	G	7: 43,878,973 (GRCm39)	T256A	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Larp4	C	A	15: 99,910,026 (GRCm39)	Q652K	probably damaging	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Minar1	G	A	9: 89,483,963 (GRCm39)	T478I	probably damaging	Het
Moxd2	T	A	6: 40,862,331 (GRCm39)	M163L	probably benign	Het
Myo15a	G	A	11: 60,370,654 (GRCm39)	R1138H	probably benign	Het
Oasl2	A	G	5: 115,035,808 (GRCm39)	D28G	probably benign	Het
Or6c207	A	T	10: 129,104,535 (GRCm39)	I219N	probably damaging	Het
Platr26	A	T	2: 71,549,849 (GRCm39)		noncoding transcript	Het
Ptdss1	A	G	13: 67,142,075 (GRCm39)	H411R	probably benign	Het
Ptpra	A	G	2: 30,325,672 (GRCm39)	T147A	probably damaging	Het
Rfx2	T	C	17: 57,092,302 (GRCm39)	Y307C	probably damaging	Het
Rtn3	T	C	19: 7,435,510 (GRCm39)	S142G	probably damaging	Het
Shisa6	A	G	11: 66,108,302 (GRCm39)	V525A	probably damaging	Het
Slc4a3	A	G	1: 75,533,398 (GRCm39)	S1007G	probably damaging	Het
Spmip5	A	G	19: 58,777,541 (GRCm39)	Y82H	probably damaging	Het
Srsf3	C	T	17: 29,255,430 (GRCm39)		probably benign	Het
Taar8a	A	G	10: 23,953,054 (GRCm39)	I219M	probably damaging	Het
Tars2	A	G	3: 95,662,068 (GRCm39)		probably null	Het
Tfap2d	A	G	1: 19,189,189 (GRCm39)	N245S	probably damaging	Het
Tlr6	T	A	5: 65,112,328 (GRCm39)	H193L	probably benign	Het
Tomm20l	T	C	12: 71,164,352 (GRCm39)	V78A	probably benign	Het
Usp2	A	G	9: 43,986,954 (GRCm39)	D84G	possibly damaging	Het
V1ra8	A	G	6: 90,180,466 (GRCm39)	N223S	probably benign	Het
Wnk2	C	A	13: 49,224,453 (GRCm39)	R1122L	probably damaging	Het

Other mutations in Tsc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CTCCGTGATTTTGGAGGCTC -3'
(R):5'- AGTCATTTTGCCAGGGTTACTCTG -3'

Sequencing Primer
(F):5'- GCTCAGAAAGGAAAGCCTGATCTTAC -3'
(R):5'- GCCAGGGTTACTCTGTCCACTG -3'

Posted On

2015-04-29