Mutagenetix > Incidental Mutation

Incidental Mutation 'R2888:Tsc2'

260014

Institutional Source

Beutler Lab

Gene Symbol

Tsc2

Ensembl Gene

ENSMUSG00000002496

Gene Name

TSC complex subunit 2

Synonyms

tuberin, Nafld, tuberous sclerosis 2

MMRRC Submission

040476-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24814790-24851604 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 24850969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047611] [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000226398] [ENSMUST00000227509] [ENSMUST00000227607] [ENSMUST00000227607] [ENSMUST00000227745] [ENSMUST00000228412]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047611

SMART Domains

Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000097373
AA Change: C30R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: C30R

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
AA Change: C30R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000226398
AA Change: C30R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227509

Predicted Effect

probably null
Transcript: ENSMUST00000227607

Predicted Effect

probably null
Transcript: ENSMUST00000227607

Predicted Effect

probably benign
Transcript: ENSMUST00000227745
AA Change: C30R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000228412
AA Change: C30R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227754

Meta Mutation Damage Score

0.0977

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	A	T	X: 77,414,288 (GRCm39)	I338F	probably damaging	Het
Acd	A	G	8: 106,425,470 (GRCm39)	S288P	probably benign	Het
Aimp2	T	C	5: 143,846,553 (GRCm39)		probably benign	Het
Atp8b2	T	C	3: 89,865,600 (GRCm39)	D100G	probably damaging	Het
Cacna1i	A	T	15: 80,258,968 (GRCm39)	I1226F	probably damaging	Het
Dsp	C	A	13: 38,376,224 (GRCm39)	N1336K	possibly damaging	Het
Extl2	T	C	3: 115,820,906 (GRCm39)	F251S	probably damaging	Het
Gusb	T	C	5: 130,029,343 (GRCm39)	H146R	probably damaging	Het
Itpr2	C	T	6: 146,072,791 (GRCm39)	G2380S	probably damaging	Het
Kansl1l	T	C	1: 66,763,764 (GRCm39)	K762E	probably benign	Het
Krtap4-9	C	A	11: 99,676,245 (GRCm39)	C55*	probably null	Het
Lamp1	T	A	8: 13,223,891 (GRCm39)	L341H	probably damaging	Het
Llcfc1	A	T	6: 41,661,537 (GRCm39)	K29M	probably damaging	Het
Malrd1	A	T	2: 16,079,568 (GRCm39)	I1762F	unknown	Het
Muc5b	G	A	7: 141,415,291 (GRCm39)	V2746M	probably damaging	Het
Mug1	T	A	6: 121,858,802 (GRCm39)	D1173E	probably benign	Het
Myo5b	G	C	18: 74,895,689 (GRCm39)	E1782Q	probably damaging	Het
Or2t46	T	C	11: 58,471,988 (GRCm39)	F106S	possibly damaging	Het
Pcdha5	A	G	18: 37,094,940 (GRCm39)	D483G	probably damaging	Het
Phex	T	C	X: 156,093,954 (GRCm39)	I439V	probably benign	Het
Pkd1l1	T	A	11: 8,897,251 (GRCm39)	S103C	probably damaging	Het
Plekha4	C	T	7: 45,187,668 (GRCm39)	R176C	probably damaging	Het
Ppp1r3a	T	G	6: 14,718,248 (GRCm39)	S889R	possibly damaging	Het
Pramel23	G	T	4: 143,423,460 (GRCm39)	T443K	probably benign	Het
Prol1	C	A	5: 88,476,168 (GRCm39)	A186E	unknown	Het
Rbm39	C	T	2: 156,009,503 (GRCm39)	R123H	probably benign	Het
Rtn4	T	C	11: 29,643,687 (GRCm39)	S167P	probably damaging	Het
Slc35a5	A	G	16: 44,971,923 (GRCm39)	C114R	probably damaging	Het
Smoc2	T	C	17: 14,617,887 (GRCm39)		probably null	Het
Sptbn2	A	G	19: 4,798,664 (GRCm39)	T1998A	possibly damaging	Het
Tbc1d5	T	A	17: 51,242,577 (GRCm39)	E173D	probably damaging	Het
Umps	A	T	16: 33,784,240 (GRCm39)	V71E	probably damaging	Het
Vmn2r13	T	C	5: 109,339,840 (GRCm39)	D45G	possibly damaging	Het
Wdfy4	C	A	14: 32,831,476 (GRCm39)	E917*	probably null	Het
Zfhx2	T	C	14: 55,302,260 (GRCm39)	K1908R	possibly damaging	Het
Zfp511	A	C	7: 139,619,295 (GRCm39)	D204A	probably benign	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
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'- GACACCAAGATCCTGAGGAC -3'
(R):5'- CTAGGATTCTGGAGGTTCGC -3'

Sequencing Primer
(F):5'- ACAGGCATATATCTGTCTCCAC -3'
(R):5'- CCTCGAGGGCAGAAGGG -3'

Posted On

2015-01-23