Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03242:Tulp2'

414901

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tulp2

Ensembl Gene

ENSMUSG00000023467

Gene Name

tubby-like protein 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL03242

Quality Score

Status

Chromosome

Chromosomal Location

45481877-45523632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45521858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 354 (I354M)

Ref Sequence

ENSEMBL: ENSMUSP00000103388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024233] [ENSMUST00000042105] [ENSMUST00000051810] [ENSMUST00000085331] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000107762] [ENSMUST00000167273] [ENSMUST00000210299] [ENSMUST00000210813] [ENSMUST00000210868] [ENSMUST00000211212] [ENSMUST00000211227]

AlphaFold

P46686

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024233
AA Change: I466M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: I466M

Domain	Start	End	E-Value	Type
low complexity region	67	77	N/A	INTRINSIC
low complexity region	212	220	N/A	INTRINSIC
Pfam:Tub	315	556	1.1e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042105

SMART Domains

Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435

Domain	Start	End	E-Value	Type
low complexity region	149	160	N/A	INTRINSIC
low complexity region	225	234	N/A	INTRINSIC
internal_repeat_1	245	333	1.03e-15	PROSPERO
low complexity region	334	351	N/A	INTRINSIC
internal_repeat_1	357	447	1.03e-15	PROSPERO
low complexity region	448	459	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
Pfam:PP1c_bdg	536	612	8.2e-15	PFAM
low complexity region	636	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051810

SMART Domains

Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
PH	55	155	8.18e-19	SMART
low complexity region	162	190	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	321	334	N/A	INTRINSIC
coiled coil region	376	419	N/A	INTRINSIC
low complexity region	519	535	N/A	INTRINSIC
low complexity region	608	628	N/A	INTRINSIC
low complexity region	649	659	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085331
AA Change: I342M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: I342M

Domain	Start	End	E-Value	Type
low complexity region	88	96	N/A	INTRINSIC
Pfam:Tub	191	432	6.2e-117	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107758
AA Change: I361M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: I361M

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	451	4.1e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107759
AA Change: I354M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: I354M

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	444	3.4e-117	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107762
AA Change: I466M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: I466M

Domain	Start	End	E-Value	Type
Pfam:Tub_N	39	295	8.8e-36	PFAM
Pfam:Tub	315	556	1.3e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167273

SMART Domains

Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435

Domain	Start	End	E-Value	Type
low complexity region	149	160	N/A	INTRINSIC
low complexity region	225	234	N/A	INTRINSIC
internal_repeat_1	245	333	1.03e-15	PROSPERO
low complexity region	334	351	N/A	INTRINSIC
internal_repeat_1	357	447	1.03e-15	PROSPERO
low complexity region	448	459	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
Pfam:PP1c_bdg	531	612	1.1e-20	PFAM
low complexity region	636	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210299

Predicted Effect

probably damaging
Transcript: ENSMUST00000210813
AA Change: I361M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210868
AA Change: I354M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000211212

Predicted Effect

probably benign
Transcript: ENSMUST00000211227

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,932,545	F575L	possibly damaging	Het
4930562C15Rik	T	C	16: 4,849,325	W221R	unknown	Het
Ank2	A	G	3: 126,928,805	F1000L	possibly damaging	Het
Bahcc1	T	C	11: 120,268,300		probably benign	Het
BC024139	T	C	15: 76,120,320	M679V	probably benign	Het
BC027072	A	G	17: 71,750,271	S804P	probably benign	Het
Carmil2	A	G	8: 105,691,320		probably benign	Het
Catsperg2	A	G	7: 29,725,479		probably benign	Het
Chrnb4	A	T	9: 55,035,528	I154K	probably damaging	Het
Clec2e	A	C	6: 129,095,026	L130W	probably damaging	Het
Coro2b	G	T	9: 62,428,961	Y281*	probably null	Het
Dlk2	A	G	17: 46,302,977	Y386C	probably benign	Het
Dnah7a	A	T	1: 53,620,723	F709I	probably benign	Het
Exoc1	T	C	5: 76,559,007	L467P	probably damaging	Het
Fkbp2	A	G	19: 6,978,612	V75A	probably benign	Het
Glud1	T	C	14: 34,334,280	F304L	probably benign	Het
Gm11639	A	C	11: 105,106,404	E140A	probably damaging	Het
Gsr	T	A	8: 33,685,599	V291E	probably benign	Het
Kap	A	G	6: 133,851,800		probably benign	Het
Kmt2a	G	T	9: 44,848,392	T720N	probably damaging	Het
Lrrtm4	T	C	6: 80,022,088	I161T	probably benign	Het
Lyst	T	A	13: 13,656,881	L1630*	probably null	Het
Med13l	A	G	5: 118,747,445	S1488G	probably benign	Het
Mlxip	A	G	5: 123,440,061	K147E	probably damaging	Het
Nalcn	T	C	14: 123,321,487	E810G	possibly damaging	Het
Olfr474	T	C	7: 107,955,481	V280A	possibly damaging	Het
Olfr683	G	A	7: 105,144,266	S15F	probably benign	Het
Olfr710	A	G	7: 106,944,918	F28L	possibly damaging	Het
Piezo2	T	C	18: 63,011,538		probably benign	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Serpina3j	G	A	12: 104,319,701	A372T	possibly damaging	Het
Slc28a3	G	A	13: 58,574,249	Q274*	probably null	Het
Ssfa2	C	T	2: 79,643,471	R189*	probably null	Het
Stk36	T	C	1: 74,623,352	F543S	possibly damaging	Het
Tfrc	T	C	16: 32,630,112	S690P	probably damaging	Het
Tg	C	A	15: 66,683,798	Q780K	probably damaging	Het
Top1	T	A	2: 160,715,733	H578Q	probably damaging	Het
Treh	A	G	9: 44,685,337	T463A	possibly damaging	Het
Treml1	G	A	17: 48,365,988		probably benign	Het
Trpm2	A	G	10: 77,917,734	V1312A	probably benign	Het
Ttc41	T	A	10: 86,776,819	*1319K	probably null	Het
Ugt2b35	T	C	5: 87,007,395	L363P	probably damaging	Het
Usp13	A	T	3: 32,902,069	M496L	probably benign	Het
Virma	T	C	4: 11,527,669	S1187P	possibly damaging	Het
Wdr76	T	A	2: 121,542,470	C593S	probably damaging	Het
Zfp446	G	A	7: 12,979,325	A97T	probably damaging	Het

Other mutations in Tulp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Tulp2	APN	7	45521908	missense	probably damaging	1.00
IGL00942:Tulp2	APN	7	45516268	missense	possibly damaging	0.87
IGL01881:Tulp2	APN	7	45520795	missense	probably damaging	1.00
IGL03240:Tulp2	APN	7	45522310	missense	probably damaging	1.00
IGL03353:Tulp2	APN	7	45516272	missense	probably damaging	1.00
R0063:Tulp2	UTSW	7	45520860	unclassified	probably benign
R0063:Tulp2	UTSW	7	45520860	unclassified	probably benign
R0306:Tulp2	UTSW	7	45518576	unclassified	probably benign
R0648:Tulp2	UTSW	7	45519786	missense	probably damaging	1.00
R0710:Tulp2	UTSW	7	45520808	missense	possibly damaging	0.92
R1168:Tulp2	UTSW	7	45517842	missense	probably benign
R1345:Tulp2	UTSW	7	45518721	missense	probably benign	0.13
R1737:Tulp2	UTSW	7	45519777	missense	probably damaging	1.00
R1854:Tulp2	UTSW	7	45517943	missense	probably damaging	0.98
R1918:Tulp2	UTSW	7	45517941	missense	possibly damaging	0.95
R2356:Tulp2	UTSW	7	45518628	missense	possibly damaging	0.85
R3012:Tulp2	UTSW	7	45518763	missense	probably damaging	1.00
R3419:Tulp2	UTSW	7	45518752	missense	possibly damaging	0.56
R4236:Tulp2	UTSW	7	45521874	missense	probably damaging	1.00
R4701:Tulp2	UTSW	7	45517924	missense	probably damaging	0.98
R5367:Tulp2	UTSW	7	45516651	missense	possibly damaging	0.95
R6056:Tulp2	UTSW	7	45490373	splice site	probably null
R6294:Tulp2	UTSW	7	45514692	missense	probably damaging	1.00
R6432:Tulp2	UTSW	7	45518588	missense	probably benign	0.01
R6875:Tulp2	UTSW	7	45518614	missense	probably benign	0.05
R7459:Tulp2	UTSW	7	45519803	missense	probably damaging	1.00
R7556:Tulp2	UTSW	7	45518581	splice site	probably null
R7676:Tulp2	UTSW	7	45521027	missense	possibly damaging	0.86
R7883:Tulp2	UTSW	7	45516764	splice site	probably null
R8775:Tulp2	UTSW	7	45515490	missense	probably benign
R8775-TAIL:Tulp2	UTSW	7	45515490	missense	probably benign
R8804:Tulp2	UTSW	7	45520974	missense	probably damaging	1.00
Z1088:Tulp2	UTSW	7	45521986	missense	probably damaging	1.00

Posted On

2016-08-02