Mutagenetix > Incidental Mutation

Incidental Mutation 'R3012:Tulp2'

257532

Institutional Source

Beutler Lab

Gene Symbol

Tulp2

Ensembl Gene

ENSMUSG00000023467

Gene Name

tubby-like protein 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R3012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45481877-45523632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45518763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 188 (V188L)

Ref Sequence

ENSEMBL: ENSMUSP00000082438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024233] [ENSMUST00000042105] [ENSMUST00000085331] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000107762] [ENSMUST00000167273] [ENSMUST00000209763] [ENSMUST00000210299] [ENSMUST00000210532] [ENSMUST00000210813] [ENSMUST00000210868] [ENSMUST00000211212]

AlphaFold

P46686

Predicted Effect

probably damaging
Transcript: ENSMUST00000024233
AA Change: V312L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: V312L

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 damaging
Transcript: ENSMUST00000085331
AA Change: V188L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: V188L

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: V200L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: V200L

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 benign
Transcript: ENSMUST00000107759
AA Change: V200L

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: V200L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107760
AA Change: V200L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103389
Gene: ENSMUSG00000023467
AA Change: V200L

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	451	1.5e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107761
AA Change: V200L

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103390
Gene: ENSMUSG00000023467
AA Change: V200L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107762
AA Change: V312L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: V312L

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: ENSMUST00000209763

Predicted Effect

probably benign
Transcript: ENSMUST00000210299

Predicted Effect

probably benign
Transcript: ENSMUST00000210532

Predicted Effect

probably damaging
Transcript: ENSMUST00000210813
AA Change: V200L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000210868
AA Change: V200L

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211413

Predicted Effect

probably benign
Transcript: ENSMUST00000211212

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	G	T	19: 40,557,691	Y585*	probably null	Het
Ankrd17	G	A	5: 90,230,868	P2563S	probably damaging	Het
Atg10	A	T	13: 91,154,278	F47Y	probably damaging	Het
Ccdc39	C	T	3: 33,814,668	R798Q	probably damaging	Het
Cfi	A	G	3: 129,874,930	D535G	probably damaging	Het
Dgat1	T	A	15: 76,503,393	Q308H	possibly damaging	Het
Dsp	T	C	13: 38,193,342	I1701T	possibly damaging	Het
E330009J07Rik	T	C	6: 40,435,992	E45G	probably benign	Het
Egr2	GAA	GA	10: 67,539,903		probably null	Het
Fes	G	C	7: 80,387,167	S56R	possibly damaging	Het
Gria1	G	A	11: 57,289,434	V737M	probably damaging	Het
Gtf2h1	A	G	7: 46,803,895	H84R	probably damaging	Het
Ifi208	A	G	1: 173,695,570		probably null	Het
Il15	T	A	8: 82,344,420	N22I	probably damaging	Het
Me1	A	G	9: 86,611,912	S323P	probably benign	Het
Olfr713	T	C	7: 107,036,362	F69S	possibly damaging	Het
Parp4	T	C	14: 56,595,416		probably null	Het
Pcdhga7	A	G	18: 37,715,638	T233A	probably benign	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rpe65	G	T	3: 159,604,563	V128F	possibly damaging	Het
Slc5a11	GGTGC	G	7: 123,239,372		probably null	Het
Tbc1d32	A	G	10: 56,173,915	V509A	probably benign	Het
Tln1	T	A	4: 43,542,525	T1428S	probably benign	Het
Ttc27	A	T	17: 74,840,459	I669F	probably benign	Het
Tubb3	T	G	8: 123,421,236	C303G	probably damaging	Het
Zfr	T	C	15: 12,166,163	Y840H	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
IGL03242:Tulp2	APN	7	45521858	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GCACTTGAATTAGGATGAAGACCG -3'
(R):5'- AGCCATCTTCCTACGATTTGG -3'

Sequencing Primer
(F):5'- TGAATTAGGATGAAGACCGGGAGAAG -3'
(R):5'- CCATCTTCCTACGATTTGGGGTTTG -3'

Posted On

2015-01-11