Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Tulp2'

536372

Institutional Source

Beutler Lab

Gene Symbol

Tulp2

Ensembl Gene

ENSMUSG00000023467

Gene Name

tubby-like protein 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45481877-45523632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45518614 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 150 (T150K)

Ref Sequence

ENSEMBL: ENSMUSP00000147710 (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 benign
Transcript: ENSMUST00000024233
AA Change: T262K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: T262K

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: ENSMUST00000085331
AA Change: T138K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: T138K

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 benign
Transcript: ENSMUST00000107758
AA Change: T150K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: T150K

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: T150K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: T150K

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 benign
Transcript: ENSMUST00000107762
AA Change: T262K

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: T262K

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 benign
Transcript: ENSMUST00000210813
AA Change: T150K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000210868
AA Change: T150K

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000211212

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,068	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,701,628	I336T	probably benign	Het
Adam19	T	A	11: 46,112,875	F177I	probably benign	Het
Ankrd53	T	C	6: 83,768,173	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,925,665	S415P	probably benign	Het
Atp10a	T	C	7: 58,797,352	L614P	probably benign	Het
C130060K24Rik	A	T	6: 65,456,336	N380I	probably benign	Het
Catsper1	G	T	19: 5,343,963	V668F	probably damaging	Het
Cluh	T	A	11: 74,661,918	D596E	probably damaging	Het
Cnot10	A	G	9: 114,615,107	S407P	probably benign	Het
Commd6	T	C	14: 101,634,350	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,604,657		probably null	Het
Eif3l	A	G	15: 79,085,560	D252G	probably damaging	Het
Epha2	A	T	4: 141,328,468	S962C	probably damaging	Het
Fcho1	C	A	8: 71,714,425		probably null	Het
Fgf23	G	T	6: 127,073,216	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,749	Y834F	probably damaging	Het
Gcn1l1	T	C	5: 115,588,110	L608P	probably damaging	Het
Hdac5	T	A	11: 102,202,276	E545V	probably damaging	Het
Hecw2	A	T	1: 53,937,132	M166K	probably benign	Het
Ikbkb	T	C	8: 22,665,893	D586G	probably damaging	Het
Il1f9	G	C	2: 24,188,621		probably null	Het
Ipo13	A	T	4: 117,904,911	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771		probably null	Het
Kat6a	G	A	8: 22,932,361	A896T	probably benign	Het
Kif28	A	G	1: 179,735,994	I139T	probably damaging	Het
Klhl25	A	G	7: 75,866,342	E332G	probably damaging	Het
Krt8	C	T	15: 101,997,908	A389T	probably benign	Het
Msrb3	T	C	10: 120,784,106	S175G	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myo10	T	C	15: 25,805,659	Y1709H	probably benign	Het
Nckap5	A	G	1: 126,023,194	S1519P	probably benign	Het
Npnt	T	A	3: 132,909,910	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,770,836		probably null	Het
Ogdh	A	G	11: 6,340,477	Y365C	probably benign	Het
Olfr1305	A	T	2: 111,872,961	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,787,446	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,471,438	S373P	probably damaging	Het
Rab28	T	C	5: 41,703,534	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 180,279,226	I455T	probably benign	Het
Rnft2	G	A	5: 118,228,818	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,672,371	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn5a	A	G	9: 119,486,644	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,355,200	T318P	probably benign	Het
Slc22a1	C	T	17: 12,667,305	W147*	probably null	Het
Smchd1	T	C	17: 71,353,506	I1868V	probably damaging	Het
Snx21	A	G	2: 164,791,902	S203G	probably damaging	Het
Srl	T	C	16: 4,482,831	K792R	probably benign	Het
Srrt	A	G	5: 137,298,673	F100S	probably benign	Het
Stard9	G	T	2: 120,697,436	M1391I	probably benign	Het
Syne2	A	G	12: 76,035,630	E119G	probably damaging	Het
Syt11	G	T	3: 88,762,155	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,531,642	H126Q	probably benign	Het
Ugt2b37	T	A	5: 87,242,429	Y386F	probably benign	Het
Usp31	C	T	7: 121,649,640	W860*	probably null	Het
Zfp317	A	G	9: 19,643,665	R30G	probably damaging	Het
Zfp709	C	A	8: 71,889,007	N93K	possibly 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
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
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'- AGTCAACAGATGTGCCAACTG -3'
(R):5'- ATGCCGTGCTTGTTTCGGAC -3'

Sequencing Primer
(F):5'- ATGTGCCAACTGGATCAGGC -3'
(R):5'- TTTCGGACGATGCGGCAC -3'

Posted On

2018-10-18