Mutagenetix > Incidental Mutation

Incidental Mutation 'R1918:Tulp2'

212711

Institutional Source

Beutler Lab

Gene Symbol

Tulp2

Ensembl Gene

ENSMUSG00000023467

Gene Name

tubby-like protein 2

Synonyms

MMRRC Submission

039936-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45481877-45523632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45517941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 188 (N188D)

Ref Sequence

ENSEMBL: ENSMUSP00000147875 (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: N244D

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

SMART Domains

Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: N244D

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: N120D

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

SMART Domains

Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: N120D

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: N132D

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

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: N132D

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: N132D

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

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: N132D

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: N244D

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

SMART Domains

Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: N244D

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

possibly damaging
Transcript: ENSMUST00000210299
AA Change: N188D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000210532

Predicted Effect

probably benign
Transcript: ENSMUST00000210813
AA Change: N132D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210868
AA Change: N132D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211413

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

97% (113/116)

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,601,627	F15S	probably damaging	Het
4930432E11Rik	T	G	7: 29,574,089		noncoding transcript	Het
4930435E12Rik	A	G	16: 38,828,088	Y220H	possibly damaging	Het
4931440F15Rik	A	G	11: 29,824,039	S473P	probably benign	Het
A2m	T	C	6: 121,644,936	S314P	probably benign	Het
Abcc9	T	A	6: 142,697,682	I47F	probably damaging	Het
Abcd2	C	T	15: 91,191,481	R43H	probably benign	Het
Adgre5	A	G	8: 83,729,109	V190A	probably damaging	Het
Aen	C	T	7: 78,906,029	H242Y	possibly damaging	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap10	T	C	8: 77,259,079	I698V	probably benign	Het
Arpp21	C	T	9: 112,119,178		probably benign	Het
Atp10a	T	C	7: 58,827,935	I1294T	possibly damaging	Het
Atp13a2	T	C	4: 140,996,371	Y337H	possibly damaging	Het
BC147527	T	C	13: 120,308,222	L26P	probably damaging	Het
Bsn	C	T	9: 108,107,573	G3094D	unknown	Het
Cadm2	G	A	16: 66,747,384		probably benign	Het
Cadps	T	C	14: 12,546,372	M495V	probably damaging	Het
Cass4	A	G	2: 172,427,339	H447R	possibly damaging	Het
Ccdc124	C	A	8: 70,868,944	R108L	probably benign	Het
Ccdc141	C	T	2: 77,014,703	R1340Q	probably benign	Het
Ccdc148	T	G	2: 58,982,899	R299S	probably damaging	Het
Ccdc36	T	A	9: 108,412,985	H140L	probably benign	Het
Cd300lg	A	G	11: 102,054,110	E382G	probably damaging	Het
Cd36	A	T	5: 17,797,036	C322*	probably null	Het
Celsr2	C	T	3: 108,398,650	G2046D	probably benign	Het
Clasrp	C	T	7: 19,585,263	W492*	probably null	Het
Cmtr1	T	C	17: 29,679,009	V154A	possibly damaging	Het
Ctnnb1	C	T	9: 120,951,034	P128S	possibly damaging	Het
Cyp11a1	A	G	9: 58,026,757	I496V	probably damaging	Het
Disp2	G	A	2: 118,791,927	V1047I	probably benign	Het
Eps8l2	T	C	7: 141,361,724	V636A	probably damaging	Het
Fars2	T	C	13: 36,204,546	L6P	probably damaging	Het
Fnip1	C	T	11: 54,480,684	T177I	probably damaging	Het
Fut8	G	T	12: 77,332,218	R31L	probably benign	Het
G6pd2	T	C	5: 61,810,321	F480L	probably benign	Het
Glipr1l2	T	A	10: 112,092,645	C148*	probably null	Het
Gm10142	G	A	10: 77,715,987	V61M	probably benign	Het
Gm12169	A	G	11: 46,528,531	D58G	possibly damaging	Het
Gm5134	T	A	10: 75,976,346	M145K	possibly damaging	Het
Gm853	A	T	4: 130,211,393	V328D	probably benign	Het
Gnpda1	T	C	18: 38,333,190		probably null	Het
Gpc2	T	C	5: 138,278,379	T162A	probably benign	Het
Gtf2h4	G	A	17: 35,670,198	L246F	possibly damaging	Het
Hal	C	T	10: 93,496,607	P294S	probably damaging	Het
Hectd3	C	T	4: 117,000,343	A573V	possibly damaging	Het
Hephl1	T	A	9: 15,076,818	I665F	probably benign	Het
Herc1	T	C	9: 66,476,126		probably null	Het
Hif1an	A	G	19: 44,571,112		probably null	Het
Il12rb1	T	A	8: 70,813,680	M223K	probably benign	Het
Ilf3	C	T	9: 21,393,714	T201M	probably damaging	Het
Inpp5f	T	C	7: 128,663,969		probably benign	Het
Jcad	T	C	18: 4,674,292	Y685H	probably damaging	Het
Kcnj1	C	A	9: 32,396,738	Q153K	probably benign	Het
Kctd18	A	C	1: 57,959,220	H73Q	probably damaging	Het
Klhl36	T	A	8: 119,876,724	W573R	probably damaging	Het
Lepr	A	G	4: 101,772,836	T583A	probably benign	Het
Ltbp4	G	A	7: 27,337,569		probably benign	Het
Mapt	A	T	11: 104,298,499	E114D	probably benign	Het
Mib1	T	A	18: 10,740,972		probably null	Het
Mthfd1	G	T	12: 76,314,976	A119S	probably damaging	Het
Mylk4	A	T	13: 32,724,853	D90E	probably benign	Het
Nceh1	T	G	3: 27,183,175	L33R	probably damaging	Het
Nfat5	T	C	8: 107,366,236	I91T	probably damaging	Het
Nxn	A	G	11: 76,261,672		probably benign	Het
Oasl1	G	A	5: 114,923,469	A20T	possibly damaging	Het
Olfr1262	T	C	2: 90,002,574	F56S	probably benign	Het
Olfr141	C	T	2: 86,806,827	M57I	probably damaging	Het
Olfr1428	A	G	19: 12,109,507	V13A	probably benign	Het
Olfr1447	A	G	19: 12,900,851	*310Q	probably null	Het
Olfr164	A	T	16: 19,286,302	M147K	probably benign	Het
Olfr791	T	A	10: 129,527,049	V274D	probably damaging	Het
Pepd	T	C	7: 34,971,676	V215A	probably benign	Het
Pfkl	A	T	10: 78,001,426	N104K	probably damaging	Het
Phf24	T	C	4: 42,938,165		probably benign	Het
Pink1	T	C	4: 138,314,020	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119	D338G	probably damaging	Het
Ppp1r13b	A	G	12: 111,834,810	V480A	probably damaging	Het
Ptgfrn	A	T	3: 101,056,307	I663N	probably benign	Het
Rad54b	A	C	4: 11,601,693	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114	S200P	possibly damaging	Het
Rbm33	T	A	5: 28,387,917	I605N	probably damaging	Het
Rps19bp1	T	C	15: 80,264,079	T31A	probably benign	Het
Ryr2	T	A	13: 11,556,698	T4885S	possibly damaging	Het
Serpinb6b	A	G	13: 32,978,240	I222V	probably benign	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Skor2	T	C	18: 76,859,356	S258P	unknown	Het
Slc22a29	C	T	19: 8,217,759		probably null	Het
Slc8a3	A	T	12: 81,314,844	F400L	probably damaging	Het
Slc9a8	T	C	2: 167,424,214	I37T	possibly damaging	Het
Smchd1	A	G	17: 71,407,237	I877T	possibly damaging	Het
Spag5	A	G	11: 78,304,176	N103S	probably benign	Het
Sptbn1	A	T	11: 30,142,414	F450L	probably damaging	Het
Strn4	T	A	7: 16,833,921	Y507N	probably damaging	Het
Stxbp5	C	A	10: 9,812,298	V420F	possibly damaging	Het
Syt17	G	T	7: 118,433,985	L267I	possibly damaging	Het
Tdo2	T	A	3: 81,958,940	R339W	probably damaging	Het
Ttn	A	G	2: 76,741,401	S26383P	probably damaging	Het
Ttn	G	T	2: 76,808,524	T13938K	probably damaging	Het
Ube3c	C	T	5: 29,587,317	R37C	probably damaging	Het
Uggt2	G	T	14: 119,008,055		probably benign	Het
Umodl1	G	A	17: 30,984,043	V457M	probably damaging	Het
Usp17la	C	T	7: 104,860,746	T186I	probably benign	Het
Vmn1r226	T	C	17: 20,687,580	S25P	probably damaging	Het
Vmn1r235	T	A	17: 21,262,397	I328K	possibly damaging	Het
Vmn2r50	A	T	7: 10,047,683	S378R	probably benign	Het
Vwa2	C	T	19: 56,908,934	T557I	probably benign	Het
Wdr60	A	C	12: 116,232,601	S509A	probably damaging	Het
Yes1	G	T	5: 32,684,735	Q534H	probably benign	Het
Zbtb25	A	T	12: 76,349,301	Y382*	probably null	Het
Zc3h3	G	A	15: 75,777,118	P722S	probably damaging	Het
Zfp36l2	T	C	17: 84,186,736	T158A	probably damaging	Het
Zfp536	T	C	7: 37,480,199	T994A	probably damaging	Het
Zfp592	C	T	7: 81,037,420	Q824*	probably null	Het
Zfp629	C	A	7: 127,612,000	K212N	probably damaging	Het
Zfp930	C	A	8: 69,228,705	Q350K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGACCTGTAGCTGCTTCTGC -3'
(R):5'- GTCTCTATGAGTCGGTATCTGACC -3'

Sequencing Primer
(F):5'- GTAGCTGCTTCTGCCCCTTAGG -3'
(R):5'- AGAGAGTCTCCTTATGTATCTCAGG -3'

Posted On

2014-07-14