Mutagenetix > Incidental Mutation

Incidental Mutation 'R7883:Tulp3'

608883

Institutional Source

Beutler Lab

Gene Symbol

Tulp3

Ensembl Gene

ENSMUSG00000001521

Gene Name

tubby-like protein 3

Synonyms

2310022L06Rik

MMRRC Submission

045935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128298124-128332814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128303807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 264 (T264M)

Ref Sequence

ENSEMBL: ENSMUSP00000001562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001562]

AlphaFold

O88413

Predicted Effect

probably damaging
Transcript: ENSMUST00000001562
AA Change: T264M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: T264M

Domain	Start	End	E-Value	Type
Pfam:Tub_N	30	84	1.7e-23	PFAM
Pfam:Tub_N	76	198	5.5e-16	PFAM
Pfam:Tub	213	454	1e-87	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos. [provided by MGI curators]

Allele List at MGI

All alleles(35) : Targeted, other(3) Gene trapped(31) Chemically induced(1)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	A	T	4: 124,744,440 (GRCm39)	W5R	unknown	Het
Abcb6	A	T	1: 75,154,660 (GRCm39)	S258R	possibly damaging	Het
Abcc10	A	G	17: 46,618,027 (GRCm39)	V1082A	probably benign	Het
Adrb2	A	G	18: 62,312,447 (GRCm39)	V126A	probably damaging	Het
Apol11a	A	G	15: 77,400,774 (GRCm39)	E87G	probably damaging	Het
Arhgap45	T	A	10: 79,863,423 (GRCm39)	C755*	probably null	Het
Arl13b	A	T	16: 62,647,629 (GRCm39)	I93K	probably damaging	Het
Aspm	A	G	1: 139,406,405 (GRCm39)	K1764R	possibly damaging	Het
Atp8b5	A	G	4: 43,342,471 (GRCm39)	I381V	probably damaging	Het
Atxn2	A	G	5: 121,940,180 (GRCm39)	H985R	possibly damaging	Het
Bms1	G	T	6: 118,365,735 (GRCm39)	N1150K	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camta2	T	C	11: 70,566,037 (GRCm39)	D749G	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cep152	G	A	2: 125,454,978 (GRCm39)	A274V	possibly damaging	Het
Chd7	A	G	4: 8,826,504 (GRCm39)	N956S	probably damaging	Het
Cpt1c	A	T	7: 44,613,438 (GRCm39)		probably null	Het
Cttn	C	T	7: 143,999,555 (GRCm39)	V338I	probably benign	Het
Dab2ip	G	A	2: 35,610,218 (GRCm39)	G811D	possibly damaging	Het
Dmtf1	T	C	5: 9,190,397 (GRCm39)	T106A	probably benign	Het
Dync2h1	T	C	9: 7,005,566 (GRCm39)	E3768G	possibly damaging	Het
Exoc1	T	A	5: 76,709,229 (GRCm39)	D612E	probably damaging	Het
Fat2	T	C	11: 55,144,190 (GRCm39)		probably null	Het
Fat4	G	A	3: 39,035,968 (GRCm39)	E3207K	probably damaging	Het
Fbxw18	A	G	9: 109,517,474 (GRCm39)	Y410H	probably damaging	Het
Fgfr3	T	A	5: 33,891,235 (GRCm39)	S518T	probably damaging	Het
Fzr1	G	A	10: 81,204,469 (GRCm39)	T377M	probably damaging	Het
Gcnt3	T	A	9: 69,941,453 (GRCm39)	I372F	probably damaging	Het
Gm10577	A	T	4: 100,877,719 (GRCm39)	Y59N	unknown	Het
Gm826	A	G	2: 160,169,213 (GRCm39)	L32P	unknown	Het
Grid1	T	G	14: 35,172,259 (GRCm39)		probably null	Het
Hid1	T	A	11: 115,245,435 (GRCm39)	T457S	probably damaging	Het
Hsd3b5	A	G	3: 98,529,456 (GRCm39)	V58A	probably benign	Het
Iqcj	A	G	3: 67,954,641 (GRCm39)	K49E	probably damaging	Het
Itpk1	A	G	12: 102,572,434 (GRCm39)	V93A	probably benign	Het
Kcnt2	A	G	1: 140,450,888 (GRCm39)	I722M	probably damaging	Het
Klhl36	T	C	8: 120,601,217 (GRCm39)	V412A	possibly damaging	Het
Krt18	G	A	15: 101,936,885 (GRCm39)	V58M	possibly damaging	Het
Lats2	T	C	14: 57,934,657 (GRCm39)	Y691C	probably damaging	Het
Lrp1b	A	T	2: 40,555,141 (GRCm39)	I4095N		Het
Map1a	A	G	2: 121,135,853 (GRCm39)	E2223G	probably damaging	Het
Med25	A	G	7: 44,541,232 (GRCm39)	F94L	possibly damaging	Het
Mertk	A	G	2: 128,618,265 (GRCm39)	I499V	probably benign	Het
Mrps12	A	G	7: 28,439,568 (GRCm39)	L49P	probably benign	Het
Nwd1	T	A	8: 73,393,754 (GRCm39)	V339D	probably damaging	Het
Obscn	G	A	11: 58,960,835 (GRCm39)	Q3159*	probably null	Het
Patj	G	A	4: 98,499,372 (GRCm39)	V1349I	probably benign	Het
Pcdha8	T	A	18: 37,126,196 (GRCm39)	V226D	probably damaging	Het
Pdgfd	T	A	9: 6,293,939 (GRCm39)		probably null	Het
Pdzd7	A	C	19: 45,018,679 (GRCm39)	I600S	probably damaging	Het
Pgpep1l	G	A	7: 67,888,897 (GRCm39)	R45*	probably null	Het
Pik3c3	T	C	18: 30,407,416 (GRCm39)	S55P	probably benign	Het
Pkhd1l1	A	T	15: 44,392,522 (GRCm39)	D1619V	probably damaging	Het
Pkp1	A	G	1: 135,812,641 (GRCm39)		probably null	Het
Ppan	T	A	9: 20,802,777 (GRCm39)	I311N	probably benign	Het
Ppih	C	A	4: 119,167,987 (GRCm39)	G175W	probably damaging	Het
Ppp1r8	G	T	4: 132,562,026 (GRCm39)	Q65K	probably damaging	Het
Psmd5	T	A	2: 34,746,524 (GRCm39)	K351M	possibly damaging	Het
Pth1r	T	C	9: 110,560,626 (GRCm39)	K53R	probably benign	Het
Ptprn	A	T	1: 75,239,007 (GRCm39)	F9L	probably damaging	Het
Rgl3	T	C	9: 21,892,723 (GRCm39)	I288V	probably benign	Het
Sds	A	G	5: 120,617,278 (GRCm39)	I45V	possibly damaging	Het
Sfxn4	A	T	19: 60,847,187 (GRCm39)		probably null	Het
Sis	A	T	3: 72,828,329 (GRCm39)	C1220S	possibly damaging	Het
Slc22a16	T	G	10: 40,479,660 (GRCm39)	D577E	probably benign	Het
Slc25a10	T	A	11: 120,385,340 (GRCm39)	M43K	possibly damaging	Het
Smpd1	T	C	7: 105,206,192 (GRCm39)	I440T	probably damaging	Het
Spata6l	A	C	19: 28,906,013 (GRCm39)	S297A	probably benign	Het
St6galnac6	A	G	2: 32,504,941 (GRCm39)	N151S	probably benign	Het
Taf4	G	T	2: 179,571,088 (GRCm39)	L742M	probably damaging	Het
Tctn1	A	G	5: 122,402,375 (GRCm39)	S20P	possibly damaging	Het
Tkfc	A	T	19: 10,572,394 (GRCm39)		probably null	Het
Tmem270	A	G	5: 134,931,681 (GRCm39)	V87A	possibly damaging	Het
Tpo	T	C	12: 30,153,169 (GRCm39)	H395R	probably damaging	Het
Tufm	T	C	7: 126,088,114 (GRCm39)	F206L	possibly damaging	Het
Tulp2	A	G	7: 45,166,188 (GRCm39)		probably null	Het
Uqcrc2	A	G	7: 120,244,440 (GRCm39)	D194G	possibly damaging	Het
Vill	C	A	9: 118,894,589 (GRCm39)	C415*	probably null	Het
Zfp799	A	G	17: 33,039,256 (GRCm39)	C337R	probably damaging	Het
Zhx2	A	G	15: 57,685,270 (GRCm39)	E213G	possibly damaging	Het

Other mutations in Tulp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Tulp3	APN	6	128,302,847 (GRCm39)	missense	probably damaging	0.99
IGL01327:Tulp3	APN	6	128,304,597 (GRCm39)	missense	probably damaging	1.00
IGL01382:Tulp3	APN	6	128,302,033 (GRCm39)	missense	probably damaging	1.00
IGL01633:Tulp3	APN	6	128,302,923 (GRCm39)	missense	probably damaging	1.00
IGL02228:Tulp3	APN	6	128,311,448 (GRCm39)	missense	probably damaging	1.00
IGL02372:Tulp3	APN	6	128,304,561 (GRCm39)	missense	possibly damaging	0.92
D4043:Tulp3	UTSW	6	128,301,113 (GRCm39)	missense	probably benign	0.06
R0243:Tulp3	UTSW	6	128,302,921 (GRCm39)	nonsense	probably null
R1181:Tulp3	UTSW	6	128,302,915 (GRCm39)	missense	possibly damaging	0.47
R1673:Tulp3	UTSW	6	128,310,906 (GRCm39)	splice site	probably null
R1749:Tulp3	UTSW	6	128,314,722 (GRCm39)	missense	probably damaging	1.00
R1984:Tulp3	UTSW	6	128,303,769 (GRCm39)	missense	probably benign	0.02
R1985:Tulp3	UTSW	6	128,303,769 (GRCm39)	missense	probably benign	0.02
R2568:Tulp3	UTSW	6	128,304,601 (GRCm39)	missense	probably benign	0.00
R4660:Tulp3	UTSW	6	128,300,017 (GRCm39)	utr 3 prime	probably benign
R4779:Tulp3	UTSW	6	128,300,083 (GRCm39)	missense	probably damaging	1.00
R5001:Tulp3	UTSW	6	128,302,031 (GRCm39)	missense	probably damaging	1.00
R6192:Tulp3	UTSW	6	128,332,703 (GRCm39)	splice site	probably null
R6242:Tulp3	UTSW	6	128,300,050 (GRCm39)	missense	probably damaging	1.00
R7464:Tulp3	UTSW	6	128,303,792 (GRCm39)	missense	probably benign	0.00
R7782:Tulp3	UTSW	6	128,301,943 (GRCm39)	missense	possibly damaging	0.69
R8027:Tulp3	UTSW	6	128,311,436 (GRCm39)	missense	probably benign	0.00
R8235:Tulp3	UTSW	6	128,304,640 (GRCm39)	missense	probably benign	0.00
R8919:Tulp3	UTSW	6	128,310,966 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GGTAGAAGCTGACCAGACTG -3'
(R):5'- TCATGTGGAGAAGTGTTTCCC -3'

Sequencing Primer
(F):5'- TGACCAGACTGCAGGGTG -3'
(R):5'- AGACAGGATCTCTTTACGTAGGCC -3'

Posted On

2019-12-20