Incidental Mutation 'R7464:Tulp3'
ID 578629
Institutional Source Beutler Lab
Gene Symbol Tulp3
Ensembl Gene ENSMUSG00000001521
Gene Name tubby-like protein 3
Synonyms 2310022L06Rik
MMRRC Submission 045538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7464 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 128298124-128332814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128303792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 269 (V269D)
Ref Sequence ENSEMBL: ENSMUSP00000001562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001562]
AlphaFold O88413
Predicted Effect probably benign
Transcript: ENSMUST00000001562
AA Change: V269D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: V269D

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: 98.9%
Validation Efficiency 96% (79/82)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass C T 6: 23,077,152 (GRCm39) G736R possibly damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Ankar A T 1: 72,738,053 (GRCm39) V43E possibly damaging Het
Apof A G 10: 128,105,505 (GRCm39) I220V probably benign Het
Asxl1 G T 2: 153,239,705 (GRCm39) A499S probably benign Het
Baz2a T A 10: 127,957,942 (GRCm39) D1069E possibly damaging Het
Baz2b T C 2: 59,807,792 (GRCm39) T156A possibly damaging Het
Bbc3 A T 7: 16,051,082 (GRCm39) R169W unknown Het
C5ar1 T A 7: 15,982,691 (GRCm39) I110L probably benign Het
Cd19 C A 7: 126,010,975 (GRCm39) R323L probably damaging Het
Cdc14b A T 13: 64,344,489 (GRCm39) C113* probably null Het
Cngb1 C A 8: 95,980,811 (GRCm39) W914L possibly damaging Het
Colgalt2 A G 1: 152,379,895 (GRCm39) K445E probably damaging Het
Crebrf A G 17: 26,982,461 (GRCm39) M608V unknown Het
Csf1 T A 3: 107,656,191 (GRCm39) H280L probably benign Het
Cyp2j11 C A 4: 96,233,357 (GRCm39) R113L probably damaging Het
D5Ertd579e G A 5: 36,771,129 (GRCm39) H1089Y probably damaging Het
Ddx60 C T 8: 62,393,708 (GRCm39) T48M possibly damaging Het
Defa40 T A 8: 21,739,910 (GRCm39) S45T probably damaging Het
Dock10 T C 1: 80,518,032 (GRCm39) D1315G probably damaging Het
Dock2 T G 11: 34,586,105 (GRCm39) N526H probably damaging Het
Dram2 T C 3: 106,480,999 (GRCm39) *268Q probably null Het
Emc8 A G 8: 121,394,657 (GRCm39) Y21H possibly damaging Het
Fam162a A G 16: 35,891,863 (GRCm39) L4P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxw10 T A 11: 62,744,124 (GRCm39) I307N probably benign Het
Fbxw16 A G 9: 109,268,619 (GRCm39) V257A possibly damaging Het
Fer1l6 T A 15: 58,445,096 (GRCm39) probably null Het
Galnt7 A G 8: 58,037,054 (GRCm39) Y112H possibly damaging Het
Gigyf2 T C 1: 87,356,326 (GRCm39) I803T unknown Het
Gm28729 A G 9: 96,403,288 (GRCm39) I44T possibly damaging Het
Gm5447 A G 13: 31,158,377 (GRCm39) I34V not run Het
H2-M9 A T 17: 36,953,303 (GRCm39) probably null Het
Helz G A 11: 107,527,104 (GRCm39) C864Y probably damaging Het
Il25 A G 14: 55,170,679 (GRCm39) Y84C probably null Het
Itga10 T A 3: 96,555,471 (GRCm39) C142S probably damaging Het
Kcna10 A T 3: 107,101,395 (GRCm39) M9L probably damaging Het
Klhl6 G T 16: 19,775,863 (GRCm39) Q232K possibly damaging Het
Mb21d2 T G 16: 28,748,298 (GRCm39) I40L possibly damaging Het
Mdm1 T C 10: 117,988,171 (GRCm39) S334P probably benign Het
Mllt10 T A 2: 18,175,090 (GRCm39) D549E probably benign Het
Mlxipl T C 5: 135,162,482 (GRCm39) V648A probably benign Het
Nars2 A G 7: 96,689,137 (GRCm39) K353R probably benign Het
Nav1 T A 1: 135,512,647 (GRCm39) M138L probably benign Het
Neb T C 2: 52,083,902 (GRCm39) T5635A probably benign Het
Nktr A C 9: 121,579,393 (GRCm39) I1154L unknown Het
Or14j8 A T 17: 38,263,171 (GRCm39) V248D probably damaging Het
Or2a57 T G 6: 43,213,228 (GRCm39) S229A probably damaging Het
Or4g17 T A 2: 111,209,543 (GRCm39) L66Q probably damaging Het
Oxld1 T C 11: 120,347,963 (GRCm39) D78G probably benign Het
Pde1b T C 15: 103,433,256 (GRCm39) I255T probably benign Het
Pkp4 T A 2: 59,138,481 (GRCm39) F244I probably benign Het
Polg2 C A 11: 106,664,540 (GRCm39) V305L probably benign Het
Pramel34 C T 5: 93,784,099 (GRCm39) C455Y probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Sash1 T C 10: 8,632,509 (GRCm39) D242G possibly damaging Het
Six4 T C 12: 73,159,304 (GRCm39) T219A possibly damaging Het
Slc28a3 A C 13: 58,710,835 (GRCm39) Y562* probably null Het
Soat1 A T 1: 156,266,887 (GRCm39) W310R probably damaging Het
Spef2 T C 15: 9,740,671 (GRCm39) N30D probably benign Het
Spopfm2 A T 3: 94,083,411 (GRCm39) N133K probably benign Het
Srebf2 T A 15: 82,057,075 (GRCm39) I270N probably damaging Het
St8sia3 T C 18: 64,404,589 (GRCm39) W289R probably damaging Het
Stx5a T A 19: 8,720,868 (GRCm39) probably benign Het
Tacc1 T C 8: 25,654,480 (GRCm39) D689G probably damaging Het
Tacc3 A G 5: 33,818,628 (GRCm39) D21G probably benign Het
Tapt1 G A 5: 44,346,030 (GRCm39) R307* probably null Het
Tbc1d9b T A 11: 50,022,312 (GRCm39) V16E probably damaging Het
Tchhl1 G A 3: 93,377,971 (GRCm39) R225K probably benign Het
Thumpd3 G A 6: 113,032,730 (GRCm39) G156D probably benign Het
Tmem178 C T 17: 81,252,331 (GRCm39) P72S probably benign Het
Tmem52 C T 4: 155,553,926 (GRCm39) P46S probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Ubr1 A G 2: 120,720,255 (GRCm39) probably null Het
Upf1 G A 8: 70,786,073 (GRCm39) S962L probably benign Het
Vcpip1 C T 1: 9,816,745 (GRCm39) R546Q probably damaging Het
Vmn2r49 A C 7: 9,722,820 (GRCm39) S151R probably benign Het
Wac T C 18: 7,871,746 (GRCm39) probably null Het
Wrn C T 8: 33,826,024 (GRCm39) probably null Het
Zfp286 C A 11: 62,671,627 (GRCm39) D149Y probably benign Het
Zfp748 A G 13: 67,690,091 (GRCm39) C390R probably damaging Het
Zfp873 A G 10: 81,896,210 (GRCm39) T314A possibly damaging Het
Zfyve1 C T 12: 83,598,261 (GRCm39) D656N probably benign Het
Zmym1 T A 4: 126,952,728 (GRCm39) K18* probably null Het
Other mutations in Tulp3
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7782:Tulp3 UTSW 6 128,301,943 (GRCm39) missense possibly damaging 0.69
R7883:Tulp3 UTSW 6 128,303,807 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2019-10-07