Incidental Mutation 'R2568:Tulp3'
ID 254627
Institutional Source Beutler Lab
Gene Symbol Tulp3
Ensembl Gene ENSMUSG00000001521
Gene Name tubby-like protein 3
Synonyms 2310022L06Rik
MMRRC Submission 040427-MU
Accession Numbers

Genbank: NM_011657; MGI: 1329045

Essential gene? Essential (E-score: 1.000) question?
Stock # R2568 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 128321161-128355851 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128327638 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 218 (V218I)
Ref Sequence ENSEMBL: ENSMUSP00000001562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001562]
AlphaFold O88413
Predicted Effect probably benign
Transcript: ENSMUST00000001562
AA Change: V218I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: V218I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138313
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,201,269 (GRCm38) V1010A possibly damaging Het
4930563D23Rik A G 16: 92,321,319 (GRCm38) L27P probably damaging Het
A730071L15Rik A T 11: 6,200,161 (GRCm38) probably benign Het
Abca13 A T 11: 9,333,310 (GRCm38) N3244I probably benign Het
Adgrf5 A G 17: 43,437,671 (GRCm38) T219A probably damaging Het
Adgrg5 A T 8: 94,934,021 (GRCm38) N92I probably damaging Het
Agt A C 8: 124,556,955 (GRCm38) V475G probably damaging Het
Akap6 A G 12: 52,887,278 (GRCm38) K518E possibly damaging Het
Apoh T G 11: 108,404,871 (GRCm38) D133E probably benign Het
Axdnd1 T A 1: 156,392,749 (GRCm38) M234L possibly damaging Het
Cacna1d A G 14: 30,082,511 (GRCm38) I1335T probably damaging Het
Cdh15 G A 8: 122,862,024 (GRCm38) R279Q probably damaging Het
Cfap206 T A 4: 34,711,566 (GRCm38) K444* probably null Het
Clasp2 A G 9: 113,878,764 (GRCm38) I614M probably benign Het
Col6a4 A T 9: 106,063,076 (GRCm38) D1218E possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 (GRCm38) probably null Het
D130043K22Rik C T 13: 24,883,891 (GRCm38) T870M probably damaging Het
Dagla C A 19: 10,248,152 (GRCm38) A883S probably benign Het
Dhx30 A G 9: 110,097,195 (GRCm38) V87A probably damaging Het
Dtx1 C A 5: 120,710,184 (GRCm38) V44L possibly damaging Het
Ecm2 T A 13: 49,530,129 (GRCm38) S528T possibly damaging Het
Egfem1 A T 3: 29,582,931 (GRCm38) N172I probably damaging Het
Fam102b T A 3: 108,978,848 (GRCm38) N356I probably benign Het
Fam13a T G 6: 58,935,609 (GRCm38) R686S probably damaging Het
Fmo1 T A 1: 162,836,259 (GRCm38) I234L probably benign Het
Foxj2 C T 6: 122,828,372 (GRCm38) R68W probably damaging Het
Foxo6 A T 4: 120,268,764 (GRCm38) M278K probably benign Het
Fsip2 A G 2: 82,990,431 (GRCm38) S5503G probably benign Het
Gdf5 C G 2: 155,942,090 (GRCm38) R100G probably benign Het
Il1b A T 2: 129,367,322 (GRCm38) D129E probably damaging Het
Klhl29 A G 12: 5,091,350 (GRCm38) S545P probably damaging Het
Krt83 G T 15: 101,487,827 (GRCm38) R296S possibly damaging Het
Llgl1 T G 11: 60,708,812 (GRCm38) S509R probably damaging Het
Lmod1 A T 1: 135,363,964 (GRCm38) K186* probably null Het
Lrpprc C T 17: 84,726,649 (GRCm38) A973T probably damaging Het
Marco T C 1: 120,494,785 (GRCm38) H49R possibly damaging Het
Mylk4 T C 13: 32,722,018 (GRCm38) N394S probably null Het
Myo5a T C 9: 75,151,897 (GRCm38) V469A probably damaging Het
Myo5a A G 9: 75,123,040 (GRCm38) Y147C probably damaging Het
Myot A G 18: 44,337,216 (GRCm38) T87A probably benign Het
Nav2 A G 7: 49,597,564 (GRCm38) H2154R probably damaging Het
Nek10 A G 14: 14,999,112 (GRCm38) E1037G possibly damaging Het
Olfr181 A G 16: 58,925,923 (GRCm38) V216A probably benign Het
Olfr341 T C 2: 36,479,974 (GRCm38) D52G probably damaging Het
Olfr677 A G 7: 105,056,671 (GRCm38) T142A probably benign Het
Pitrm1 G T 13: 6,575,092 (GRCm38) V869F probably benign Het
Prdx1 T G 4: 116,693,800 (GRCm38) I156S probably benign Het
Rbks T A 5: 31,665,752 (GRCm38) T107S probably damaging Het
Ryr3 G A 2: 112,675,874 (GRCm38) R3468W probably damaging Het
Scn1a C T 2: 66,273,469 (GRCm38) D1805N probably damaging Het
Sirpa T C 2: 129,615,648 (GRCm38) V214A probably benign Het
Slc35c1 T C 2: 92,458,880 (GRCm38) N94D probably benign Het
Sorbs2 A T 8: 45,795,370 (GRCm38) K553* probably null Het
Tectb C G 19: 55,180,999 (GRCm38) probably benign Het
Thg1l A G 11: 45,951,565 (GRCm38) V142A probably benign Het
Tiparp T A 3: 65,553,130 (GRCm38) Y513* probably null Het
Tmc6 A G 11: 117,772,820 (GRCm38) V522A probably benign Het
Trim39 T A 17: 36,269,164 (GRCm38) probably benign Het
Trrap G A 5: 144,843,369 (GRCm38) probably null Het
Vmn1r38 T A 6: 66,776,971 (GRCm38) I54F probably benign Het
Vmn2r23 T A 6: 123,742,188 (GRCm38) Y833* probably null Het
Zfp810 A T 9: 22,279,238 (GRCm38) S125T probably benign Het
Other mutations in Tulp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Tulp3 APN 6 128,325,884 (GRCm38) missense probably damaging 0.99
IGL01327:Tulp3 APN 6 128,327,634 (GRCm38) missense probably damaging 1.00
IGL01382:Tulp3 APN 6 128,325,070 (GRCm38) missense probably damaging 1.00
IGL01633:Tulp3 APN 6 128,325,960 (GRCm38) missense probably damaging 1.00
IGL02228:Tulp3 APN 6 128,334,485 (GRCm38) missense probably damaging 1.00
IGL02372:Tulp3 APN 6 128,327,598 (GRCm38) missense possibly damaging 0.92
D4043:Tulp3 UTSW 6 128,324,150 (GRCm38) missense probably benign 0.06
R0243:Tulp3 UTSW 6 128,325,958 (GRCm38) nonsense probably null
R1181:Tulp3 UTSW 6 128,325,952 (GRCm38) missense possibly damaging 0.47
R1673:Tulp3 UTSW 6 128,333,943 (GRCm38) splice site probably null
R1749:Tulp3 UTSW 6 128,337,759 (GRCm38) missense probably damaging 1.00
R1984:Tulp3 UTSW 6 128,326,806 (GRCm38) missense probably benign 0.02
R1985:Tulp3 UTSW 6 128,326,806 (GRCm38) missense probably benign 0.02
R4660:Tulp3 UTSW 6 128,323,054 (GRCm38) utr 3 prime probably benign
R4779:Tulp3 UTSW 6 128,323,120 (GRCm38) missense probably damaging 1.00
R5001:Tulp3 UTSW 6 128,325,068 (GRCm38) missense probably damaging 1.00
R6192:Tulp3 UTSW 6 128,355,740 (GRCm38) splice site probably null
R6242:Tulp3 UTSW 6 128,323,087 (GRCm38) missense probably damaging 1.00
R7464:Tulp3 UTSW 6 128,326,829 (GRCm38) missense probably benign 0.00
R7782:Tulp3 UTSW 6 128,324,980 (GRCm38) missense possibly damaging 0.69
R7883:Tulp3 UTSW 6 128,326,844 (GRCm38) missense probably damaging 1.00
R8027:Tulp3 UTSW 6 128,334,473 (GRCm38) missense probably benign 0.00
R8235:Tulp3 UTSW 6 128,327,677 (GRCm38) missense probably benign 0.00
R8919:Tulp3 UTSW 6 128,334,003 (GRCm38) missense probably benign 0.12
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-12-04