Incidental Mutation 'R1181:Tulp3'
ID 101566
Institutional Source Beutler Lab
Gene Symbol Tulp3
Ensembl Gene ENSMUSG00000001521
Gene Name tubby-like protein 3
Synonyms 2310022L06Rik
MMRRC Submission 039253-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1181 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128298124-128332814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128302915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 301 (H301Q)
Ref Sequence ENSEMBL: ENSMUSP00000001562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001562]
AlphaFold O88413
Predicted Effect possibly damaging
Transcript: ENSMUST00000001562
AA Change: H301Q

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: H301Q

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.9%
  • 10x: 93.9%
  • 20x: 84.2%
Validation Efficiency 100% (52/52)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T A 19: 4,922,638 (GRCm39) Q64L probably benign Het
Ankrd12 T C 17: 66,349,569 (GRCm39) N88S probably benign Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Bnipl C A 3: 95,152,960 (GRCm39) probably null Het
Bod1 T C 11: 31,616,943 (GRCm39) probably benign Het
Cbarp G T 10: 79,971,328 (GRCm39) H166N probably damaging Het
Cdr2l T A 11: 115,285,005 (GRCm39) I447N probably damaging Het
Cped1 T G 6: 22,215,561 (GRCm39) I698M probably damaging Het
Ecm1 G A 3: 95,642,662 (GRCm39) H404Y possibly damaging Het
Ehbp1 C T 11: 22,012,831 (GRCm39) V902I probably benign Het
Eps8 T C 6: 137,499,852 (GRCm39) Q209R possibly damaging Het
Fastk C T 5: 24,646,729 (GRCm39) probably null Het
Gm6797 T A X: 8,508,004 (GRCm39) noncoding transcript Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hgf G C 5: 16,823,923 (GRCm39) G707R probably damaging Het
Klhl5 T C 5: 65,320,228 (GRCm39) M594T probably damaging Het
Kyat3 A C 3: 142,443,531 (GRCm39) probably null Het
Mettl14 C T 3: 123,167,651 (GRCm39) G236S probably damaging Het
Nob1 G A 8: 108,148,122 (GRCm39) P107S probably damaging Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Or2a56 T A 6: 42,932,492 (GRCm39) L20Q probably benign Het
Or52e7 T A 7: 104,685,021 (GRCm39) N205K probably damaging Het
Or52n4b C A 7: 108,144,509 (GRCm39) T257N probably benign Het
Or5b109 C A 19: 13,212,195 (GRCm39) H194N probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Or6c65 A G 10: 129,604,033 (GRCm39) I223V probably benign Het
Pald1 A G 10: 61,183,366 (GRCm39) probably benign Het
Pds5a A T 5: 65,784,545 (GRCm39) probably null Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plekha2 A C 8: 25,549,218 (GRCm39) S189A probably benign Het
Prune2 T C 19: 17,100,469 (GRCm39) V1991A probably benign Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Serinc3 T C 2: 163,467,446 (GRCm39) K445R probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Slfn8 T C 11: 82,907,571 (GRCm39) E324G probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Tas2r121 A T 6: 132,677,132 (GRCm39) I280N probably damaging Het
Tbc1d7 T C 13: 43,306,615 (GRCm39) I242M probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tnni3k A T 3: 154,581,150 (GRCm39) H600Q probably damaging Het
Trim66 C T 7: 109,083,784 (GRCm39) probably null Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ubqln5 T A 7: 103,777,948 (GRCm39) Q292L probably damaging Het
Zfp454 T C 11: 50,764,413 (GRCm39) K229E probably damaging 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
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
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 2014-01-15