Incidental Mutation 'R1984:Tulp3'
ID 220322
Institutional Source Beutler Lab
Gene Symbol Tulp3
Ensembl Gene ENSMUSG00000001521
Gene Name tubby-like protein 3
Synonyms 2310022L06Rik
MMRRC Submission 039996-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1984 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 128298124-128332814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128303769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 277 (S277T)
Ref Sequence ENSEMBL: ENSMUSP00000001562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001562]
AlphaFold O88413
Predicted Effect probably benign
Transcript: ENSMUST00000001562
AA Change: S277T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: S277T

DomainStartEndE-ValueType
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: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,324,778 (GRCm39) L81H probably damaging Het
Abca8b A G 11: 109,868,667 (GRCm39) C166R probably damaging Het
Adgrv1 T A 13: 81,671,868 (GRCm39) E2242D probably damaging Het
Agap1 T C 1: 89,694,045 (GRCm39) S448P probably benign Het
Aldh1a2 T C 9: 71,160,334 (GRCm39) L120P probably damaging Het
Alkbh2 T C 5: 114,262,115 (GRCm39) N205S probably benign Het
Anapc1 C A 2: 128,511,608 (GRCm39) G493C possibly damaging Het
Aox3 A T 1: 58,192,220 (GRCm39) I497F possibly damaging Het
Atp2b1 T C 10: 98,850,354 (GRCm39) S826P possibly damaging Het
Atp8b4 T A 2: 126,164,928 (GRCm39) R1129S probably damaging Het
Bche T A 3: 73,609,159 (GRCm39) Q89L probably benign Het
Bche G T 3: 73,609,160 (GRCm39) Q89K probably benign Het
Bcl9 T C 3: 97,121,050 (GRCm39) K171E probably damaging Het
Cacna1b A T 2: 24,538,998 (GRCm39) Y1488N probably damaging Het
Dock8 A G 19: 25,098,545 (GRCm39) N623S probably null Het
Dok6 T C 18: 89,578,234 (GRCm39) E61G probably damaging Het
Duxf4 T A 10: 58,071,785 (GRCm39) Q143L possibly damaging Het
Esf1 A T 2: 139,990,806 (GRCm39) D559E possibly damaging Het
F11r A G 1: 171,289,438 (GRCm39) I254V probably benign Het
Fkrp A G 7: 16,545,802 (GRCm39) V20A probably benign Het
Fscb T C 12: 64,521,457 (GRCm39) E3G unknown Het
Hdlbp A G 1: 93,358,840 (GRCm39) I237T probably damaging Het
Hfm1 A T 5: 107,046,442 (GRCm39) D481E probably damaging Het
Hspa4l T C 3: 40,714,833 (GRCm39) V156A probably damaging Het
Igfn1 A G 1: 135,889,782 (GRCm39) S2422P probably benign Het
Il23r T A 6: 67,467,652 (GRCm39) probably null Het
Il24 G A 1: 130,810,268 (GRCm39) T196I probably benign Het
Isg15 T C 4: 156,284,250 (GRCm39) I93V probably benign Het
Kcna6 T C 6: 126,715,473 (GRCm39) E472G probably benign Het
Kif21b G A 1: 136,075,284 (GRCm39) D166N probably damaging Het
Lilrb4b A T 10: 51,357,831 (GRCm39) Q80L possibly damaging Het
Lrrc69 T C 4: 14,708,669 (GRCm39) E225G possibly damaging Het
Marchf6 A T 15: 31,469,792 (GRCm39) L726Q probably damaging Het
Megf6 G T 4: 154,352,124 (GRCm39) G1210C probably damaging Het
Msh2 C T 17: 88,026,724 (GRCm39) T740I probably damaging Het
Myh14 T C 7: 44,288,446 (GRCm39) Y514C probably damaging Het
Myorg C A 4: 41,497,501 (GRCm39) A710S possibly damaging Het
Nedd1 T C 10: 92,550,022 (GRCm39) T88A possibly damaging Het
Nfkb1 G A 3: 135,321,110 (GRCm39) T215I possibly damaging Het
Obox1 A T 7: 15,289,135 (GRCm39) I17L probably benign Het
Or11g24 A T 14: 50,662,848 (GRCm39) I291L possibly damaging Het
Palb2 A C 7: 121,726,303 (GRCm39) H522Q probably damaging Het
Pde4c C T 8: 71,177,191 (GRCm39) T6M probably damaging Het
Plekhg1 A G 10: 3,908,181 (GRCm39) K97E probably damaging Het
Plod3 A G 5: 137,019,707 (GRCm39) probably null Het
Plppr3 A T 10: 79,703,294 (GRCm39) Y63* probably null Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Qrich1 T C 9: 108,411,246 (GRCm39) V257A probably damaging Het
Rpl14 A G 9: 120,401,253 (GRCm39) D32G possibly damaging Het
Senp8 A G 9: 59,644,721 (GRCm39) V132A possibly damaging Het
Serac1 A G 17: 6,095,964 (GRCm39) probably null Het
Sh2d3c T A 2: 32,639,256 (GRCm39) C295* probably null Het
Stab1 A G 14: 30,872,605 (GRCm39) F1142L probably benign Het
Stam2 T C 2: 52,599,638 (GRCm39) T257A possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tg A G 15: 66,554,691 (GRCm39) E702G probably benign Het
Tgif2lx2 A T X: 117,337,690 (GRCm39) K218* probably null Het
Tpp1 C A 7: 105,400,905 (GRCm39) V41L probably benign Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp683 T C 4: 133,784,766 (GRCm39) F338L 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
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
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
(F):5'- GTAGAAGCTGACCAGACTGC -3'
(R):5'- CATGTGGAGAAGTGTTTCCCTG -3'

Sequencing Primer
(F):5'- TGACCAGACTGCAGGGTG -3'
(R):5'- AGACAGGATCTCTTTACGTAGGCC -3'
Posted On 2014-08-25