Incidental Mutation 'R8775-TAIL:Tulp2'
ID 668028
Institutional Source Beutler Lab
Gene Symbol Tulp2
Ensembl Gene ENSMUSG00000023467
Gene Name tubby-like protein 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8775-TAIL
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45131450-45173070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45164914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 65 (T65A)
Ref Sequence ENSEMBL: ENSMUSP00000024233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024233] [ENSMUST00000085331] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000107762] [ENSMUST00000209763] [ENSMUST00000210299] [ENSMUST00000210532] [ENSMUST00000210813] [ENSMUST00000210868]
AlphaFold P46686
Predicted Effect probably benign
Transcript: ENSMUST00000024233
AA Change: T65A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: T65A

DomainStartEndE-ValueType
low complexity region 67 77 N/A INTRINSIC
low complexity region 212 220 N/A INTRINSIC
Pfam:Tub 315 556 1.1e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085331
SMART Domains Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 88 96 N/A INTRINSIC
Pfam:Tub 191 432 6.2e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107758
SMART Domains Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 100 108 N/A INTRINSIC
Pfam:Tub 203 451 4.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107759
SMART Domains Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 100 108 N/A INTRINSIC
Pfam:Tub 203 444 3.4e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107762
AA Change: T65A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: T65A

DomainStartEndE-ValueType
Pfam:Tub_N 39 295 8.8e-36 PFAM
Pfam:Tub 315 556 1.3e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209763
Predicted Effect probably benign
Transcript: ENSMUST00000210299
AA Change: T9A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210532
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect probably benign
Transcript: ENSMUST00000210868
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T C 6: 39,552,142 (GRCm39) probably null Het
Alpk3 A C 7: 80,727,598 (GRCm39) M243L probably benign Het
Anapc1 A T 2: 128,499,093 (GRCm39) Y860N possibly damaging Het
Asprv1 T C 6: 86,605,321 (GRCm39) S56P probably damaging Het
Blm TCC TCCACC 7: 80,162,679 (GRCm39) probably benign Het
D130043K22Rik G T 13: 25,040,982 (GRCm39) E135* probably null Het
Dnmt3b A G 2: 153,511,711 (GRCm39) H293R possibly damaging Het
Dsg1a C T 18: 20,473,564 (GRCm39) S879L probably damaging Het
Fbxo24 C T 5: 137,611,213 (GRCm39) A526T possibly damaging Het
Fign A T 2: 63,810,891 (GRCm39) D126E probably benign Het
Gpr137 A G 19: 6,915,800 (GRCm39) F377L probably damaging Het
Gsdma2 A G 11: 98,540,009 (GRCm39) K44E probably damaging Het
Iigp1 A C 18: 60,523,596 (GRCm39) Y238S probably damaging Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Kcnip2 T C 19: 45,782,149 (GRCm39) N258S possibly damaging Het
Lcat A G 8: 106,669,023 (GRCm39) I84T possibly damaging Het
Mansc1 C T 6: 134,587,631 (GRCm39) R182H probably benign Het
Myh4 T C 11: 67,148,006 (GRCm39) M1685T probably benign Het
Myo10 T A 15: 25,800,145 (GRCm39) V1407E probably damaging Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Nckap1 A G 2: 80,375,410 (GRCm39) S297P probably benign Het
Nefm T C 14: 68,362,108 (GRCm39) Y52C probably damaging Het
Ntng2 A T 2: 29,117,976 (GRCm39) N157K possibly damaging Het
Oscp1 T C 4: 125,970,619 (GRCm39) V136A probably benign Het
Oser1 G A 2: 163,249,004 (GRCm39) T66I probably benign Het
Palld A G 8: 62,138,006 (GRCm39) L583P possibly damaging Het
Pex7 A G 10: 19,760,522 (GRCm39) probably null Het
Ppp2r3d A G 9: 101,004,204 (GRCm39) Y378H probably benign Het
Prss33 T A 17: 24,052,885 (GRCm39) N263I possibly damaging Het
Psg25 A C 7: 18,255,153 (GRCm39) C454W probably damaging Het
Ptpn21 T C 12: 98,649,001 (GRCm39) probably null Het
Sh3bp2 A T 5: 34,719,751 (GRCm39) S587C probably damaging Het
Sos2 A G 12: 69,664,006 (GRCm39) F493L probably benign Het
St8sia4 T A 1: 95,519,472 (GRCm39) T339S possibly damaging Het
Taok1 T C 11: 77,470,632 (GRCm39) K58E probably benign Het
Thsd1 A G 8: 22,749,643 (GRCm39) D838G possibly damaging Het
Usp54 A T 14: 20,638,466 (GRCm39) S205T probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r37 A T 7: 9,218,991 (GRCm39) Y464* probably null Het
Wdsub1 A G 2: 59,693,014 (GRCm39) M300T probably damaging Het
Xrcc5 C T 1: 72,433,089 (GRCm39) T716I probably benign Het
Zfp619 G T 7: 39,184,639 (GRCm39) C223F possibly damaging Het
Other mutations in Tulp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Tulp2 APN 7 45,171,332 (GRCm39) missense probably damaging 1.00
IGL00942:Tulp2 APN 7 45,165,692 (GRCm39) missense possibly damaging 0.87
IGL01881:Tulp2 APN 7 45,170,219 (GRCm39) missense probably damaging 1.00
IGL03240:Tulp2 APN 7 45,171,734 (GRCm39) missense probably damaging 1.00
IGL03242:Tulp2 APN 7 45,171,282 (GRCm39) missense probably damaging 0.99
IGL03353:Tulp2 APN 7 45,165,696 (GRCm39) missense probably damaging 1.00
R0063:Tulp2 UTSW 7 45,170,284 (GRCm39) unclassified probably benign
R0063:Tulp2 UTSW 7 45,170,284 (GRCm39) unclassified probably benign
R0306:Tulp2 UTSW 7 45,168,000 (GRCm39) unclassified probably benign
R0648:Tulp2 UTSW 7 45,169,210 (GRCm39) missense probably damaging 1.00
R0710:Tulp2 UTSW 7 45,170,232 (GRCm39) missense possibly damaging 0.92
R1168:Tulp2 UTSW 7 45,167,266 (GRCm39) missense probably benign
R1345:Tulp2 UTSW 7 45,168,145 (GRCm39) missense probably benign 0.13
R1737:Tulp2 UTSW 7 45,169,201 (GRCm39) missense probably damaging 1.00
R1854:Tulp2 UTSW 7 45,167,367 (GRCm39) missense probably damaging 0.98
R1918:Tulp2 UTSW 7 45,167,365 (GRCm39) missense possibly damaging 0.95
R2356:Tulp2 UTSW 7 45,168,052 (GRCm39) missense possibly damaging 0.85
R3012:Tulp2 UTSW 7 45,168,187 (GRCm39) missense probably damaging 1.00
R3419:Tulp2 UTSW 7 45,168,176 (GRCm39) missense possibly damaging 0.56
R4236:Tulp2 UTSW 7 45,171,298 (GRCm39) missense probably damaging 1.00
R4701:Tulp2 UTSW 7 45,167,348 (GRCm39) missense probably damaging 0.98
R5367:Tulp2 UTSW 7 45,166,075 (GRCm39) missense possibly damaging 0.95
R6056:Tulp2 UTSW 7 45,139,797 (GRCm39) splice site probably null
R6294:Tulp2 UTSW 7 45,164,116 (GRCm39) missense probably damaging 1.00
R6432:Tulp2 UTSW 7 45,168,012 (GRCm39) missense probably benign 0.01
R6875:Tulp2 UTSW 7 45,168,038 (GRCm39) missense probably benign 0.05
R7459:Tulp2 UTSW 7 45,169,227 (GRCm39) missense probably damaging 1.00
R7556:Tulp2 UTSW 7 45,168,005 (GRCm39) splice site probably null
R7676:Tulp2 UTSW 7 45,170,451 (GRCm39) missense possibly damaging 0.86
R7883:Tulp2 UTSW 7 45,166,188 (GRCm39) splice site probably null
R8775:Tulp2 UTSW 7 45,164,914 (GRCm39) missense probably benign
R8804:Tulp2 UTSW 7 45,170,398 (GRCm39) missense probably damaging 1.00
Z1088:Tulp2 UTSW 7 45,171,410 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2021-03-08