Incidental Mutation 'IGL03353:Tulp2'
ID419813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tulp2
Ensembl Gene ENSMUSG00000023467
Gene Nametubby-like protein 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL03353
Quality Score
Status
Chromosome7
Chromosomal Location45481877-45523632 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 45516272 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 98 (P98Q)
Ref Sequence ENSEMBL: ENSMUSP00000103391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024233] [ENSMUST00000085331] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000107762] [ENSMUST00000209763] [ENSMUST00000210299] [ENSMUST00000210532] [ENSMUST00000210813] [ENSMUST00000210868]
Predicted Effect probably damaging
Transcript: ENSMUST00000024233
AA Change: P98Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: P98Q

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 damaging
Transcript: ENSMUST00000107762
AA Change: P98Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: P98Q

DomainStartEndE-ValueType
Pfam:Tub_N 39 295 8.8e-36 PFAM
Pfam:Tub 315 556 1.3e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209472
Predicted Effect probably benign
Transcript: ENSMUST00000209763
Predicted Effect probably damaging
Transcript: ENSMUST00000210299
AA Change: P42Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000210532
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect probably benign
Transcript: ENSMUST00000210868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211413
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,175,893 I176V probably damaging Het
Aldh1l2 T C 10: 83,522,913 T73A probably benign Het
Btaf1 G T 19: 36,992,500 L1191F probably damaging Het
Caskin1 G A 17: 24,499,357 probably benign Het
Clcn3 T C 8: 60,922,988 T624A probably benign Het
Dicer1 A G 12: 104,713,107 V537A probably damaging Het
Dock4 A G 12: 40,817,758 probably null Het
Dsp A T 13: 38,186,695 Y858F probably damaging Het
Eya1 A G 1: 14,179,527 Y550H probably damaging Het
Frmpd1 A G 4: 45,261,926 K204E probably damaging Het
Frrs1l G A 4: 56,968,121 T217M probably damaging Het
Fsip2 G A 2: 82,977,393 S1352N possibly damaging Het
Hfm1 T C 5: 106,856,929 D1177G probably damaging Het
Itih4 G A 14: 30,887,844 V44I probably damaging Het
Kif2c A G 4: 117,166,336 M393T probably benign Het
Klhdc10 T A 6: 30,447,992 probably benign Het
Lrch1 G T 14: 74,858,042 H119Q probably damaging Het
Ncam2 A T 16: 81,434,900 N84I probably benign Het
Nlrx1 A G 9: 44,256,593 V669A probably benign Het
Pdcl3 A G 1: 38,995,836 N158S probably benign Het
Polk C T 13: 96,489,211 A362T probably damaging Het
Rnf40 T A 7: 127,592,891 L403* probably null Het
Skint5 T C 4: 113,742,182 D720G unknown Het
Snx6 A G 12: 54,765,684 probably benign Het
St6galnac2 A T 11: 116,690,302 probably benign Het
Stk26 A T X: 50,870,398 D62V probably damaging Het
Tgds G A 14: 118,127,507 Q101* probably null Het
Tmem135 C A 7: 89,141,953 R421L probably damaging Het
Tspyl4 T A 10: 34,298,139 V209E probably damaging Het
Txk C T 5: 72,736,402 V12I probably benign Het
Usp30 A G 5: 114,121,058 T398A probably benign Het
Vmn1r8 A G 6: 57,036,791 T276A probably benign Het
Xdh G A 17: 73,895,786 A1123V possibly damaging Het
Zfp60 T A 7: 27,748,334 Y142* probably null Het
Other mutations in Tulp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Tulp2 APN 7 45521908 missense probably damaging 1.00
IGL00942:Tulp2 APN 7 45516268 missense possibly damaging 0.87
IGL01881:Tulp2 APN 7 45520795 missense probably damaging 1.00
IGL03240:Tulp2 APN 7 45522310 missense probably damaging 1.00
IGL03242:Tulp2 APN 7 45521858 missense probably damaging 0.99
R0063:Tulp2 UTSW 7 45520860 unclassified probably benign
R0063:Tulp2 UTSW 7 45520860 unclassified probably benign
R0306:Tulp2 UTSW 7 45518576 unclassified probably benign
R0648:Tulp2 UTSW 7 45519786 missense probably damaging 1.00
R0710:Tulp2 UTSW 7 45520808 missense possibly damaging 0.92
R1168:Tulp2 UTSW 7 45517842 missense probably benign
R1345:Tulp2 UTSW 7 45518721 missense probably benign 0.13
R1737:Tulp2 UTSW 7 45519777 missense probably damaging 1.00
R1854:Tulp2 UTSW 7 45517943 missense probably damaging 0.98
R1918:Tulp2 UTSW 7 45517941 missense possibly damaging 0.95
R2356:Tulp2 UTSW 7 45518628 missense possibly damaging 0.85
R3012:Tulp2 UTSW 7 45518763 missense probably damaging 1.00
R3419:Tulp2 UTSW 7 45518752 missense possibly damaging 0.56
R4236:Tulp2 UTSW 7 45521874 missense probably damaging 1.00
R4701:Tulp2 UTSW 7 45517924 missense probably damaging 0.98
R5367:Tulp2 UTSW 7 45516651 missense possibly damaging 0.95
R6056:Tulp2 UTSW 7 45490373 splice site probably null
R6294:Tulp2 UTSW 7 45514692 missense probably damaging 1.00
R6432:Tulp2 UTSW 7 45518588 missense probably benign 0.01
R6875:Tulp2 UTSW 7 45518614 missense probably benign 0.05
R7459:Tulp2 UTSW 7 45519803 missense probably damaging 1.00
R7556:Tulp2 UTSW 7 45518581 splice site probably null
R7676:Tulp2 UTSW 7 45521027 missense possibly damaging 0.86
R7883:Tulp2 UTSW 7 45516764 splice site probably null
R8775:Tulp2 UTSW 7 45515490 missense probably benign
R8775-TAIL:Tulp2 UTSW 7 45515490 missense probably benign
R8804:Tulp2 UTSW 7 45520974 missense probably damaging 1.00
Z1088:Tulp2 UTSW 7 45521986 missense probably damaging 1.00
Posted On2016-08-02