Incidental Mutation 'IGL03268:Tpst2'
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ID415170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpst2
Ensembl Gene ENSMUSG00000029344
Gene Nameprotein-tyrosine sulfotransferase 2
SynonymsD5Ucla3, grm, Tango13b, grt
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.622) question?
Stock #IGL03268
Quality Score
Status
Chromosome5
Chromosomal Location112276691-112315361 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 112308225 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 210 (V210A)
Ref Sequence ENSEMBL: ENSMUSP00000071399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031287] [ENSMUST00000071455] [ENSMUST00000151947]
Predicted Effect probably damaging
Transcript: ENSMUST00000031287
AA Change: V210A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031287
Gene: ENSMUSG00000029344
AA Change: V210A

DomainStartEndE-ValueType
low complexity region 22 43 N/A INTRINSIC
Pfam:Sulfotransfer_3 82 272 8.8e-19 PFAM
Pfam:Sulfotransfer_1 82 284 2.8e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071455
AA Change: V210A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071399
Gene: ENSMUSG00000029344
AA Change: V210A

DomainStartEndE-ValueType
low complexity region 22 43 N/A INTRINSIC
Pfam:Sulfotransfer_3 82 276 8.4e-16 PFAM
Pfam:Sulfotransfer_1 82 284 2.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139482
Predicted Effect probably benign
Transcript: ENSMUST00000140262
SMART Domains Protein: ENSMUSP00000116816
Gene: ENSMUSG00000029344

DomainStartEndE-ValueType
PDB:3AP2|B 2 63 4e-36 PDB
SCOP:d1fmja_ 3 55 9e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151947
Predicted Effect probably benign
Transcript: ENSMUST00000198502
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Spontaneous mutants show a delayed rise and a prolonged deficit of pituitary growth hormone resulting in delayed pubertal growth, hypothyroidism, and an enlarged adenohypophysis with aberrant chromophobic cells. Homozygous null mice show a modest but transient pubertal growth lag and male sterility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Tpst2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Tpst2 APN 5 112309858 missense probably damaging 1.00
blooming UTSW 5 112307757 missense probably benign
feldspar UTSW 5 112308305 nonsense probably null
gypsum UTSW 5 112308045 missense probably damaging 1.00
hot_springs UTSW 5 112307678 missense probably benign 0.05
R1175:Tpst2 UTSW 5 112308045 missense probably damaging 1.00
R1423:Tpst2 UTSW 5 112307622 missense probably benign 0.22
R1537:Tpst2 UTSW 5 112308420 missense possibly damaging 0.48
R2013:Tpst2 UTSW 5 112308014 missense probably damaging 1.00
R4624:Tpst2 UTSW 5 112308296 missense probably damaging 1.00
R4873:Tpst2 UTSW 5 112309821 nonsense probably null
R4875:Tpst2 UTSW 5 112309821 nonsense probably null
R5272:Tpst2 UTSW 5 112307952 missense probably damaging 1.00
R6123:Tpst2 UTSW 5 112308218 missense probably damaging 1.00
R6487:Tpst2 UTSW 5 112308123 missense probably damaging 1.00
R6605:Tpst2 UTSW 5 112276734 start gained probably benign
R6688:Tpst2 UTSW 5 112307757 missense probably benign
R7240:Tpst2 UTSW 5 112307678 missense probably benign 0.05
R7625:Tpst2 UTSW 5 112308021 missense probably damaging 1.00
R7777:Tpst2 UTSW 5 112309694 missense possibly damaging 0.53
R7797:Tpst2 UTSW 5 112307916 missense probably damaging 1.00
R8306:Tpst2 UTSW 5 112307937 missense probably damaging 1.00
R8486:Tpst2 UTSW 5 112308305 nonsense probably null
R8875:Tpst2 UTSW 5 112309848 nonsense probably null
Posted On2016-08-02