Incidental Mutation 'R1537:Tpst2'
ID 169589
Institutional Source Beutler Lab
Gene Symbol Tpst2
Ensembl Gene ENSMUSG00000029344
Gene Name protein-tyrosine sulfotransferase 2
Synonyms D5Ucla3, grt, grm, Tango13b
MMRRC Submission 039576-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R1537 (G1)
Quality Score 177
Status Not validated
Chromosome 5
Chromosomal Location 112424557-112463227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112456286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 275 (D275G)
Ref Sequence ENSEMBL: ENSMUSP00000071399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031287] [ENSMUST00000071455] [ENSMUST00000151947]
AlphaFold O88856
Predicted Effect possibly damaging
Transcript: ENSMUST00000031287
AA Change: D275G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031287
Gene: ENSMUSG00000029344
AA Change: D275G

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 possibly damaging
Transcript: ENSMUST00000071455
AA Change: D275G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071399
Gene: ENSMUSG00000029344
AA Change: D275G

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 unknown
Transcript: ENSMUST00000140262
AA Change: D43G
SMART Domains Protein: ENSMUSP00000116816
Gene: ENSMUSG00000029344
AA Change: D43G

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
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,124 (GRCm39) H86L possibly damaging Het
4930519G04Rik A G 5: 115,008,278 (GRCm39) T31A probably benign Het
Ahcyl1 A G 3: 107,603,505 (GRCm39) F30S probably benign Het
Alox5ap G A 5: 149,201,993 (GRCm39) probably null Het
Amtn A G 5: 88,526,729 (GRCm39) S53G probably null Het
Arap3 A T 18: 38,122,737 (GRCm39) probably null Het
Ash1l T A 3: 88,979,783 (GRCm39) V2769E probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bhlha9 C T 11: 76,563,457 (GRCm39) S28L probably benign Het
Bltp2 T A 11: 78,180,169 (GRCm39) Y2150N probably damaging Het
Bmpr2 A G 1: 59,907,285 (GRCm39) T793A probably benign Het
Ccdc80 G A 16: 44,916,299 (GRCm39) A352T probably benign Het
Chst2 A T 9: 95,288,194 (GRCm39) F51I probably benign Het
Col14a1 A G 15: 55,244,163 (GRCm39) N412S unknown Het
Dclk2 T C 3: 86,713,491 (GRCm39) I451V probably damaging Het
Ddb2 A G 2: 91,065,234 (GRCm39) S64P probably benign Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dnai3 T C 3: 145,748,504 (GRCm39) E870G probably damaging Het
Dusp4 G T 8: 35,285,570 (GRCm39) R277L probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Garem1 A T 18: 21,301,931 (GRCm39) probably null Het
Gnpat A G 8: 125,597,555 (GRCm39) E39G probably damaging Het
Golgb1 A T 16: 36,719,150 (GRCm39) Q352L possibly damaging Het
Hdlbp T C 1: 93,345,096 (GRCm39) D803G probably benign Het
Hps1 A G 19: 42,748,143 (GRCm39) probably null Het
Ilvbl G A 10: 78,415,565 (GRCm39) R327H probably benign Het
Itpr3 A G 17: 27,333,121 (GRCm39) D1911G possibly damaging Het
Lmo7 T A 14: 102,166,700 (GRCm39) probably benign Het
Mcm10 G A 2: 5,003,591 (GRCm39) T542I possibly damaging Het
Med1 A G 11: 98,051,772 (GRCm39) V497A probably damaging Het
Mn1 G A 5: 111,602,646 (GRCm39) A1295T probably damaging Het
Myh7b A C 2: 155,473,707 (GRCm39) D1580A probably damaging Het
Naa20 A G 2: 145,754,438 (GRCm39) I101V probably benign Het
Nav3 T C 10: 109,702,846 (GRCm39) Y229C probably damaging Het
Obscn T C 11: 58,891,575 (GRCm39) R6986G unknown Het
Or51h7 G A 7: 102,591,547 (GRCm39) T79I probably damaging Het
Or8b4 A G 9: 37,830,570 (GRCm39) I211V probably benign Het
P2rx3 A G 2: 84,853,825 (GRCm39) probably null Het
Pcdhac2 G A 18: 37,279,539 (GRCm39) G840R possibly damaging Het
Pclo A G 5: 14,762,489 (GRCm39) N3654S unknown Het
Pcnx2 T A 8: 126,604,188 (GRCm39) E689D possibly damaging Het
Pds5a A G 5: 65,804,464 (GRCm39) S532P probably benign Het
Phf1 G A 17: 27,154,372 (GRCm39) probably null Het
Pkp4 G A 2: 59,045,147 (GRCm39) V41M probably damaging Het
Prlr T G 15: 10,328,364 (GRCm39) probably null Het
Prr12 G T 7: 44,678,366 (GRCm39) A1954D unknown Het
Prtg A G 9: 72,717,039 (GRCm39) T127A probably benign Het
Ptprh A G 7: 4,552,698 (GRCm39) L884P probably damaging Het
Rnf170 T A 8: 26,629,076 (GRCm39) D183E probably benign Het
Rrp12 A T 19: 41,875,242 (GRCm39) H339Q probably damaging Het
Rubcnl T G 14: 75,278,267 (GRCm39) S350R possibly damaging Het
Sgo2b T A 8: 64,379,536 (GRCm39) T1099S possibly damaging Het
Ska2 T C 11: 87,006,945 (GRCm39) S17P probably damaging Het
Slc38a2 A G 15: 96,591,034 (GRCm39) I243T possibly damaging Het
Sptan1 T A 2: 29,916,034 (GRCm39) D2007E possibly damaging Het
Taar5 T A 10: 23,846,620 (GRCm39) L6H probably benign Het
Tbata G T 10: 61,019,270 (GRCm39) probably null Het
Tent2 C T 13: 93,312,076 (GRCm39) G208D probably damaging Het
Tmem107 T C 11: 68,963,284 (GRCm39) S98P probably damaging Het
Ttc28 G T 5: 111,433,184 (GRCm39) G2073W probably damaging Het
Ttc7 T C 17: 87,629,891 (GRCm39) V291A possibly damaging Het
Vps13b T A 15: 35,792,327 (GRCm39) N2198K possibly damaging Het
Wdr37 A T 13: 8,887,039 (GRCm39) D249E probably benign Het
Xirp2 G T 2: 67,340,357 (GRCm39) C866F probably damaging Het
Zfp990 A G 4: 145,263,566 (GRCm39) E188G possibly damaging Het
Zkscan2 A G 7: 123,099,064 (GRCm39) S43P possibly damaging Het
Zscan5b A G 7: 6,236,850 (GRCm39) R200G probably benign Het
Other mutations in Tpst2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Tpst2 APN 5 112,457,724 (GRCm39) missense probably damaging 1.00
IGL03268:Tpst2 APN 5 112,456,091 (GRCm39) missense probably damaging 1.00
blooming UTSW 5 112,455,623 (GRCm39) missense probably benign
feldspar UTSW 5 112,456,171 (GRCm39) nonsense probably null
gypsum UTSW 5 112,455,911 (GRCm39) missense probably damaging 1.00
hot_springs UTSW 5 112,455,544 (GRCm39) missense probably benign 0.05
R1175:Tpst2 UTSW 5 112,455,911 (GRCm39) missense probably damaging 1.00
R1423:Tpst2 UTSW 5 112,455,488 (GRCm39) missense probably benign 0.22
R2013:Tpst2 UTSW 5 112,455,880 (GRCm39) missense probably damaging 1.00
R4624:Tpst2 UTSW 5 112,456,162 (GRCm39) missense probably damaging 1.00
R4873:Tpst2 UTSW 5 112,457,687 (GRCm39) nonsense probably null
R4875:Tpst2 UTSW 5 112,457,687 (GRCm39) nonsense probably null
R5272:Tpst2 UTSW 5 112,455,818 (GRCm39) missense probably damaging 1.00
R6123:Tpst2 UTSW 5 112,456,084 (GRCm39) missense probably damaging 1.00
R6487:Tpst2 UTSW 5 112,455,989 (GRCm39) missense probably damaging 1.00
R6605:Tpst2 UTSW 5 112,424,600 (GRCm39) start gained probably benign
R6688:Tpst2 UTSW 5 112,455,623 (GRCm39) missense probably benign
R7240:Tpst2 UTSW 5 112,455,544 (GRCm39) missense probably benign 0.05
R7625:Tpst2 UTSW 5 112,455,887 (GRCm39) missense probably damaging 1.00
R7777:Tpst2 UTSW 5 112,457,560 (GRCm39) missense possibly damaging 0.53
R7797:Tpst2 UTSW 5 112,455,782 (GRCm39) missense probably damaging 1.00
R8306:Tpst2 UTSW 5 112,455,803 (GRCm39) missense probably damaging 1.00
R8486:Tpst2 UTSW 5 112,456,171 (GRCm39) nonsense probably null
R8875:Tpst2 UTSW 5 112,457,714 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCCTCACCAAGTGGAACAAGG -3'
(R):5'- CTGTCTGCAACACACGATTTCAGC -3'

Sequencing Primer
(F):5'- CCAAGTGGAACAAGGCCATC -3'
(R):5'- ttcccaactctttccccatc -3'
Posted On 2014-04-13