Incidental Mutation 'R7775:Gal3st2b'
ID 598807
Institutional Source Beutler Lab
Gene Symbol Gal3st2b
Ensembl Gene ENSMUSG00000093805
Gene Name galactose-3-O-sulfotransferase 2B
Synonyms Gm9994
MMRRC Submission 045831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R7775 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 93846159-93870367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93868506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 246 (D246Y)
Ref Sequence ENSEMBL: ENSMUSP00000136311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177958] [ENSMUST00000178757]
AlphaFold Q6XQH0
Predicted Effect probably damaging
Transcript: ENSMUST00000177958
AA Change: D246Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136311
Gene: ENSMUSG00000093805
AA Change: D246Y

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 1 382 6.5e-151 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178757
AA Change: D244Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136012
Gene: ENSMUSG00000093805
AA Change: D244Y

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 13 380 1.1e-151 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 T C 7: 16,296,573 (GRCm39) K831E probably benign Het
Arpc1a C T 5: 145,041,622 (GRCm39) R302C probably benign Het
Asb5 A C 8: 55,037,827 (GRCm39) H173P Het
Atp6v0a2 A G 5: 124,779,443 (GRCm39) E186G probably damaging Het
Bbs2 A T 8: 94,816,388 (GRCm39) probably null Het
Capn7 A G 14: 31,074,367 (GRCm39) T257A probably benign Het
Car4 T C 11: 84,856,449 (GRCm39) S246P probably damaging Het
Chrm5 A G 2: 112,310,301 (GRCm39) S272P probably benign Het
Chrna6 T C 8: 27,897,392 (GRCm39) I162V probably damaging Het
Chst12 T A 5: 140,509,376 (GRCm39) M1K probably null Het
Cldn6 T A 17: 23,900,581 (GRCm39) C182S probably damaging Het
Coro6 T G 11: 77,356,599 (GRCm39) D102E probably benign Het
Cysltr2 A G 14: 73,267,203 (GRCm39) I169T probably benign Het
Dtx4 G T 19: 12,469,374 (GRCm39) P251Q probably benign Het
Dyrk3 C T 1: 131,057,364 (GRCm39) V270I possibly damaging Het
Efhc1 A T 1: 21,049,685 (GRCm39) Y515F probably damaging Het
Ep300 T C 15: 81,470,887 (GRCm39) S20P unknown Het
Fmnl2 C T 2: 52,963,692 (GRCm39) L275F unknown Het
Fstl4 C T 11: 53,067,798 (GRCm39) Q554* probably null Het
Gkap1 A T 13: 58,398,966 (GRCm39) D188E probably benign Het
Gm14226 T A 2: 154,866,630 (GRCm39) C196S possibly damaging Het
Gm8297 A G 14: 16,167,939 (GRCm39) N193S possibly damaging Het
Grm8 T C 6: 27,363,671 (GRCm39) R615G possibly damaging Het
Ing1 A G 8: 11,611,814 (GRCm39) E178G probably benign Het
Kansl3 A T 1: 36,387,758 (GRCm39) L530H probably damaging Het
Kcna5 A T 6: 126,511,768 (GRCm39) L120* probably null Het
Kif26b T A 1: 178,692,441 (GRCm39) S461T probably benign Het
L3mbtl3 A T 10: 26,228,215 (GRCm39) V15E unknown Het
Lama4 A T 10: 38,954,843 (GRCm39) H1132L probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Ldlrad4 T C 18: 68,368,827 (GRCm39) S95P probably damaging Het
Liph G T 16: 21,777,664 (GRCm39) L379I probably damaging Het
Lrp2 T A 2: 69,331,883 (GRCm39) E1624V possibly damaging Het
Matn2 A T 15: 34,399,223 (GRCm39) H370L possibly damaging Het
Mettl23 T G 11: 116,740,096 (GRCm39) V189G probably benign Het
Mpp4 G A 1: 59,162,672 (GRCm39) T543M not run Het
Mrps15 A T 4: 125,945,170 (GRCm39) N119I probably damaging Het
Or10d4 C A 9: 39,580,534 (GRCm39) F60L possibly damaging Het
Or5ac21 A T 16: 59,123,614 (GRCm39) I33F probably damaging Het
Or7d9 A G 9: 20,193,708 (GRCm39) probably benign Het
Or8b36 T A 9: 37,937,963 (GRCm39) I287N probably damaging Het
Or8g21 T A 9: 38,906,203 (GRCm39) H176L probably damaging Het
Pax8 A G 2: 24,325,913 (GRCm39) S324P possibly damaging Het
Pcdha11 A T 18: 37,145,733 (GRCm39) Y608F possibly damaging Het
Pcdhga5 A G 18: 37,828,578 (GRCm39) D342G probably damaging Het
Pde6d A G 1: 86,471,250 (GRCm39) S143P probably damaging Het
Plau A G 14: 20,892,393 (GRCm39) S393G probably benign Het
Plec A T 15: 76,061,135 (GRCm39) I2934N probably damaging Het
Primpol G T 8: 47,039,459 (GRCm39) P387Q probably damaging Het
Prph2 T C 17: 47,221,732 (GRCm39) L37S possibly damaging Het
Prrt4 A G 6: 29,177,718 (GRCm39) L17P probably damaging Het
Pycr3 T C 15: 75,790,138 (GRCm39) D171G probably damaging Het
Rapgefl1 A G 11: 98,741,980 (GRCm39) N648S probably damaging Het
Rapsn A G 2: 90,875,293 (GRCm39) T359A probably benign Het
Sap25 C T 5: 137,640,186 (GRCm39) R66W probably benign Het
Setd6 A T 8: 96,442,866 (GRCm39) H101L probably benign Het
Slc22a3 G T 17: 12,683,350 (GRCm39) A171E probably damaging Het
Tbc1d2 C T 4: 46,637,746 (GRCm39) probably null Het
Tfap2b G A 1: 19,304,531 (GRCm39) G447D probably damaging Het
Txndc2 A G 17: 65,945,238 (GRCm39) V313A probably benign Het
Uevld A T 7: 46,576,100 (GRCm39) I462N probably damaging Het
Vmn2r120 T C 17: 57,832,942 (GRCm39) Y79C probably damaging Het
Vwa8 T C 14: 79,275,587 (GRCm39) V790A probably benign Het
Zfp936 A G 7: 42,839,720 (GRCm39) T396A possibly damaging Het
Other mutations in Gal3st2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0593:Gal3st2b UTSW 1 93,868,549 (GRCm39) missense probably benign 0.05
R1631:Gal3st2b UTSW 1 93,868,505 (GRCm39) missense probably damaging 0.98
R1753:Gal3st2b UTSW 1 93,868,338 (GRCm39) missense probably damaging 1.00
R2354:Gal3st2b UTSW 1 93,867,508 (GRCm39) missense probably damaging 0.99
R3926:Gal3st2b UTSW 1 93,868,512 (GRCm39) missense probably benign 0.06
R4347:Gal3st2b UTSW 1 93,867,530 (GRCm39) missense probably damaging 1.00
R6132:Gal3st2b UTSW 1 93,867,688 (GRCm39) missense possibly damaging 0.57
R7069:Gal3st2b UTSW 1 93,868,341 (GRCm39) missense possibly damaging 0.95
R7116:Gal3st2b UTSW 1 93,868,498 (GRCm39) missense possibly damaging 0.58
R7662:Gal3st2b UTSW 1 93,868,614 (GRCm39) missense probably damaging 1.00
R8669:Gal3st2b UTSW 1 93,868,764 (GRCm39) missense possibly damaging 0.90
R8924:Gal3st2b UTSW 1 93,868,653 (GRCm39) missense probably benign 0.18
R8937:Gal3st2b UTSW 1 93,868,570 (GRCm39) missense probably benign 0.15
R9635:Gal3st2b UTSW 1 93,868,777 (GRCm39) missense probably benign 0.12
R9645:Gal3st2b UTSW 1 93,866,328 (GRCm39) missense probably damaging 0.97
R9713:Gal3st2b UTSW 1 93,866,409 (GRCm39) missense probably benign
Z1176:Gal3st2b UTSW 1 93,866,407 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACAACGCTAGTGTGAGCCTG -3'
(R):5'- GCTCTGGATCCTGAAGACAC -3'

Sequencing Primer
(F):5'- GTGTGAGCCTGAAAAATGTCTATGC -3'
(R):5'- ACCTCTTCTGTGAGCTGGCG -3'
Posted On 2019-11-26