Incidental Mutation 'R4372:Slc35b2'
ID 326036
Institutional Source Beutler Lab
Gene Symbol Slc35b2
Ensembl Gene ENSMUSG00000037089
Gene Name solute carrier family 35, member B2
Synonyms PAPST1, 1110003M08Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # R4372 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 45874844-45878597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45877355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 161 (V161M)
Ref Sequence ENSEMBL: ENSMUSP00000153367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000024742] [ENSMUST00000041353] [ENSMUST00000224905] [ENSMUST00000223987] [ENSMUST00000226086] [ENSMUST00000163966] [ENSMUST00000165127] [ENSMUST00000166469]
AlphaFold Q91ZN5
Predicted Effect probably benign
Transcript: ENSMUST00000024739
SMART Domains Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
HATPase_c 35 189 3.82e-10 SMART
Pfam:HSP90 191 719 5.4e-246 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000024742
SMART Domains Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
low complexity region 93 110 N/A INTRINSIC
ANK 122 152 1.14e2 SMART
ANK 157 187 2.15e0 SMART
ANK 190 219 6.81e-3 SMART
ANK 233 262 5.09e-2 SMART
ANK 267 296 1.12e-3 SMART
ANK 300 329 1e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041353
AA Change: V112M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089
AA Change: V112M

DomainStartEndE-ValueType
Pfam:UAA 62 363 5.1e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151306
Predicted Effect probably benign
Transcript: ENSMUST00000224905
AA Change: V161M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000223987
AA Change: V112M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224559
Predicted Effect probably benign
Transcript: ENSMUST00000226086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225226
Predicted Effect probably benign
Transcript: ENSMUST00000163966
SMART Domains Protein: ENSMUSP00000131601
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
SCOP:d1byqa_ 9 85 9e-40 SMART
PDB:1UYM|A 14 85 3e-45 PDB
Blast:HATPase_c 35 85 9e-29 BLAST
low complexity region 93 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224341
Predicted Effect probably benign
Transcript: ENSMUST00000165127
SMART Domains Protein: ENSMUSP00000126239
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:HSP90 37 161 3.8e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166469
SMART Domains Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944

DomainStartEndE-ValueType
Pfam:HSP90 4 189 1.3e-92 PFAM
Meta Mutation Damage Score 0.1078 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T C 11: 106,919,293 (GRCm39) Y213H probably damaging Het
Alg5 T C 3: 54,646,376 (GRCm39) probably null Het
Bend7 A T 2: 4,754,421 (GRCm39) I175F probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah1 C T 14: 31,026,879 (GRCm39) R715H probably damaging Het
Ipp T A 4: 116,372,560 (GRCm39) D196E possibly damaging Het
Kcna5 A G 6: 126,510,320 (GRCm39) *603Q probably null Het
Kdm3b A G 18: 34,960,497 (GRCm39) T1161A probably benign Het
Kif20a A T 18: 34,762,531 (GRCm39) Q468L probably damaging Het
Map7d2 A G X: 158,273,680 (GRCm39) probably benign Het
Mdn1 A G 4: 32,743,809 (GRCm39) E4015G probably benign Het
Mri1 A G 8: 84,980,554 (GRCm39) V296A probably benign Het
Mtmr7 A G 8: 41,007,386 (GRCm39) S516P probably damaging Het
Pcdhb10 T C 18: 37,546,366 (GRCm39) S481P possibly damaging Het
Pip4p2 C T 4: 14,912,463 (GRCm39) R191C probably damaging Het
Pklr C T 3: 89,052,830 (GRCm39) R528* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Samsn1 G A 16: 75,656,344 (GRCm39) T368I possibly damaging Het
Sema4d T C 13: 51,866,767 (GRCm39) E241G probably damaging Het
Shank2 G A 7: 143,964,599 (GRCm39) G729R probably benign Het
Vmn2r53 A G 7: 12,315,656 (GRCm39) V721A probably damaging Het
Wdr17 T A 8: 55,092,930 (GRCm39) Y1076F probably damaging Het
Wdr75 T C 1: 45,845,833 (GRCm39) probably benign Het
Zhx2 A G 15: 57,686,697 (GRCm39) S689G probably benign Het
Other mutations in Slc35b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Slc35b2 APN 17 45,875,886 (GRCm39) missense probably damaging 0.99
IGL02749:Slc35b2 APN 17 45,877,493 (GRCm39) missense probably benign 0.14
IGL02951:Slc35b2 APN 17 45,875,694 (GRCm39) missense probably damaging 1.00
IGL03382:Slc35b2 APN 17 45,877,571 (GRCm39) missense probably damaging 0.98
R0020:Slc35b2 UTSW 17 45,877,782 (GRCm39) missense probably damaging 1.00
R0368:Slc35b2 UTSW 17 45,877,389 (GRCm39) missense probably benign
R0743:Slc35b2 UTSW 17 45,877,751 (GRCm39) missense probably damaging 1.00
R0884:Slc35b2 UTSW 17 45,877,751 (GRCm39) missense probably damaging 1.00
R2293:Slc35b2 UTSW 17 45,878,067 (GRCm39) missense probably damaging 1.00
R3894:Slc35b2 UTSW 17 45,877,368 (GRCm39) missense probably benign 0.01
R4415:Slc35b2 UTSW 17 45,877,355 (GRCm39) missense probably benign 0.34
R4416:Slc35b2 UTSW 17 45,877,355 (GRCm39) missense probably benign 0.34
R4417:Slc35b2 UTSW 17 45,877,355 (GRCm39) missense probably benign 0.34
R5291:Slc35b2 UTSW 17 45,877,424 (GRCm39) missense probably damaging 1.00
R5314:Slc35b2 UTSW 17 45,877,424 (GRCm39) missense probably damaging 1.00
R5929:Slc35b2 UTSW 17 45,877,587 (GRCm39) missense probably benign 0.35
R6178:Slc35b2 UTSW 17 45,877,302 (GRCm39) missense probably benign 0.10
R7217:Slc35b2 UTSW 17 45,875,955 (GRCm39) missense probably benign 0.19
R7561:Slc35b2 UTSW 17 45,877,727 (GRCm39) missense probably damaging 1.00
R8823:Slc35b2 UTSW 17 45,877,894 (GRCm39) missense probably damaging 1.00
R8956:Slc35b2 UTSW 17 45,877,673 (GRCm39) missense probably damaging 0.98
R9401:Slc35b2 UTSW 17 45,877,910 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGCTACCAACTCTGAGGAAGTAG -3'
(R):5'- CCATCATCATGACAGGGATCAC -3'

Sequencing Primer
(F):5'- CTCTGAGGAAGTAGGAAACAGACTTC -3'
(R):5'- ATCACCTTGGAGGCCTTCG -3'
Posted On 2015-07-06