Incidental Mutation 'R4713:Slc35d2'
ID 353395
Institutional Source Beutler Lab
Gene Symbol Slc35d2
Ensembl Gene ENSMUSG00000033114
Gene Name solute carrier family 35, member D2
Synonyms hfrc, 5730408I21Rik, SQV7L, UGTrel8
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 64244122-64277182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64247097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 261 (V261A)
Ref Sequence ENSEMBL: ENSMUSP00000152341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099441] [ENSMUST00000220792] [ENSMUST00000222794] [ENSMUST00000223461]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000099441
AA Change: V261A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097040
Gene: ENSMUSG00000033114
AA Change: V261A

DomainStartEndE-ValueType
Pfam:TPT 12 301 4e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220792
AA Change: V261A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222692
Predicted Effect probably benign
Transcript: ENSMUST00000222794
Predicted Effect probably benign
Transcript: ENSMUST00000223461
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging Het
Other mutations in Slc35d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Slc35d2 APN 13 64,246,162 (GRCm39) missense probably damaging 1.00
IGL02315:Slc35d2 APN 13 64,254,849 (GRCm39) missense possibly damaging 0.87
R1612:Slc35d2 UTSW 13 64,259,324 (GRCm39) splice site probably benign
R2368:Slc35d2 UTSW 13 64,277,119 (GRCm39) start codon destroyed probably null 0.01
R5338:Slc35d2 UTSW 13 64,245,496 (GRCm39) missense possibly damaging 0.68
R5823:Slc35d2 UTSW 13 64,268,419 (GRCm39) missense probably damaging 0.98
R5840:Slc35d2 UTSW 13 64,266,227 (GRCm39) splice site probably null
R8020:Slc35d2 UTSW 13 64,254,857 (GRCm39) missense probably benign 0.05
R9032:Slc35d2 UTSW 13 64,256,227 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAATTATGCCCTCACCTGC -3'
(R):5'- CACCATGAGAAACGCTTATGC -3'

Sequencing Primer
(F):5'- CTCACCTGCCTCCAATTTTAAAG -3'
(R):5'- TTATGCGCAGGCTGAACC -3'
Posted On 2015-10-21