Incidental Mutation 'R6258:Sord'
ID 506452
Institutional Source Beutler Lab
Gene Symbol Sord
Ensembl Gene ENSMUSG00000027227
Gene Name sorbitol dehydrogenase
Synonyms Sodh-1, Sdh1, Sdh-1
MMRRC Submission 044375-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6258 (G1)
Quality Score 180.009
Status Validated
Chromosome 2
Chromosomal Location 122065320-122095818 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 122089613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110551]
AlphaFold Q64442
Predicted Effect probably null
Transcript: ENSMUST00000110551
SMART Domains Protein: ENSMUSP00000106180
Gene: ENSMUSG00000027227

DomainStartEndE-ValueType
Pfam:ADH_N 32 143 1.3e-24 PFAM
Pfam:Glu_dehyd_C 149 349 5.1e-12 PFAM
Pfam:AlaDh_PNT_C 161 242 6e-8 PFAM
Pfam:ADH_zinc_N 183 313 3.1e-25 PFAM
Meta Mutation Damage Score 0.9498 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for a functional null allele found in strain C57BL/LiA exhibit no obvious abnormalities in the kidney or other physiological systems. An additional isoelectric focusing variant is found in Peru stocks and has about 25% of the activity of that in most inbred strains. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T C 7: 82,178,191 (GRCm39) probably null Het
Alms1 A T 6: 85,605,717 (GRCm39) K2456* probably null Het
Alppl2 A T 1: 87,016,184 (GRCm39) M225K probably damaging Het
AU041133 A G 10: 81,986,992 (GRCm39) E215G probably damaging Het
Carmil3 T A 14: 55,737,889 (GRCm39) L815Q probably damaging Het
Casr A G 16: 36,337,971 (GRCm39) C60R probably damaging Het
Cdc7 A G 5: 107,117,093 (GRCm39) K84E probably damaging Het
Cdc73 G A 1: 143,567,211 (GRCm39) T104I probably benign Het
Clcc1 G A 3: 108,580,624 (GRCm39) V313I possibly damaging Het
Cntn3 A G 6: 102,254,178 (GRCm39) probably null Het
Crocc2 A G 1: 93,141,360 (GRCm39) K1171R possibly damaging Het
Ctsa T C 2: 164,676,281 (GRCm39) V86A probably damaging Het
Cyp2s1 ACAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAG 7: 25,515,867 (GRCm39) probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah17 C A 11: 118,017,148 (GRCm39) W197C probably damaging Het
Dnah17 A T 11: 118,017,150 (GRCm39) W197R probably damaging Het
Dnah17 C T 11: 118,017,149 (GRCm39) W197* probably null Het
Egflam T A 15: 7,263,773 (GRCm39) T726S probably damaging Het
Eml2 T G 7: 18,913,289 (GRCm39) probably null Het
Ercc6 T A 14: 32,279,813 (GRCm39) D609E probably benign Het
Erg C A 16: 95,181,100 (GRCm39) R147L probably damaging Het
Faiml T C 9: 99,114,513 (GRCm39) I125M possibly damaging Het
Fbxo41 A T 6: 85,455,537 (GRCm39) L549H probably damaging Het
Fbxw2 A T 2: 34,702,825 (GRCm39) probably null Het
Fgd6 T A 10: 93,880,161 (GRCm39) N338K probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm32742 T A 9: 51,068,862 (GRCm39) I200F probably damaging Het
Gm4924 T G 10: 82,213,307 (GRCm39) probably benign Het
Gm8369 G A 19: 11,488,973 (GRCm39) A87T possibly damaging Het
H2-M10.1 T A 17: 36,634,994 (GRCm39) I304F unknown Het
Ighv5-8 A G 12: 113,618,611 (GRCm39) T9A possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jakmip1 G T 5: 37,299,104 (GRCm39) E775* probably null Het
Klhl40 T C 9: 121,607,026 (GRCm39) F62S probably damaging Het
Krtcap3 A T 5: 31,409,572 (GRCm39) R84W probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lins1 T C 7: 66,360,496 (GRCm39) probably null Het
Magi3 A G 3: 103,996,912 (GRCm39) L211P probably damaging Het
Map2k5 T A 9: 63,124,647 (GRCm39) I359F probably benign Het
Map4k5 C A 12: 69,878,336 (GRCm39) R355L probably benign Het
Mef2c T A 13: 83,801,057 (GRCm39) D252E probably damaging Het
Methig1 T C 15: 100,251,422 (GRCm39) V111A possibly damaging Het
Mical3 A T 6: 120,985,991 (GRCm39) L150Q probably damaging Het
Nf1 A T 11: 79,456,581 (GRCm39) probably null Het
Nisch T A 14: 30,899,085 (GRCm39) probably benign Het
Or4f15 C T 2: 111,814,396 (GRCm39) V8I probably benign Het
Or5p61 T C 7: 107,758,181 (GRCm39) N300D probably damaging Het
Pcdhb12 T C 18: 37,569,892 (GRCm39) V346A probably benign Het
Pde7b T C 10: 20,316,546 (GRCm39) D168G possibly damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Pla2g4a A G 1: 149,733,238 (GRCm39) S504P probably benign Het
Plin2 G T 4: 86,575,526 (GRCm39) A341D probably damaging Het
Psma8 A G 18: 14,854,324 (GRCm39) D68G probably damaging Het
Rcor3 G A 1: 191,808,559 (GRCm39) H207Y probably benign Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Ryr3 A G 2: 112,490,449 (GRCm39) F3795S probably damaging Het
Samm50 C G 15: 84,084,512 (GRCm39) P150A probably damaging Het
Samm50 C A 15: 84,084,513 (GRCm39) P150H probably damaging Het
Slc28a2b A T 2: 122,353,963 (GRCm39) I530F probably damaging Het
Slc6a18 A T 13: 73,818,164 (GRCm39) C284* probably null Het
Smc3 T A 19: 53,616,162 (GRCm39) probably null Het
Snrnp200 G A 2: 127,060,343 (GRCm39) G529D possibly damaging Het
Spdl1 T A 11: 34,710,713 (GRCm39) N345I probably damaging Het
Sucnr1 T C 3: 59,993,778 (GRCm39) L102P probably damaging Het
Tbc1d9 T C 8: 83,937,145 (GRCm39) W76R probably damaging Het
Tcerg1 T A 18: 42,686,530 (GRCm39) Y696N probably damaging Het
Thsd7b A G 1: 129,595,655 (GRCm39) T492A probably benign Het
Trdmt1 T A 2: 13,524,870 (GRCm39) Q195L probably benign Het
Ubr3 A G 2: 69,813,208 (GRCm39) probably null Het
Ung A T 5: 114,275,361 (GRCm39) Y250F probably benign Het
Vezf1 A G 11: 87,972,326 (GRCm39) N229S probably damaging Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Wdr97 C A 15: 76,239,895 (GRCm39) S277* probably null Het
Zfp1007 T C 5: 109,824,433 (GRCm39) H339R probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zscan4-ps1 C A 7: 10,799,829 (GRCm39) E353D probably benign Het
Other mutations in Sord
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Sord APN 2 122,094,564 (GRCm39) missense probably benign 0.28
R6015:Sord UTSW 2 122,087,424 (GRCm39) missense probably damaging 1.00
R6260:Sord UTSW 2 122,089,613 (GRCm39) critical splice donor site probably null
R6417:Sord UTSW 2 122,094,602 (GRCm39) missense possibly damaging 0.93
R6420:Sord UTSW 2 122,094,602 (GRCm39) missense possibly damaging 0.93
R6940:Sord UTSW 2 122,094,536 (GRCm39) missense probably damaging 0.99
R7800:Sord UTSW 2 122,089,561 (GRCm39) missense probably damaging 0.97
R7903:Sord UTSW 2 122,093,706 (GRCm39) missense probably benign 0.02
R8369:Sord UTSW 2 122,076,976 (GRCm39) missense probably benign 0.01
R8520:Sord UTSW 2 122,087,423 (GRCm39) missense possibly damaging 0.76
R8805:Sord UTSW 2 122,094,607 (GRCm39) missense probably benign
R9673:Sord UTSW 2 122,090,712 (GRCm39) missense probably benign 0.01
R9789:Sord UTSW 2 122,093,765 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGCAATTGCATAGACACTAGC -3'
(R):5'- AGAACGAGGCCAGCTGTTTC -3'

Sequencing Primer
(F):5'- TTGCATAGACACTAGCAACACATG -3'
(R):5'- CAGATGTGGTAGCCATGCCTTTAATC -3'
Posted On 2018-03-15