Incidental Mutation 'R7800:Sord'
ID 600461
Institutional Source Beutler Lab
Gene Symbol Sord
Ensembl Gene ENSMUSG00000027227
Gene Name sorbitol dehydrogenase
Synonyms Sodh-1, Sdh1, Sdh-1
MMRRC Submission 045855-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7800 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 122065320-122095818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122089561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 187 (V187A)
Ref Sequence ENSEMBL: ENSMUSP00000106180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110551]
AlphaFold Q64442
Predicted Effect probably damaging
Transcript: ENSMUST00000110551
AA Change: V187A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106180
Gene: ENSMUSG00000027227
AA Change: V187A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,078,698 (GRCm39) D1264G probably benign Het
Ace T C 11: 105,876,884 (GRCm39) F1122S probably damaging Het
Actr10 T G 12: 70,990,283 (GRCm39) Y112D probably benign Het
Cacnb1 T G 11: 97,900,121 (GRCm39) I346L possibly damaging Het
Camsap2 T C 1: 136,209,639 (GRCm39) T607A probably damaging Het
Cby3 T C 11: 50,250,175 (GRCm39) F32S probably damaging Het
Cers5 G T 15: 99,634,122 (GRCm39) H409N probably benign Het
Ces1h A T 8: 94,106,322 (GRCm39) L11H Het
Clcnkb T C 4: 141,141,833 (GRCm39) Y51C probably benign Het
Cnnm2 A G 19: 46,866,420 (GRCm39) E856G probably benign Het
Cnot1 A G 8: 96,491,690 (GRCm39) V378A probably benign Het
Crisp4 A C 1: 18,198,973 (GRCm39) S154A probably benign Het
Disp1 C T 1: 182,880,550 (GRCm39) R241Q probably benign Het
Ermard G A 17: 15,277,065 (GRCm39) R429H probably benign Het
Extl1 C T 4: 134,098,929 (GRCm39) G34D probably benign Het
Gen1 T C 12: 11,291,863 (GRCm39) D707G probably benign Het
H1f3 C A 13: 23,739,541 (GRCm39) T93N possibly damaging Het
Igkv5-37 A C 6: 69,940,499 (GRCm39) S48R possibly damaging Het
Ilvbl C T 10: 78,419,809 (GRCm39) A571V possibly damaging Het
Itgb1 A G 8: 129,439,718 (GRCm39) K136E possibly damaging Het
Lhx8 A G 3: 154,027,284 (GRCm39) F253L probably damaging Het
Naa25 A G 5: 121,562,594 (GRCm39) T459A possibly damaging Het
Nr3c2 A G 8: 77,636,621 (GRCm39) Y574C probably damaging Het
Nrxn1 C T 17: 91,396,635 (GRCm39) probably benign Het
Ntrk3 T A 7: 77,952,488 (GRCm39) R576S probably benign Het
Nup210l A G 3: 90,041,904 (GRCm39) Y403C probably damaging Het
Or2ag12 A G 7: 106,276,781 (GRCm39) V304A probably benign Het
Or8b53 T G 9: 38,667,914 (GRCm39) L310W probably damaging Het
Otogl T A 10: 107,722,376 (GRCm39) Y326F probably damaging Het
Pcdha1 T A 18: 37,064,426 (GRCm39) D363E probably damaging Het
Pcdhb3 T A 18: 37,434,974 (GRCm39) N313K probably benign Het
Pcdhb9 A C 18: 37,534,602 (GRCm39) S199R probably benign Het
Pde4dip C T 3: 97,622,599 (GRCm39) D1537N probably damaging Het
Pinx1 A G 14: 64,156,984 (GRCm39) K304E probably benign Het
Pnlip T C 19: 58,670,134 (GRCm39) V458A probably benign Het
Polr3a C A 14: 24,534,455 (GRCm39) M60I probably null Het
Qrich2 G T 11: 116,347,686 (GRCm39) S1046* probably null Het
Rigi T C 4: 40,211,618 (GRCm39) E650G probably benign Het
Rps6ka5 G A 12: 100,524,824 (GRCm39) P638S probably damaging Het
Slc6a13 T A 6: 121,298,658 (GRCm39) N158K probably damaging Het
Sult2a2 A G 7: 13,468,710 (GRCm39) T59A probably benign Het
Thbs2 T C 17: 14,896,558 (GRCm39) D777G probably damaging Het
Tmed9 A G 13: 55,743,345 (GRCm39) D159G probably benign Het
Trbc1 A G 6: 41,516,195 (GRCm39) I142V Het
Usp17ld A G 7: 102,900,041 (GRCm39) V297A probably damaging Het
Vmn1r167 A T 7: 23,204,069 (GRCm39) *316R probably null Het
Wdr59 C A 8: 112,248,570 (GRCm39) R15L Het
Zfp189 C T 4: 49,529,367 (GRCm39) P157S possibly damaging Het
Zfp407 C T 18: 84,578,800 (GRCm39) G771D probably damaging 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
R6258:Sord UTSW 2 122,089,613 (GRCm39) critical splice donor site probably null
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
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'- AAATCTTAGCGTGTGCCAGG -3'
(R):5'- CTTTCTAAGCAAGAGCAGAGAAC -3'

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