Incidental Mutation 'R8369:Sord'
ID 646280
Institutional Source Beutler Lab
Gene Symbol Sord
Ensembl Gene ENSMUSG00000027227
Gene Name sorbitol dehydrogenase
Synonyms Sodh-1, Sdh1, Sdh-1
MMRRC Submission 067739-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8369 (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 A at 122076976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 27 (I27K)
Ref Sequence ENSEMBL: ENSMUSP00000106180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110551]
AlphaFold Q64442
Predicted Effect probably benign
Transcript: ENSMUST00000110551
AA Change: I27K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000106180
Gene: ENSMUSG00000027227
AA Change: I27K

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: 99.6%
  • 20x: 98.7%
Validation Efficiency
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
4932438H23Rik G A 16: 90,852,657 (GRCm39) H160Y probably benign Het
Abcc4 T G 14: 118,864,869 (GRCm39) I386L probably benign Het
Arap2 G A 5: 62,761,669 (GRCm39) R1686* probably null Het
Arfgef3 A T 10: 18,465,477 (GRCm39) I2122N probably benign Het
Arhgap44 A T 11: 64,950,680 (GRCm39) D119E probably damaging Het
Atp2b2 C T 6: 113,790,747 (GRCm39) probably null Het
Bltp1 T A 3: 37,065,752 (GRCm39) L9M Het
Brinp1 A T 4: 68,716,936 (GRCm39) L304Q possibly damaging Het
C2cd3 T C 7: 100,044,465 (GRCm39) V349A probably benign Het
Ccdc93 T C 1: 121,405,597 (GRCm39) Y347H probably damaging Het
Ccdc93 T G 1: 121,422,126 (GRCm39) I534S probably benign Het
Cyb5r4 A T 9: 86,922,486 (GRCm39) D165V probably benign Het
Cygb G A 11: 116,540,109 (GRCm39) T180I probably benign Het
Cyp4f15 T A 17: 32,916,939 (GRCm39) S285R probably benign Het
Daxx G T 17: 34,131,590 (GRCm39) C433F probably damaging Het
Dcaf6 T C 1: 165,185,043 (GRCm39) E483G probably damaging Het
Dennd1a T A 2: 37,938,766 (GRCm39) I115F probably damaging Het
Dnajc5b A G 3: 19,664,796 (GRCm39) D198G probably damaging Het
Ercc1 T A 7: 19,088,377 (GRCm39) C243* probably null Het
Ermard T C 17: 15,273,560 (GRCm39) F382L probably damaging Het
Fer1l4 C A 2: 155,861,680 (GRCm39) G1879V probably benign Het
Focad T A 4: 88,150,905 (GRCm39) H516Q unknown Het
Gcsam T A 16: 45,436,369 (GRCm39) W51R probably damaging Het
Ikbkb A G 8: 23,181,097 (GRCm39) V122A probably benign Het
Iqgap2 A T 13: 95,798,111 (GRCm39) S1065T probably damaging Het
Kif16b G A 2: 142,553,777 (GRCm39) A1007V probably benign Het
Krt24 A T 11: 99,173,534 (GRCm39) C262* probably null Het
Lrat T C 3: 82,810,865 (GRCm39) E52G probably damaging Het
Misp3 T A 8: 84,737,627 (GRCm39) H94L unknown Het
N4bp3 A G 11: 51,535,253 (GRCm39) L312P probably damaging Het
Naxe T C 3: 87,963,994 (GRCm39) T246A probably benign Het
Pcolce2 A T 9: 95,519,847 (GRCm39) M1L probably benign Het
Slc7a6 G A 8: 106,919,796 (GRCm39) A270T probably damaging Het
Srek1ip1 A G 13: 104,970,798 (GRCm39) E83G probably benign Het
Srgap3 A C 6: 112,699,779 (GRCm39) N1090K probably benign Het
Sult2a6 A C 7: 13,987,327 (GRCm39) probably null Het
Tacc2 T A 7: 130,223,888 (GRCm39) I191N probably damaging Het
Thoc3 A G 13: 54,615,708 (GRCm39) S119P probably damaging Het
Tirap A G 9: 35,100,052 (GRCm39) S211P probably benign Het
Tle4 T C 19: 14,429,876 (GRCm39) T632A probably benign Het
Tnfaip8l2 T A 3: 95,047,486 (GRCm39) I126F probably benign Het
Txnrd1 A G 10: 82,710,480 (GRCm39) T114A probably benign Het
Vmn2r14 A G 5: 109,369,342 (GRCm39) L77P probably damaging Het
Wwc1 G A 11: 35,758,198 (GRCm39) T716I probably damaging Het
Yod1 A G 1: 130,645,360 (GRCm39) K47R probably benign Het
Zfhx2 A T 14: 55,304,201 (GRCm39) M1261K probably benign Het
Zfhx3 T C 8: 109,583,448 (GRCm39) I1105T possibly damaging Het
Zfp9 C A 6: 118,441,353 (GRCm39) K436N probably damaging Het
Zfp979 T C 4: 147,697,548 (GRCm39) H387R possibly 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
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
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'- TGACATTATCTGGGCTAATGGC -3'
(R):5'- GCAACTTGGCAGTCTGGTATC -3'

Sequencing Primer
(F):5'- GGTCTCTAGCCTGCCTGATG -3'
(R):5'- CAACTTGGCAGTCTGGTATCTTAGC -3'
Posted On 2020-09-02