Incidental Mutation 'R9673:Sord'
ID 728131
Institutional Source Beutler Lab
Gene Symbol Sord
Ensembl Gene ENSMUSG00000027227
Gene Name sorbitol dehydrogenase
Synonyms Sodh-1, Sdh1, Sdh-1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9673 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 122065320-122095818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 122090712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 221 (T221I)
Ref Sequence ENSEMBL: ENSMUSP00000106180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110551]
AlphaFold Q64442
Predicted Effect probably benign
Transcript: ENSMUST00000110551
AA Change: T221I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106180
Gene: ENSMUSG00000027227
AA Change: T221I

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,399 (GRCm39) K318E probably benign Het
Ap5z1 T C 5: 142,463,113 (GRCm39) F766L probably benign Het
Atrnl1 A G 19: 57,599,786 (GRCm39) M1V probably null Het
Atxn1 T C 13: 45,710,622 (GRCm39) E770G probably benign Het
Brwd1 T G 16: 95,813,096 (GRCm39) I1471L probably benign Het
Bud23 T C 5: 135,082,571 (GRCm39) E66G probably benign Het
Cdh8 T A 8: 99,757,367 (GRCm39) I744L possibly damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cep95 C A 11: 106,703,322 (GRCm39) H467Q probably benign Het
Chd1 A G 17: 15,989,023 (GRCm39) Y1592C probably benign Het
Chkb C G 15: 89,313,628 (GRCm39) G59A probably damaging Het
Copa A G 1: 171,945,648 (GRCm39) S915G probably benign Het
Creb3 G T 4: 43,563,191 (GRCm39) V97F probably damaging Het
Csmd2 T A 4: 128,308,062 (GRCm39) H1273Q Het
Cxcr1 T C 1: 74,231,074 (GRCm39) N316S probably benign Het
Cyct A T 2: 76,184,523 (GRCm39) I76N probably damaging Het
Dmxl2 G T 9: 54,294,840 (GRCm39) R2412S probably damaging Het
Dnah11 A G 12: 117,982,513 (GRCm39) M2552T possibly damaging Het
Dnph1 G A 17: 46,809,901 (GRCm39) E148K possibly damaging Het
Ecpas T C 4: 58,822,060 (GRCm39) N1169S probably benign Het
Esp16 T A 17: 39,848,731 (GRCm39) Y8* probably null Het
Fam186a T C 15: 99,841,024 (GRCm39) D1740G possibly damaging Het
Fam76a C A 4: 132,628,557 (GRCm39) K300N probably damaging Het
Fcgbpl1 A G 7: 27,856,044 (GRCm39) T1944A probably benign Het
Frrs1l A C 4: 56,990,191 (GRCm39) D27E Het
G6pc1 T C 11: 101,267,380 (GRCm39) S277P probably damaging Het
Gabrg3 T A 7: 56,973,422 (GRCm39) I82F probably damaging Het
Gm3604 G T 13: 62,517,969 (GRCm39) Q130K probably benign Het
Hhip T A 8: 80,719,108 (GRCm39) D473V probably damaging Het
Ifi209 T C 1: 173,470,332 (GRCm39) S307P probably damaging Het
Ino80c C T 18: 24,254,856 (GRCm39) M1I probably null Het
Jag2 G T 12: 112,875,416 (GRCm39) C872* probably null Het
Kcnma1 A C 14: 23,558,123 (GRCm39) H474Q probably benign Het
Krr1 G A 10: 111,818,963 (GRCm39) probably null Het
Lats1 T G 10: 7,588,387 (GRCm39) D1001E probably benign Het
Lilrb4b T C 10: 51,357,753 (GRCm39) L149P probably benign Het
Lrrk2 T A 15: 91,649,884 (GRCm39) S1674T probably damaging Het
Magi2 A G 5: 20,670,582 (GRCm39) I309V possibly damaging Het
Mtmr4 T C 11: 87,504,916 (GRCm39) V1137A probably damaging Het
Mtmr4 A G 11: 87,503,138 (GRCm39) D1064G probably damaging Het
Neb C T 2: 52,133,853 (GRCm39) probably null Het
Nhsl1 T A 10: 18,402,665 (GRCm39) V1297E possibly damaging Het
Nlrp3 T A 11: 59,440,148 (GRCm39) V575D probably damaging Het
Nptx2 T C 5: 144,492,159 (GRCm39) I312T possibly damaging Het
Osm A G 11: 4,189,926 (GRCm39) T237A probably benign Het
Pcdha12 T C 18: 37,155,234 (GRCm39) V651A possibly damaging Het
Pclo A G 5: 14,908,758 (GRCm39) probably null Het
Pdlim3 C T 8: 46,368,195 (GRCm39) S183L possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pgm2 T A 5: 64,273,671 (GRCm39) M552K probably damaging Het
Pkhd1l1 T C 15: 44,386,901 (GRCm39) L1258S probably benign Het
Proser3 T G 7: 30,248,530 (GRCm39) T55P probably damaging Het
Ranbp2 C A 10: 58,300,963 (GRCm39) P611Q probably damaging Het
Rangap1 T C 15: 81,590,637 (GRCm39) D485G probably benign Het
Rp1 G A 1: 4,337,792 (GRCm39) T421I unknown Het
Ryr3 G A 2: 112,486,883 (GRCm39) L3862F possibly damaging Het
Sbf1 C T 15: 89,179,675 (GRCm39) G1337R possibly damaging Het
Setd2 A G 9: 110,378,138 (GRCm39) E651G probably damaging Het
Shmt1 A G 11: 60,692,769 (GRCm39) W105R probably damaging Het
Skor2 C T 18: 76,946,376 (GRCm39) H33Y unknown Het
Slc22a29 T C 19: 8,140,104 (GRCm39) I434V probably benign Het
Speer1g T A 5: 11,178,990 (GRCm39) N55K probably benign Het
Tbcd T C 11: 121,464,647 (GRCm39) Y561H probably damaging Het
Tcaf1 G A 6: 42,663,808 (GRCm39) S24F probably benign Het
Tenm4 A T 7: 96,517,196 (GRCm39) D1429V probably damaging Het
Tesk1 A G 4: 43,444,574 (GRCm39) Y126C probably damaging Het
Tmem176a G A 6: 48,820,952 (GRCm39) V141I probably benign Het
Tmem204 A T 17: 25,299,243 (GRCm39) V92D probably damaging Het
Ttn T A 2: 76,572,605 (GRCm39) D26096V probably damaging Het
Vmn1r70 T A 7: 10,368,364 (GRCm39) L284Q probably damaging Het
Vmn2r77 T C 7: 86,450,171 (GRCm39) V139A possibly damaging Het
Wdpcp A G 11: 21,671,285 (GRCm39) R509G possibly damaging Het
Wee1 C T 7: 109,725,210 (GRCm39) T284I probably damaging Het
Wfs1 A G 5: 37,125,113 (GRCm39) S593P probably damaging Het
Zbtb11 A G 16: 55,827,336 (GRCm39) H934R probably damaging Het
Zfp277 A T 12: 40,370,611 (GRCm39) V446E probably benign Het
Zfp874a C A 13: 67,591,156 (GRCm39) R176L probably benign Het
Znrf2 A T 6: 54,840,978 (GRCm39) N184I probably damaging Het
Zp2 T A 7: 119,733,238 (GRCm39) T568S 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
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
R9789:Sord UTSW 2 122,093,765 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2022-10-06