Incidental Mutation 'R1403:Akr7a5'
ID 500222
Institutional Source Beutler Lab
Gene Symbol Akr7a5
Ensembl Gene ENSMUSG00000028743
Gene Name aldo-keto reductase family 7, member A5
Synonyms Afar, 0610025K21Rik
MMRRC Submission 039465-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R1403 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 139038055-139045737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139045434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 325 (M325K)
Ref Sequence ENSEMBL: ENSMUSP00000073459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073787]
AlphaFold Q8CG76
PDB Structure MOUSE SUCCINIC SEMIALDEHYDE REDUCTASE, AKR7A5 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000073787
AA Change: M325K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073459
Gene: ENSMUSG00000028743
AA Change: M325K

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 25 47 N/A INTRINSIC
Pfam:Aldo_ket_red 48 356 4.4e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153645
Meta Mutation Damage Score 0.6045 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.5%
  • 10x: 88.5%
  • 20x: 65.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 G T 11: 94,453,700 (GRCm39) N420K probably benign Het
Adam26a A T 8: 44,022,229 (GRCm39) C420* probably null Het
Afap1l1 T C 18: 61,874,909 (GRCm39) Y424C probably damaging Het
Agl A G 3: 116,576,246 (GRCm39) V553A probably benign Het
Aldh7a1 C A 18: 56,692,341 (GRCm39) E87* probably null Het
Arhgap29 A G 3: 121,767,578 (GRCm39) K7E probably damaging Het
Brca2 T A 5: 150,466,114 (GRCm39) D1959E probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chil5 G T 3: 105,925,409 (GRCm39) Q171K probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dhrs7c A T 11: 67,702,476 (GRCm39) I155F probably damaging Het
Dip2c A G 13: 9,603,300 (GRCm39) probably null Het
Fam124b T C 1: 80,191,056 (GRCm39) Y109C possibly damaging Het
Gak T A 5: 108,739,011 (GRCm39) K156M probably damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Got1l1 C G 8: 27,690,745 (GRCm39) probably null Het
Grm1 T C 10: 10,955,879 (GRCm39) D135G probably benign Het
Hrh3 T G 2: 179,744,547 (GRCm39) D131A probably damaging Het
Hspg2 C T 4: 137,267,411 (GRCm39) L2042F possibly damaging Het
Itpr1 A T 6: 108,366,514 (GRCm39) Q979L probably null Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Lingo2 A T 4: 35,709,420 (GRCm39) C187S possibly damaging Het
Lrp1 T A 10: 127,417,760 (GRCm39) probably null Het
Ltbp4 T C 7: 27,028,464 (GRCm39) N266S unknown Het
Mgam G A 6: 40,643,815 (GRCm39) S581N possibly damaging Het
Mrgpra9 T A 7: 46,885,386 (GRCm39) I94L probably benign Het
Msantd4 A T 9: 4,384,023 (GRCm39) I115F probably benign Het
Nrxn1 A C 17: 90,950,481 (GRCm39) L566R probably benign Het
Or5p59 T A 7: 107,702,822 (GRCm39) I102N probably benign Het
Prl7d1 A T 13: 27,893,180 (GRCm39) F243I possibly damaging Het
Rbm27 T C 18: 42,450,746 (GRCm39) S509P probably damaging Het
Rnf44 C T 13: 54,829,821 (GRCm39) E306K probably damaging Het
Rp1 T C 1: 4,416,520 (GRCm39) R1531G possibly damaging Het
Sf3b4 A G 3: 96,080,953 (GRCm39) probably null Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Sp110 T G 1: 85,506,800 (GRCm39) E421A probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Vcan T A 13: 89,836,603 (GRCm39) E2980D probably benign Het
Vwa2 C T 19: 56,869,570 (GRCm39) P2S unknown Het
Wdr77 G A 3: 105,874,573 (GRCm39) V322I possibly damaging Het
Zfp12 C A 5: 143,230,535 (GRCm39) Y287* probably null Het
Zfp937 T A 2: 150,080,868 (GRCm39) Y299* probably null Het
Other mutations in Akr7a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Akr7a5 APN 4 139,041,580 (GRCm39) missense probably damaging 1.00
IGL02469:Akr7a5 APN 4 139,041,492 (GRCm39) missense probably damaging 1.00
IGL03155:Akr7a5 APN 4 139,041,837 (GRCm39) nonsense probably null
R1403:Akr7a5 UTSW 4 139,045,434 (GRCm39) missense probably damaging 0.99
R4288:Akr7a5 UTSW 4 139,041,415 (GRCm39) missense probably benign 0.02
R4585:Akr7a5 UTSW 4 139,038,238 (GRCm39) missense probably benign 0.09
R5067:Akr7a5 UTSW 4 139,038,333 (GRCm39) missense probably damaging 1.00
R5293:Akr7a5 UTSW 4 139,041,517 (GRCm39) missense probably benign 0.01
R6296:Akr7a5 UTSW 4 139,045,532 (GRCm39) missense probably benign 0.25
R9279:Akr7a5 UTSW 4 139,044,079 (GRCm39) missense possibly damaging 0.50
R9413:Akr7a5 UTSW 4 139,038,059 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGCTGGTAAAGGCACCTTCAGTTC -3'
(R):5'- GCCAGGTCAGACACCTGCTTTATTC -3'

Sequencing Primer
(F):5'- TAAAGGCACCTTCAGTTCTTCCTG -3'
(R):5'- GACACCTGCTTTATTCAGACAG -3'
Posted On 2017-12-01