Incidental Mutation 'R9413:Akr7a5'
ID 731324
Institutional Source Beutler Lab
Gene Symbol Akr7a5
Ensembl Gene ENSMUSG00000028743
Gene Name aldo-keto reductase family 7, member A5
Synonyms Afar, 0610025K21Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R9413 (G1)
Quality Score 51.0072
Status Validated
Chromosome 4
Chromosomal Location 139038055-139045737 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 139038059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053862] [ENSMUST00000073787] [ENSMUST00000105801] [ENSMUST00000139840] [ENSMUST00000141007] [ENSMUST00000172747]
AlphaFold Q8CG76
Predicted Effect probably benign
Transcript: ENSMUST00000053862
SMART Domains Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073787
SMART Domains Protein: ENSMUSP00000073459
Gene: ENSMUSG00000028743

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 probably benign
Transcript: ENSMUST00000105801
SMART Domains Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139840
SMART Domains Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141007
Predicted Effect probably benign
Transcript: ENSMUST00000172747
SMART Domains Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (35/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,422 (GRCm39) T1194S probably benign Het
Ap3b2 G T 7: 81,127,757 (GRCm39) P140T possibly damaging Het
Ap3s1 T C 18: 46,887,531 (GRCm39) probably null Het
Arrdc2 C T 8: 71,288,892 (GRCm39) R381H probably damaging Het
Atg13 T C 2: 91,511,970 (GRCm39) D286G probably benign Het
C1qtnf4 T C 2: 90,720,648 (GRCm39) F307S probably damaging Het
Cdk5rap1 A T 2: 154,207,880 (GRCm39) probably null Het
Chsy3 C T 18: 59,309,170 (GRCm39) A141V possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
D5Ertd579e A G 5: 36,772,278 (GRCm39) S706P probably damaging Het
Ell2 A G 13: 75,917,705 (GRCm39) D545G Het
Ephb6 T C 6: 41,591,509 (GRCm39) L222P Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Gm6619 A T 6: 131,468,370 (GRCm39) D167V unknown Het
Gucy2c T C 6: 136,700,771 (GRCm39) D581G possibly damaging Het
Hectd1 G A 12: 51,792,880 (GRCm39) R2471* probably null Het
Kif1a A T 1: 92,949,019 (GRCm39) M1501K probably benign Het
Mycbpap A G 11: 94,392,321 (GRCm39) V390A probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pex3 A G 10: 13,410,454 (GRCm39) Y236H probably damaging Het
Pglyrp3 G T 3: 91,930,106 (GRCm39) A91S probably damaging Het
Ppp1ca T C 19: 4,244,897 (GRCm39) S292P probably damaging Het
Prkci T C 3: 31,097,915 (GRCm39) V455A probably damaging Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Psd4 C T 2: 24,287,472 (GRCm39) T468I probably benign Het
Rnf213 A G 11: 119,357,059 (GRCm39) E4203G Het
Snrnp27 T C 6: 86,653,255 (GRCm39) D121G possibly damaging Het
Spag6 A T 2: 18,739,029 (GRCm39) M320L probably benign Het
Spata16 T A 3: 26,978,486 (GRCm39) M484K possibly damaging Het
Trim69 G A 2: 122,009,083 (GRCm39) W381* probably null Het
Tubgcp3 A C 8: 12,674,885 (GRCm39) I745S probably damaging Het
Ubxn2b A G 4: 6,204,607 (GRCm39) D156G probably damaging Het
Vmn2r103 A G 17: 20,032,158 (GRCm39) N644S possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AAAAGACTTAGCTGGGCGCG -3'
(R):5'- AGTACATGAAGGCCGTGTCC -3'

Sequencing Primer
(F):5'- CGTCTGGAGTCCCGACC -3'
(R):5'- GCTAGCACTCGCATCCATG -3'
Posted On 2022-10-24