Incidental Mutation 'R5067:Akr7a5'
ID 458167
Institutional Source Beutler Lab
Gene Symbol Akr7a5
Ensembl Gene ENSMUSG00000028743
Gene Name aldo-keto reductase family 7, member A5
Synonyms Afar, 0610025K21Rik
MMRRC Submission 042657-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R5067 (G1)
Quality Score 50
Status Validated
Chromosome 4
Chromosomal Location 139038055-139045737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139038333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 90 (S90P)
Ref Sequence ENSEMBL: ENSMUSP00000073459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053862] [ENSMUST00000073787] [ENSMUST00000105801] [ENSMUST00000139840] [ENSMUST00000141007] [ENSMUST00000172747]
AlphaFold Q8CG76
PDB Structure MOUSE SUCCINIC SEMIALDEHYDE REDUCTASE, AKR7A5 [X-RAY DIFFRACTION]
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 damaging
Transcript: ENSMUST00000073787
AA Change: S90P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073459
Gene: ENSMUSG00000028743
AA Change: S90P

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
Meta Mutation Damage Score 0.6324 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 100% (54/54)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T C 12: 112,748,936 (GRCm39) N304D probably benign Het
Aplnr T A 2: 84,967,128 (GRCm39) V51E probably damaging Het
Arhgap21 A T 2: 20,884,848 (GRCm39) H776Q probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Bsn T A 9: 107,989,152 (GRCm39) Y2200F probably damaging Het
Btbd10 A T 7: 112,925,043 (GRCm39) D268E probably damaging Het
Cacna1h T C 17: 25,616,782 (GRCm39) N113D probably damaging Het
Cfap54 T C 10: 92,902,628 (GRCm39) N175D probably benign Het
Cfap61 A G 2: 145,943,956 (GRCm39) D134G probably damaging Het
Clybl A T 14: 122,616,701 (GRCm39) I239L possibly damaging Het
Defb11 A T 8: 22,396,352 (GRCm39) F15Y probably damaging Het
Dlc1 A G 8: 37,051,647 (GRCm39) S695P probably benign Het
Fbxl5 T C 5: 43,916,114 (GRCm39) K432E probably benign Het
Fryl T C 5: 73,215,098 (GRCm39) E2226G probably benign Het
Gm10337 T A 15: 102,412,306 (GRCm39) probably null Het
Gm5828 A G 1: 16,839,516 (GRCm39) noncoding transcript Het
Gm8674 A T 13: 50,053,870 (GRCm39) noncoding transcript Het
Ighv6-5 T C 12: 114,380,191 (GRCm39) probably null Het
Insyn2a A T 7: 134,520,284 (GRCm39) V82E probably benign Het
Ints14 C A 9: 64,871,694 (GRCm39) L11M probably damaging Het
Kcp G A 6: 29,492,107 (GRCm39) P153L probably benign Het
Lrrk2 A C 15: 91,649,993 (GRCm39) N1710T probably benign Het
Marchf10 T A 11: 105,280,933 (GRCm39) T451S possibly damaging Het
Mcf2l T G 8: 12,965,959 (GRCm39) probably benign Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Neurod2 T A 11: 98,218,063 (GRCm39) H367L possibly damaging Het
Nfatc4 A T 14: 56,069,875 (GRCm39) Q681L probably damaging Het
Nkx3-2 T C 5: 41,919,220 (GRCm39) N256S probably damaging Het
Ntng1 G A 3: 110,042,661 (GRCm39) T55M possibly damaging Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Syt7 T C 19: 10,420,222 (GRCm39) V382A possibly damaging Het
Trim72 T C 7: 127,609,139 (GRCm39) S314P possibly damaging Het
Ttc41 T C 10: 86,580,408 (GRCm39) S785P probably damaging Het
Ube2z C T 11: 95,953,835 (GRCm39) V128I probably benign Het
Vps26c T A 16: 94,327,263 (GRCm39) probably benign Het
Wdr43 T C 17: 71,933,849 (GRCm39) Y149H probably benign Het
Wnk4 T A 11: 101,153,682 (GRCm39) V248E probably damaging Het
Zcchc2 A T 1: 105,958,694 (GRCm39) N1055I probably damaging Het
Zdhhc23 T C 16: 43,794,134 (GRCm39) Y180C probably benign 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
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'- TGTCAGCTTCAGGATCCGAG -3'
(R):5'- TTCAGTTCACTAGTTCAGGACTC -3'

Sequencing Primer
(F):5'- TGAAGCTTCGAGTGCGCAG -3'
(R):5'- ACTAGTTCAGGACTCCAGTTGC -3'
Posted On 2017-02-20