Incidental Mutation 'R2570:Akr1c18'
ID 252406
Institutional Source Beutler Lab
Gene Symbol Akr1c18
Ensembl Gene ENSMUSG00000021214
Gene Name aldo-keto reductase family 1, member C18
Synonyms 20alpha-HSD, 20alpha-hydroxysteroid dehydrogenase
MMRRC Submission 040428-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R2570 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 4182614-4200645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4192163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 178 (N178S)
Ref Sequence ENSEMBL: ENSMUSP00000021635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021635] [ENSMUST00000110704]
AlphaFold Q8K023
Predicted Effect probably benign
Transcript: ENSMUST00000021635
AA Change: N178S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: N178S

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 4.2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110704
AA Change: N152S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214
AA Change: N152S

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 275 1.1e-50 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for mutations in this gene display prolonged pregnancies and decreased number of pups. Some cannot induce parturition while others are able to give birth but show a prolonged estrous cycle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,768,267 (GRCm39) N763I probably damaging Het
Actr8 T C 14: 29,709,239 (GRCm39) V281A probably damaging Het
Adam1b A T 5: 121,639,811 (GRCm39) N411K probably damaging Het
Adamdec1 T A 14: 68,816,657 (GRCm39) Q77L probably damaging Het
Adgre4 T A 17: 56,085,878 (GRCm39) F59Y possibly damaging Het
Aldh1a7 T A 19: 20,677,320 (GRCm39) T434S probably benign Het
Bcl10 T A 3: 145,638,785 (GRCm39) N142K probably benign Het
C1qc T C 4: 136,617,402 (GRCm39) I231M probably benign Het
Cacna1b A T 2: 24,496,649 (GRCm39) L2307* probably null Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Cdc42bpa G A 1: 179,977,742 (GRCm39) R1518Q possibly damaging Het
Cdk12 T G 11: 98,094,618 (GRCm39) M142R possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cspg4b C T 13: 113,455,121 (GRCm39) T389I probably benign Het
Cyp2c50 C G 19: 40,078,764 (GRCm39) H90D probably benign Het
Dach1 A G 14: 98,138,847 (GRCm39) M480T probably benign Het
Dennd1a A T 2: 37,734,795 (GRCm39) F57L probably damaging Het
Dhcr24 T C 4: 106,443,029 (GRCm39) F355L probably benign Het
Drc1 A G 5: 30,512,609 (GRCm39) R339G probably damaging Het
Efcab3 T A 11: 104,624,490 (GRCm39) S840R probably damaging Het
Efna5 A T 17: 63,188,023 (GRCm39) Y35N probably benign Het
Ehmt1 A G 2: 24,705,753 (GRCm39) V811A probably damaging Het
Fam135a A T 1: 24,061,045 (GRCm39) V1114E probably damaging Het
Frmd8 C A 19: 5,924,740 (GRCm39) R28L probably damaging Het
Gm9936 A G 5: 114,995,605 (GRCm39) probably benign Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Itgal T C 7: 126,913,268 (GRCm39) F622L probably damaging Het
Kalrn C T 16: 34,130,865 (GRCm39) E451K probably damaging Het
Kat2a A T 11: 100,601,648 (GRCm39) F256I probably damaging Het
Lama4 A T 10: 38,951,354 (GRCm39) D1033V possibly damaging Het
Lama4 T A 10: 38,982,043 (GRCm39) D1757E probably damaging Het
Laptm5 T C 4: 130,659,358 (GRCm39) Y212H probably damaging Het
Lsm10 T C 4: 125,991,716 (GRCm39) L24P probably damaging Het
Mtcl3 A T 10: 29,022,761 (GRCm39) Q36L possibly damaging Het
Mtfp1 T C 11: 4,044,504 (GRCm39) E27G probably damaging Het
Ncaph2 C A 15: 89,254,678 (GRCm39) D399E probably benign Het
Ncor2 T C 5: 125,105,864 (GRCm39) probably null Het
Nek9 A C 12: 85,379,320 (GRCm39) Y195* probably null Het
Npas1 T C 7: 16,208,628 (GRCm39) D83G probably damaging Het
Nrsn2 A T 2: 152,211,741 (GRCm39) F97I possibly damaging Het
Oas1c T C 5: 120,943,503 (GRCm39) N10S probably benign Het
Or2ag12 A G 7: 106,276,874 (GRCm39) I273T probably benign Het
Or55b10 T C 7: 102,143,106 (GRCm39) N292S probably damaging Het
Or7e165 T A 9: 19,695,305 (GRCm39) L292Q probably damaging Het
Pcdha4 A T 18: 37,086,665 (GRCm39) T283S probably benign Het
Pdk1 A C 2: 71,703,904 (GRCm39) D64A possibly damaging Het
Pramel17 T C 4: 101,694,443 (GRCm39) T147A probably benign Het
Ptpdc1 C T 13: 48,739,539 (GRCm39) A631T probably benign Het
Rasal2 G T 1: 156,988,870 (GRCm39) A660E possibly damaging Het
Sgpp2 T A 1: 78,336,787 (GRCm39) V55E possibly damaging Het
Shank2 A T 7: 143,622,507 (GRCm39) I214F probably damaging Het
Slfn14 T C 11: 83,174,433 (GRCm39) N186S probably benign Het
Sptbn5 A T 2: 119,879,121 (GRCm39) noncoding transcript Het
Stradb C T 1: 59,027,743 (GRCm39) T91I probably damaging Het
Sulf2 T C 2: 165,927,721 (GRCm39) I359V probably benign Het
Tbl3 A T 17: 24,922,290 (GRCm39) M405K possibly damaging Het
Tecta G T 9: 42,243,848 (GRCm39) D2001E probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgfbi T A 13: 56,786,521 (GRCm39) probably null Het
Tmem132a A T 19: 10,837,106 (GRCm39) L612Q probably null Het
Tnf T C 17: 35,419,476 (GRCm39) N102S probably damaging Het
Trib3 A T 2: 152,185,156 (GRCm39) V31D probably benign Het
Ube2q2 T A 9: 55,099,140 (GRCm39) F248L probably benign Het
Usf3 T C 16: 44,036,744 (GRCm39) V408A probably benign Het
Vmn1r159 T C 7: 22,542,307 (GRCm39) M242V probably benign Het
Vmn2r105 A T 17: 20,447,585 (GRCm39) L413H probably damaging Het
Zbtb2 T G 10: 4,318,673 (GRCm39) N451T probably damaging Het
Zfp593 C A 4: 133,972,869 (GRCm39) probably benign Het
Other mutations in Akr1c18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Akr1c18 APN 13 4,187,232 (GRCm39) missense probably damaging 1.00
IGL01458:Akr1c18 APN 13 4,187,143 (GRCm39) missense probably damaging 1.00
R0321:Akr1c18 UTSW 13 4,185,243 (GRCm39) missense probably damaging 1.00
R0514:Akr1c18 UTSW 13 4,187,190 (GRCm39) missense probably benign 0.00
R0653:Akr1c18 UTSW 13 4,195,307 (GRCm39) missense probably damaging 1.00
R1006:Akr1c18 UTSW 13 4,186,654 (GRCm39) missense probably benign 0.00
R1345:Akr1c18 UTSW 13 4,195,213 (GRCm39) missense possibly damaging 0.94
R1656:Akr1c18 UTSW 13 4,195,252 (GRCm39) missense probably benign 0.12
R1887:Akr1c18 UTSW 13 4,193,287 (GRCm39) missense probably benign 0.02
R2015:Akr1c18 UTSW 13 4,195,308 (GRCm39) missense probably damaging 1.00
R3951:Akr1c18 UTSW 13 4,185,284 (GRCm39) missense probably benign 0.06
R4717:Akr1c18 UTSW 13 4,186,717 (GRCm39) missense probably benign 0.00
R5414:Akr1c18 UTSW 13 4,186,734 (GRCm39) missense probably damaging 1.00
R5540:Akr1c18 UTSW 13 4,187,178 (GRCm39) missense probably benign 0.22
R5723:Akr1c18 UTSW 13 4,194,328 (GRCm39) nonsense probably null
R6797:Akr1c18 UTSW 13 4,195,276 (GRCm39) missense probably benign 0.02
R7343:Akr1c18 UTSW 13 4,187,236 (GRCm39) missense probably damaging 0.99
R7741:Akr1c18 UTSW 13 4,194,332 (GRCm39) missense possibly damaging 0.90
R8181:Akr1c18 UTSW 13 4,185,262 (GRCm39) missense probably benign 0.03
R8502:Akr1c18 UTSW 13 4,192,188 (GRCm39) missense probably benign 0.02
R8688:Akr1c18 UTSW 13 4,187,194 (GRCm39) missense possibly damaging 0.73
R9566:Akr1c18 UTSW 13 4,195,203 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GAAAGTTTTGCTCTTAGCCACC -3'
(R):5'- TGCCTAAGGAGAGTACAGGC -3'

Sequencing Primer
(F):5'- TGCTCTTAGCCACCTTAAAAGAAAG -3'
(R):5'- AGAGTACAGGCAGTGTCTATCTC -3'
Posted On 2014-12-04