Incidental Mutation 'R3951:Akr1c18'
ID 307960
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 040828-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R3951 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 4182614-4200645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4185284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 283 (V283I)
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: V283I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: V283I

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 4.2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110704
AA Change: V257I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214
AA Change: V257I

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 275 1.1e-50 PFAM
Meta Mutation Damage Score 0.1292 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (55/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,451,158 (GRCm39) probably benign Het
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Atp2b2 T A 6: 113,737,792 (GRCm39) M861L possibly damaging Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Clspn A G 4: 126,470,172 (GRCm39) E814G probably damaging Het
Csgalnact1 T C 8: 68,913,914 (GRCm39) Q97R probably benign Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Ect2 A T 3: 27,184,269 (GRCm39) D517E probably benign Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fat2 T C 11: 55,187,208 (GRCm39) T1213A probably benign Het
Fkbp8 T A 8: 70,985,311 (GRCm39) L275Q probably damaging Het
Gabrb2 A G 11: 42,517,708 (GRCm39) Y510C probably damaging Het
Gda T C 19: 21,449,809 (GRCm39) T16A probably benign Het
Ggcx G A 6: 72,403,541 (GRCm39) G363R probably benign Het
Gm527 T G 12: 64,970,276 (GRCm39) probably benign Het
Hoxb2 A G 11: 96,244,001 (GRCm39) E204G probably damaging Het
Hsd17b11 G A 5: 104,140,803 (GRCm39) probably benign Het
Kat14 T C 2: 144,249,249 (GRCm39) probably benign Het
Kif16b C T 2: 142,549,279 (GRCm39) V1079I probably benign Het
Klhl29 T A 12: 5,190,660 (GRCm39) S112C probably damaging Het
Lpcat2 G T 8: 93,591,531 (GRCm39) M58I probably benign Het
Lrrc8d G T 5: 105,962,142 (GRCm39) V851F probably benign Het
Ltbp3 T C 19: 5,806,029 (GRCm39) V929A probably damaging Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Map3k9 T C 12: 81,769,295 (GRCm39) M941V probably benign Het
Myom2 A T 8: 15,134,556 (GRCm39) Y453F probably benign Het
Ncapd2 T C 6: 125,163,747 (GRCm39) K78E probably damaging Het
Ncor2 G T 5: 125,109,320 (GRCm39) D1496E possibly damaging Het
Ndnf T C 6: 65,680,125 (GRCm39) Y135H possibly damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Nmur2 G C 11: 55,931,051 (GRCm39) P220R probably damaging Het
Nsd1 G C 13: 55,416,267 (GRCm39) E1438Q probably benign Het
Or5al7 G T 2: 85,992,962 (GRCm39) C110* probably null Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Or8g2 A T 9: 39,822,021 (GRCm39) R307S probably benign Het
Or9s23 T A 1: 92,501,511 (GRCm39) M206K possibly damaging Het
Pom121l2 T G 13: 22,166,298 (GRCm39) S190A probably damaging Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Scarb1 A C 5: 125,364,475 (GRCm39) C85G probably damaging Het
Sh2d4b A G 14: 40,594,503 (GRCm39) I159T probably damaging Het
Skic3 T G 13: 76,278,338 (GRCm39) L551V probably damaging Het
Sntg1 C T 1: 8,853,125 (GRCm39) probably benign Het
Sos1 G A 17: 80,731,610 (GRCm39) T630I probably damaging Het
Spata7 T A 12: 98,635,732 (GRCm39) D517E probably damaging Het
Tcaf1 T C 6: 42,655,993 (GRCm39) T328A probably benign Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Trpc2 T A 7: 101,742,781 (GRCm39) M597K probably damaging Het
Tubb3 C A 8: 124,148,003 (GRCm39) T312N probably damaging Het
Ubr4 G A 4: 139,120,405 (GRCm39) V277M probably damaging Het
Uhrf2 G A 19: 30,057,261 (GRCm39) R473Q probably damaging Het
Vmn2r43 T A 7: 8,258,319 (GRCm39) H298L 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
R2570:Akr1c18 UTSW 13 4,192,163 (GRCm39) missense probably benign 0.04
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'- ACTGGTCTTTGATGTCCTCATATTG -3'
(R):5'- AAGGGTCCTCTTCAAGCCAG -3'

Sequencing Primer
(F):5'- GGTCACTTCTGACAGACA -3'
(R):5'- CTGAGTCCTTTGACCAGGAATG -3'
Posted On 2015-04-17