Incidental Mutation 'R0653:Akr1c18'
ID 62401
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 038838-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0653 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 4182614-4200645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4195307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 50 (D50E)
Ref Sequence ENSEMBL: ENSMUSP00000106332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021635] [ENSMUST00000110704]
AlphaFold Q8K023
Predicted Effect probably damaging
Transcript: ENSMUST00000021635
AA Change: D50E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: D50E

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 4.2e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110704
AA Change: D50E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214
AA Change: D50E

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 275 1.1e-50 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,371 (GRCm39) R612* probably null Het
Adgra1 A G 7: 139,456,063 (GRCm39) T564A probably damaging Het
Atg9a C A 1: 75,166,972 (GRCm39) L26F probably damaging Het
Atp11b A G 3: 35,893,343 (GRCm39) T899A probably damaging Het
Atxn2 A G 5: 121,910,841 (GRCm39) E358G probably damaging Het
Bmp3 A G 5: 99,019,970 (GRCm39) Y131C probably damaging Het
Brip1 T C 11: 86,043,484 (GRCm39) E360G possibly damaging Het
Casd1 A T 6: 4,608,075 (GRCm39) I76L probably benign Het
Casq2 G A 3: 102,020,482 (GRCm39) probably null Het
Ccdc185 T A 1: 182,575,129 (GRCm39) Q520L possibly damaging Het
Cenpf T C 1: 189,392,183 (GRCm39) K550E probably damaging Het
Ciz1 T C 2: 32,262,418 (GRCm39) S521P probably damaging Het
Clstn2 A T 9: 97,340,257 (GRCm39) V705E probably damaging Het
Dagla A G 19: 10,225,789 (GRCm39) Y792H probably damaging Het
Dgke A T 11: 88,950,995 (GRCm39) C73S probably benign Het
Egflam A G 15: 7,279,509 (GRCm39) probably null Het
Farp1 T C 14: 121,471,258 (GRCm39) probably null Het
Fos A G 12: 85,522,790 (GRCm39) E234G probably benign Het
Gtf3c5 A T 2: 28,468,008 (GRCm39) M151K probably benign Het
Hgs G A 11: 120,359,904 (GRCm39) R36H probably damaging Het
Lats2 G A 14: 57,937,653 (GRCm39) Q279* probably null Het
Lysmd4 T A 7: 66,875,788 (GRCm39) D150E probably benign Het
Mex3b A G 7: 82,518,242 (GRCm39) K186E probably damaging Het
Myo9a A C 9: 59,832,274 (GRCm39) Q2601P probably damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nr5a2 A G 1: 136,876,543 (GRCm39) V40A probably benign Het
Obscn C A 11: 58,898,534 (GRCm39) probably benign Het
Or2y1d C A 11: 49,322,078 (GRCm39) Y258* probably null Het
Or4c114 A G 2: 88,904,808 (GRCm39) I209T possibly damaging Het
Or8g4 A G 9: 39,661,934 (GRCm39) N84S probably benign Het
Pclo T A 5: 14,732,269 (GRCm39) probably benign Het
Reln T C 5: 22,118,228 (GRCm39) I2939V probably benign Het
Rtn4 A T 11: 29,657,256 (GRCm39) K470I probably damaging Het
Sbno1 A G 5: 124,524,955 (GRCm39) I1050T possibly damaging Het
Scaf11 G T 15: 96,316,522 (GRCm39) S17* probably null Het
Scn9a A T 2: 66,363,721 (GRCm39) N841K probably damaging Het
Slc35e3 C A 10: 117,576,711 (GRCm39) E207* probably null Het
Slc6a20b A G 9: 123,426,377 (GRCm39) F503L probably damaging Het
Spag16 G T 1: 69,909,504 (GRCm39) K200N probably damaging Het
Supt6 G T 11: 78,116,841 (GRCm39) Q604K probably benign Het
Taok1 A G 11: 77,469,550 (GRCm39) probably null Het
Tjp1 A T 7: 64,964,503 (GRCm39) H889Q probably damaging Het
Tmed6 A T 8: 107,792,283 (GRCm39) probably null Het
Tsen54 A T 11: 115,705,887 (GRCm39) E68V probably damaging Het
Ttn A G 2: 76,559,878 (GRCm39) S21181P probably damaging Het
Ube3d A T 9: 86,334,043 (GRCm39) M33K possibly damaging Het
Umodl1 C A 17: 31,203,002 (GRCm39) Q452K probably benign Het
Wif1 G T 10: 120,935,704 (GRCm39) A354S probably benign Het
Wnk2 A G 13: 49,210,492 (GRCm39) F1788L possibly damaging Het
Zfhx3 A T 8: 109,673,440 (GRCm39) I1497F possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp30 G A 7: 29,492,178 (GRCm39) R225Q probably damaging Het
Zfp87 T C 13: 74,520,190 (GRCm39) E296G probably damaging Het
Zfp874b A G 13: 67,623,052 (GRCm39) F86S possibly damaging Het
Zfyve19 A G 2: 119,041,696 (GRCm39) S88G 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
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
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'- AAGCACAATTCACCAAGTACAGGTTCA -3'
(R):5'- CAGGCAACATCTCTTTACCTGGTCTTT -3'

Sequencing Primer
(F):5'- CCAAGTACAGGTTCAATTACACAGTG -3'
(R):5'- TTAACCAAACTTGGTGGACAAGAC -3'
Posted On 2013-07-30