Incidental Mutation 'R5414:Akr1c18'
ID 427655
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 042983-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5414 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 4182614-4200645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4186734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 238 (D238V)
Ref Sequence ENSEMBL: ENSMUSP00000021635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021635] [ENSMUST00000110704]
AlphaFold Q8K023
Predicted Effect probably damaging
Transcript: ENSMUST00000021635
AA Change: D238V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021635
Gene: ENSMUSG00000021214
AA Change: D238V

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 4.2e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110704
AA Change: D212V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106332
Gene: ENSMUSG00000021214
AA Change: D212V

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 275 1.1e-50 PFAM
Meta Mutation Damage Score 0.5386 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,205,448 (GRCm39) S278P probably damaging Het
Acan A G 7: 78,750,736 (GRCm39) T1836A probably benign Het
Akt3 A G 1: 176,877,817 (GRCm39) V317A probably damaging Het
Atp2b2 G A 6: 113,819,102 (GRCm39) P64S probably damaging Het
Atr A G 9: 95,752,757 (GRCm39) N609S probably benign Het
Bcat1 A G 6: 144,961,173 (GRCm39) probably null Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Cd34 A G 1: 194,630,219 (GRCm39) E51G probably benign Het
Celsr3 A G 9: 108,717,241 (GRCm39) E2161G possibly damaging Het
Clec2h G T 6: 128,651,749 (GRCm39) A153S probably benign Het
Cnih1 T C 14: 47,016,440 (GRCm39) T105A probably benign Het
Coro1c A G 5: 113,986,607 (GRCm39) I279T possibly damaging Het
Ddx11 A G 17: 66,455,763 (GRCm39) T721A probably benign Het
Fbn2 C A 18: 58,226,477 (GRCm39) A766S probably damaging Het
Focad C T 4: 88,328,939 (GRCm39) probably benign Het
Galnt16 A T 12: 80,630,822 (GRCm39) D300V probably damaging Het
Gbp2b T C 3: 142,304,852 (GRCm39) L96P probably damaging Het
Gm10192 T C 4: 97,071,346 (GRCm39) S20G probably null Het
Gm10288 T C 3: 146,544,717 (GRCm39) noncoding transcript Het
Gm4181 C T 14: 51,873,047 (GRCm39) probably null Het
Gm6327 T A 16: 12,578,222 (GRCm39) noncoding transcript Het
Hfm1 A G 5: 107,049,942 (GRCm39) I409T probably damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Ifit1bl1 T A 19: 34,571,324 (GRCm39) I378F probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Krt33b T C 11: 99,920,612 (GRCm39) T14A probably benign Het
Lrch3 T A 16: 32,806,335 (GRCm39) probably null Het
Mycbp2 A T 14: 103,543,697 (GRCm39) L226H probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nploc4 A T 11: 120,304,469 (GRCm39) Y251N probably damaging Het
Or4b12 T C 2: 90,096,046 (GRCm39) T243A probably benign Het
Pdk4 T C 6: 5,485,499 (GRCm39) I397V probably benign Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pgm5 A G 19: 24,686,689 (GRCm39) I506T probably damaging Het
Pgs1 T G 11: 117,905,502 (GRCm39) I499S probably damaging Het
Ppp6r3 A G 19: 3,557,330 (GRCm39) S253P probably damaging Het
Prag1 C G 8: 36,606,776 (GRCm39) P839R probably benign Het
Rin3 C T 12: 102,356,116 (GRCm39) Q806* probably null Het
Ros1 T C 10: 52,031,189 (GRCm39) D484G probably damaging Het
Scamp5 A G 9: 57,354,507 (GRCm39) V49A probably benign Het
Sis C A 3: 72,859,826 (GRCm39) V310L probably benign Het
Svep1 T C 4: 58,206,322 (GRCm39) T19A possibly damaging Het
Tcstv2b A C 13: 120,373,872 (GRCm39) D139E probably damaging Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Thra A G 11: 98,651,783 (GRCm39) I102V probably benign Het
Trim30a A C 7: 104,060,348 (GRCm39) V476G probably damaging Het
Vmn2r3 T A 3: 64,166,978 (GRCm39) R718* probably null Het
Washc4 A G 10: 83,391,967 (GRCm39) T218A possibly damaging Het
Xrcc1 A G 7: 24,269,643 (GRCm39) Y401C probably damaging Het
Zfp629 T C 7: 127,210,454 (GRCm39) T452A probably damaging 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
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
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'- TGAACCTAGACCTGCTGTGC -3'
(R):5'- AATTCCTGGACTCTTGTGGCC -3'

Sequencing Primer
(F):5'- TAGACCTGCTGTGCTGAGC -3'
(R):5'- TGCTCAATTGTGGCACGC -3'
Posted On 2016-09-01