Incidental Mutation 'R8391:Akr1c21'
ID 647394
Institutional Source Beutler Lab
Gene Symbol Akr1c21
Ensembl Gene ENSMUSG00000021207
Gene Name aldo-keto reductase family 1, member C21
Synonyms 9430025F20Rik
MMRRC Submission 067756-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R8391 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 4624074-4636540 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4626278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 101 (R101W)
Ref Sequence ENSEMBL: ENSMUSP00000021628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021628] [ENSMUST00000223285]
AlphaFold Q91WR5
PDB Structure Crystal structure of 17alpha-hydroxysteroid dehydrogenase in binary complex with NADP(H) in an open conformation [X-RAY DIFFRACTION]
Crystal structure of 17alpha-hydroxysteroid dehydrogenase in its apo-form [X-RAY DIFFRACTION]
Crystal structure of 17alpha-hydroxysteroid dehydrogenase in complex with NADP(H) in a closed conformation [X-RAY DIFFRACTION]
Crystal structure of 17alpha-hydroxysteroid dehydrogenase in complex with NADP+ and epi-testosterone [X-RAY DIFFRACTION]
Crystal structure of 17alpha-hydroxysteroid dehydrogenase mutant K31A in complex with NADP+ and epi-testosterone [X-RAY DIFFRACTION]
Crystal structure of mouse 17-alpha hydroxysteroid dehydrogenase in complex with coenzyme NADPH [X-RAY DIFFRACTION]
The crystal structure of mouse 17-alpha hydroxysteroid dehydrogenase GG225.226PP mutant in complex with inhibitor and cofactor NADP+. [X-RAY DIFFRACTION]
The crystal structure of 17-alpha hydroxysteroid dehydrogenase Y224D mutant. [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000021628
AA Change: R101W

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: R101W

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 2.2e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000223285
AA Change: R101W

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,368,968 (GRCm39) S155P possibly damaging Het
Angpt1 T A 15: 42,375,794 (GRCm39) N154I probably damaging Het
Aoc1l2 T C 6: 48,909,602 (GRCm39) W616R probably damaging Het
Atp2a1 T A 7: 126,047,888 (GRCm39) I641F possibly damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bltp3b T C 10: 89,645,605 (GRCm39) V1226A possibly damaging Het
Cacna1b G A 2: 24,596,212 (GRCm39) A493V probably damaging Het
Cacna1h G A 17: 25,596,204 (GRCm39) A1939V probably benign Het
Cacna2d4 A G 6: 119,325,706 (GRCm39) I1027V probably benign Het
Cbln3 G A 14: 56,120,523 (GRCm39) R170C probably damaging Het
Cemip T C 7: 83,604,517 (GRCm39) S842G probably damaging Het
Cep164 T A 9: 45,718,491 (GRCm39) Q284L unknown Het
Crybg2 T C 4: 133,803,035 (GRCm39) F889L probably damaging Het
Fhip1a T C 3: 85,595,788 (GRCm39) N366D probably damaging Het
Gars1 T A 6: 55,025,127 (GRCm39) Y124N probably damaging Het
Gbp2b T C 3: 142,309,894 (GRCm39) F228S probably damaging Het
Gm5565 C A 5: 146,096,962 (GRCm39) R59L probably benign Het
Gm8947 A T 1: 151,068,737 (GRCm39) D190V probably benign Het
Grid2ip T C 5: 143,365,951 (GRCm39) M543T probably damaging Het
Gucy2c A G 6: 136,681,213 (GRCm39) L957P probably damaging Het
Hint1 T C 11: 54,757,368 (GRCm39) I18T possibly damaging Het
Il23r T C 6: 67,429,374 (GRCm39) S323G probably benign Het
Iqcf3 T G 9: 106,438,175 (GRCm39) E16A unknown Het
Kcnj1 A T 9: 32,308,028 (GRCm39) T151S probably damaging Het
Kdm1a G T 4: 136,281,154 (GRCm39) T685K probably benign Het
Lipo4 T A 19: 33,488,965 (GRCm39) H206L probably benign Het
Lrp5 A G 19: 3,654,185 (GRCm39) Y1081H probably damaging Het
Masp1 A T 16: 23,289,128 (GRCm39) H557Q possibly damaging Het
Nhsl1 C T 10: 18,400,691 (GRCm39) T605I possibly damaging Het
Or1af1 T A 2: 37,110,277 (GRCm39) Y259N probably damaging Het
Or1j21 C T 2: 36,684,096 (GRCm39) P283S probably damaging Het
Pkmyt1 C T 17: 23,954,013 (GRCm39) R307C probably damaging Het
Plppr4 T C 3: 117,129,060 (GRCm39) I136V probably benign Het
Ppp1r12c A C 7: 4,500,431 (GRCm39) Y150D probably damaging Het
Qrich2 C G 11: 116,356,403 (GRCm39) V149L probably benign Het
R3hdm1 T C 1: 128,121,215 (GRCm39) F176L Het
Ric8a T A 7: 140,437,916 (GRCm39) S52T probably benign Het
Romo1 G T 2: 155,986,340 (GRCm39) probably benign Het
Rps6ka1 G A 4: 133,591,346 (GRCm39) H318Y probably damaging Het
Slc43a3 A G 2: 84,768,151 (GRCm39) N41S probably benign Het
Srrm4 T G 5: 116,582,755 (GRCm39) T567P unknown Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
St6galnac4 G T 2: 32,484,086 (GRCm39) D95Y probably damaging Het
Sult2a6 T C 7: 13,956,516 (GRCm39) probably null Het
Synj2 A G 17: 5,991,796 (GRCm39) E24G probably damaging Het
Try10 T G 6: 41,334,306 (GRCm39) L166R probably damaging Het
Ttn A G 2: 76,562,544 (GRCm39) V28767A probably damaging Het
Ttn T A 2: 76,604,822 (GRCm39) I18371F probably damaging Het
Zc3h13 T A 14: 75,568,625 (GRCm39) L1306Q probably damaging Het
Zp2 T A 7: 119,726,179 (GRCm39) T674S probably benign Het
Zscan4-ps3 A G 7: 11,346,801 (GRCm39) Y279C probably benign Het
Other mutations in Akr1c21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Akr1c21 APN 13 4,626,312 (GRCm39) missense probably damaging 1.00
IGL01093:Akr1c21 APN 13 4,631,139 (GRCm39) splice site probably benign
IGL01408:Akr1c21 APN 13 4,627,431 (GRCm39) missense probably benign
IGL02470:Akr1c21 APN 13 4,627,406 (GRCm39) missense probably damaging 1.00
IGL02683:Akr1c21 APN 13 4,626,312 (GRCm39) missense probably damaging 1.00
IGL02738:Akr1c21 APN 13 4,630,300 (GRCm39) missense probably damaging 1.00
IGL03126:Akr1c21 APN 13 4,627,457 (GRCm39) missense possibly damaging 0.76
IGL03365:Akr1c21 APN 13 4,633,851 (GRCm39) missense probably benign 0.00
R0166:Akr1c21 UTSW 13 4,631,263 (GRCm39) missense probably damaging 1.00
R0391:Akr1c21 UTSW 13 4,631,199 (GRCm39) missense probably damaging 1.00
R0505:Akr1c21 UTSW 13 4,626,306 (GRCm39) missense probably damaging 1.00
R1069:Akr1c21 UTSW 13 4,625,333 (GRCm39) splice site probably benign
R1168:Akr1c21 UTSW 13 4,633,836 (GRCm39) missense probably benign 0.04
R1617:Akr1c21 UTSW 13 4,626,351 (GRCm39) splice site probably null
R1686:Akr1c21 UTSW 13 4,627,452 (GRCm39) missense probably damaging 1.00
R1694:Akr1c21 UTSW 13 4,625,177 (GRCm39) missense probably damaging 0.98
R1753:Akr1c21 UTSW 13 4,627,134 (GRCm39) nonsense probably null
R1977:Akr1c21 UTSW 13 4,624,211 (GRCm39) missense probably damaging 1.00
R2005:Akr1c21 UTSW 13 4,624,214 (GRCm39) missense probably damaging 1.00
R2036:Akr1c21 UTSW 13 4,626,305 (GRCm39) missense probably damaging 0.98
R2198:Akr1c21 UTSW 13 4,627,464 (GRCm39) missense probably damaging 1.00
R2925:Akr1c21 UTSW 13 4,626,349 (GRCm39) splice site probably null
R4965:Akr1c21 UTSW 13 4,630,304 (GRCm39) missense probably damaging 1.00
R6245:Akr1c21 UTSW 13 4,625,231 (GRCm39) missense possibly damaging 0.93
R6381:Akr1c21 UTSW 13 4,624,183 (GRCm39) missense probably damaging 1.00
R6711:Akr1c21 UTSW 13 4,627,374 (GRCm39) missense probably damaging 1.00
R6843:Akr1c21 UTSW 13 4,625,213 (GRCm39) missense probably damaging 1.00
R6998:Akr1c21 UTSW 13 4,633,850 (GRCm39) missense probably benign 0.05
R7253:Akr1c21 UTSW 13 4,627,139 (GRCm39) missense probably damaging 1.00
R7475:Akr1c21 UTSW 13 4,626,318 (GRCm39) missense probably benign 0.09
R8389:Akr1c21 UTSW 13 4,626,278 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGAATATTCCCCTGTGCACATC -3'
(R):5'- ACACCCTTCAGTGGTAGGATTC -3'

Sequencing Primer
(F):5'- CCTGTGCACATCAATTTCAAATCAG -3'
(R):5'- TGTTAAGATCTGAGCCTCAGCAG -3'
Posted On 2020-09-02