Incidental Mutation 'R7143:Cyp21a1'
ID 553581
Institutional Source Beutler Lab
Gene Symbol Cyp21a1
Ensembl Gene ENSMUSG00000024365
Gene Name cytochrome P450, family 21, subfamily a, polypeptide 1
Synonyms Cyp21, 21OHA, Oh21-1, 21-OH, 21-hydroxylase, 21OH, Oh21-1
MMRRC Submission 045222-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R7143 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35020322-35023400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35021300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 357 (H357L)
Ref Sequence ENSEMBL: ENSMUSP00000025223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025223]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025223
AA Change: H357L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025223
Gene: ENSMUSG00000024365
AA Change: H357L

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:p450 29 473 3.9e-98 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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 cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: An 80kb deletion including Cyp21a1 is found in mice with the H2 haplotype aw18. Homozygotes are lethal, but can be rescued with a Cyp21a1 transgene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik C T 7: 103,708,422 (GRCm39) C129Y probably damaging Het
Agbl4 A G 4: 111,474,333 (GRCm39) N374S probably damaging Het
Agl A G 3: 116,585,670 (GRCm39) S153P probably damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Ankrd17 C A 5: 90,433,820 (GRCm39) A650S possibly damaging Het
Ankrd53 A G 6: 83,739,893 (GRCm39) R16G possibly damaging Het
Apba2 T C 7: 64,394,165 (GRCm39) L570P probably damaging Het
Asap1 A G 15: 64,063,377 (GRCm39) F101L probably damaging Het
Cadm4 T A 7: 24,198,992 (GRCm39) I89N possibly damaging Het
Cadps C T 14: 12,491,838 (GRCm38) V771I probably benign Het
Cenph A G 13: 100,898,285 (GRCm39) V206A possibly damaging Het
Cenpn A G 8: 117,663,966 (GRCm39) T253A probably benign Het
Cep120 C T 18: 53,816,457 (GRCm39) G939R probably benign Het
Cfap57 G A 4: 118,477,906 (GRCm39) probably benign Het
Clip1 T C 5: 123,791,673 (GRCm39) I166V probably benign Het
Cstf3 T A 2: 104,476,961 (GRCm39) V144E probably benign Het
Cyth3 T A 5: 143,670,151 (GRCm39) V12E unknown Het
Dgat2 T C 7: 98,806,331 (GRCm39) I289V probably benign Het
Dip2a A G 10: 76,133,625 (GRCm39) C527R probably damaging Het
Dnah17 A C 11: 117,976,956 (GRCm39) W1879G probably damaging Het
Dnai2 A G 11: 114,645,076 (GRCm39) T504A possibly damaging Het
Efl1 C T 7: 82,411,888 (GRCm39) P759L probably damaging Het
Egfr A C 11: 16,821,627 (GRCm39) I351L probably benign Het
Ercc6 G A 14: 32,292,262 (GRCm39) E1209K probably damaging Het
Fam135b A T 15: 71,351,000 (GRCm39) M292K probably benign Het
Fbxl7 C A 15: 26,543,244 (GRCm39) V468L probably benign Het
Fhl2 G T 1: 43,181,011 (GRCm39) H60N probably damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Gata4 C A 14: 63,442,066 (GRCm39) R252L probably damaging Het
Glt8d1 T A 14: 30,728,602 (GRCm39) I10N probably damaging Het
Gm10803 T A 2: 93,394,304 (GRCm39) Y25* probably null Het
Gm19345 T C 7: 19,591,759 (GRCm39) F108S unknown Het
Gm4952 A G 19: 12,595,771 (GRCm39) T54A possibly damaging Het
Gprc6a C T 10: 51,490,986 (GRCm39) R921H probably benign Het
Hc A T 2: 34,940,450 (GRCm39) H129Q probably benign Het
Heatr5a T C 12: 52,008,251 (GRCm39) R31G probably benign Het
Hephl1 T C 9: 14,972,106 (GRCm39) K945E possibly damaging Het
Ik G T 18: 36,884,230 (GRCm39) M237I probably damaging Het
Izumo1 T A 7: 45,276,519 (GRCm39) S361T probably benign Het
Kcnq4 A G 4: 120,568,436 (GRCm39) F427L probably benign Het
Kifap3 T A 1: 163,683,609 (GRCm39) M430K possibly damaging Het
Kifap3 A T 1: 163,653,428 (GRCm39) N338I possibly damaging Het
Lamb3 A G 1: 192,986,873 (GRCm39) E53G probably damaging Het
Lrp1b A T 2: 41,202,655 (GRCm39) I1266K Het
Nat8 A T 6: 85,807,485 (GRCm39) I216K probably benign Het
Ncapd2 T C 6: 125,156,524 (GRCm39) I454V probably benign Het
Nlrp4f A T 13: 65,343,120 (GRCm39) V153E probably damaging Het
Nlrp4f G C 13: 65,347,166 (GRCm39) Q9E possibly damaging Het
Npy2r A T 3: 82,448,250 (GRCm39) I175N probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or1l4b A G 2: 37,036,886 (GRCm39) T221A probably benign Het
Or4a74 T C 2: 89,440,363 (GRCm39) M28V probably benign Het
Or52n3 C T 7: 104,530,393 (GRCm39) P160S probably damaging Het
Pcdh9 T C 14: 94,125,708 (GRCm39) N154S probably damaging Het
Pcdhb2 A T 18: 37,428,934 (GRCm39) E302D probably benign Het
Pclo T A 5: 14,908,836 (GRCm39) V5048E unknown Het
Pcnt A G 10: 76,224,894 (GRCm39) L1870S possibly damaging Het
Pigc T C 1: 161,798,161 (GRCm39) Y48H probably damaging Het
Pisd C T 5: 32,895,846 (GRCm39) V241I possibly damaging Het
Pkhd1l1 A T 15: 44,437,033 (GRCm39) M3464L possibly damaging Het
Pofut2 T A 10: 77,095,260 (GRCm39) I35N probably benign Het
Prss27 A G 17: 24,264,632 (GRCm39) Y265C probably damaging Het
Prss56 T A 1: 87,115,875 (GRCm39) I583K probably benign Het
Rnpep T C 1: 135,211,487 (GRCm39) E87G probably benign Het
Shtn1 T C 19: 59,007,338 (GRCm39) H304R probably damaging Het
Slc23a4 A T 6: 34,955,848 (GRCm39) I62N probably damaging Het
Slc35e2 A T 4: 155,703,051 (GRCm39) I355F probably benign Het
Snx25 T C 8: 46,488,752 (GRCm39) I868V possibly damaging Het
Spatc1l T A 10: 76,405,765 (GRCm39) L323Q probably damaging Het
Speer4a2 T A 5: 26,290,674 (GRCm39) I166F probably benign Het
Taok1 A G 11: 77,428,814 (GRCm39) V962A probably benign Het
Tas2r140 A G 6: 133,032,482 (GRCm39) I92T probably benign Het
Trim17 C A 11: 58,856,010 (GRCm39) Y22* probably null Het
Tti1 T A 2: 157,849,596 (GRCm39) M548L probably benign Het
Unc93b1 T C 19: 3,985,204 (GRCm39) V4A unknown Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Vmn1r225 A T 17: 20,722,646 (GRCm39) Y29F probably benign Het
Vmn1r34 A T 6: 66,614,648 (GRCm39) I30N probably benign Het
Vmn2r67 T A 7: 84,801,846 (GRCm39) M152L probably benign Het
Wdr20rt T G 12: 65,272,692 (GRCm39) F52V probably benign Het
Zfp869 G T 8: 70,159,306 (GRCm39) H422Q probably damaging Het
Other mutations in Cyp21a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Cyp21a1 APN 17 35,023,108 (GRCm39) critical splice acceptor site probably null
IGL01688:Cyp21a1 APN 17 35,021,194 (GRCm39) missense probably damaging 1.00
IGL02352:Cyp21a1 APN 17 35,023,196 (GRCm39) missense probably damaging 1.00
IGL02359:Cyp21a1 APN 17 35,023,196 (GRCm39) missense probably damaging 1.00
IGL02418:Cyp21a1 APN 17 35,023,162 (GRCm39) splice site probably benign
IGL03089:Cyp21a1 APN 17 35,022,420 (GRCm39) splice site probably null
R0480:Cyp21a1 UTSW 17 35,020,800 (GRCm39) missense probably damaging 1.00
R1386:Cyp21a1 UTSW 17 35,021,184 (GRCm39) missense probably damaging 0.98
R1831:Cyp21a1 UTSW 17 35,023,009 (GRCm39) splice site probably benign
R2159:Cyp21a1 UTSW 17 35,021,378 (GRCm39) missense probably benign 0.21
R2209:Cyp21a1 UTSW 17 35,021,701 (GRCm39) nonsense probably null
R4968:Cyp21a1 UTSW 17 35,022,383 (GRCm39) missense possibly damaging 0.93
R5957:Cyp21a1 UTSW 17 35,022,150 (GRCm39) missense probably benign 0.13
R6374:Cyp21a1 UTSW 17 35,023,110 (GRCm39) splice site probably null
R7077:Cyp21a1 UTSW 17 35,021,333 (GRCm39) missense probably damaging 1.00
R7798:Cyp21a1 UTSW 17 35,023,295 (GRCm39) missense probably benign 0.30
R8192:Cyp21a1 UTSW 17 35,022,633 (GRCm39) missense probably damaging 1.00
R8359:Cyp21a1 UTSW 17 35,021,105 (GRCm39) critical splice donor site probably null
R8460:Cyp21a1 UTSW 17 35,021,844 (GRCm39) missense probably benign 0.01
R8933:Cyp21a1 UTSW 17 35,023,285 (GRCm39) missense probably damaging 1.00
R9133:Cyp21a1 UTSW 17 35,023,419 (GRCm39) start gained probably benign
R9408:Cyp21a1 UTSW 17 35,020,860 (GRCm39) missense probably damaging 1.00
R9561:Cyp21a1 UTSW 17 35,021,652 (GRCm39) missense possibly damaging 0.91
R9583:Cyp21a1 UTSW 17 35,022,017 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTTTGTCCCAGCAGAGG -3'
(R):5'- AAGTCTGGTCCCTAGAGCTC -3'

Sequencing Primer
(F):5'- ATACCTGGCCAGAACTTGCTG -3'
(R):5'- GTCCCTAGAGCTCAGCCTTG -3'
Posted On 2019-05-15