Incidental Mutation 'R5115:Cyp11b2'
ID 394163
Institutional Source Beutler Lab
Gene Symbol Cyp11b2
Ensembl Gene ENSMUSG00000022589
Gene Name cytochrome P450, family 11, subfamily b, polypeptide 2
Synonyms steroid-11-beta-hydroxylase, aldosterone synthase, Cyp11b, Cyp11b-2
MMRRC Submission 042703-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5115 (G1)
Quality Score 178
Status Validated
Chromosome 15
Chromosomal Location 74722859-74728167 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 74727277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167634]
AlphaFold P15539
Predicted Effect probably null
Transcript: ENSMUST00000167634
SMART Domains Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:p450 44 498 1e-115 PFAM
Meta Mutation Damage Score 0.9480 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.2%
Validation Efficiency 100% (47/47)
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 mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some postnatal lethality, altered blood chemistry, hypotension, and abnormal adrenal cortex morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 C T 11: 54,231,324 (GRCm39) probably null Het
Asic1 C T 15: 99,569,933 (GRCm39) L85F probably damaging Het
Atic G A 1: 71,596,434 (GRCm39) probably null Het
Atp1b2 T C 11: 69,494,299 (GRCm39) T65A probably damaging Het
C2cd6 T A 1: 59,090,420 (GRCm39) I446L probably benign Het
Cep83 A G 10: 94,604,751 (GRCm39) H488R probably benign Het
Cwc15 A G 9: 14,419,192 (GRCm39) I163V probably benign Het
Fat2 A G 11: 55,187,159 (GRCm39) V1229A probably damaging Het
Fbn1 T C 2: 125,174,303 (GRCm39) D1851G probably damaging Het
Golga7 A T 8: 23,735,986 (GRCm39) probably null Het
Gsdmc2 A T 15: 63,699,617 (GRCm39) H270Q probably benign Het
Kdm4a G T 4: 118,019,778 (GRCm39) P326Q possibly damaging Het
Kng1 G A 16: 22,888,032 (GRCm39) R209H possibly damaging Het
Mfn1 T C 3: 32,618,456 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Nlrc5 G A 8: 95,203,447 (GRCm39) V516I possibly damaging Het
Nrbp1 T G 5: 31,401,059 (GRCm39) Y96* probably null Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pikfyve T C 1: 65,263,276 (GRCm39) probably benign Het
Plin1 AGGCCACCAGGGGGTGGGC AGGC 7: 79,379,692 (GRCm39) probably benign Het
Prkdc A G 16: 15,608,444 (GRCm39) Q3082R probably benign Het
Rbfox1 A G 16: 7,227,636 (GRCm39) S405G probably damaging Het
Recql T C 6: 142,304,285 (GRCm39) probably benign Het
Serpina3c T C 12: 104,113,651 (GRCm39) E365G probably damaging Het
Slc17a5 A G 9: 78,484,394 (GRCm39) V122A probably benign Het
Sprr2b G T 3: 92,224,862 (GRCm39) C36F unknown Het
Stk36 T C 1: 74,674,986 (GRCm39) I1307T probably damaging Het
Tmc6 G A 11: 117,666,014 (GRCm39) T300I probably damaging Het
Ttll9 C A 2: 152,831,510 (GRCm39) probably benign Het
Vmn1r71 T A 7: 10,481,885 (GRCm39) M202L probably benign Het
Zfp276 A G 8: 123,991,716 (GRCm39) probably benign Het
Other mutations in Cyp11b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Cyp11b2 APN 15 74,725,364 (GRCm39) missense probably benign 0.00
IGL02058:Cyp11b2 APN 15 74,725,038 (GRCm39) missense probably benign 0.30
IGL02419:Cyp11b2 APN 15 74,722,904 (GRCm39) missense probably damaging 1.00
IGL03094:Cyp11b2 APN 15 74,724,886 (GRCm39) critical splice donor site probably null
IGL03237:Cyp11b2 APN 15 74,722,914 (GRCm39) missense probably benign 0.00
Spargel UTSW 15 74,723,281 (GRCm39) missense probably damaging 1.00
stickfigure UTSW 15 74,723,419 (GRCm39) missense possibly damaging 0.46
Stringbean UTSW 15 74,724,979 (GRCm39) missense probably damaging 1.00
veronica UTSW 15 74,725,840 (GRCm39) missense probably damaging 1.00
PIT4243001:Cyp11b2 UTSW 15 74,723,302 (GRCm39) missense probably damaging 1.00
R0522:Cyp11b2 UTSW 15 74,723,533 (GRCm39) splice site probably benign
R0674:Cyp11b2 UTSW 15 74,727,393 (GRCm39) missense probably damaging 1.00
R0837:Cyp11b2 UTSW 15 74,725,490 (GRCm39) missense probably damaging 1.00
R1386:Cyp11b2 UTSW 15 74,723,624 (GRCm39) critical splice acceptor site probably null
R1423:Cyp11b2 UTSW 15 74,724,979 (GRCm39) missense probably damaging 1.00
R1550:Cyp11b2 UTSW 15 74,725,442 (GRCm39) missense probably benign 0.07
R3437:Cyp11b2 UTSW 15 74,727,298 (GRCm39) missense probably benign
R3693:Cyp11b2 UTSW 15 74,727,857 (GRCm39) missense probably benign 0.00
R4447:Cyp11b2 UTSW 15 74,727,412 (GRCm39) missense probably benign 0.00
R4870:Cyp11b2 UTSW 15 74,724,995 (GRCm39) missense probably benign 0.00
R4947:Cyp11b2 UTSW 15 74,723,419 (GRCm39) missense possibly damaging 0.46
R4968:Cyp11b2 UTSW 15 74,725,854 (GRCm39) splice site probably null
R5775:Cyp11b2 UTSW 15 74,725,327 (GRCm39) missense probably benign 0.02
R6738:Cyp11b2 UTSW 15 74,725,363 (GRCm39) missense possibly damaging 0.65
R6841:Cyp11b2 UTSW 15 74,727,340 (GRCm39) missense probably benign 0.00
R6942:Cyp11b2 UTSW 15 74,728,094 (GRCm39) start gained probably benign
R6997:Cyp11b2 UTSW 15 74,723,281 (GRCm39) missense probably damaging 1.00
R7094:Cyp11b2 UTSW 15 74,725,507 (GRCm39) missense possibly damaging 0.94
R7096:Cyp11b2 UTSW 15 74,727,837 (GRCm39) missense probably damaging 0.98
R7275:Cyp11b2 UTSW 15 74,725,840 (GRCm39) missense probably damaging 1.00
R7456:Cyp11b2 UTSW 15 74,725,379 (GRCm39) missense probably benign 0.01
R7604:Cyp11b2 UTSW 15 74,725,599 (GRCm39) splice site probably null
R8002:Cyp11b2 UTSW 15 74,727,881 (GRCm39) missense probably damaging 1.00
R8222:Cyp11b2 UTSW 15 74,728,059 (GRCm39) missense probably benign 0.03
R8346:Cyp11b2 UTSW 15 74,723,617 (GRCm39) missense probably damaging 1.00
R8349:Cyp11b2 UTSW 15 74,723,428 (GRCm39) missense possibly damaging 0.94
R8449:Cyp11b2 UTSW 15 74,723,428 (GRCm39) missense possibly damaging 0.94
R8537:Cyp11b2 UTSW 15 74,728,016 (GRCm39) missense probably benign 0.01
R8785:Cyp11b2 UTSW 15 74,723,961 (GRCm39) missense probably benign 0.44
R8824:Cyp11b2 UTSW 15 74,727,914 (GRCm39) missense probably damaging 1.00
R9072:Cyp11b2 UTSW 15 74,725,662 (GRCm39) missense possibly damaging 0.56
R9100:Cyp11b2 UTSW 15 74,722,995 (GRCm39) missense probably damaging 0.99
R9501:Cyp11b2 UTSW 15 74,722,961 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTAGAAAAGCGTATTTGCAGC -3'
(R):5'- ATTCCACTTACAGCAGGGCTC -3'

Sequencing Primer
(F):5'- CAGCAGCTTGGGGCAAG -3'
(R):5'- TACAGCAGGGCTCTGTGCTTC -3'
Posted On 2016-06-15