Incidental Mutation 'R6942:Cyp11b2'
ID 540620
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 045056-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6942 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 74722859-74728167 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 74728094 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 benign
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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.2%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,330,024 (GRCm39) probably null Het
Adap2 A G 11: 80,045,891 (GRCm39) D57G probably benign Het
Atmin G T 8: 117,683,452 (GRCm39) V371F probably benign Het
Cacna1h G T 17: 25,604,013 (GRCm39) A1273E probably benign Het
Cdh23 G A 10: 60,274,635 (GRCm39) T483I possibly damaging Het
Cnot9 T A 1: 74,558,154 (GRCm39) V100E probably damaging Het
Cog2 T A 8: 125,271,875 (GRCm39) V463D probably benign Het
Crybg3 C T 16: 59,360,183 (GRCm39) R2500H possibly damaging Het
Cyp2j12 A T 4: 96,001,101 (GRCm39) probably null Het
Dipk1c A C 18: 84,748,549 (GRCm39) Y49S possibly damaging Het
Dlc1 T C 8: 37,405,364 (GRCm39) K142E probably benign Het
Dpp6 G A 5: 27,674,457 (GRCm39) V140M possibly damaging Het
Fktn G A 4: 53,735,128 (GRCm39) probably null Het
Gas7 A T 11: 67,550,977 (GRCm39) probably null Het
Grin3b T A 10: 79,811,953 (GRCm39) probably null Het
Hhatl G A 9: 121,617,246 (GRCm39) A329V probably benign Het
Homer3 C T 8: 70,744,201 (GRCm39) T276I probably benign Het
Igdcc4 G A 9: 65,027,550 (GRCm39) S204N probably benign Het
Ino80 A G 2: 119,213,983 (GRCm39) F1196L probably damaging Het
Iqsec3 C T 6: 121,450,062 (GRCm39) C154Y probably damaging Het
Kank1 A T 19: 25,401,537 (GRCm39) D1048V possibly damaging Het
Kif2c A G 4: 117,023,575 (GRCm39) L379P probably damaging Het
Kpna6 A T 4: 129,545,514 (GRCm39) probably null Het
Large2 C T 2: 92,201,167 (GRCm39) R28H probably damaging Het
Map4k2 T A 19: 6,396,739 (GRCm39) W552R possibly damaging Het
Mark3 A G 12: 111,559,088 (GRCm39) I43M probably null Het
Med13l C A 5: 118,883,071 (GRCm39) probably null Het
Mtbp T A 15: 55,430,596 (GRCm39) Y218N probably damaging Het
Or52n5 C T 7: 104,588,104 (GRCm39) R124C possibly damaging Het
Pcdhgb5 T C 18: 37,865,696 (GRCm39) L497P probably damaging Het
Pkhd1l1 A G 15: 44,386,025 (GRCm39) T1221A probably damaging Het
Pth1r C T 9: 110,557,084 (GRCm39) probably null Het
Samd8 T C 14: 21,825,221 (GRCm39) I59T possibly damaging Het
Scgb2b18 A G 7: 32,871,564 (GRCm39) V85A possibly damaging Het
Sema6c G T 3: 95,080,519 (GRCm39) V906L probably benign Het
Semp2l2b A T 10: 21,943,160 (GRCm39) D273E probably benign Het
Serpinb9g A T 13: 33,678,888 (GRCm39) T253S probably benign Het
Sipa1l3 T C 7: 29,085,516 (GRCm39) T694A probably damaging Het
Slc8a1 A G 17: 81,715,549 (GRCm39) L828P probably damaging Het
Spry1 T A 3: 37,697,193 (GRCm39) D145E probably benign Het
Stat6 A T 10: 127,487,131 (GRCm39) N213Y probably damaging Het
Tep1 A G 14: 51,074,194 (GRCm39) V1897A possibly damaging Het
Tmem45a T C 16: 56,646,145 (GRCm39) N25S probably benign Het
Tmem70 T A 1: 16,747,380 (GRCm39) Y166N probably damaging Het
Trrap T A 5: 144,720,853 (GRCm39) I230N possibly damaging Het
Ttn A G 2: 76,732,190 (GRCm39) probably benign Het
Unc79 T A 12: 103,088,704 (GRCm39) probably null Het
Vmn1r43 T A 6: 89,847,319 (GRCm39) I56F probably benign Het
Zfyve16 A T 13: 92,653,139 (GRCm39) N815K 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
R5115:Cyp11b2 UTSW 15 74,727,277 (GRCm39) critical splice donor 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
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'- CTGATGCATCTCCAGGTGTAG -3'
(R):5'- CTAACCACTAGCAGGCTGTG -3'

Sequencing Primer
(F):5'- AGGATCTGTATCATCTTCAGCCAC -3'
(R):5'- CAGGCTGTGCAGGTGTTAGAG -3'
Posted On 2018-11-06