Incidental Mutation 'R1423:Cyp11b2'
ID 161187
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 039479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R1423 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 74722859-74728167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74724979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 290 (G290V)
Ref Sequence ENSEMBL: ENSMUSP00000131503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167634]
AlphaFold P15539
Predicted Effect probably damaging
Transcript: ENSMUST00000167634
AA Change: G290V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589
AA Change: G290V

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:p450 44 498 1e-115 PFAM
Meta Mutation Damage Score 0.9076 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d A G 19: 4,331,097 (GRCm39) S64P probably damaging Het
Armh4 T C 14: 49,988,896 (GRCm39) E691G probably damaging Het
Bag4 T C 8: 26,258,302 (GRCm39) S342G probably damaging Het
Bbs1 G A 19: 4,944,291 (GRCm39) T446I probably benign Het
Bmyc A G 2: 25,597,236 (GRCm39) D100G probably damaging Het
Btbd7 T C 12: 102,751,734 (GRCm39) D1010G possibly damaging Het
Celsr3 A T 9: 108,704,104 (GRCm39) T196S probably benign Het
Crtam C A 9: 40,884,918 (GRCm39) R161L probably benign Het
Edc4 C T 8: 106,617,843 (GRCm39) probably benign Het
Exd1 A T 2: 119,370,494 (GRCm39) probably benign Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fbxo16 T C 14: 65,524,623 (GRCm39) probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gabrb2 A G 11: 42,420,298 (GRCm39) N173S probably damaging Het
Gm13741 A T 2: 87,486,674 (GRCm39) I197K possibly damaging Het
Helb T A 10: 119,944,871 (GRCm39) I222F probably damaging Het
Hesx1 A T 14: 26,723,876 (GRCm39) Q153L probably null Het
Isca1 T C 13: 59,910,593 (GRCm39) N33S probably benign Het
Itsn2 T C 12: 4,723,572 (GRCm39) V1142A probably damaging Het
Lama5 T G 2: 179,837,434 (GRCm39) T984P probably damaging Het
Lima1 T A 15: 99,717,626 (GRCm39) K127* probably null Het
Lmbrd1 T A 1: 24,785,959 (GRCm39) V418D probably damaging Het
Mertk T C 2: 128,620,883 (GRCm39) V575A probably damaging Het
Mrps28 T C 3: 8,965,184 (GRCm39) H85R probably benign Het
Mrtfb T C 16: 13,230,105 (GRCm39) V930A possibly damaging Het
Naip2 G A 13: 100,291,386 (GRCm39) T1184M probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Naip2 TCCC TCC 13: 100,291,355 (GRCm39) probably benign Het
Naip2 G A 13: 100,291,380 (GRCm39) S1186F possibly damaging Het
Nhlrc3 A T 3: 53,369,836 (GRCm39) L45H probably damaging Het
Or52e5 T G 7: 104,719,226 (GRCm39) M184R probably damaging Het
Or52u1 C T 7: 104,237,682 (GRCm39) R224* probably null Het
Or8s16 T C 15: 98,211,324 (GRCm39) T36A probably damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdhb15 A T 18: 37,606,975 (GRCm39) D69V probably damaging Het
Pitpnm1 G A 19: 4,162,392 (GRCm39) R1074H probably damaging Het
Plb1 A G 5: 32,450,601 (GRCm39) N381D probably benign Het
Poc1b T C 10: 98,988,725 (GRCm39) S247P probably damaging Het
Prl7b1 T A 13: 27,786,110 (GRCm39) N186I probably damaging Het
Riok1 T C 13: 38,233,090 (GRCm39) M241T probably damaging Het
Tigit T C 16: 43,469,395 (GRCm39) E232G probably benign Het
Tpst2 T A 5: 112,455,488 (GRCm39) L9Q probably benign Het
Ttbk1 T C 17: 46,757,080 (GRCm39) probably benign Het
Vmn1r3 A T 4: 3,185,231 (GRCm39) N25K probably damaging Het
Vmn2r121 T A X: 123,039,602 (GRCm39) H522L possibly damaging Het
Vmn2r15 T C 5: 109,441,093 (GRCm39) Y255C probably damaging 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
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
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'- TGGCACACCTCTAGGTACAGTCTTC -3'
(R):5'- CTCAAATGATGGCAACCACTGCTTC -3'

Sequencing Primer
(F):5'- CCTCTAGGTACAGTCTTCAATCAAAG -3'
(R):5'- CCTATGACTGAAAGGACCTAGTGAC -3'
Posted On 2014-03-14