Incidental Mutation 'IGL03237:Cyp11b2'
ID414094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp11b2
Ensembl Gene ENSMUSG00000022589
Gene Namecytochrome P450, family 11, subfamily b, polypeptide 2
SynonymsCyp11b-2, Cyp11b, aldosterone synthase, steroid-11-beta-hydroxylase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL03237
Quality Score
Status
Chromosome15
Chromosomal Location74851010-74856318 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 74851065 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 495 (V495I)
Ref Sequence ENSEMBL: ENSMUSP00000131503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167634]
Predicted Effect probably benign
Transcript: ENSMUST00000167634
AA Change: V495I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589
AA Change: V495I

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:p450 44 498 1e-115 PFAM
Coding Region Coverage
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign Het
Other mutations in Cyp11b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Cyp11b2 APN 15 74853515 missense probably benign 0.00
IGL02058:Cyp11b2 APN 15 74853189 missense probably benign 0.30
IGL02419:Cyp11b2 APN 15 74851055 missense probably damaging 1.00
IGL03094:Cyp11b2 APN 15 74853037 critical splice donor site probably null
Spargel UTSW 15 74851432 missense probably damaging 1.00
stickfigure UTSW 15 74851570 missense possibly damaging 0.46
Stringbean UTSW 15 74853130 missense probably damaging 1.00
veronica UTSW 15 74853991 missense probably damaging 1.00
PIT4243001:Cyp11b2 UTSW 15 74851453 missense probably damaging 1.00
R0522:Cyp11b2 UTSW 15 74851684 splice site probably benign
R0674:Cyp11b2 UTSW 15 74855544 missense probably damaging 1.00
R0837:Cyp11b2 UTSW 15 74853641 missense probably damaging 1.00
R1386:Cyp11b2 UTSW 15 74851775 critical splice acceptor site probably null
R1423:Cyp11b2 UTSW 15 74853130 missense probably damaging 1.00
R1550:Cyp11b2 UTSW 15 74853593 missense probably benign 0.07
R3437:Cyp11b2 UTSW 15 74855449 missense probably benign
R3693:Cyp11b2 UTSW 15 74856008 missense probably benign 0.00
R4447:Cyp11b2 UTSW 15 74855563 missense probably benign 0.00
R4870:Cyp11b2 UTSW 15 74853146 missense probably benign 0.00
R4947:Cyp11b2 UTSW 15 74851570 missense possibly damaging 0.46
R4968:Cyp11b2 UTSW 15 74854005 splice site probably null
R5115:Cyp11b2 UTSW 15 74855428 critical splice donor site probably null
R5775:Cyp11b2 UTSW 15 74853478 missense probably benign 0.02
R6738:Cyp11b2 UTSW 15 74853514 missense possibly damaging 0.65
R6841:Cyp11b2 UTSW 15 74855491 missense probably benign 0.00
R6942:Cyp11b2 UTSW 15 74856245 start gained probably benign
R6997:Cyp11b2 UTSW 15 74851432 missense probably damaging 1.00
R7094:Cyp11b2 UTSW 15 74853658 missense possibly damaging 0.94
R7096:Cyp11b2 UTSW 15 74855988 missense probably damaging 0.98
R7275:Cyp11b2 UTSW 15 74853991 missense probably damaging 1.00
R7456:Cyp11b2 UTSW 15 74853530 missense probably benign 0.01
R7604:Cyp11b2 UTSW 15 74853750 splice site probably null
R8002:Cyp11b2 UTSW 15 74856032 missense probably damaging 1.00
R8222:Cyp11b2 UTSW 15 74856210 missense probably benign 0.03
R8346:Cyp11b2 UTSW 15 74851768 missense probably damaging 1.00
R8349:Cyp11b2 UTSW 15 74851579 missense possibly damaging 0.94
R8449:Cyp11b2 UTSW 15 74851579 missense possibly damaging 0.94
Posted On2016-08-02