Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02419:Cyp11b2'

292595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp11b2

Ensembl Gene

ENSMUSG00000022589

Gene Name

cytochrome P450, family 11, subfamily b, polypeptide 2

Synonyms

Cyp11b-2, Cyp11b, aldosterone synthase, steroid-11-beta-hydroxylase

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

74851010-74856318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74851055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 498 (F498Y)

Ref Sequence

ENSEMBL: ENSMUSP00000131503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167634]

AlphaFold

P15539

Predicted Effect

probably damaging
Transcript: ENSMUST00000167634
AA Change: F498Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589
AA Change: F498Y

Domain	Start	End	E-Value	Type
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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Adcy2	A	G	13: 68,982,363	V135A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Dnpep	A	G	1: 75,315,688	I162T	probably damaging	Het
Efcab9	T	C	11: 32,522,950	I166V	probably benign	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Klhl24	T	A	16: 20,107,368	Y215*	probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mical1	A	G	10: 41,482,277	K429E	possibly damaging	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Pex6	C	A	17: 46,724,435	T840N	possibly damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Wwp2	T	A	8: 107,549,815	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,119,788	T428A	probably benign	Het
Zfp592	A	G	7: 81,038,245	E973G	probably damaging	Het

Other mutations in Cyp11b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Cyp11b2	APN	15	74853515	missense	probably benign	0.00
IGL02058:Cyp11b2	APN	15	74853189	missense	probably benign	0.30
IGL03094:Cyp11b2	APN	15	74853037	critical splice donor site	probably null
IGL03237:Cyp11b2	APN	15	74851065	missense	probably benign	0.00
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
R8537:Cyp11b2	UTSW	15	74856167	missense	probably benign	0.01
R8785:Cyp11b2	UTSW	15	74852112	missense	probably benign	0.44
R8824:Cyp11b2	UTSW	15	74856065	missense	probably damaging	1.00
R9072:Cyp11b2	UTSW	15	74853813	missense	possibly damaging	0.56
R9100:Cyp11b2	UTSW	15	74851146	missense	probably damaging	0.99
R9501:Cyp11b2	UTSW	15	74851112	missense	probably damaging	1.00

Posted On

2015-04-16