Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Cyp11b2'

48656

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

038715-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74722859-74728167 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 74723533 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

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
Pfam:p450	44	498	1e-115	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	A	G	8: 84,456,805 (GRCm39)	I192T	probably benign	Het
Adgrl3	T	C	5: 81,874,648 (GRCm39)	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,676,561 (GRCm39)		probably benign	Het
Alms1	T	C	6: 85,598,597 (GRCm39)	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,472,189 (GRCm39)		probably benign	Het
C2cd3	A	G	7: 100,044,429 (GRCm39)	N337S	probably benign	Het
Cdc40	T	C	10: 40,733,608 (GRCm39)	Y114C	probably benign	Het
Cdhr1	A	T	14: 36,815,957 (GRCm39)		probably null	Het
Cfc1	G	A	1: 34,576,234 (GRCm39)	C98Y	probably damaging	Het
Cyth4	C	A	15: 78,499,985 (GRCm39)	H255Q	possibly damaging	Het
Degs1l	A	C	1: 180,887,312 (GRCm39)	D299A	probably damaging	Het
Dip2a	T	C	10: 76,157,365 (GRCm39)	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083 (GRCm39)	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,438,565 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,458,430 (GRCm39)	V81E	probably damaging	Het
F5	T	C	1: 164,039,332 (GRCm39)	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,178,400 (GRCm39)	M309L	probably benign	Het
Gm14221	G	A	2: 160,416,597 (GRCm39)		noncoding transcript	Het
Gnptab	T	A	10: 88,267,328 (GRCm39)		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,735,567 (GRCm39)		probably null	Het
Gpr176	A	G	2: 118,114,493 (GRCm39)	C106R	probably damaging	Het
Hdac7	A	T	15: 97,704,560 (GRCm39)		probably null	Het
Hlx	T	C	1: 184,463,837 (GRCm39)	S168G	probably damaging	Het
Hnf1a	G	T	5: 115,088,747 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,949,472 (GRCm39)	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,512,086 (GRCm39)	T63S	probably damaging	Het
Insrr	C	T	3: 87,708,179 (GRCm39)	S207F	probably damaging	Het
Jak3	C	A	8: 72,134,918 (GRCm39)		probably benign	Het
Jmjd7	G	A	2: 119,860,822 (GRCm39)	A91T	probably damaging	Het
Lgals9	G	T	11: 78,856,638 (GRCm39)	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 102,997,638 (GRCm39)	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837 (GRCm39)	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,439,123 (GRCm39)	T194A	probably damaging	Het
Nek5	T	A	8: 22,578,813 (GRCm39)		probably benign	Het
Pcgf2	A	C	11: 97,582,873 (GRCm39)	I135M	probably benign	Het
Phactr1	G	T	13: 43,213,067 (GRCm39)	A222S	probably benign	Het
Pla2r1	T	C	2: 60,309,859 (GRCm39)	S575G	probably benign	Het
Plcg2	T	C	8: 118,341,027 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Polg	A	G	7: 79,109,899 (GRCm39)		probably benign	Het
Poteg	T	G	8: 27,939,986 (GRCm39)	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,631,203 (GRCm39)	C50S	probably benign	Het
Prx	T	A	7: 27,217,620 (GRCm39)	V707E	probably damaging	Het
Rrp12	C	T	19: 41,863,144 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,363,340 (GRCm39)	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,754,416 (GRCm39)		probably null	Het
Slc26a5	A	C	5: 22,051,343 (GRCm39)	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,532,412 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,926,534 (GRCm39)	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010 (GRCm39)	I260V	probably benign	Het
Smg8	A	T	11: 86,977,288 (GRCm39)	S98T	probably benign	Het
Spart	T	A	3: 55,035,786 (GRCm39)	S548R	probably damaging	Het
Sult6b1	C	T	17: 79,212,958 (GRCm39)	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806 (GRCm39)	Y77H	probably damaging	Het
Tet2	T	A	3: 133,172,565 (GRCm39)	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Uap1l1	T	C	2: 25,253,289 (GRCm39)	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Ugt1a9	T	C	1: 87,999,114 (GRCm39)	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416 (GRCm39)		probably null	Het
Xrcc6	T	C	15: 81,906,793 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zfp804b	T	A	5: 6,822,014 (GRCm39)	T350S	probably benign	Het
Zfp959	G	T	17: 56,203,201 (GRCm39)	R61M	probably null	Het

Other mutations in Cyp11b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CCAAAGGCTAGGTGCTGGAAACTC -3'
(R):5'- GGTAGGTGATGACTGCTTTTCCCTC -3'

Sequencing Primer
(F):5'- GTGCTGGAAACTCCTTTTCCTC -3'
(R):5'- TCAGCAGAGTCAGCAAGC -3'

Posted On

2013-06-12