Mutagenetix > Incidental Mutation

Incidental Mutation 'R4870:Cyp11b2'

376526

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

042480-MU

Accession Numbers

Essential gene?

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

Stock #

R4870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74722859-74728167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74724995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 285 (S285P)

Ref Sequence

ENSEMBL: ENSMUSP00000131503 (fasta)

Gene Model

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

AlphaFold

P15539

Predicted Effect

probably benign
Transcript: ENSMUST00000167634
AA Change: S285P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589
AA Change: S285P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,069,540 (GRCm39)	I1285N	probably damaging	Het
Abcc8	G	A	7: 45,756,683 (GRCm39)	R721*	probably null	Het
Alox8	T	C	11: 69,077,394 (GRCm39)	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,399,344 (GRCm39)		probably null	Het
Cdc14a	A	G	3: 116,217,109 (GRCm39)	I9T	probably benign	Het
Ceacam18	T	C	7: 43,291,328 (GRCm39)	C257R	probably damaging	Het
Cilp	T	C	9: 65,186,980 (GRCm39)	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,372,539 (GRCm39)		probably benign	Het
Csnk1d	A	T	11: 120,874,014 (GRCm39)		probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dnajc14	T	C	10: 128,653,219 (GRCm39)	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,512,284 (GRCm39)	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,229,117 (GRCm39)	C772S	unknown	Het
F2rl1	A	T	13: 95,650,492 (GRCm39)	F130Y	probably damaging	Het
Galk2	C	G	2: 125,771,557 (GRCm39)	S194*	probably null	Het
Garre1	C	A	7: 33,984,312 (GRCm39)	V104L	possibly damaging	Het
Gpbp1l1	A	G	4: 116,430,714 (GRCm39)	T62A	probably benign	Het
H2-Q10	A	T	17: 35,781,357 (GRCm39)	D53V	probably damaging	Het
H2-T22	T	C	17: 36,349,924 (GRCm39)	K356R	probably benign	Het
Insrr	G	A	3: 87,718,911 (GRCm39)	V956M	probably damaging	Het
Ints7	A	G	1: 191,328,443 (GRCm39)	T239A	probably damaging	Het
Isl1	A	G	13: 116,444,806 (GRCm39)		probably benign	Het
Kcng2	A	G	18: 80,366,083 (GRCm39)	C90R	probably benign	Het
Kif3c	C	T	12: 3,451,735 (GRCm39)	P171S	probably damaging	Het
Knl1	A	G	2: 118,911,994 (GRCm39)	T1704A	probably benign	Het
Lats1	A	G	10: 7,581,549 (GRCm39)	Y778C	probably damaging	Het
Limd2	T	C	11: 106,050,215 (GRCm39)	M1V	probably null	Het
Mcm10	A	T	2: 5,008,970 (GRCm39)	I333N	probably damaging	Het
Mipep	T	A	14: 61,040,329 (GRCm39)	L283*	probably null	Het
Mixl1	A	G	1: 180,522,237 (GRCm39)	S215P	probably benign	Het
Mmp21	A	G	7: 133,280,406 (GRCm39)	L188P	probably damaging	Het
Mob1a	T	C	6: 83,317,221 (GRCm39)	S213P	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ndufaf6	T	C	4: 11,060,917 (GRCm39)	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651 (GRCm39)	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,027,032 (GRCm39)	L57Q	probably damaging	Het
Or52e19b	T	A	7: 103,032,840 (GRCm39)	D123V	probably damaging	Het
Or5d35	T	C	2: 87,855,804 (GRCm39)	L246P	probably damaging	Het
Pirb	T	A	7: 3,715,661 (GRCm39)	M839L	probably benign	Het
Plcl2	A	G	17: 50,914,254 (GRCm39)	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,876,771 (GRCm39)	N99S	probably benign	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rptn	A	T	3: 93,303,776 (GRCm39)	K370*	probably null	Het
Simc1	A	G	13: 54,687,576 (GRCm39)	D115G	probably null	Het
Stab1	T	A	14: 30,864,000 (GRCm39)	N136I	probably benign	Het
Syt4	T	A	18: 31,580,409 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,038,106 (GRCm39)	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tenm2	A	T	11: 35,969,396 (GRCm39)	D847E	probably damaging	Het
Th	G	T	7: 142,447,834 (GRCm39)	D321E	probably benign	Het
Tmem44	A	T	16: 30,359,591 (GRCm39)	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,087,122 (GRCm39)	L178P	probably damaging	Het
Trp63	A	G	16: 25,684,968 (GRCm39)	*285W	probably null	Het
Tsen34	T	C	7: 3,697,380 (GRCm39)		probably benign	Het
Tssk4	C	T	14: 55,889,272 (GRCm39)	T256I	probably benign	Het
Ttc17	A	T	2: 94,196,954 (GRCm39)	N464K	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ubn1	A	G	16: 4,895,177 (GRCm39)	E741G	probably damaging	Het
Urad	T	A	5: 147,252,264 (GRCm39)	I63F	probably damaging	Het
Vcan	T	C	13: 89,852,858 (GRCm39)	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,486,639 (GRCm39)	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,060,793 (GRCm39)	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917 (GRCm39)	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Znfx1	A	C	2: 166,897,189 (GRCm39)	F578L	probably benign	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
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
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'- TCTTCAATCAAAGGCAAGAGGC -3'
(R):5'- CTACCAGGCCTATGACTGAAAGG -3'

Sequencing Primer
(F):5'- CTGGGAATGTAGTTTATAGGAAATGC -3'
(R):5'- CCTATGACTGAAAGGACCTAGTGAC -3'

Posted On

2016-03-17