Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Cyp11b2'

700831

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

068894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74722859-74728167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74725662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 195 (F195S)

Ref Sequence

ENSEMBL: ENSMUSP00000131503 (fasta)

Gene Model

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

AlphaFold

P15539

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167634
AA Change: F195S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589
AA Change: F195S

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (63/63)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,240,834 (GRCm39)	E899A	possibly damaging	Het
Best2	T	A	8: 85,737,418 (GRCm39)	I230F	probably damaging	Het
C2cd2	T	C	16: 97,676,403 (GRCm39)	E448G	probably damaging	Het
C2cd3	T	G	7: 100,040,291 (GRCm39)	S287A	probably benign	Het
Camta2	G	A	11: 70,567,234 (GRCm39)	P677S	probably benign	Het
Cand2	C	T	6: 115,769,490 (GRCm39)	R767C	probably damaging	Het
Celsr3	G	A	9: 108,704,293 (GRCm39)	E259K	probably benign	Het
Cep250	C	G	2: 155,834,035 (GRCm39)	Q1987E	probably benign	Het
Chn1	T	C	2: 73,443,430 (GRCm39)	D440G	probably benign	Het
Cmbl	A	T	15: 31,585,449 (GRCm39)	D111V	possibly damaging	Het
Col5a3	T	A	9: 20,682,453 (GRCm39)	I1664F	unknown	Het
Cp	T	C	3: 20,033,158 (GRCm39)	S662P	possibly damaging	Het
Cpne5	G	A	17: 29,430,677 (GRCm39)	R78C	probably damaging	Het
Cst5	A	G	2: 149,249,261 (GRCm39)	T104A	probably benign	Het
Dcaf17	T	C	2: 70,920,136 (GRCm39)	Y475H	probably benign	Het
Edem2	G	C	2: 155,571,212 (GRCm39)	L16V	unknown	Het
Eeig1	A	G	2: 32,455,674 (GRCm39)	S267G	probably benign	Het
Ext2	A	G	2: 93,644,144 (GRCm39)	W46R	probably benign	Het
Gal3st3	T	A	19: 5,352,605 (GRCm39)	S11T	probably benign	Het
Garin5b	A	T	7: 4,762,253 (GRCm39)	H265Q		Het
Gfi1	T	A	5: 107,865,725 (GRCm39)	I451F	possibly damaging	Het
Gfpt2	T	C	11: 49,714,185 (GRCm39)	L314P	probably damaging	Het
Gm3250	A	T	10: 77,618,127 (GRCm39)	C84S	unknown	Het
Hmcn1	A	T	1: 150,565,320 (GRCm39)	V2269E	probably benign	Het
Ighv1-55	T	C	12: 115,172,013 (GRCm39)	H18R	probably benign	Het
Iqgap3	G	A	3: 87,998,883 (GRCm39)	G328E	probably benign	Het
Klf6	G	T	13: 5,917,233 (GRCm39)	C303F	probably benign	Het
Klhl35	A	T	7: 99,122,129 (GRCm39)	S77C	probably damaging	Het
Ktn1	T	G	14: 47,941,694 (GRCm39)	V822G	probably benign	Het
Lbhd2	G	T	12: 111,375,040 (GRCm39)	G21W	probably damaging	Het
Lrp1b	G	A	2: 40,615,457 (GRCm39)	R3649*	probably null	Het
Map2	C	A	1: 66,453,312 (GRCm39)	T734N	probably damaging	Het
Mas1	A	G	17: 13,060,839 (GRCm39)	F195L	possibly damaging	Het
Med1	A	T	11: 98,080,009 (GRCm39)	M44K	possibly damaging	Het
Morc3	T	C	16: 93,667,482 (GRCm39)	V620A	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Nucb2	T	A	7: 116,125,631 (GRCm39)	I159N	probably damaging	Het
Olfm5	A	G	7: 103,802,984 (GRCm39)	L493P	probably benign	Het
Or1e1	T	G	11: 73,244,797 (GRCm39)	F73V	probably damaging	Het
Or2ag15	A	T	7: 106,340,759 (GRCm39)	C127*	probably null	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pcdhb22	T	A	18: 37,651,813 (GRCm39)	C94S	probably damaging	Het
Pcdhga5	A	G	18: 37,829,537 (GRCm39)	I662V	probably benign	Het
Plcb2	G	A	2: 118,547,878 (GRCm39)	T472M	possibly damaging	Het
Plcb4	A	G	2: 135,849,795 (GRCm39)	E1142G	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Polr2l	T	C	7: 141,053,285 (GRCm39)	Y43C	probably damaging	Het
Prkcb	T	A	7: 122,127,771 (GRCm39)	N298K	probably benign	Het
Ptar1	T	A	19: 23,695,414 (GRCm39)	C294S	probably benign	Het
Ptprq	T	C	10: 107,401,736 (GRCm39)	I1919V		Het
Slc25a18	C	T	6: 120,769,022 (GRCm39)	R180C	probably benign	Het
Slc27a3	A	C	3: 90,295,768 (GRCm39)	S285R	probably damaging	Het
Smg1	C	T	7: 117,783,032 (GRCm39)	V1092I	unknown	Het
Spata19	T	G	9: 27,309,024 (GRCm39)	I54R	possibly damaging	Het
St6galnac5	T	C	3: 152,551,956 (GRCm39)	T204A	probably benign	Het
Tdpoz8	T	A	3: 92,981,341 (GRCm39)	C46S	probably benign	Het
Trpc3	T	C	3: 36,694,831 (GRCm39)	I708V	probably benign	Het
Ttn	T	C	2: 76,775,183 (GRCm39)	E1999G	unknown	Het
Ube3b	C	T	5: 114,542,607 (GRCm39)	T488M	probably damaging	Het
Vmn1r235	A	T	17: 21,482,271 (GRCm39)	I199F	probably benign	Het
Vsig8	A	T	1: 172,388,340 (GRCm39)	N215Y	possibly damaging	Het
Wapl	A	G	14: 34,399,417 (GRCm39)	K162R	possibly damaging	Het
Wdpcp	A	G	11: 21,614,014 (GRCm39)	T60A	probably benign	Het
Wdr26	A	T	1: 181,010,351 (GRCm39)	I566N	probably damaging	Het
Wdr46	C	T	17: 34,163,555 (GRCm39)	T371M	probably benign	Het
Zdbf2	T	C	1: 63,344,923 (GRCm39)	S1101P	possibly damaging	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
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
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'- CATGGATAAACTTCAGGCTGCC -3'
(R):5'- AGAATGGCGTCTCAACCGAC -3'

Sequencing Primer
(F):5'- TAAACTTCAGGCTGCCAGGGC -3'
(R):5'- TAGCAAGGGACTTCTTGG -3'

Posted On

2022-02-07