Mutagenetix > Incidental Mutation

Incidental Mutation 'R9100:Cyp11b2'

691647

Institutional Source

Beutler Lab

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74851010-74856318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74851146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 468 (K468E)

Ref Sequence

ENSEMBL: ENSMUSP00000131503 (fasta)

Gene Model

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

AlphaFold

P15539

Predicted Effect

probably damaging
Transcript: ENSMUST00000167634
AA Change: K468E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589
AA Change: K468E

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

0.2199

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (75/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,200,067	T151A	probably benign	Het
4932438A13Rik	A	G	3: 37,044,758	K1256R		Het
Abcc4	A	G	14: 118,616,388	V444A	possibly damaging	Het
Add1	T	A	5: 34,613,278		probably benign	Het
Adgrg3	A	G	8: 95,036,263		probably benign	Het
Adgrl3	A	C	5: 81,694,452	Q809P	possibly damaging	Het
Ankmy2	T	C	12: 36,186,807	C205R	probably damaging	Het
Atp6v1b2	A	G	8: 69,088,824	N11S		Het
B3gnt6	T	A	7: 98,194,751	M1L	not run	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cdca8	T	C	4: 124,936,445	T45A	probably benign	Het
Ces2b	C	A	8: 104,831,589		probably benign	Het
Clip4	G	A	17: 71,810,889	G310R	probably damaging	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cnot3	A	G	7: 3,658,193	D567G	probably benign	Het
Cnot6l	T	C	5: 96,083,016	D364G	probably damaging	Het
Cpped1	A	G	16: 11,828,555	V111A		Het
Dpp4	T	G	2: 62,374,389	T245P	possibly damaging	Het
Fat2	A	G	11: 55,262,521	W3622R	probably damaging	Het
Fat4	A	C	3: 39,010,654	K4920Q		Het
Frmpd2	A	G	14: 33,530,450	I656M	probably benign	Het
Gck	A	G	11: 5,906,516	Y214H	probably damaging	Het
Gde1	C	T	7: 118,695,082	R166H	probably benign	Het
Gdf7	A	T	12: 8,298,652	F215Y	unknown	Het
Gdpgp1	A	G	7: 80,238,534	I104M	probably benign	Het
Gldc	A	G	19: 30,099,914	S953P	possibly damaging	Het
Gm13089	T	G	4: 143,699,157	N72T	probably benign	Het
Gm5483	T	A	16: 36,187,915	M57K	possibly damaging	Het
Golga3	C	T	5: 110,189,678	H411Y	probably benign	Het
Gpn1	G	T	5: 31,498,396	R101I	probably damaging	Het
Itgb5	T	A	16: 33,920,181	S554T	possibly damaging	Het
Klhl1	G	A	14: 96,346,928	L289F	probably damaging	Het
Klhl13	C	T	X: 23,247,494	R95Q	probably benign	Het
Kmt2d	G	C	15: 98,849,951	T3164R	unknown	Het
Knl1	T	C	2: 119,068,988	V390A	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	GCCACAGCCCCCACAGGAACTACA	7: 142,175,099		probably benign	Het
Lamtor4	G	A	5: 138,256,333		probably benign	Het
Lonrf1	AGGCGGCGGCGGCGG	AGGCGGCGGCGG	8: 36,248,765		probably benign	Het
Ltbp1	C	T	17: 75,315,107	L829F	probably benign	Het
Ltbp1	T	A	17: 75,315,108	L829H	probably damaging	Het
Mrgpra1	C	T	7: 47,334,984	E316K	probably damaging	Het
Muc16	T	A	9: 18,645,670	H3109L	unknown	Het
Nck1	T	C	9: 100,495,508	E368G	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Nus1	A	T	10: 52,429,191		probably null	Het
Nxph2	T	C	2: 23,399,768	V44A	probably benign	Het
Olfr1029	A	G	2: 85,975,752	K170E	probably benign	Het
Olfr1161	T	C	2: 88,024,986	I88T	probably benign	Het
Olfr1277	A	G	2: 111,269,749	L206P	probably benign	Het
Olfr1305	A	G	2: 111,873,261	M198T	possibly damaging	Het
Olfr1427	G	T	19: 12,098,890	H250N	probably benign	Het
Olfr213	A	T	6: 116,541,029	N192I	possibly damaging	Het
Olfr390	A	G	11: 73,787,861	K308E	probably benign	Het
Otof	T	C	5: 30,382,352	D1039G	possibly damaging	Het
Parpbp	T	A	10: 88,133,107	Q159L	possibly damaging	Het
Per2	A	T	1: 91,423,742	L1014Q	possibly damaging	Het
Pik3ap1	C	G	19: 41,324,485		silent	Het
Pik3ca	A	G	3: 32,460,019	N885D	probably damaging	Het
Pip5k1c	T	C	10: 81,309,222	V299A	probably benign	Het
Polr3h	A	T	15: 81,922,516		probably benign	Het
Pramef6	T	A	4: 143,897,076	N176I	probably benign	Het
Pus3	C	A	9: 35,565,650	Q248K	probably benign	Het
Sectm1a	T	A	11: 121,069,743	Q82L	possibly damaging	Het
Sema3e	A	G	5: 14,232,194	Y448C	probably damaging	Het
Slc12a4	A	T	8: 105,949,142	S584T	probably benign	Het
Slc25a40	T	C	5: 8,449,613	F249L	probably benign	Het
St3gal6	T	A	16: 58,486,430	N79I		Het
Stxbp4	A	T	11: 90,535,494	I496K	possibly damaging	Het
Sulf1	A	G	1: 12,807,894	Y202C	probably damaging	Het
Swt1	A	G	1: 151,423,505		probably null	Het
Tdrd6	T	C	17: 43,625,414	Y1581C	possibly damaging	Het
Tenm4	G	C	7: 96,845,854	G1163A	probably damaging	Het
Tlr4	A	G	4: 66,840,281	E437G	probably benign	Het
Txnrd2	A	T	16: 18,437,565	H101L	probably damaging	Het
Uba3	A	T	6: 97,186,710	V306E	probably damaging	Het
Unc5b	T	C	10: 60,768,373	Q814R	probably damaging	Het
Vamp5	T	G	6: 72,370,321	E5A	possibly damaging	Het
Vmn1r69	T	A	7: 10,580,137	R222S	probably damaging	Het
Zfp507	G	A	7: 35,795,021	T199I	probably benign	Het
Zfyve19	T	G	2: 119,211,237	L95R	probably benign	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
IGL02419:Cyp11b2	APN	15	74851055	missense	probably damaging	1.00
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
R9501:Cyp11b2	UTSW	15	74851112	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTGGAGGTCTTCAGCTG -3'
(R):5'- GTGAGGTCTCTATAGCTGGTCC -3'

Sequencing Primer
(F):5'- AAGGATGACTGTGTGACCTCC -3'
(R):5'- TCTATAGCTGGTCCTCGGGC -3'

Posted On

2021-12-30