Mutagenetix > Incidental Mutation

Incidental Mutation 'R7275:Cyp11b2'

565542

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

045358-MU

Accession Numbers

Essential gene?

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

Stock #

R7275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74722859-74728167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74725840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 136 (G136W)

Ref Sequence

ENSEMBL: ENSMUSP00000131503 (fasta)

Gene Model

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

AlphaFold

P15539

Predicted Effect

probably damaging
Transcript: ENSMUST00000167634
AA Change: G136W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589
AA Change: G136W

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

0.7320

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (64/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	A	12: 72,956,795 (GRCm39)	T132S	possibly damaging	Het
4933412E24Rik	A	G	15: 59,887,738 (GRCm39)	V234A	probably benign	Het
Abtb3	T	A	10: 85,490,346 (GRCm39)	L1004Q	probably damaging	Het
Acsm5	A	G	7: 119,136,511 (GRCm39)	T361A	possibly damaging	Het
Agxt2	G	A	15: 10,358,753 (GRCm39)	R24H	probably benign	Het
Asb16	G	T	11: 102,159,935 (GRCm39)	W96L	probably damaging	Het
Bche	T	A	3: 73,607,969 (GRCm39)	T486S	probably benign	Het
Bpnt2	C	A	4: 4,792,962 (GRCm39)	G48W	probably damaging	Het
Cast	T	C	13: 74,875,453 (GRCm39)	T382A	probably benign	Het
Cdcp1	T	A	9: 123,014,119 (GRCm39)	K218N	possibly damaging	Het
Ceacam18	G	A	7: 43,291,308 (GRCm39)	G250D	probably damaging	Het
Ciao3	T	A	17: 25,994,108 (GRCm39)	V52E	possibly damaging	Het
Ctnnd2	T	C	15: 30,905,855 (GRCm39)	I834T	possibly damaging	Het
Dis3	A	G	14: 99,324,925 (GRCm39)	V502A	probably damaging	Het
Dnai2	T	A	11: 114,648,054 (GRCm39)	M610K	unknown	Het
Drosha	G	A	15: 12,846,169 (GRCm39)	V435I	possibly damaging	Het
Dsc2	T	A	18: 20,184,236 (GRCm39)	R51*	probably null	Het
Ergic2	A	T	6: 148,096,757 (GRCm39)	C170S	probably damaging	Het
Exoc7	A	T	11: 116,195,688 (GRCm39)		probably null	Het
Fbxw25	G	T	9: 109,483,660 (GRCm39)	A184E		Het
Gm4846	T	A	1: 166,314,648 (GRCm39)	T332S	probably benign	Het
Greb1l	T	A	18: 10,544,561 (GRCm39)	M1385K	probably benign	Het
Grik1	T	C	16: 87,709,708 (GRCm39)	N871S	probably benign	Het
Il11ra1	T	C	4: 41,765,109 (GRCm39)	L145P	probably damaging	Het
Inpp5e	A	G	2: 26,298,104 (GRCm39)	S166P	probably benign	Het
Kdm4b	T	A	17: 56,703,333 (GRCm39)	L676H	probably damaging	Het
Lrp2	T	A	2: 69,289,875 (GRCm39)	K3655*	probably null	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Map3k14	T	C	11: 103,117,848 (GRCm39)	E648G	probably damaging	Het
Mbtps1	A	T	8: 120,269,489 (GRCm39)	D200E	probably benign	Het
Mttp	T	C	3: 137,829,546 (GRCm39)	D114G	probably benign	Het
Mup13	G	A	4: 61,182,752 (GRCm39)	T101M	probably benign	Het
Neb	T	A	2: 52,096,956 (GRCm39)	T4953S	probably benign	Het
Nfasc	A	C	1: 132,562,001 (GRCm39)	L147R	probably damaging	Het
Obox6	T	C	7: 15,567,805 (GRCm39)	E214G	probably benign	Het
Opn3	T	C	1: 175,493,039 (GRCm39)	N175S	probably damaging	Het
Or1j12	A	T	2: 36,342,851 (GRCm39)	M85L	probably benign	Het
Or8g22	T	A	9: 38,958,815 (GRCm39)		probably benign	Het
Or8k22	C	A	2: 86,163,136 (GRCm39)	C188F	possibly damaging	Het
Osbpl3	G	T	6: 50,323,410 (GRCm39)	D224E	probably benign	Het
Osr2	A	G	15: 35,301,032 (GRCm39)	D196G	probably damaging	Het
Pde8b	T	A	13: 95,179,442 (GRCm39)	N405Y	probably damaging	Het
Pirb	A	G	7: 3,719,177 (GRCm39)	S571P	probably benign	Het
Psmc3	T	A	2: 90,886,275 (GRCm39)	I163N	probably damaging	Het
Rapgef4	A	G	2: 72,038,445 (GRCm39)	D532G	probably damaging	Het
Retreg1	A	G	15: 25,971,684 (GRCm39)	D208G	probably benign	Het
Rgsl1	T	G	1: 153,679,876 (GRCm39)		probably null	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Slc30a2	T	A	4: 134,076,581 (GRCm39)		probably null	Het
Slc6a19	T	C	13: 73,834,197 (GRCm39)	D335G	probably benign	Het
Slco4c1	G	A	1: 96,799,497 (GRCm39)	T113M	probably benign	Het
Speer1c	T	C	5: 10,295,192 (GRCm39)	N71D		Het
Stxbp6	A	G	12: 44,948,786 (GRCm39)	F108L	probably benign	Het
Sulf1	T	A	1: 12,921,189 (GRCm39)		probably null	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tbc1d19	T	A	5: 54,029,618 (GRCm39)	D326E	probably damaging	Het
Trappc14	T	C	5: 138,261,839 (GRCm39)	S86G	probably benign	Het
Trgv3	A	G	13: 19,427,188 (GRCm39)	T24A	probably benign	Het
Trpm3	T	A	19: 22,956,048 (GRCm39)	M1170K	possibly damaging	Het
Tubgcp6	G	A	15: 88,987,146 (GRCm39)	Q1276*	probably null	Het
Tyrp1	A	G	4: 80,755,821 (GRCm39)	K197E	possibly damaging	Het
Ube3d	T	C	9: 86,322,679 (GRCm39)	D165G	probably damaging	Het
Zfp212	A	G	6: 47,897,678 (GRCm39)	T7A	probably benign	Het
Zhx1	T	C	15: 57,917,758 (GRCm39)	T163A	probably benign	Het
Zp2	A	T	7: 119,734,576 (GRCm39)		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
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
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'- AGGTTGAGACTTTCCCCTGG -3'
(R):5'- CTCTGCCCAACATATGTAGGCTG -3'

Sequencing Primer
(F):5'- GGCCACACACCTTCTATAGTGTAG -3'
(R):5'- CCAACATATGTAGGCTGCTTTGGAAG -3'

Posted On

2019-06-26