Mutagenetix > Incidental Mutation

Incidental Mutation 'R4947:Cyp11b2'

383526

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

042544-MU

Accession Numbers

Essential gene?

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

Stock #

R4947 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

74722859-74728167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74723419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 415 (N415S)

Ref Sequence

ENSEMBL: ENSMUSP00000131503 (fasta)

Gene Model

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

AlphaFold

P15539

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167634
AA Change: N415S

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589
AA Change: N415S

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

0.1864

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.4%

Validation Efficiency

100% (88/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,959,343 (GRCm39)	H119L	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Adamtsl1	A	T	4: 85,683,037 (GRCm39)	Q36L	possibly damaging	Het
Bcl2a1a	G	A	9: 88,839,335 (GRCm39)	E78K	probably damaging	Het
Cdk5rap2	A	G	4: 70,146,829 (GRCm39)		probably null	Het
Copg1	C	A	6: 87,880,455 (GRCm39)		probably benign	Het
Crb2	C	T	2: 37,685,343 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,142,127 (GRCm39)	Y83C	probably damaging	Het
Ctbp2	C	A	7: 132,601,012 (GRCm39)	G584C	probably damaging	Het
D630003M21Rik	T	A	2: 158,028,116 (GRCm39)	T1095S	unknown	Het
D630045J12Rik	C	T	6: 38,125,478 (GRCm39)	R1512H	probably damaging	Het
Dnah5	T	A	15: 28,272,518 (GRCm39)	V1078E	probably benign	Het
Donson	A	T	16: 91,479,439 (GRCm39)	D366E	probably damaging	Het
Evpl	T	C	11: 116,114,201 (GRCm39)	E1163G	possibly damaging	Het
Fcgbp	A	G	7: 27,789,237 (GRCm39)	K601R	probably benign	Het
Fez1	A	C	9: 36,780,171 (GRCm39)	I323L	probably damaging	Het
Flacc1	T	A	1: 58,715,698 (GRCm39)	T173S	probably benign	Het
Fmnl2	T	G	2: 52,963,722 (GRCm39)	S285A	probably benign	Het
Frem1	A	G	4: 82,884,371 (GRCm39)	S1194P	probably damaging	Het
Gm10754	A	T	10: 97,518,010 (GRCm39)		probably benign	Het
Gm14226	A	T	2: 154,866,879 (GRCm39)	T279S	probably benign	Het
Gm16332	G	A	1: 139,793,730 (GRCm39)		noncoding transcript	Het
Gm21718	T	A	14: 51,553,416 (GRCm39)		noncoding transcript	Het
Gm9871	A	G	6: 101,773,734 (GRCm39)		noncoding transcript	Het
Grm1	A	G	10: 10,658,377 (GRCm39)	F371S	probably damaging	Het
Gtdc1	T	C	2: 44,481,968 (GRCm39)	I128V	probably null	Het
H2-Q3	T	A	17: 35,578,708 (GRCm39)		noncoding transcript	Het
Ibtk	T	C	9: 85,592,465 (GRCm39)	T998A	probably benign	Het
Ifi204	A	G	1: 173,583,316 (GRCm39)	S301P	probably damaging	Het
Kcnn1	C	A	8: 71,297,073 (GRCm39)	A545S	probably benign	Het
Keap1	T	G	9: 21,148,849 (GRCm39)	S53R	probably benign	Het
Lat	A	G	7: 125,967,110 (GRCm39)	V138A	probably benign	Het
Lrpprc	A	T	17: 85,078,966 (GRCm39)	N249K	probably benign	Het
Lrrc40	A	G	3: 157,769,472 (GRCm39)	I557V	probably benign	Het
Maml3	A	G	3: 51,763,960 (GRCm39)	F335L	probably benign	Het
Mcmbp	A	T	7: 128,314,420 (GRCm39)	D265E	probably damaging	Het
Me3	A	G	7: 89,282,222 (GRCm39)	H35R	probably benign	Het
Mif4gd	C	A	11: 115,500,463 (GRCm39)	V32L	probably benign	Het
Mlana	T	C	19: 29,677,551 (GRCm39)	S18P	probably damaging	Het
Mpnd	T	A	17: 56,317,268 (GRCm39)		probably benign	Het
Ms4a4b	T	C	19: 11,432,101 (GRCm39)	V74A	probably benign	Het
Mta2	T	C	19: 8,923,655 (GRCm39)	F133L	possibly damaging	Het
Myo5a	A	G	9: 75,030,330 (GRCm39)	M150V	probably damaging	Het
Nbr1	T	C	11: 101,465,903 (GRCm39)	V487A	probably benign	Het
Nos3	G	A	5: 24,582,853 (GRCm39)	C660Y	probably damaging	Het
Ocln	T	C	13: 100,676,223 (GRCm39)	D90G	probably damaging	Het
Or12d17	T	C	17: 37,777,634 (GRCm39)	V179A	probably damaging	Het
Or1e1c	C	T	11: 73,266,243 (GRCm39)	R223*	probably null	Het
Or52n5	A	G	7: 104,587,949 (GRCm39)	D72G	possibly damaging	Het
Or5h18	A	G	16: 58,847,808 (GRCm39)	L154P	probably damaging	Het
Pcdh7	A	G	5: 57,879,258 (GRCm39)	K938E	probably damaging	Het
Pcgf3	T	C	5: 108,635,827 (GRCm39)	F166L	probably benign	Het
Pid1	A	T	1: 84,015,981 (GRCm39)	V128E	possibly damaging	Het
Polr3a	A	C	14: 24,532,532 (GRCm39)	D187E	probably benign	Het
Prokr2	T	C	2: 132,215,573 (GRCm39)	D135G	probably damaging	Het
Rnf141	T	C	7: 110,424,527 (GRCm39)	T14A	possibly damaging	Het
Serinc1	T	C	10: 57,399,141 (GRCm39)	E254G	probably damaging	Het
Silc1	A	T	12: 27,210,227 (GRCm39)		noncoding transcript	Het
Skint11	T	C	4: 114,048,707 (GRCm39)	F11L	possibly damaging	Het
Slc22a28	T	C	19: 8,108,816 (GRCm39)	T109A	probably benign	Het
Sntg1	C	A	1: 8,853,022 (GRCm39)	V43L	probably damaging	Het
Sp140l2	G	A	1: 85,090,203 (GRCm39)	A124V	probably damaging	Het
Strn	T	C	17: 78,969,208 (GRCm39)	D398G	probably damaging	Het
Tacc2	A	T	7: 130,227,629 (GRCm39)	E1438V	probably damaging	Het
Tas2r139	A	G	6: 42,118,500 (GRCm39)	T211A	possibly damaging	Het
Tbkbp1	T	C	11: 97,029,770 (GRCm39)		probably benign	Het
Thbs3	T	C	3: 89,133,738 (GRCm39)	Y897H	probably damaging	Het
Timm50	G	T	7: 28,009,469 (GRCm39)		probably benign	Het
Tmem132a	T	C	19: 10,844,298 (GRCm39)	Q100R	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Unc93b1	C	A	19: 3,985,871 (GRCm39)	T90K	probably benign	Het
Upk3bl	T	C	5: 136,086,099 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,821,860 (GRCm39)	H179Q	probably benign	Het
Vmn2r57	A	T	7: 41,049,919 (GRCm39)	F610Y	probably damaging	Het
Vmn2r80	T	G	10: 79,030,532 (GRCm39)	L786R	probably damaging	Het
Zc3h14	A	G	12: 98,726,083 (GRCm39)	T323A	probably benign	Het
Zfp532	T	C	18: 65,758,137 (GRCm39)	I690T	possibly damaging	Het
Zfp729b	T	C	13: 67,744,791 (GRCm39)	N47S	probably 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
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'- TAGACCCTGAAGGCCTATGC -3'
(R):5'- AAGCTCAGACTTGGTGCTTC -3'

Sequencing Primer
(F):5'- GTTCCAAATACTGCTCATCAGC -3'
(R):5'- GACTTGGTGCTTCAGAACTACCATG -3'

Posted On

2016-04-27