Incidental Mutation 'R3693:Cyp11b2'
| ID |
268872 |
| 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 |
040688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R3693 (G1)
|
| Quality Score |
100 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
74722859-74728167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74727857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 75
(R75Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167634]
|
| AlphaFold |
P15539 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167634
AA Change: R75Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000131503
Gene: ENSMUSG00000022589
AA Change: R75Q
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (37/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,229 (GRCm39) |
Y767C |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,655,443 (GRCm39) |
D122G |
probably damaging |
Het |
| Cherp |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
8: 73,221,755 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,309,080 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnaja2 |
T |
C |
8: 86,273,249 (GRCm39) |
K223E |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,027,293 (GRCm39) |
I294V |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,152,904 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,467 (GRCm39) |
Y220C |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,774,999 (GRCm39) |
E533G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,685 (GRCm39) |
Y178F |
probably damaging |
Het |
| Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,234,946 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
C |
A |
16: 14,035,813 (GRCm39) |
E1038D |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,697,954 (GRCm39) |
Y297C |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,811,782 (GRCm39) |
K202E |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pcdha1 |
A |
T |
18: 37,065,361 (GRCm39) |
K675I |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,769,209 (GRCm39) |
I40T |
probably benign |
Het |
| Pip5k1a |
A |
T |
3: 94,985,498 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,557,234 (GRCm39) |
Q687K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,412,408 (GRCm39) |
C490S |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,341,971 (GRCm39) |
T887S |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,127,695 (GRCm39) |
L349Q |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Tas2r143 |
G |
A |
6: 42,377,910 (GRCm39) |
V247I |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,030,283 (GRCm39) |
Y1029F |
probably benign |
Het |
| Ugt1a6b |
A |
G |
1: 88,035,516 (GRCm39) |
T285A |
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 |
|
|
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 |
|
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'- CATGAGTCAGGCCCATAACCTC -3'
(R):5'- TCTCAGGGTGACAGCAGATG -3'
Sequencing Primer
(F):5'- AGGCCCATAACCTCCTGTG -3'
(R):5'- ATGTGTGGCTGGCAAGACC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation