Mutagenetix > Incidental Mutation

Incidental Mutation 'R8054:Cyp2c23'

619297

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c23

Ensembl Gene

ENSMUSG00000025197

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 23

Synonyms

Cyp2c44

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44005022-44029208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44007116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 404 (E404A)

Ref Sequence

ENSEMBL: ENSMUSP00000026211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026211] [ENSMUST00000211830]

AlphaFold

E9Q5K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000026211
AA Change: E404A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197
AA Change: E404A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	34	491	2.1e-152	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211830
AA Change: E404A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (75/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele show reduced proliferative and tubulogenic responses in lung endothelial cells, decreased tumor angiogenesis and growth of induced tumors, and high potassium-induced hypertension with decreased urinary sodium excretion and increased plasma sodium levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,824,272	N399S	probably benign	Het
Akap9	T	C	5: 4,038,707		probably null	Het
Ankrd17	A	G	5: 90,291,055	I483T	probably benign	Het
Arl13b	T	C	16: 62,806,597	D247G	probably benign	Het
Brca2	A	G	5: 150,536,504	I415V	probably benign	Het
Brpf3	C	A	17: 28,836,597	S1173R	probably damaging	Het
Ccar1	A	G	10: 62,747,436	L966P	unknown	Het
Ccdc129	A	T	6: 55,976,439	K913N	probably damaging	Het
Cfap61	A	G	2: 145,973,518	N249S	probably damaging	Het
Clip4	T	A	17: 71,834,273	Y541N	possibly damaging	Het
Csn2	C	T	5: 87,698,027		probably null	Het
Cyp2e1	A	G	7: 140,770,958	E281G	possibly damaging	Het
Cyp2r1	T	A	7: 114,552,084		probably null	Het
D430041D05Rik	T	A	2: 104,155,045	I1226F	possibly damaging	Het
Dbx1	A	T	7: 49,632,750	W236R	probably damaging	Het
Dcp2	T	G	18: 44,405,707	N251K	probably benign	Het
Disp1	A	T	1: 183,088,248	Y869*	probably null	Het
Dnajc8	T	A	4: 132,544,757		probably benign	Het
Ehhadh	A	G	16: 21,773,493		probably null	Het
Eml3	A	T	19: 8,939,050	T670S	possibly damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbn1	A	T	2: 125,346,018	D1530E	possibly damaging	Het
Gm11639	A	G	11: 104,730,400	N822D	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Hsd3b3	A	T	3: 98,742,015	Y331N	probably damaging	Het
Ino80d	T	C	1: 63,058,678	R791G	possibly damaging	Het
Jade2	T	C	11: 51,818,614	R523G	probably benign	Het
Kmt2d	A	T	15: 98,843,925	D4451E	unknown	Het
Lax1	T	C	1: 133,683,607	T76A	probably benign	Het
Map4k1	A	G	7: 28,989,756		probably benign	Het
Mcu	G	A	10: 59,454,995	T121M	probably damaging	Het
Mepce	T	A	5: 137,784,742	K441*	probably null	Het
Mettl21e	C	A	1: 44,206,655	V144F	probably damaging	Het
Muc6	T	A	7: 141,645,481	S1049C	probably damaging	Het
Myh14	C	T	7: 44,625,127	V1246M	probably damaging	Het
Myo3a	A	T	2: 22,574,317	Q1128L	probably benign	Het
Nat8f2	T	C	6: 85,867,772	S203G	probably benign	Het
Npas2	A	G	1: 39,287,571	T46A	possibly damaging	Het
Nup133	T	C	8: 123,949,217		probably benign	Het
Olfr11	A	T	13: 21,638,949	D191E	probably benign	Het
Olfr1375	T	A	11: 51,048,263	I52N	probably benign	Het
Olfr213	A	G	6: 116,540,999	H182R	probably damaging	Het
Olfr44	C	A	9: 39,484,737	C172F	probably damaging	Het
Olfr998	A	T	2: 85,590,840	Q100L	probably damaging	Het
Oplah	C	T	15: 76,306,257	R102H	probably benign	Het
Osgep	C	T	14: 50,924,671		probably benign	Het
Pam	A	T	1: 97,840,389	D705E	probably damaging	Het
Papd5	T	A	8: 88,247,558	I294N	probably damaging	Het
Pkd1l3	C	G	8: 109,646,376	N1284K	probably damaging	Het
Plekhg2	A	G	7: 28,365,316	F407S	probably damaging	Het
Pygl	A	G	12: 70,227,339		probably null	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Het
Rhobtb1	A	G	10: 69,248,890	N37S	probably damaging	Het
Sema6a	T	A	18: 47,291,905	D213V	probably damaging	Het
Skint11	A	T	4: 114,244,609	Q273L	possibly damaging	Het
Skint7	A	T	4: 111,982,229	H240L	probably benign	Het
Slc12a2	C	T	18: 57,921,872	Q862*	probably null	Het
Smox	A	G	2: 131,522,180	S468G	probably benign	Het
Spc25	A	G	2: 69,204,913	S50P	probably damaging	Het
Spert	A	G	14: 75,583,899	Y129H	probably benign	Het
Srrm1	A	T	4: 135,325,015	S683T	unknown	Het
Syne1	T	C	10: 5,270,970	E3103G	probably benign	Het
Tenm4	C	A	7: 96,729,346		probably benign	Het
Tmem123	T	C	9: 7,791,063	S122P	possibly damaging	Het
Trav18	A	T	14: 53,831,115	K4I	probably benign	Het
Triml1	T	C	8: 43,130,383	S394G	probably damaging	Het
Ubr4	A	T	4: 139,468,102	S1212C	unknown	Het
Usp34	G	A	11: 23,361,295	R442Q		Het
Usp43	G	A	11: 67,891,458	P378L	probably damaging	Het
Vmn1r212	A	G	13: 22,883,765	F133L	probably benign	Het
Vmn1r213	A	G	13: 23,011,740	I164M	possibly damaging	Het
Vmn2r19	C	T	6: 123,316,039	P347S	probably damaging	Het
Zfp106	A	T	2: 120,524,519	V1280E	possibly damaging	Het
Zfp317	T	C	9: 19,641,969	S13P	probably benign	Het
Zfp608	C	A	18: 54,899,546	A441S	probably benign	Het
Zufsp	T	C	10: 33,940,252	D232G	probably damaging	Het

Other mutations in Cyp2c23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Cyp2c23	APN	19	44015073	missense	possibly damaging	0.94
IGL01642:Cyp2c23	APN	19	44005556	missense	probably damaging	1.00
IGL01782:Cyp2c23	APN	19	44029115	missense	possibly damaging	0.77
IGL01843:Cyp2c23	APN	19	44005607	missense	probably benign	0.02
IGL02902:Cyp2c23	APN	19	44021558	splice site	probably benign
IGL03382:Cyp2c23	APN	19	44014932	missense	probably damaging	0.99
R0196:Cyp2c23	UTSW	19	44012356	missense	probably damaging	0.98
R0735:Cyp2c23	UTSW	19	44016810	missense	probably damaging	1.00
R1384:Cyp2c23	UTSW	19	44013663	missense	probably damaging	1.00
R1495:Cyp2c23	UTSW	19	44005508	missense	probably benign	0.07
R1809:Cyp2c23	UTSW	19	44021558	splice site	probably benign
R1872:Cyp2c23	UTSW	19	44005551	nonsense	probably null
R2866:Cyp2c23	UTSW	19	44005446	missense	probably damaging	1.00
R3801:Cyp2c23	UTSW	19	44007039	missense	probably benign	0.11
R4234:Cyp2c23	UTSW	19	44029165	missense	unknown
R4748:Cyp2c23	UTSW	19	44016737	splice site	probably null
R4948:Cyp2c23	UTSW	19	44021699	missense	possibly damaging	0.49
R5101:Cyp2c23	UTSW	19	44029183	missense	unknown
R5420:Cyp2c23	UTSW	19	44015664	critical splice donor site	probably null
R5770:Cyp2c23	UTSW	19	44021579	missense	probably damaging	0.99
R5993:Cyp2c23	UTSW	19	44012360	missense	probably damaging	1.00
R6254:Cyp2c23	UTSW	19	44005463	missense	probably benign	0.03
R6269:Cyp2c23	UTSW	19	44029187	start codon destroyed	unknown
R6610:Cyp2c23	UTSW	19	44007081	missense	probably damaging	1.00
R7344:Cyp2c23	UTSW	19	44021737	splice site	probably null
R7603:Cyp2c23	UTSW	19	44014930	missense	probably damaging	1.00
R8098:Cyp2c23	UTSW	19	44015803	missense	probably benign	0.29
R8157:Cyp2c23	UTSW	19	44021627	missense	probably benign	0.00
R8813:Cyp2c23	UTSW	19	44013615	missense	probably benign	0.07
R9497:Cyp2c23	UTSW	19	44021646	missense	probably damaging	0.99
X0065:Cyp2c23	UTSW	19	44029171	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAATGTCTCTAGCTAGACTTGG -3'
(R):5'- TAGCAGCAGTAACCCGAGAC -3'

Sequencing Primer
(F):5'- CTTGGGAAGTTAGAACAGTTCGATC -3'
(R):5'- ACAGCCAGGGACTATGTGAGTATTTC -3'

Posted On

2020-01-23