Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02902:Cyp2c23'

363679

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2c23

Ensembl Gene

ENSMUSG00000025197

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 23

Synonyms

Cyp2c44

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02902

Quality Score

Status

Chromosome

Chromosomal Location

44005022-44029208 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 44021558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148377 (fasta)

Gene Model

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

AlphaFold

E9Q5K4

Predicted Effect

probably benign
Transcript: ENSMUST00000026211

SMART Domains

Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211830

Coding Region Coverage

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	G	T	1: 86,046,365	V135F	possibly damaging	Het
Aatk	T	C	11: 120,011,777	T541A	probably benign	Het
Abcc1	T	C	16: 14,423,127	L516P	probably damaging	Het
Actl6a	T	A	3: 32,722,642	V350E	possibly damaging	Het
Afm	A	G	5: 90,526,363	K245E	possibly damaging	Het
Agr3	T	C	12: 35,946,916	V63A	probably damaging	Het
Arhgef28	A	T	13: 97,946,875	M1162K	probably damaging	Het
BC003331	C	A	1: 150,384,428		probably null	Het
Casq2	T	A	3: 102,086,797	C53*	probably null	Het
Ccdc181	T	C	1: 164,279,901	V51A	probably benign	Het
Cd101	A	G	3: 101,018,994		probably benign	Het
Csdc2	T	C	15: 81,948,600	V69A	probably benign	Het
Dnph1	A	G	17: 46,498,501		probably benign	Het
Egf	T	C	3: 129,681,147	T1124A	probably benign	Het
Gm13089	A	G	4: 143,698,343	C177R	probably damaging	Het
Gpr45	A	G	1: 43,033,211	E338G	possibly damaging	Het
Grb14	A	C	2: 64,938,418	L98R	probably damaging	Het
Gucy1a1	T	C	3: 82,118,917	S77G	possibly damaging	Het
Helb	A	G	10: 120,089,485	S996P	probably benign	Het
Huwe1	A	G	X: 151,886,766	E1405G	probably damaging	Het
Ifi47	T	C	11: 49,095,790	I128T	probably benign	Het
Ift140	T	A	17: 25,090,762	Y1089N	probably damaging	Het
Il1r1	A	T	1: 40,302,409	H324L	probably benign	Het
Irx1	C	T	13: 71,959,855	R236H	probably benign	Het
Itpr3	T	C	17: 27,104,556	V1185A	probably benign	Het
Kif19a	T	C	11: 114,785,570	V450A	possibly damaging	Het
Krtap21-1	G	T	16: 89,403,558	Y65*	probably null	Het
Ltn1	A	T	16: 87,379,805	N1704K	possibly damaging	Het
Med1	T	C	11: 98,156,509		probably benign	Het
Meis2	T	A	2: 116,063,323	H36L	probably damaging	Het
Mier2	T	C	10: 79,549,622	N124S	probably damaging	Het
Mmp20	A	G	9: 7,654,170		probably null	Het
Muc4	A	G	16: 32,750,394	T91A	possibly damaging	Het
Myo3b	T	A	2: 70,289,401	V935E	probably benign	Het
Ndufa7	T	C	17: 33,829,658		probably benign	Het
Nipal1	A	G	5: 72,668,062	E366G	possibly damaging	Het
Nobox	A	T	6: 43,305,683	N263K	probably benign	Het
Notch2	A	G	3: 98,111,574	D684G	probably damaging	Het
Olfr1136	T	C	2: 87,693,000	N294S	probably damaging	Het
Olfr1255	T	A	2: 89,817,164	Y273*	probably null	Het
Olfr303	T	C	7: 86,394,535		probably benign	Het
Olfr31	A	G	14: 14,328,789	H226R	probably benign	Het
Olfr494	C	A	7: 108,368,129	T213K	probably damaging	Het
Plau	A	C	14: 20,839,897	D270A	possibly damaging	Het
Pof1b	T	C	X: 112,649,112		probably null	Het
Prtn3	A	T	10: 79,881,933		probably null	Het
Ptges3	T	A	10: 128,068,747	D26E	probably benign	Het
Pxmp2	T	C	5: 110,281,294	E99G	probably benign	Het
Rasgef1a	A	G	6: 118,083,107	R106G	probably benign	Het
Rnf208	T	C	2: 25,243,762	V156A	probably benign	Het
Rps6ka1	A	T	4: 133,871,981	I45N	possibly damaging	Het
Rps6ka4	C	T	19: 6,832,255		probably null	Het
Rsbn1	G	T	3: 103,953,656	C466F	possibly damaging	Het
Shkbp1	A	T	7: 27,342,716	C605S	probably damaging	Het
Slc2a10	G	A	2: 165,518,222	D531N	probably benign	Het
Sox13	A	G	1: 133,389,466	L143P	probably damaging	Het
Stx2	C	T	5: 128,992,221	R142Q	probably damaging	Het
Tanc1	T	A	2: 59,793,087		probably benign	Het
Ttc26	A	C	6: 38,425,162	S530R	probably benign	Het
Tubgcp5	C	T	7: 55,806,607	Q316*	probably null	Het
Ubc	A	G	5: 125,386,229	V678A	probably benign	Het
Unc5d	G	A	8: 28,875,606	T117I	probably damaging	Het
Vmn2r4	T	C	3: 64,406,916	I126V	probably benign	Het
Zfp410	T	A	12: 84,331,820		probably null	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
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
R8054:Cyp2c23	UTSW	19	44007116	missense	probably damaging	0.99
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

Posted On

2015-12-18