Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01642:Cyp2c23'

93710

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 #

IGL01642

Quality Score

Status

Chromosome

Chromosomal Location

43993461-44017647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43993995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 457 (L457Q)

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: L457Q

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

SMART Domains

Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197
AA Change: L457Q

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	G	11: 116,486,514 (GRCm39)	T18A	possibly damaging	Het
Abat	A	T	16: 8,418,783 (GRCm39)	I126F	possibly damaging	Het
Adcy6	G	A	15: 98,492,390 (GRCm39)	A958V	possibly damaging	Het
Ago2	T	C	15: 72,995,239 (GRCm39)	I447V	probably benign	Het
Arid1a	A	G	4: 133,409,155 (GRCm39)	V1784A	unknown	Het
Atp1b1	A	G	1: 164,285,330 (GRCm39)	F33L	probably benign	Het
Bpnt1	G	A	1: 185,086,238 (GRCm39)	V198I	probably benign	Het
Cemip2	T	A	19: 21,801,265 (GRCm39)	I794N	probably damaging	Het
Cfap251	T	C	5: 123,426,761 (GRCm39)	V383A	possibly damaging	Het
Cgas	G	A	9: 78,344,680 (GRCm39)	P247L	probably damaging	Het
Clip3	G	A	7: 29,998,287 (GRCm39)	M244I	probably benign	Het
Clip3	A	T	7: 29,996,494 (GRCm39)		probably benign	Het
Cyp2a22	A	T	7: 26,638,184 (GRCm39)	N107K	possibly damaging	Het
Dbr1	A	G	9: 99,458,031 (GRCm39)	Y17C	probably damaging	Het
Drc7	G	A	8: 95,785,767 (GRCm39)	V208I	probably benign	Het
Dst	T	A	1: 34,228,470 (GRCm39)	L2021Q	probably damaging	Het
E2f4	C	A	8: 106,027,968 (GRCm39)	P299T	probably damaging	Het
Eef1b2	T	C	1: 63,216,990 (GRCm39)	L53P	probably damaging	Het
Enpp3	T	C	10: 24,674,167 (GRCm39)	T378A	probably damaging	Het
Eps15	A	G	4: 109,223,670 (GRCm39)	N302S	probably benign	Het
Esrrg	G	A	1: 187,943,112 (GRCm39)	V362M	probably benign	Het
Gcc2	T	A	10: 58,116,434 (GRCm39)	N1014K	probably benign	Het
Gm3099	T	A	14: 15,346,476 (GRCm39)	M114K	possibly damaging	Het
Gnptab	C	T	10: 88,271,994 (GRCm39)	T928I	possibly damaging	Het
Gpd2	A	T	2: 57,158,083 (GRCm39)	R31*	probably null	Het
Impdh1	T	C	6: 29,207,165 (GRCm39)	T60A	possibly damaging	Het
Kcnab3	A	G	11: 69,221,256 (GRCm39)	E191G	probably benign	Het
Kcnh5	A	G	12: 75,011,943 (GRCm39)	S659P	probably damaging	Het
Kl	T	C	5: 150,904,334 (GRCm39)	I362T	possibly damaging	Het
Kpna4	A	G	3: 68,993,117 (GRCm39)	V414A	probably damaging	Het
Magi1	G	A	6: 93,663,605 (GRCm39)	P1111S	possibly damaging	Het
Myo18a	A	G	11: 77,755,558 (GRCm39)	D1965G	probably benign	Het
Nadsyn1	G	A	7: 143,351,615 (GRCm39)	P673S	probably damaging	Het
Naip2	A	G	13: 100,297,445 (GRCm39)	S864P	probably damaging	Het
Or10ak16	A	G	4: 118,750,658 (GRCm39)	Y126C	probably damaging	Het
Or2d2b	A	T	7: 106,706,029 (GRCm39)	I13N	possibly damaging	Het
Or2f1	G	T	6: 42,721,486 (GRCm39)	V172L	probably benign	Het
Paics	T	A	5: 77,109,357 (GRCm39)		probably benign	Het
Papss1	G	T	3: 131,288,996 (GRCm39)		probably benign	Het
Pax3	A	G	1: 78,173,300 (GRCm39)		probably null	Het
Pgbd5	T	G	8: 125,110,941 (GRCm39)	Q159P	probably benign	Het
Pkd1	A	G	17: 24,800,266 (GRCm39)	Y3009C	probably damaging	Het
Pla2g4d	T	C	2: 120,111,117 (GRCm39)	T161A	probably damaging	Het
Podxl2	T	A	6: 88,820,529 (GRCm39)	Y521F	probably damaging	Het
Pramel34	A	G	5: 93,784,154 (GRCm39)	Y437H	possibly damaging	Het
Prmt2	C	T	10: 76,058,327 (GRCm39)	G161S	probably damaging	Het
Rft1	C	T	14: 30,398,825 (GRCm39)	T265I	probably damaging	Het
Rims2	T	A	15: 39,321,192 (GRCm39)	L736M	probably damaging	Het
Slf1	C	T	13: 77,198,034 (GRCm39)	A747T	probably benign	Het
Snx2	A	G	18: 53,349,519 (GRCm39)	K427E	probably damaging	Het
Tmem131l	A	T	3: 83,845,357 (GRCm39)	D424E	possibly damaging	Het
Tnxb	A	G	17: 34,937,488 (GRCm39)	T3826A	probably damaging	Het
Tpp2	T	C	1: 43,993,813 (GRCm39)	Y233H	probably damaging	Het
Ubl4b	C	A	3: 107,462,147 (GRCm39)	E38*	probably null	Het
Usp5	A	T	6: 124,797,416 (GRCm39)	I486N	probably damaging	Het
Vmn1r193	A	C	13: 22,403,794 (GRCm39)	L66R	probably damaging	Het
Vps13b	T	C	15: 35,792,218 (GRCm39)	I2162T	probably benign	Het
Wipf2	T	C	11: 98,781,650 (GRCm39)	V63A	probably benign	Het
Zfp735	G	T	11: 73,601,305 (GRCm39)	C83F	possibly damaging	Het
Zfyve26	T	C	12: 79,308,348 (GRCm39)		probably null	Het

Other mutations in Cyp2c23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Cyp2c23	APN	19	44,003,512 (GRCm39)	missense	possibly damaging	0.94
IGL01782:Cyp2c23	APN	19	44,017,554 (GRCm39)	missense	possibly damaging	0.77
IGL01843:Cyp2c23	APN	19	43,994,046 (GRCm39)	missense	probably benign	0.02
IGL02902:Cyp2c23	APN	19	44,009,997 (GRCm39)	splice site	probably benign
IGL03382:Cyp2c23	APN	19	44,003,371 (GRCm39)	missense	probably damaging	0.99
R0196:Cyp2c23	UTSW	19	44,000,795 (GRCm39)	missense	probably damaging	0.98
R0735:Cyp2c23	UTSW	19	44,005,249 (GRCm39)	missense	probably damaging	1.00
R1384:Cyp2c23	UTSW	19	44,002,102 (GRCm39)	missense	probably damaging	1.00
R1495:Cyp2c23	UTSW	19	43,993,947 (GRCm39)	missense	probably benign	0.07
R1809:Cyp2c23	UTSW	19	44,009,997 (GRCm39)	splice site	probably benign
R1872:Cyp2c23	UTSW	19	43,993,990 (GRCm39)	nonsense	probably null
R2866:Cyp2c23	UTSW	19	43,993,885 (GRCm39)	missense	probably damaging	1.00
R3801:Cyp2c23	UTSW	19	43,995,478 (GRCm39)	missense	probably benign	0.11
R4234:Cyp2c23	UTSW	19	44,017,604 (GRCm39)	missense	unknown
R4748:Cyp2c23	UTSW	19	44,005,176 (GRCm39)	splice site	probably null
R4948:Cyp2c23	UTSW	19	44,010,138 (GRCm39)	missense	possibly damaging	0.49
R5101:Cyp2c23	UTSW	19	44,017,622 (GRCm39)	missense	unknown
R5420:Cyp2c23	UTSW	19	44,004,103 (GRCm39)	critical splice donor site	probably null
R5770:Cyp2c23	UTSW	19	44,010,018 (GRCm39)	missense	probably damaging	0.99
R5993:Cyp2c23	UTSW	19	44,000,799 (GRCm39)	missense	probably damaging	1.00
R6254:Cyp2c23	UTSW	19	43,993,902 (GRCm39)	missense	probably benign	0.03
R6269:Cyp2c23	UTSW	19	44,017,626 (GRCm39)	start codon destroyed	unknown
R6610:Cyp2c23	UTSW	19	43,995,520 (GRCm39)	missense	probably damaging	1.00
R7344:Cyp2c23	UTSW	19	44,010,176 (GRCm39)	splice site	probably null
R7603:Cyp2c23	UTSW	19	44,003,369 (GRCm39)	missense	probably damaging	1.00
R8054:Cyp2c23	UTSW	19	43,995,555 (GRCm39)	missense	probably damaging	0.99
R8098:Cyp2c23	UTSW	19	44,004,242 (GRCm39)	missense	probably benign	0.29
R8157:Cyp2c23	UTSW	19	44,010,066 (GRCm39)	missense	probably benign	0.00
R8813:Cyp2c23	UTSW	19	44,002,054 (GRCm39)	missense	probably benign	0.07
R9497:Cyp2c23	UTSW	19	44,010,085 (GRCm39)	missense	probably damaging	0.99
X0065:Cyp2c23	UTSW	19	44,017,610 (GRCm39)	missense	unknown

Posted On

2013-12-09