Mutagenetix > Incidental Mutation

Incidental Mutation 'R5420:Cyp2c23'

428025

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c23

Ensembl Gene

ENSMUSG00000025197

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 23

Synonyms

Cyp2c44

MMRRC Submission

042988-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44005022-44029208 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 44015664 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 null
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 null
Transcript: ENSMUST00000211830

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

97% (66/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	TGCGCAGC	T	19: 4,865,344		probably null	Het
Adamts1	A	T	16: 85,799,609	C117*	probably null	Het
Adgrg6	A	T	10: 14,426,986	Y894*	probably null	Het
Akap2	G	A	4: 57,856,062	V505I	probably benign	Het
Akap2	T	A	4: 57,856,434	Y588N	probably damaging	Het
Alas1	G	T	9: 106,234,159	L603I	probably benign	Het
Arhgap21	G	T	2: 20,881,086	R427S	probably damaging	Het
Arhgef25	A	T	10: 127,187,274	V88D	probably benign	Het
BC005561	T	A	5: 104,518,359	I249N	probably damaging	Het
Bdp1	T	C	13: 100,066,043	Q691R	possibly damaging	Het
Bpifa6	T	A	2: 153,989,330	I272N	probably damaging	Het
Cacybp	T	C	1: 160,208,344		probably benign	Het
Capn3	T	C	2: 120,495,296		probably benign	Het
Ccdc47	C	T	11: 106,210,350	R162Q	probably benign	Het
Cideb	A	C	14: 55,758,291	M1R	probably null	Het
Clec16a	G	A	16: 10,731,679	C872Y	probably damaging	Het
Crebbp	C	T	16: 4,107,458	R760H	probably damaging	Het
Cyp3a13	T	G	5: 137,898,981	D357A	probably damaging	Het
Dip2b	C	T	15: 100,205,173		probably benign	Het
Ecm2	A	T	13: 49,527,734	R448S	possibly damaging	Het
Edil3	T	C	13: 89,131,772	Y190H	probably damaging	Het
Eps8l1	T	G	7: 4,470,161		probably null	Het
Eps8l3	A	T	3: 107,883,985	K280*	probably null	Het
Fam184a	A	G	10: 53,633,657	F1137L	probably damaging	Het
Fmn2	A	T	1: 174,698,778	R1388*	probably null	Het
Glt8d2	T	C	10: 82,652,682	K318R	probably benign	Het
Herc2	A	T	7: 56,203,830	K3690I	probably damaging	Het
Ifi206	T	A	1: 173,481,033	I466F	possibly damaging	Het
Jade2	T	C	11: 51,818,607	K525R	probably benign	Het
Kmt2a	A	T	9: 44,848,336	F772I	probably damaging	Het
Lipi	A	G	16: 75,555,869	V360A	possibly damaging	Het
Mbl1	C	T	14: 41,157,196	S108L	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Mrpl23	A	G	7: 142,536,137	T25A	probably damaging	Het
Mto1	T	A	9: 78,452,827	M199K	probably benign	Het
Nes	A	T	3: 87,977,002	N812I	probably damaging	Het
Nfkbie	T	A	17: 45,560,206	D261E	probably benign	Het
Olfr866	T	C	9: 20,027,059	Y293C	probably damaging	Het
Papola	A	G	12: 105,806,495	I114V	possibly damaging	Het
Pappa	T	G	4: 65,335,780		probably null	Het
Pcdh7	T	A	5: 57,720,187	D361E	probably damaging	Het
Pick1	A	G	15: 79,248,840	T367A	probably benign	Het
Plbd2	A	G	5: 120,494,482	Y152H	probably damaging	Het
Ppfia2	A	T	10: 106,835,701	E424D	possibly damaging	Het
Rab7b	C	T	1: 131,698,426	T64I	probably damaging	Het
Rarb	T	A	14: 16,434,249	I310F	possibly damaging	Het
Rdh16f2	C	T	10: 127,877,074	P314S	possibly damaging	Het
Rpain	A	T	11: 70,977,690		probably null	Het
Rufy3	T	C	5: 88,640,659	*488Q	probably null	Het
Sash1	G	A	10: 8,746,186	T398I	probably damaging	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Scrn1	T	A	6: 54,512,063	I358F	probably benign	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Thbs1	G	T	2: 118,113,155	D85Y	possibly damaging	Het
Trp53	T	C	11: 69,588,320		probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r223	A	G	13: 23,249,505	R90G	probably benign	Het
Zfp521	A	T	18: 13,844,087	Y1090N	probably damaging	Het
Zfp677	T	C	17: 21,397,913	C411R	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
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

Predicted Primers

PCR Primer
(F):5'- ACCAGTTGGACCAAGCAGAG -3'
(R):5'- AGAGGCCAGTTCTTGAAATCC -3'

Sequencing Primer
(F):5'- GAGGGCAAACTTCCCCAGTC -3'
(R):5'- GCAGACAACCGATCTCAGTGTTG -3'

Posted On

2016-09-01