Mutagenetix > Incidental Mutation

Incidental Mutation 'R5101:Cyp2c23'

392387

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c23

Ensembl Gene

ENSMUSG00000025197

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 23

Synonyms

Cyp2c44

MMRRC Submission

042852-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43993461-44017647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44017622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2 (E2G)

Ref Sequence

ENSEMBL: ENSMUSP00000148377 (fasta)

Gene Model

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

AlphaFold

E9Q5K4

Predicted Effect

unknown
Transcript: ENSMUST00000026211
AA Change: E2G

SMART Domains

Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197
AA Change: E2G

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

Predicted Effect

unknown
Transcript: ENSMUST00000211830
AA Change: E2G

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (57/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,423,406 (GRCm39)	T10A	possibly damaging	Het
Adgrg3	T	C	8: 95,763,563 (GRCm39)	F288S	probably benign	Het
Ago2	A	G	15: 72,991,339 (GRCm39)	V533A	probably damaging	Het
Akap9	T	G	5: 4,051,748 (GRCm39)	V1505G	probably damaging	Het
Apob	T	C	12: 8,061,934 (GRCm39)	I3439T	probably benign	Het
C1qtnf7	T	A	5: 43,773,314 (GRCm39)	Y204*	probably null	Het
Cdc42bpb	T	C	12: 111,265,549 (GRCm39)	E1461G	probably damaging	Het
Cdh3	C	T	8: 107,268,024 (GRCm39)	A353V	possibly damaging	Het
Clec4d	A	G	6: 123,244,071 (GRCm39)	Y60C	probably damaging	Het
Cmya5	T	A	13: 93,228,111 (GRCm39)	T2326S	possibly damaging	Het
Cnot1	G	A	8: 96,486,815 (GRCm39)	L631F	possibly damaging	Het
Cntnap5a	C	T	1: 116,370,026 (GRCm39)	T881I	probably benign	Het
Col6a1	T	A	10: 76,545,740 (GRCm39)	T911S	unknown	Het
Ctsw	A	G	19: 5,515,703 (GRCm39)	V287A	probably benign	Het
Cytip	A	T	2: 58,037,911 (GRCm39)	I151N	probably damaging	Het
Dnah10	A	G	5: 124,909,577 (GRCm39)	T4399A	possibly damaging	Het
Dock3	A	T	9: 106,846,980 (GRCm39)	I883N	probably damaging	Het
Entpd3	A	G	9: 120,395,608 (GRCm39)	*530W	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gp1ba	G	A	11: 70,532,225 (GRCm39)	V664M	probably benign	Het
Gpd2	T	A	2: 57,245,913 (GRCm39)	I481N	probably damaging	Het
Gvin-ps5	T	C	7: 105,929,096 (GRCm39)		noncoding transcript	Het
Ildr2	A	G	1: 166,135,331 (GRCm39)	D342G	probably damaging	Het
Krt87	A	G	15: 101,385,391 (GRCm39)	I327T	probably benign	Het
Lats1	T	A	10: 7,588,348 (GRCm39)	C988*	probably null	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Mast4	T	C	13: 102,872,864 (GRCm39)	D2168G	probably benign	Het
Myo6	G	T	9: 80,177,321 (GRCm39)	E606*	probably null	Het
Nek7	A	G	1: 138,443,431 (GRCm39)	V174A	probably benign	Het
Nid1	T	A	13: 13,658,339 (GRCm39)	C695S	probably damaging	Het
Nme8	A	G	13: 19,875,017 (GRCm39)		probably null	Het
Nr2c2	T	C	6: 92,131,497 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2ag18	A	T	7: 106,405,420 (GRCm39)	I83K	possibly damaging	Het
Or4x11	A	G	2: 89,867,391 (GRCm39)	M43V	probably benign	Het
Or51ab3	G	A	7: 103,201,150 (GRCm39)	E53K	probably damaging	Het
Or9g19	A	G	2: 85,600,268 (GRCm39)	N41S	probably damaging	Het
Pms2	A	G	5: 143,865,006 (GRCm39)	D696G	probably damaging	Het
Psapl1	T	A	5: 36,361,494 (GRCm39)	C29S	probably damaging	Het
Scn3a	A	T	2: 65,291,850 (GRCm39)	V1632D	probably damaging	Het
Slc22a1	C	T	17: 12,886,129 (GRCm39)	G168D	probably damaging	Het
Smad4	A	G	18: 73,808,931 (GRCm39)	V112A	probably benign	Het
Smc4	T	C	3: 68,935,845 (GRCm39)	V796A	probably benign	Het
Smco4	A	G	9: 15,455,968 (GRCm39)	E18G	unknown	Het
Spata31e2	T	C	1: 26,722,417 (GRCm39)	E921G	possibly damaging	Het
Sugp2	A	G	8: 70,713,139 (GRCm39)	E1035G	probably damaging	Het
Syde2	T	C	3: 145,721,393 (GRCm39)	S820P	probably damaging	Het
Syn2	T	C	6: 115,240,860 (GRCm39)	L410P	probably damaging	Het
Tmem131l	T	C	3: 83,844,811 (GRCm39)	N466S	probably damaging	Het
Uba1y	T	G	Y: 821,447 (GRCm39)		probably null	Het
Unc79	T	C	12: 103,078,769 (GRCm39)	S1645P	probably damaging	Het
Vmn2r17	A	T	5: 109,576,217 (GRCm39)	S363C	probably damaging	Het
Vmn2r78	T	C	7: 86,571,563 (GRCm39)	Y458H	probably damaging	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
IGL01642:Cyp2c23	APN	19	43,993,995 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTACCTAACCTGGAAGC -3'
(R):5'- TGATCTCAGGCTCCAGCAAAC -3'

Sequencing Primer
(F):5'- CCTTACCTTGGAAAGCGATGCAG -3'
(R):5'- TCAGGCTCCAGCAAACAAACTC -3'

Posted On

2016-06-15