Mutagenetix > Incidental Mutations

Incidental Mutation 'R7603:Cyp2c23'

588139

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44005022-44029208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44014930 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 269 (D269N)

Ref Sequence

ENSEMBL: ENSMUSP00000026211 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000026211
AA Change: D269N

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

SMART Domains

Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197
AA Change: D269N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211830
AA Change: D269N

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

Meta Mutation Damage Score

0.2556

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	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
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
X0065:Cyp2c23	UTSW	19	44029171	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCCATTATTGGTATGCCTAACG -3'
(R):5'- GGCATTACCCATACTTCCTGTG -3'

Sequencing Primer
(F):5'- TGGTATGCCTAACGTTACTTACAG -3'
(R):5'- GTTTGCTCACTTTCATTTGTAGATG -3'

Posted On

2019-10-24