Mutagenetix > Incidental Mutation

Incidental Mutation 'R5993:Cyp2c23'

480973

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c23

Ensembl Gene

ENSMUSG00000025197

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 23

Synonyms

Cyp2c44

MMRRC Submission

044172-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5993 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44005022-44029208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44012360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 362 (Y362H)

Ref Sequence

ENSEMBL: ENSMUSP00000148377 (fasta)

Gene Model

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

AlphaFold

E9Q5K4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026211
AA Change: Y362H

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197
AA Change: Y362H

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: Y362H

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	T	15: 94,338,723	N805K	probably damaging	Het
Add1	A	C	5: 34,601,533	S64R	probably damaging	Het
Akap2	A	G	4: 57,855,273	K444E	possibly damaging	Het
Alas1	A	G	9: 106,234,129	F613L	probably benign	Het
Ankrd17	A	T	5: 90,339,672		probably benign	Het
Anks3	C	T	16: 4,958,137	G67D	probably damaging	Het
Aspm	C	T	1: 139,479,531	T2052I	probably benign	Het
Atp8b4	C	T	2: 126,403,234	V332I	probably benign	Het
Bin2	CGGAGCTGA	C	15: 100,645,020		probably null	Het
Bpifb3	T	A	2: 153,929,314	M382K	probably benign	Het
Ccdc149	C	T	5: 52,402,775	R246Q	probably damaging	Het
Ccdc57	T	C	11: 120,894,724	K462E	possibly damaging	Het
Cux1	T	C	5: 136,363,271	T9A	probably benign	Het
D430041D05Rik	A	G	2: 104,168,067	I998T	probably damaging	Het
Dclre1a	A	C	19: 56,542,737	Y726D	probably damaging	Het
Dnah5	T	C	15: 28,299,226	V1578A	probably benign	Het
Dppa4	C	T	16: 48,289,346	R110*	probably null	Het
Drc7	T	A	8: 95,074,192	V614E	probably benign	Het
Fam71d	C	A	12: 78,715,436	N12K	probably damaging	Het
Gcc1	G	A	6: 28,424,852		probably null	Het
Greb1l	G	A	18: 10,544,455	D1350N	probably benign	Het
Kcnc1	G	A	7: 46,427,532	V253M	probably damaging	Het
Krt78	T	A	15: 101,950,449	I323F	probably damaging	Het
Man2b2	A	G	5: 36,820,980	V320A	probably benign	Het
Mphosph9	A	T	5: 124,316,098	F112Y	probably benign	Het
Mrc1	A	G	2: 14,305,327	T800A	probably damaging	Het
Mroh1	C	A	15: 76,446,680	A1197E	probably damaging	Het
Nlrp10	A	T	7: 108,927,013	H39Q	probably benign	Het
Nop2	C	T	6: 125,144,019	T588I	probably benign	Het
Oxld1	A	G	11: 120,457,009	S121P	probably benign	Het
Prox1	T	A	1: 190,162,239	D3V	probably damaging	Het
Ptk7	T	C	17: 46,565,370	T1052A	probably benign	Het
Rhot2	T	A	17: 25,841,111	T299S	probably benign	Het
Rhov	A	G	2: 119,270,052	F235L	probably damaging	Het
Runx1t1	A	T	4: 13,841,863	R158S	probably damaging	Het
Runx1t1	A	T	4: 13,875,490	E431D	probably benign	Het
Sema3e	A	G	5: 14,224,293	E186G	probably damaging	Het
Sema5b	T	A	16: 35,646,202	L158H	probably damaging	Het
Serpina3j	A	G	12: 104,314,687	T40A	probably benign	Het
Shroom3	A	T	5: 92,940,188	S185C	probably damaging	Het
Skint6	A	T	4: 112,809,079	V1183D	probably benign	Het
Smg1	A	G	7: 118,140,509	V3405A	probably benign	Het
Supt16	C	A	14: 52,178,334	R357L	probably damaging	Het
Thrap3	A	T	4: 126,175,460		probably null	Het
Topaz1	T	C	9: 122,749,039	L338S	probably benign	Het
Ttll3	T	A	6: 113,398,031	Y139*	probably null	Het
Ttn	T	G	2: 76,795,907	D6641A	probably damaging	Het
Wwc1	T	C	11: 35,852,336	D886G	probably benign	Het
Zc3h7a	T	A	16: 11,150,662	K484N	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
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'- TGCCATGTTCTACAAAGCCG -3'
(R):5'- TTGCAAGTATTTCCAGGTCTCC -3'

Sequencing Primer
(F):5'- CAGAGGTAACATAATGTCTGTGGCTC -3'
(R):5'- CTGGGAATACAGGCCTGAGG -3'

Posted On

2017-06-26