Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Cyp2a5'

390705

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a5

Ensembl Gene

ENSMUSG00000005547

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 5

Synonyms

Coh

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26835305-26843548 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 26841104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 68 (R68G)

Ref Sequence

ENSEMBL: ENSMUSP00000128865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005685] [ENSMUST00000168869] [ENSMUST00000169007]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000005685
AA Change: R381G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: R381G

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:p450	34	491	4e-151	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165641

Predicted Effect

probably benign
Transcript: ENSMUST00000168869

SMART Domains

Protein: ENSMUSP00000130640
Gene: ENSMUSG00000005547

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
PDB:2PG7\|D	25	60	9e-14	PDB
SCOP:d1jpza_	30	60	6e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169007
AA Change: R68G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128865
Gene: ENSMUSG00000005547
AA Change: R68G

Domain	Start	End	E-Value	Type
Pfam:p450	1	116	1.1e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170631

SMART Domains

Protein: ENSMUSP00000127829
Gene: ENSMUSG00000005547

Domain	Start	End	E-Value	Type
Pfam:p450	1	59	2.9e-20	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

MGI Phenotype

PHENOTYPE: Mice exhibit strain-specific cytochrome activity levels. Mice homozygous for a knock-out allele exhibit slower clearance of nicotine and cotinine. [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
4921517D22Rik	A	G	13: 59,689,501	Y257H	probably damaging	Het
Adam28	C	T	14: 68,617,715	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 27,101,720	E627K	probably damaging	Het
Atad5	T	A	11: 80,094,676	S196R	probably benign	Het
Bcam	T	A	7: 19,756,860		probably benign	Het
Birc6	A	G	17: 74,655,325	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,838,212	I190V	probably benign	Het
Ccdc8	T	C	7: 16,995,045	V153A	probably damaging	Het
Dock3	T	C	9: 106,937,906	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,661,159	V271L	possibly damaging	Het
Eif2s2	A	C	2: 154,892,670		probably null	Het
Fndc7	A	G	3: 108,881,347	S193P	probably damaging	Het
Fzr1	G	A	10: 81,371,419		probably benign	Het
Gm17472	T	C	6: 42,981,004	I69T	probably damaging	Het
Gm5039	T	C	12: 88,321,301	I61V	probably benign	Het
Gmppa	C	A	1: 75,439,371	Y137*	probably null	Het
Gpr45	A	G	1: 43,032,649	I151V	probably benign	Het
H1f0	G	A	15: 79,028,773	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,841,856	V114I	probably benign	Het
Impa2	C	A	18: 67,306,727	P98Q	probably damaging	Het
Kazn	T	C	4: 142,108,646	N573D	unknown	Het
Kcna2	A	T	3: 107,104,340	D79V	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kif13a	A	G	13: 46,802,646	Y561H	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra1	T	A	6: 130,375,284	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,680,042	R318S	probably damaging	Het
Mgat4d	G	A	8: 83,368,208		probably null	Het
Mtor	T	A	4: 148,556,855		probably null	Het
Nostrin	A	T	2: 69,175,713	Q247L	possibly damaging	Het
Obscn	T	C	11: 59,073,617	E3033G	probably damaging	Het
Pam	C	A	1: 97,821,917	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,637,814	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptar1	G	T	19: 23,694,365	R44L	probably damaging	Het
Rad51c	T	C	11: 87,397,754	H201R	probably benign	Het
Rims2	A	T	15: 39,517,869		probably null	Het
Rnf219	C	T	14: 104,508,030	G70E	probably damaging	Het
Rpl22l1	T	G	3: 28,806,836	S67A	possibly damaging	Het
Rps10	A	G	17: 27,630,480	S143P	probably damaging	Het
Rundc1	T	C	11: 101,425,141	V13A	probably benign	Het
Sephs2	C	A	7: 127,273,392	M176I	probably benign	Het
Serpina16	C	T	12: 103,674,930	V179I	probably benign	Het
Serpini2	T	A	3: 75,259,477	T158S	probably damaging	Het
Slc12a3	A	G	8: 94,346,351	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,814,602	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,430,917		probably benign	Het
Tbr1	A	T	2: 61,806,002	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,270,082		probably null	Het
Tlr12	T	A	4: 128,617,270	K396*	probably null	Het
Tmppe	A	G	9: 114,405,958	I442V	probably benign	Het
Tubb3	T	C	8: 123,420,868	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,232,731	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,451,446	V482L	possibly damaging	Het
Zfp184	G	T	13: 21,959,282	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,189,793	V270E	probably damaging	Het
Zfp985	A	T	4: 147,582,981	Y102F	probably damaging	Het

Other mutations in Cyp2a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Cyp2a5	APN	7	26837103	missense	possibly damaging	0.82
IGL01744:Cyp2a5	APN	7	26841009	missense	probably damaging	1.00
IGL02155:Cyp2a5	APN	7	26843046	missense	probably benign	0.06
IGL03076:Cyp2a5	APN	7	26835874	missense	probably damaging	0.99
PIT4696001:Cyp2a5	UTSW	7	26840979	missense	probably benign	0.18
R0762:Cyp2a5	UTSW	7	26838873	nonsense	probably null
R0980:Cyp2a5	UTSW	7	26839006	splice site	probably null
R1078:Cyp2a5	UTSW	7	26835541	missense	probably benign	0.33
R1511:Cyp2a5	UTSW	7	26835936	missense	probably damaging	1.00
R1780:Cyp2a5	UTSW	7	26841876	intron	probably benign
R1803:Cyp2a5	UTSW	7	26835546	splice site	probably null
R1899:Cyp2a5	UTSW	7	26839033	nonsense	probably null
R1977:Cyp2a5	UTSW	7	26835922	missense	probably benign	0.15
R2215:Cyp2a5	UTSW	7	26840475	missense	probably damaging	1.00
R2258:Cyp2a5	UTSW	7	26837103	missense	possibly damaging	0.82
R3051:Cyp2a5	UTSW	7	26842985	missense	possibly damaging	0.77
R3052:Cyp2a5	UTSW	7	26842985	missense	possibly damaging	0.77
R3053:Cyp2a5	UTSW	7	26842985	missense	possibly damaging	0.77
R4387:Cyp2a5	UTSW	7	26841054	missense	probably damaging	0.97
R4832:Cyp2a5	UTSW	7	26835545	critical splice donor site	probably null
R5622:Cyp2a5	UTSW	7	26835874	missense	probably damaging	1.00
R5867:Cyp2a5	UTSW	7	26842958	missense	probably benign	0.09
R5998:Cyp2a5	UTSW	7	26837153	missense	probably benign	0.00
R6186:Cyp2a5	UTSW	7	26843388	unclassified	probably benign
R7338:Cyp2a5	UTSW	7	26842947	missense	probably damaging	1.00
R7350:Cyp2a5	UTSW	7	26836783	missense	probably benign	0.37
R7536:Cyp2a5	UTSW	7	26840478	missense	probably damaging	1.00
R7722:Cyp2a5	UTSW	7	26837118	missense	probably benign	0.31
R7831:Cyp2a5	UTSW	7	26835515	missense	possibly damaging	0.71
R7983:Cyp2a5	UTSW	7	26840441	missense	probably benign	0.40
R8805:Cyp2a5	UTSW	7	26841105	missense	probably damaging	0.99
R9378:Cyp2a5	UTSW	7	26840454	missense	probably damaging	1.00
R9481:Cyp2a5	UTSW	7	26841086	missense	possibly damaging	0.95
R9620:Cyp2a5	UTSW	7	26837211	missense	possibly damaging	0.75
Z1088:Cyp2a5	UTSW	7	26841107	missense	probably damaging	1.00
Z1176:Cyp2a5	UTSW	7	26835497	missense	probably damaging	1.00
Z1176:Cyp2a5	UTSW	7	26836774	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCAGCCAAGGTCCATGAG -3'
(R):5'- GCATGGAGTTAAAATTCCTGGGTG -3'

Sequencing Primer
(F):5'- CCAAGGTCCATGAGGAGATTGATC -3'
(R):5'- TAAAATTCCTGGGTGGGAAAGTCTC -3'

Posted On

2016-06-06