Mutagenetix > Incidental Mutation

Incidental Mutation 'R7338:Cyp2a5'

569644

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a5

Ensembl Gene

ENSMUSG00000005547

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 5

Synonyms

Coh

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7338 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26835305-26843548 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26842947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 458 (Q458L)

Ref Sequence

ENSEMBL: ENSMUSP00000005685 (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: Q458L

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

SMART Domains

Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: Q458L

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

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 benign
Transcript: ENSMUST00000169007

SMART Domains

Protein: ENSMUSP00000128865
Gene: ENSMUSG00000005547

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,376,743	S357P	possibly damaging	Het
Arhgap28	T	C	17: 67,896,111	R166G	probably damaging	Het
Bcan	T	A	3: 87,994,243	E384V	probably damaging	Het
Bcl9l	A	G	9: 44,508,708	N1137S	probably benign	Het
Caprin1	A	G	2: 103,779,423	L170S	probably benign	Het
Card6	C	T	15: 5,099,872	E681K	probably benign	Het
Catsperb	G	A	12: 101,480,984	V248I	probably benign	Het
Ccnj	T	A	19: 40,837,033	H62Q	probably damaging	Het
Cd180	A	C	13: 102,706,428	I661L	probably benign	Het
Cdk11b	A	G	4: 155,647,551	R473G	unknown	Het
Cep126	T	C	9: 8,099,798	T912A	possibly damaging	Het
Chek2	T	A	5: 110,873,514	V530E	probably benign	Het
Chga	G	T	12: 102,562,841	S359I	probably damaging	Het
Cnrip1	T	C	11: 17,054,657	V69A	probably damaging	Het
Cyp2j11	T	A	4: 96,307,287	T391S	possibly damaging	Het
Dhx16	T	C	17: 35,888,144	L794P	probably damaging	Het
Dscaml1	A	G	9: 45,674,504	T580A	probably benign	Het
Elmo1	A	T	13: 20,280,812	I184L	probably benign	Het
Gabra1	C	T	11: 42,182,294	G51S	unknown	Het
Gabrr3	C	A	16: 59,448,076	L351I	possibly damaging	Het
Gbp7	A	T	3: 142,538,025	N111I	probably damaging	Het
Gjd2	C	T	2: 114,011,102	R298H	probably damaging	Het
Gm5930	T	C	14: 44,336,457	Y141C	probably damaging	Het
Grin3a	G	T	4: 49,771,238	N511K	probably benign	Het
Hdac7	T	C	15: 97,810,022	D122G	probably benign	Het
Ifi204	G	A	1: 173,760,137	T152I	possibly damaging	Het
Lrrc9	C	T	12: 72,463,531		probably null	Het
Med21	T	A	6: 146,642,584		probably benign	Het
Mmp19	A	T	10: 128,799,083	T523S	probably benign	Het
Nav3	G	A	10: 109,769,212	T1000I	probably benign	Het
Nin	T	C	12: 70,044,064	D859G		Het
Nip7	T	G	8: 107,057,284	L52R	possibly damaging	Het
Olfr1039	A	T	2: 86,131,382	F94I	probably damaging	Het
Olfr524	A	T	7: 140,202,533	V79E	probably benign	Het
Olfr934	A	G	9: 38,982,520	Y175H	probably damaging	Het
Otop1	T	A	5: 38,300,203	Y435*	probably null	Het
Pak4	A	G	7: 28,564,956	S174P	probably benign	Het
Pcsk7	G	A	9: 45,925,989	R537Q	probably benign	Het
Podxl	G	A	6: 31,529,006	S34F	unknown	Het
Prr36	G	A	8: 4,216,212	R113C	probably damaging	Het
Ptk7	T	C	17: 46,579,599	I436V	probably benign	Het
Slc13a5	C	T	11: 72,266,484	V28I	probably benign	Het
Slc9a3r2	T	A	17: 24,650,208		probably benign	Het
Slco6d1	A	T	1: 98,421,372	D56V	probably benign	Het
Spg11	G	A	2: 122,055,377	R2317W	probably damaging	Het
Stom	T	A	2: 35,323,748		probably null	Het
Svs5	T	C	2: 164,332,808	L8P	possibly damaging	Het
Tmem141	C	A	2: 25,621,614	V39F	probably damaging	Het
Tmprss6	A	G	15: 78,459,819	L181P	probably damaging	Het
Tnni3	A	G	7: 4,521,380	S40P	probably benign	Het
Tubgcp4	A	G	2: 121,193,984	I548V	probably benign	Het
Twf2	A	G	9: 106,203,939		probably benign	Het
Wnt5b	C	A	6: 119,448,131		probably null	Het
Wrap73	A	G	4: 154,152,586	D210G	probably benign	Het
Yipf4	T	G	17: 74,489,776	S21A	probably benign	Het
Zscan20	A	G	4: 128,588,150	M573T	probably benign	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
R5054:Cyp2a5	UTSW	7	26841104	missense	probably damaging	1.00
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
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'- TACAGCCTGGTGTGGATCAAAAC -3'
(R):5'- TCAACCCCTGACTTGTCTGG -3'

Sequencing Primer
(F):5'- AATGCTCAGGGATTAGAGCTTTCC -3'
(R):5'- GACTTGTCTGGTCTCAATCATTC -3'

Posted On

2019-09-13