Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Cyp2a5'

724708

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: 0.076) question?

Stock #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26534764-26542689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26536636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 205 (M205K)

Ref Sequence

ENSEMBL: ENSMUSP00000005685 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005685
AA Change: M205K

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: M205K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	G	T	18: 10,704,605 (GRCm39)	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,463,412 (GRCm39)	W130*	probably null	Het
Aldh16a1	G	A	7: 44,797,413 (GRCm39)	R132*	probably null	Het
Amer3	C	T	1: 34,628,043 (GRCm39)	P761S	probably benign	Het
Amotl1	G	T	9: 14,459,969 (GRCm39)	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,035,909 (GRCm39)	F1383S	probably damaging	Het
Col14a1	T	A	15: 55,225,781 (GRCm39)	V148E	unknown	Het
Col9a2	T	A	4: 120,910,403 (GRCm39)		probably null	Het
Dcst2	A	T	3: 89,277,825 (GRCm39)	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,336,901 (GRCm39)	T511I	probably benign	Het
Exoc6b	T	A	6: 84,988,302 (GRCm39)	K92*	probably null	Het
Fam181a	T	G	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbxo34	A	G	14: 47,768,725 (GRCm39)	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,308,994 (GRCm39)	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,661,390 (GRCm39)	F298L	probably benign	Het
Gad1	A	C	2: 70,404,620 (GRCm39)	D170A	possibly damaging	Het
Garin2	A	C	12: 78,762,077 (GRCm39)	D247A	probably damaging	Het
Golgb1	T	C	16: 36,739,811 (GRCm39)	S2758P	probably benign	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
H2az2	A	T	11: 6,379,094 (GRCm39)		probably null	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Krt9	A	T	11: 100,079,186 (GRCm39)	D735E	unknown	Het
Lipo3	A	T	19: 33,559,629 (GRCm39)	C80*	probably null	Het
Lpcat3	C	T	6: 124,680,543 (GRCm39)	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,212,545 (GRCm39)	R24C	unknown	Het
Mafa	T	A	15: 75,619,161 (GRCm39)	H204L	probably benign	Het
Mapk10	A	C	5: 103,114,473 (GRCm39)	V305G	probably damaging	Het
Mgat1	T	C	11: 49,152,122 (GRCm39)	F202L	probably benign	Het
Mical2	A	T	7: 111,980,403 (GRCm39)	T126S	probably benign	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Nlrc5	A	T	8: 95,203,034 (GRCm39)	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,250,469 (GRCm39)	R78L	probably damaging	Het
Or10b1	G	T	10: 78,356,128 (GRCm39)	A229S	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or8g50	A	T	9: 39,648,287 (GRCm39)	M59L		Het
Orc6	A	T	8: 86,026,430 (GRCm39)		probably benign	Het
Pate14	A	G	9: 36,548,498 (GRCm39)		probably null	Het
Pcdhgb5	C	T	18: 37,864,486 (GRCm39)	Q94*	probably null	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,749,519 (GRCm39)	H1135L		Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,036,051 (GRCm39)	T515A	probably benign	Het
Rgmb	G	A	17: 16,041,279 (GRCm39)	R103*	probably null	Het
Ripk1	T	G	13: 34,210,806 (GRCm39)	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,820,721 (GRCm39)	G147S	possibly damaging	Het
Ryr1	T	C	7: 28,715,138 (GRCm39)	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,589,394 (GRCm39)	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Slc27a6	T	A	18: 58,742,887 (GRCm39)	M525K	probably damaging	Het
Slco2a1	G	C	9: 102,962,065 (GRCm39)	C579S	probably damaging	Het
Snx14	A	G	9: 88,263,794 (GRCm39)	S864P	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Tlr6	A	T	5: 65,112,146 (GRCm39)	S254T	possibly damaging	Het
Trap1	A	T	16: 3,858,083 (GRCm39)	Y675*	probably null	Het
Ttc9b	C	A	7: 27,353,512 (GRCm39)	A54E	probably damaging	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Usp17ld	A	G	7: 102,900,179 (GRCm39)	L251P	possibly damaging	Het
Usp42	A	G	5: 143,703,154 (GRCm39)	V489A	probably damaging	Het
Vars1	A	G	17: 35,235,001 (GRCm39)	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,697,450 (GRCm39)	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,061,504 (GRCm39)	I157F	probably benign	Het
Zfp697	A	G	3: 98,335,182 (GRCm39)	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,739,787 (GRCm39)	H826L	probably damaging	Het

Other mutations in Cyp2a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Cyp2a5	APN	7	26,536,528 (GRCm39)	missense	possibly damaging	0.82
IGL01744:Cyp2a5	APN	7	26,540,434 (GRCm39)	missense	probably damaging	1.00
IGL02155:Cyp2a5	APN	7	26,542,471 (GRCm39)	missense	probably benign	0.06
IGL03076:Cyp2a5	APN	7	26,535,299 (GRCm39)	missense	probably damaging	0.99
PIT4696001:Cyp2a5	UTSW	7	26,540,404 (GRCm39)	missense	probably benign	0.18
R0762:Cyp2a5	UTSW	7	26,538,298 (GRCm39)	nonsense	probably null
R0980:Cyp2a5	UTSW	7	26,538,431 (GRCm39)	splice site	probably null
R1078:Cyp2a5	UTSW	7	26,534,966 (GRCm39)	missense	probably benign	0.33
R1511:Cyp2a5	UTSW	7	26,535,361 (GRCm39)	missense	probably damaging	1.00
R1780:Cyp2a5	UTSW	7	26,541,301 (GRCm39)	intron	probably benign
R1803:Cyp2a5	UTSW	7	26,534,971 (GRCm39)	splice site	probably null
R1899:Cyp2a5	UTSW	7	26,538,458 (GRCm39)	nonsense	probably null
R1977:Cyp2a5	UTSW	7	26,535,347 (GRCm39)	missense	probably benign	0.15
R2215:Cyp2a5	UTSW	7	26,539,900 (GRCm39)	missense	probably damaging	1.00
R2258:Cyp2a5	UTSW	7	26,536,528 (GRCm39)	missense	possibly damaging	0.82
R3051:Cyp2a5	UTSW	7	26,542,410 (GRCm39)	missense	possibly damaging	0.77
R3052:Cyp2a5	UTSW	7	26,542,410 (GRCm39)	missense	possibly damaging	0.77
R3053:Cyp2a5	UTSW	7	26,542,410 (GRCm39)	missense	possibly damaging	0.77
R4387:Cyp2a5	UTSW	7	26,540,479 (GRCm39)	missense	probably damaging	0.97
R4832:Cyp2a5	UTSW	7	26,534,970 (GRCm39)	critical splice donor site	probably null
R5054:Cyp2a5	UTSW	7	26,540,529 (GRCm39)	missense	probably damaging	1.00
R5622:Cyp2a5	UTSW	7	26,535,299 (GRCm39)	missense	probably damaging	1.00
R5867:Cyp2a5	UTSW	7	26,542,383 (GRCm39)	missense	probably benign	0.09
R5998:Cyp2a5	UTSW	7	26,536,578 (GRCm39)	missense	probably benign	0.00
R6186:Cyp2a5	UTSW	7	26,542,813 (GRCm39)	unclassified	probably benign
R7338:Cyp2a5	UTSW	7	26,542,372 (GRCm39)	missense	probably damaging	1.00
R7350:Cyp2a5	UTSW	7	26,536,208 (GRCm39)	missense	probably benign	0.37
R7536:Cyp2a5	UTSW	7	26,539,903 (GRCm39)	missense	probably damaging	1.00
R7722:Cyp2a5	UTSW	7	26,536,543 (GRCm39)	missense	probably benign	0.31
R7831:Cyp2a5	UTSW	7	26,534,940 (GRCm39)	missense	possibly damaging	0.71
R7983:Cyp2a5	UTSW	7	26,539,866 (GRCm39)	missense	probably benign	0.40
R8805:Cyp2a5	UTSW	7	26,540,530 (GRCm39)	missense	probably damaging	0.99
R9378:Cyp2a5	UTSW	7	26,539,879 (GRCm39)	missense	probably damaging	1.00
R9481:Cyp2a5	UTSW	7	26,540,511 (GRCm39)	missense	possibly damaging	0.95
Z1088:Cyp2a5	UTSW	7	26,540,532 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp2a5	UTSW	7	26,536,199 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp2a5	UTSW	7	26,534,922 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAAGCTAACACCCAGGC -3'
(R):5'- CAGGTTTTGGATTCAGGGACAG -3'

Sequencing Primer
(F):5'- AACACCCAGGCGATGCTTTTTG -3'
(R):5'- ATTCAGGGACAGCTGTTGAG -3'

Posted On

2022-09-12