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: 0.062) question?

Stock #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26835305-26843548 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26837211 bp (GRCm38)

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
A630095E13Rik	A	G	9: 36,637,202		probably null	Het
Abhd3	G	T	18: 10,704,605	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,572,586	W130*	probably null	Het
Aldh16a1	G	A	7: 45,147,989	R132*	probably null	Het
Amer3	C	T	1: 34,588,962	P761S	probably benign	Het
Amotl1	G	T	9: 14,548,673	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,108,171	F1383S	probably damaging	Het
Casc4	T	C	2: 121,906,761	V261A	probably benign	Het
Col14a1	T	A	15: 55,362,385	V148E	unknown	Het
Col9a2	T	A	4: 121,053,206		probably null	Het
Dcst2	A	T	3: 89,370,518	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,153,131	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,452,700	T511I	probably benign	Het
Exoc6b	T	A	6: 85,011,320	K92*	probably null	Het
Fam181a	T	G	12: 103,316,332	Y165*	probably null	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Fam71d	A	C	12: 78,715,303	D247A	probably damaging	Het
Fbxo34	A	G	14: 47,531,268	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,161,181	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,833,821	F298L	probably benign	Het
Gad1	A	C	2: 70,574,276	D170A	possibly damaging	Het
Golgb1	T	C	16: 36,919,449	S2758P	probably benign	Het
H2afv	A	T	11: 6,429,094		probably null	Het
Ilkap	A	G	1: 91,376,251	C163R		Het
Krt9	A	T	11: 100,188,360	D735E	unknown	Het
Lipo3	A	T	19: 33,582,229	C80*	probably null	Het
Lpcat3	C	T	6: 124,703,580	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,321,719	R24C	unknown	Het
Mafa	T	A	15: 75,747,312	H204L	probably benign	Het
Mapk10	A	C	5: 102,966,607	V305G	probably damaging	Het
Mgat1	T	C	11: 49,261,295	F202L	probably benign	Het
Micalcl	A	T	7: 112,381,196	T126S	probably benign	Het
Mill1	G	A	7: 18,263,102	R206H	probably benign	Het
Nlrc5	A	T	8: 94,476,406	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,551,044	R78L	probably damaging	Het
Olfr1358	G	T	10: 78,520,294	A229S	probably benign	Het
Olfr150	A	T	9: 39,736,991	M59L		Het
Olfr556	A	T	7: 102,670,804	I295F	possibly damaging	Het
Orc6	A	T	8: 85,299,801		probably benign	Het
Pcdhgb5	C	T	18: 37,731,433	Q94*	probably null	Het
Pcnx	A	G	12: 81,950,186	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,913,658	H1135L		Het
Prmt2	A	T	10: 76,225,379	I91N	probably damaging	Het
Ptprm	A	G	17: 66,809,489	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,447,120	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,205,707	T515A	probably benign	Het
Rgmb	G	A	17: 15,821,017	R103*	probably null	Het
Ripk1	T	G	13: 34,026,823	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,601,747	G147S	possibly damaging	Het
Ryr1	T	C	7: 29,015,713	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,747,474	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,463,496	T100A	probably benign	Het
Slc27a6	T	A	18: 58,609,815	M525K	probably damaging	Het
Slco2a1	G	C	9: 103,084,866	C579S	probably damaging	Het
Snx14	A	G	9: 88,381,741	S864P	probably damaging	Het
Sptbn2	T	C	19: 4,750,507	L2250P	probably damaging	Het
Tlr6	A	T	5: 64,954,803	S254T	possibly damaging	Het
Trap1	A	T	16: 4,040,219	Y675*	probably null	Het
Ttc9b	C	A	7: 27,654,087	A54E	probably damaging	Het
Unc45a	A	C	7: 80,325,655	Y934D	probably damaging	Het
Usp17ld	A	G	7: 103,250,972	L251P	possibly damaging	Het
Usp42	A	G	5: 143,717,399	V489A	probably damaging	Het
Vars	A	G	17: 35,016,025	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,478,476	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,412,296	I157F	probably benign	Het
Zfp697	A	G	3: 98,427,866	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,591,668	H826L	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
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
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
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'- TCTGAAGCTAACACCCAGGC -3'
(R):5'- CAGGTTTTGGATTCAGGGACAG -3'

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

Posted On

2022-09-12