Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4696001:Cyp2a5'

556787

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a5

Ensembl Gene

ENSMUSG00000005547

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 5

Synonyms

Coh

Accession Numbers

Essential gene?

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

Stock #

PIT4696001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26835305-26843548 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26840979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 339 (R339Q)

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 benign
Transcript: ENSMUST00000005685
AA Change: R339Q

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000005685
Gene: ENSMUSG00000005547
AA Change: R339Q

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
AA Change: R26Q

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128865
Gene: ENSMUSG00000005547
AA Change: R26Q

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000127829
Gene: ENSMUSG00000005547
AA Change: R12Q

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

Coding Region Coverage

1x: 93.5%
3x: 91.0%
10x: 86.2%
20x: 75.9%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,784,986		probably null	Het
Adam20	T	A	8: 40,794,948	Y32N	probably benign	Het
Adm	T	C	7: 110,628,289	V4A	probably benign	Het
Anpep	G	A	7: 79,839,464	T320I	possibly damaging	Het
Atp8b1	T	C	18: 64,539,270	S1008G	possibly damaging	Het
B9d1	T	A	11: 61,505,243	M12K	possibly damaging	Het
Cad	T	C	5: 31,072,094	L1435P	probably damaging	Het
Cat	T	C	2: 103,471,812	D180G	probably damaging	Het
Cntln	C	T	4: 84,974,000	T374M	probably damaging	Het
Defa22	T	C	8: 21,162,336	L6P	probably damaging	Het
Dr1	T	A	5: 108,269,738	I50K	probably damaging	Het
Eln	C	T	5: 134,737,178	G57E	unknown	Het
Fat4	T	C	3: 38,889,004	I682T	probably benign	Het
Fat4	C	A	3: 38,982,357	A3386E	probably damaging	Het
Fcgr3	T	A	1: 171,057,750	Y102F	probably damaging	Het
Gm5930	A	T	14: 44,336,536	L115M	probably damaging	Het
Herc1	T	A	9: 66,479,009	V3748D	probably damaging	Het
Ino80d	A	G	1: 63,085,986	S106P	probably benign	Het
Kcns3	C	T	12: 11,092,748		probably benign	Het
Kndc1	T	A	7: 139,932,917	L1527Q	probably damaging	Het
Lepr	T	G	4: 101,779,983	S690A	probably benign	Het
Lrfn5	T	C	12: 61,843,557	F544S	probably damaging	Het
Mapkap1	C	A	2: 34,619,849	H450Q	probably damaging	Het
Mdm1	A	G	10: 118,158,540	T485A	probably benign	Het
Megf10	T	C	18: 57,277,688	C690R	probably damaging	Het
Myo7a	A	G	7: 98,063,599	M1723T	probably benign	Het
Nrip3	A	T	7: 109,765,507	C137*	probably null	Het
Olfr153	T	A	2: 87,532,780	I249N	probably damaging	Het
Pde4a	T	A	9: 21,211,001	M731K	probably benign	Het
Pebp1	A	G	5: 117,283,462	L117P	probably damaging	Het
Phc2	T	C	4: 128,705,202	Y51H	probably damaging	Het
Ppp2r5b	A	G	19: 6,234,683	F50S	probably benign	Het
Prpf4b	A	G	13: 34,899,842	S865G	probably benign	Het
Ptpn5	C	T	7: 47,088,606	V243M	probably benign	Het
Rora	T	C	9: 69,364,559	L273P	possibly damaging	Het
Rtp4	T	A	16: 23,613,454	S245R	probably benign	Het
Scgb2b20	C	T	7: 33,364,560	G95D	probably benign	Het
Sec24b	A	G	3: 129,994,391	V820A	probably benign	Het
Sim2	A	G	16: 94,094,309	D62G	possibly damaging	Het
Slc17a4	A	T	13: 23,900,514	V429D	probably benign	Het
Sp2	T	C	11: 96,961,973	T42A	probably damaging	Het
Spata3	G	A	1: 86,024,447	R141Q	unknown	Het
Sptbn2	A	T	19: 4,745,577	E1658D	probably benign	Het
Tcaf1	T	C	6: 42,678,539	H501R	probably benign	Het
Tec	G	A	5: 72,773,835	T262M	possibly damaging	Het
Timm9	A	T	12: 71,125,531	N22K	possibly damaging	Het
Tln1	C	T	4: 43,542,701		probably null	Het
Tmbim4	A	G	10: 120,217,624	I109M	probably benign	Het
Tmc7	T	C	7: 118,564,343	K110E	probably benign	Het
Tmem107	C	T	11: 69,072,573	P136L	probably benign	Het
Ttc21b	T	C	2: 66,231,219		probably null	Het
Ubd	A	C	17: 37,195,444	T74P	probably damaging	Het
Vps11	A	G	9: 44,358,189	V255A	possibly damaging	Het
Vsnl1	T	C	12: 11,326,447	T146A	probably benign	Het
Wdr38	G	T	2: 38,999,972		probably null	Het
Yes1	T	A	5: 32,684,625	S498T	possibly damaging	Het
Zc3h13	G	A	14: 75,331,883	R1390H	probably damaging	Het
Zscan4b	A	G	7: 10,902,022	V126A	possibly 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
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
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'- GCAGTTTCACCAATGCATGATTTG -3'
(R):5'- CTGGGTGGACTCTAATGAGGAG -3'

Sequencing Primer
(F):5'- GCATGTTGTGAAAATGATCTACAATG -3'
(R):5'- AAGGTCCTAGAGGCCCATG -3'

Posted On

2019-06-07