Mutagenetix > Incidental Mutation

Incidental Mutation 'R5072:Cyp2a22'

388876

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a22

Ensembl Gene

ENSMUSG00000091867

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 22

Synonyms

EG233005

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26931631-26939384 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26932481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 450 (F450Y)

Ref Sequence

ENSEMBL: ENSMUSP00000128030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170227]

AlphaFold

B2RXZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000170227
AA Change: F450Y

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000128030
Gene: ENSMUSG00000091867
AA Change: F450Y

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:p450	33	489	7.4e-148	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206957

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,853,600	H104Q	probably benign	Het
4933405L10Rik	A	G	8: 105,709,569	T158A	possibly damaging	Het
A1cf	T	C	19: 31,917,985	M156T	probably benign	Het
Abca15	A	G	7: 120,406,975	Y1620C	probably damaging	Het
Abca3	C	T	17: 24,374,300	R224C	probably damaging	Het
Ablim1	A	G	19: 57,073,853		probably null	Het
Acox2	A	T	14: 8,241,374	Y579*	probably null	Het
Adnp	A	T	2: 168,183,001	S791R	probably damaging	Het
Agbl1	A	G	7: 76,421,917	E329G	probably damaging	Het
Alx3	G	T	3: 107,604,793	S249I	possibly damaging	Het
Apob	A	G	12: 8,008,714	T2366A	probably benign	Het
Apool	C	T	X: 112,349,843	Q60*	probably null	Het
Arid4a	T	C	12: 71,045,079	V213A	probably benign	Het
Atp7a	A	G	X: 106,109,768	D1092G	probably benign	Het
Bpifa5	A	T	2: 154,165,972	E178V	probably damaging	Het
Car4	G	A	11: 84,963,367	E47K	probably benign	Het
Catsper1	T	C	19: 5,340,046		probably null	Het
Ccdc63	T	A	5: 122,121,055	Q260L	probably benign	Het
Ccdc83	A	T	7: 90,250,529	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,516,883	V199I	probably benign	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Ces5a	C	T	8: 93,534,668	V44M	probably damaging	Het
Cltc	A	G	11: 86,717,968	I741T	possibly damaging	Het
Cnst	C	A	1: 179,622,886	D638E	possibly damaging	Het
Col13a1	A	G	10: 61,874,018		silent	Het
Cyp2d10	C	T	15: 82,403,753	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,247,663	T123A	probably benign	Het
Ddx20	A	G	3: 105,682,875		probably null	Het
Dnaja3	A	T	16: 4,696,425	T274S	probably damaging	Het
Dot1l	A	G	10: 80,784,646	D514G	possibly damaging	Het
Dysf	A	T	6: 84,137,272	K1226M	probably damaging	Het
Epha4	T	C	1: 77,445,002	Y281C	probably damaging	Het
Fbxo42	T	C	4: 141,198,945	W313R	probably damaging	Het
Fign	A	T	2: 63,979,693	L411*	probably null	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Fryl	G	A	5: 73,074,767	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gprasp2	C	T	X: 135,842,597	T235I	possibly damaging	Het
Gtf2ird1	G	T	5: 134,390,933		probably null	Het
H2afb3	T	C	X: 120,312,846	T84A	probably damaging	Het
Hal	A	T	10: 93,514,042	I555F	probably damaging	Het
Hdac6	A	G	X: 7,944,797	F104L	probably damaging	Homo
Hist2h2ac	C	T	3: 96,220,783		probably benign	Het
Hspg2	T	C	4: 137,540,230	S2050P	probably damaging	Het
Irgc1	T	C	7: 24,432,771	D207G	probably benign	Het
Kif19a	G	A	11: 114,767,227	M37I	probably benign	Het
Kiss1r	C	A	10: 79,918,762	S30*	probably null	Het
Krtap1-4	C	G	11: 99,583,616		probably benign	Het
Lrrfip2	A	G	9: 111,199,804	E365G	probably damaging	Het
Ly75	A	G	2: 60,375,963	Y121H	probably damaging	Het
Man2a1	G	A	17: 64,659,079		probably null	Het
Mkl1	A	G	15: 81,022,426	V91A	probably damaging	Het
Mllt10	C	A	2: 18,109,874	H52N	possibly damaging	Het
Myo1a	T	C	10: 127,707,419		probably null	Het
Myo3b	C	A	2: 70,095,249	T20K	possibly damaging	Het
Nipsnap2	A	T	5: 129,739,580	K62N	probably damaging	Het
Nr1i3	C	T	1: 171,216,813	T169I	probably benign	Het
Numbl	G	A	7: 27,280,990	D466N	probably damaging	Het
Olfr1100	A	T	2: 86,978,322	V158D	possibly damaging	Het
Olfr310	A	G	7: 86,269,591	I66T	probably damaging	Het
Olfr420	A	T	1: 174,158,961	I63F	probably damaging	Het
Olfr639	T	A	7: 104,012,118	R195W	probably damaging	Het
Oprm1	A	G	10: 6,832,550	S398G	probably benign	Het
Pebp1	G	T	5: 117,283,410	D156E	probably benign	Het
Pik3c2g	T	A	6: 139,720,147	C65S	probably null	Het
Pilra	A	G	5: 137,835,412	F131L	probably damaging	Het
Pitrm1	T	C	13: 6,553,190	F91S	probably damaging	Het
Ppl	A	T	16: 5,088,878	S1184R	probably benign	Het
Prmt2	C	T	10: 76,222,556	V140I	probably damaging	Het
Psg29	T	A	7: 17,211,838	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,251,260	N573I	probably damaging	Het
Pygb	C	T	2: 150,801,578	T95M	probably damaging	Het
Rassf9	A	G	10: 102,545,905	K383E	probably damaging	Het
Rfk	T	A	19: 17,398,599	F86I	possibly damaging	Het
Rims2	T	C	15: 39,462,590	F773L	probably benign	Het
Sdcbp	A	G	4: 6,393,019	I218V	probably benign	Het
Slc4a2	G	A	5: 24,438,762	S855N	probably benign	Het
Slc8a2	T	C	7: 16,150,583	L626P	possibly damaging	Het
Snrpd3	G	T	10: 75,519,393	C20F	possibly damaging	Het
Spen	A	T	4: 141,522,302	S58R	unknown	Het
St3gal2	T	C	8: 110,957,718	C3R	possibly damaging	Het
Stab2	A	T	10: 86,863,558	I481N	probably benign	Het
Stat5b	T	C	11: 100,808,535		probably null	Het
Tmco3	G	T	8: 13,292,860	E199*	probably null	Het
Tmem26	A	G	10: 68,775,348	T216A	probably damaging	Het
Ttn	A	G	2: 76,720,478		probably null	Het
Ttn	C	T	2: 76,746,402	V24716I	probably damaging	Het
Ttn	A	T	2: 76,772,365		probably null	Het
Uba5	T	C	9: 104,054,427	E202G	probably damaging	Het
Ufl1	A	G	4: 25,254,780	Y559H	probably benign	Het
Utrn	A	T	10: 12,384,204		probably null	Het
Vmn2r111	C	A	17: 22,548,041	C825F	probably damaging	Het
Vmn2r113	T	A	17: 22,958,355	C704*	probably null	Het
Vmn2r56	A	G	7: 12,694,056	I761T	probably benign	Het
Vmn2r98	C	T	17: 19,066,044	T268I	probably benign	Het
Zfp263	A	G	16: 3,746,840	R240G	possibly damaging	Het
Zfp473	T	A	7: 44,732,519	I797F	probably damaging	Het
Zfp68	A	T	5: 138,606,317	D543E	probably benign	Het

Other mutations in Cyp2a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Cyp2a22	APN	7	26937738	missense	probably benign	0.09
IGL01111:Cyp2a22	APN	7	26936458	missense	probably damaging	1.00
IGL01388:Cyp2a22	APN	7	26937792	missense	probably benign	0.02
IGL01449:Cyp2a22	APN	7	26933553	missense	probably benign	0.01
IGL01642:Cyp2a22	APN	7	26938759	missense	possibly damaging	0.81
IGL02253:Cyp2a22	APN	7	26938237	splice site	probably benign
IGL02327:Cyp2a22	APN	7	26934781	missense	probably damaging	0.99
IGL02673:Cyp2a22	APN	7	26938100	missense	probably benign	0.00
IGL02813:Cyp2a22	APN	7	26936434	missense	probably benign	0.19
IGL02896:Cyp2a22	APN	7	26936461	missense	probably damaging	0.98
IGL03193:Cyp2a22	APN	7	26936421	missense	probably benign	0.00
IGL03350:Cyp2a22	APN	7	26934854	missense	possibly damaging	0.88
R1648:Cyp2a22	UTSW	7	26932368	missense	probably damaging	0.98
R1679:Cyp2a22	UTSW	7	26936311	nonsense	probably null
R1733:Cyp2a22	UTSW	7	26934762	missense	possibly damaging	0.78
R2001:Cyp2a22	UTSW	7	26934772	missense	probably damaging	1.00
R2858:Cyp2a22	UTSW	7	26934262	missense	probably damaging	0.99
R3054:Cyp2a22	UTSW	7	26938829	missense	probably damaging	1.00
R4528:Cyp2a22	UTSW	7	26934769	missense	possibly damaging	0.95
R4623:Cyp2a22	UTSW	7	26933491	missense	probably damaging	1.00
R4669:Cyp2a22	UTSW	7	26937855	missense	possibly damaging	0.88
R4690:Cyp2a22	UTSW	7	26939209	nonsense	probably null
R4840:Cyp2a22	UTSW	7	26932524	missense	probably benign	0.13
R4915:Cyp2a22	UTSW	7	26937770	missense	probably benign	0.33
R5071:Cyp2a22	UTSW	7	26932481	missense	probably benign	0.01
R5074:Cyp2a22	UTSW	7	26932481	missense	probably benign	0.01
R5147:Cyp2a22	UTSW	7	26936325	missense	probably damaging	1.00
R5363:Cyp2a22	UTSW	7	26936433	missense	probably damaging	0.99
R5705:Cyp2a22	UTSW	7	26939215	missense	probably benign	0.05
R6014:Cyp2a22	UTSW	7	26939180	splice site	probably null
R6042:Cyp2a22	UTSW	7	26934239	missense	probably damaging	1.00
R6253:Cyp2a22	UTSW	7	26934232	missense	probably benign	0.18
R6757:Cyp2a22	UTSW	7	26939204	missense	probably benign	0.00
R6994:Cyp2a22	UTSW	7	26939181	critical splice donor site	probably null
R7581:Cyp2a22	UTSW	7	26938148	missense	possibly damaging	0.87
R8212:Cyp2a22	UTSW	7	26937780	missense	possibly damaging	0.89
R9225:Cyp2a22	UTSW	7	26937777	missense	possibly damaging	0.81
R9749:Cyp2a22	UTSW	7	26939290	missense	probably null	0.41

Predicted Primers

PCR Primer
(F):5'- GCACGTGGTCCCTTCTTAAC -3'
(R):5'- GATCCCTCACACTCCACTGTAG -3'

Sequencing Primer
(F):5'- TGGCACCACTTCAGGCTC -3'
(R):5'- TGTAGAAACCCCTTCTCCCTAAGAG -3'

Posted On

2016-06-06