Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Cyp2a22'

422931

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a22

Ensembl Gene

ENSMUSG00000091867

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 22

Synonyms

EG233005

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

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

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26931631-26939384 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26936433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 235 (Q235L)

Ref Sequence

ENSEMBL: ENSMUSP00000128030 (fasta)

Gene Model

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

AlphaFold

B2RXZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000170227
AA Change: Q235L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128030
Gene: ENSMUSG00000091867
AA Change: Q235L

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	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
R5072: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
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'- ATCATGGGGACTTAATGGACCTC -3'
(R):5'- GCTGTTTATTGTAATCCAGCCTCAC -3'

Sequencing Primer
(F):5'- GGGACTTAATGGACCTCTGTTCC -3'
(R):5'- GCCTCACATACATACATTAGTACATG -3'

Posted On

2016-08-04