Mutagenetix > Incidental Mutation

Incidental Mutation 'R6253:Cyp2a22'

506326

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a22

Ensembl Gene

ENSMUSG00000091867

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 22

Synonyms

EG233005

MMRRC Submission

044370-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26631056-26638809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26633657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 351 (Q351L)

Ref Sequence

ENSEMBL: ENSMUSP00000128030 (fasta)

Gene Model

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

AlphaFold

B2RXZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000170227
AA Change: Q351L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128030
Gene: ENSMUSG00000091867
AA Change: Q351L

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,528,929 (GRCm39)	Y151H	possibly damaging	Het
Aasdh	A	G	5: 77,034,105 (GRCm39)	I482T	possibly damaging	Het
Abca3	G	A	17: 24,616,526 (GRCm39)	M989I	probably benign	Het
Acvr2b	C	T	9: 119,257,627 (GRCm39)	P220L	probably damaging	Het
Aqr	T	C	2: 113,986,758 (GRCm39)	D204G	possibly damaging	Het
Arpp19	G	T	9: 74,964,016 (GRCm39)	D123Y	probably damaging	Het
Bod1l	A	G	5: 41,983,881 (GRCm39)	I554T	probably damaging	Het
Bpifa5	A	G	2: 154,005,420 (GRCm39)	M1V	probably null	Het
Cdh3	T	A	8: 107,263,695 (GRCm39)		probably null	Het
Cep170	A	T	1: 176,607,960 (GRCm39)	D165E	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Cog3	A	G	14: 75,957,152 (GRCm39)	L627P	probably damaging	Het
Col23a1	C	T	11: 51,464,995 (GRCm39)	L453F	probably damaging	Het
Ddx4	T	G	13: 112,772,557 (GRCm39)	K77N	probably benign	Het
Ddx4	C	A	13: 112,772,556 (GRCm39)	E78*	probably null	Het
Decr1	A	T	4: 15,931,179 (GRCm39)	N92K	probably benign	Het
Dnm2	T	C	9: 21,411,571 (GRCm39)	L600P	probably damaging	Het
Ece2	A	C	16: 20,457,932 (GRCm39)	N356H	probably damaging	Het
Ern1	A	T	11: 106,317,734 (GRCm39)	I130N	possibly damaging	Het
Fat2	G	A	11: 55,187,097 (GRCm39)	R1250C	probably damaging	Het
Fat4	T	A	3: 39,005,505 (GRCm39)	V1968D	probably damaging	Het
Frmd6	A	G	12: 70,923,987 (GRCm39)	K82E	probably damaging	Het
Gm5431	A	G	11: 48,785,826 (GRCm39)	V183A	probably benign	Het
Golgb1	T	C	16: 36,735,984 (GRCm39)	S1744P	possibly damaging	Het
Hnrnpa3	C	G	2: 75,492,914 (GRCm39)	Q213E	possibly damaging	Het
Hspa1a	A	G	17: 35,189,526 (GRCm39)	F459S	probably damaging	Het
Ice1	A	G	13: 70,751,283 (GRCm39)	L1601P	probably damaging	Het
Igkv19-93	T	A	6: 68,713,323 (GRCm39)	D102V	probably damaging	Het
Kansl1	G	A	11: 104,248,352 (GRCm39)	T534I	probably benign	Het
Lpin2	T	A	17: 71,538,264 (GRCm39)	S303R	probably damaging	Het
Lrpprc	T	A	17: 85,048,065 (GRCm39)	I845F	probably benign	Het
Mdn1	A	G	4: 32,749,593 (GRCm39)	T4259A	probably benign	Het
Mtcl2	T	C	2: 156,863,339 (GRCm39)	S1197G	probably benign	Het
Mtss1	A	G	15: 58,815,568 (GRCm39)	I664T	probably benign	Het
Myh8	A	G	11: 67,192,793 (GRCm39)	E1528G	probably benign	Het
Myo5c	A	T	9: 75,152,319 (GRCm39)	E69V	probably damaging	Het
Myom3	A	T	4: 135,513,203 (GRCm39)	D627V	probably benign	Het
Myom3	A	G	4: 135,528,314 (GRCm39)	N1053S	probably benign	Het
Or10a4	G	A	7: 106,697,464 (GRCm39)	R264H	possibly damaging	Het
Or2d2b	A	T	7: 106,705,145 (GRCm39)	S308T	probably benign	Het
Or6z3	T	C	7: 6,463,547 (GRCm39)	V13A	probably benign	Het
Phactr1	T	A	13: 43,248,247 (GRCm39)	S399T	probably benign	Het
Plch2	T	A	4: 155,091,558 (GRCm39)	Y84F	probably damaging	Het
Ppp1r13b	A	G	12: 111,802,160 (GRCm39)	S278P	probably benign	Het
Prol1	A	G	5: 88,475,736 (GRCm39)	Y42C	probably damaging	Het
Pum2	A	G	12: 8,798,205 (GRCm39)	E906G	probably damaging	Het
Pwwp3a	T	A	10: 80,068,848 (GRCm39)	C331S	probably benign	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rbp4	G	A	19: 38,113,428 (GRCm39)	T30M	probably benign	Het
Selenbp1	T	C	3: 94,851,157 (GRCm39)	L351P	possibly damaging	Het
Serpinb6b	T	C	13: 33,156,255 (GRCm39)	F115S	probably damaging	Het
Tigd3	A	T	19: 5,942,870 (GRCm39)	Y87N	probably damaging	Het
Tigd5	T	A	15: 75,782,871 (GRCm39)	L411H	probably damaging	Het
Ttc3	T	C	16: 94,258,272 (GRCm39)		probably null	Het
Uhmk1	T	C	1: 170,027,449 (GRCm39)	Q416R	probably damaging	Het
Zfand4	T	C	6: 116,250,575 (GRCm39)	F2L	probably damaging	Het
Zfhx3	C	T	8: 109,682,020 (GRCm39)	T3153M	possibly damaging	Het
Zfp697	T	G	3: 98,334,855 (GRCm39)	C207G	possibly damaging	Het
Zfp935	T	C	13: 62,602,685 (GRCm39)	T172A	probably benign	Het
Znrf3	G	T	11: 5,230,865 (GRCm39)	L883I	probably benign	Het

Other mutations in Cyp2a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Cyp2a22	APN	7	26,637,163 (GRCm39)	missense	probably benign	0.09
IGL01111:Cyp2a22	APN	7	26,635,883 (GRCm39)	missense	probably damaging	1.00
IGL01388:Cyp2a22	APN	7	26,637,217 (GRCm39)	missense	probably benign	0.02
IGL01449:Cyp2a22	APN	7	26,632,978 (GRCm39)	missense	probably benign	0.01
IGL01642:Cyp2a22	APN	7	26,638,184 (GRCm39)	missense	possibly damaging	0.81
IGL02253:Cyp2a22	APN	7	26,637,662 (GRCm39)	splice site	probably benign
IGL02327:Cyp2a22	APN	7	26,634,206 (GRCm39)	missense	probably damaging	0.99
IGL02673:Cyp2a22	APN	7	26,637,525 (GRCm39)	missense	probably benign	0.00
IGL02813:Cyp2a22	APN	7	26,635,859 (GRCm39)	missense	probably benign	0.19
IGL02896:Cyp2a22	APN	7	26,635,886 (GRCm39)	missense	probably damaging	0.98
IGL03193:Cyp2a22	APN	7	26,635,846 (GRCm39)	missense	probably benign	0.00
IGL03350:Cyp2a22	APN	7	26,634,279 (GRCm39)	missense	possibly damaging	0.88
R1648:Cyp2a22	UTSW	7	26,631,793 (GRCm39)	missense	probably damaging	0.98
R1679:Cyp2a22	UTSW	7	26,635,736 (GRCm39)	nonsense	probably null
R1733:Cyp2a22	UTSW	7	26,634,187 (GRCm39)	missense	possibly damaging	0.78
R2001:Cyp2a22	UTSW	7	26,634,197 (GRCm39)	missense	probably damaging	1.00
R2858:Cyp2a22	UTSW	7	26,633,687 (GRCm39)	missense	probably damaging	0.99
R3054:Cyp2a22	UTSW	7	26,638,254 (GRCm39)	missense	probably damaging	1.00
R4528:Cyp2a22	UTSW	7	26,634,194 (GRCm39)	missense	possibly damaging	0.95
R4623:Cyp2a22	UTSW	7	26,632,916 (GRCm39)	missense	probably damaging	1.00
R4669:Cyp2a22	UTSW	7	26,637,280 (GRCm39)	missense	possibly damaging	0.88
R4690:Cyp2a22	UTSW	7	26,638,634 (GRCm39)	nonsense	probably null
R4840:Cyp2a22	UTSW	7	26,631,949 (GRCm39)	missense	probably benign	0.13
R4915:Cyp2a22	UTSW	7	26,637,195 (GRCm39)	missense	probably benign	0.33
R5071:Cyp2a22	UTSW	7	26,631,906 (GRCm39)	missense	probably benign	0.01
R5072:Cyp2a22	UTSW	7	26,631,906 (GRCm39)	missense	probably benign	0.01
R5074:Cyp2a22	UTSW	7	26,631,906 (GRCm39)	missense	probably benign	0.01
R5147:Cyp2a22	UTSW	7	26,635,750 (GRCm39)	missense	probably damaging	1.00
R5363:Cyp2a22	UTSW	7	26,635,858 (GRCm39)	missense	probably damaging	0.99
R5705:Cyp2a22	UTSW	7	26,638,640 (GRCm39)	missense	probably benign	0.05
R6014:Cyp2a22	UTSW	7	26,638,605 (GRCm39)	splice site	probably null
R6042:Cyp2a22	UTSW	7	26,633,664 (GRCm39)	missense	probably damaging	1.00
R6757:Cyp2a22	UTSW	7	26,638,629 (GRCm39)	missense	probably benign	0.00
R6994:Cyp2a22	UTSW	7	26,638,606 (GRCm39)	critical splice donor site	probably null
R7581:Cyp2a22	UTSW	7	26,637,573 (GRCm39)	missense	possibly damaging	0.87
R8212:Cyp2a22	UTSW	7	26,637,205 (GRCm39)	missense	possibly damaging	0.89
R9225:Cyp2a22	UTSW	7	26,637,202 (GRCm39)	missense	possibly damaging	0.81
R9749:Cyp2a22	UTSW	7	26,638,715 (GRCm39)	missense	probably null	0.41

Predicted Primers

PCR Primer
(F):5'- CCTGGTGAGGCTGACATAGTAG -3'
(R):5'- GCCTATATGCATGTCACTTACAGAG -3'

Sequencing Primer
(F):5'- AGGCTGACATAGTAGTTGGGG -3'
(R):5'- ACAGAGACATGTACTACATACAGTG -3'

Posted On

2018-03-15