Mutagenetix > Incidental Mutation

Incidental Mutation 'R6823:Cyp2a12'

537727

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a12

Ensembl Gene

ENSMUSG00000060407

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 12

Synonyms

MMRRC Submission

044935-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27029081-27037375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27034156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 320 (D320V)

Ref Sequence

ENSEMBL: ENSMUSP00000074990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075552]

AlphaFold

P56593

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075552
AA Change: D320V

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: D320V

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:p450	33	489	7.3e-153	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,754,886 (GRCm38)		probably null	Het
Adgrv1	A	G	13: 81,557,081 (GRCm38)	F1537L	probably damaging	Het
Aggf1	T	C	13: 95,364,723 (GRCm38)	S384G	probably benign	Het
Anxa8	A	T	14: 34,094,765 (GRCm38)	D204V	possibly damaging	Het
Asap3	A	T	4: 136,227,572 (GRCm38)	E71V	possibly damaging	Het
BC024139	T	C	15: 76,119,746 (GRCm38)	*773W	probably null	Het
Bckdhb	T	C	9: 83,953,761 (GRCm38)	V106A	possibly damaging	Het
Cep250	A	G	2: 155,981,459 (GRCm38)	D1010G	probably benign	Het
Chrd	T	A	16: 20,734,736 (GRCm38)	L243Q	probably damaging	Het
Cib2	G	T	9: 54,549,891 (GRCm38)	L30I	possibly damaging	Het
Cpsf7	T	A	19: 10,532,884 (GRCm38)	L113*	probably null	Het
Cubn	T	A	2: 13,445,029 (GRCm38)	I895L	probably benign	Het
Cyp24a1	C	A	2: 170,487,979 (GRCm38)	R351I	probably benign	Het
Dact1	C	G	12: 71,317,939 (GRCm38)	P498R	probably benign	Het
Diaph1	T	A	18: 37,876,383 (GRCm38)		probably null	Het
Dnah7a	A	T	1: 53,456,704 (GRCm38)	I3198N	probably benign	Het
Dopey2	A	T	16: 93,755,485 (GRCm38)	I271F	possibly damaging	Het
Erich3	C	A	3: 154,727,437 (GRCm38)	F349L	probably damaging	Het
Fam187b	G	C	7: 30,989,290 (GRCm38)	V358L	probably benign	Het
Fat4	T	A	3: 38,983,939 (GRCm38)	H3913Q	probably benign	Het
Fbxw7	G	C	3: 84,958,627 (GRCm38)	E118D	probably benign	Het
Fgf1	A	G	18: 38,847,108 (GRCm38)	I71T	probably damaging	Het
Fryl	A	T	5: 73,065,217 (GRCm38)	I2007K	probably damaging	Het
Galnt2	C	G	8: 124,324,011 (GRCm38)	P130A	probably benign	Het
H1fx	G	A	6: 87,981,302 (GRCm38)	R19C	probably damaging	Het
Hmga2	A	C	10: 120,476,024 (GRCm38)	S14A	possibly damaging	Het
Hoxb4	C	T	11: 96,318,654 (GRCm38)		probably benign	Het
Hr	A	T	14: 70,565,374 (GRCm38)	I756F	probably damaging	Het
Hrasls5	A	T	19: 7,639,496 (GRCm38)		probably benign	Het
Hspa1b	A	T	17: 34,958,185 (GRCm38)	S275T	probably benign	Het
Ikbkap	A	G	4: 56,787,939 (GRCm38)	Y331H	probably damaging	Het
Kcnh1	T	C	1: 192,505,289 (GRCm38)	*99R	probably null	Het
Kit	C	A	5: 75,652,649 (GRCm38)	L864I	probably benign	Het
Klk14	A	T	7: 43,694,456 (GRCm38)	K196*	probably null	Het
Lmod1	A	G	1: 135,325,167 (GRCm38)	N53S	probably damaging	Het
Myh13	T	C	11: 67,356,158 (GRCm38)	M1235T	probably benign	Het
Neurl3	T	A	1: 36,268,704 (GRCm38)	K175*	probably null	Het
Nlgn2	T	A	11: 69,825,924 (GRCm38)	K597M	probably damaging	Het
Npdc1	T	C	2: 25,409,109 (GRCm38)	M306T	probably damaging	Het
Obscn	C	T	11: 59,067,943 (GRCm38)		probably null	Het
Olfr404-ps1	T	C	11: 74,239,696 (GRCm38)	L44P	probably damaging	Het
Olfr553	G	A	7: 102,614,486 (GRCm38)	L168F	probably damaging	Het
Olfr913	T	C	9: 38,594,905 (GRCm38)	I228T	possibly damaging	Het
Pbrm1	A	T	14: 31,084,790 (GRCm38)	Y1042F	probably damaging	Het
Pclo	T	A	5: 14,677,907 (GRCm38)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm38)		probably benign	Het
Phf12	C	T	11: 78,022,511 (GRCm38)	Q430*	probably null	Het
Pld3	C	T	7: 27,535,897 (GRCm38)	R302H	probably damaging	Het
Plekha5	T	C	6: 140,525,858 (GRCm38)	S112P	probably benign	Het
Pmfbp1	T	A	8: 109,530,307 (GRCm38)	S548T	possibly damaging	Het
Ppa1	A	T	10: 61,667,603 (GRCm38)	I220F	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,078 (GRCm38)		probably benign	Het
Psmg2	A	T	18: 67,648,857 (GRCm38)	E164D	possibly damaging	Het
Rarb	T	C	14: 16,443,824 (GRCm38)	R155G	probably damaging	Het
Rnf215	T	C	11: 4,136,609 (GRCm38)	L162S	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906 (GRCm38)		probably benign	Het
Rtkn2	G	A	10: 68,026,632 (GRCm38)	V330M	probably damaging	Het
Slc16a4	A	T	3: 107,311,498 (GRCm38)	I472F	probably benign	Het
Snx14	T	C	9: 88,394,382 (GRCm38)	N617D	possibly damaging	Het
Spire2	T	C	8: 123,356,727 (GRCm38)	V150A	probably damaging	Het
Sptbn1	C	A	11: 30,114,787 (GRCm38)	R1904M	probably damaging	Het
Swap70	A	G	7: 110,281,303 (GRCm38)	E575G	possibly damaging	Het
Tbxas1	A	T	6: 38,919,153 (GRCm38)	M1L	possibly damaging	Het
Tenm3	A	T	8: 48,256,837 (GRCm38)	V1688D	probably damaging	Het
Tgfbr3	A	T	5: 107,149,914 (GRCm38)	S207T	probably damaging	Het
Timm44	A	G	8: 4,267,282 (GRCm38)	F248L	probably damaging	Het
Tmem161a	T	C	8: 70,181,199 (GRCm38)	L170P	probably damaging	Het
Tmem63a	A	T	1: 180,960,470 (GRCm38)	Y263F	possibly damaging	Het
Tnfsf9	C	A	17: 57,105,513 (GRCm38)	L28I	probably benign	Het
Tph2	T	A	10: 115,174,106 (GRCm38)	N183I	probably benign	Het
Ttyh1	T	C	7: 4,122,529 (GRCm38)	I60T	probably damaging	Het
Ubn1	T	G	16: 5,064,547 (GRCm38)	S48A	probably damaging	Het
Ubr5	T	C	15: 37,989,598 (GRCm38)	N2019S	probably benign	Het
Wbp2	T	C	11: 116,086,910 (GRCm38)	N6D	probably benign	Het
Wdr59	T	A	8: 111,459,040 (GRCm38)	E810V	possibly damaging	Het
Wiz	T	C	17: 32,360,421 (GRCm38)	D220G	probably damaging	Het
Yipf7	A	G	5: 69,517,070 (GRCm38)	L244P	probably damaging	Het
Zdhhc17	T	C	10: 110,955,111 (GRCm38)	T366A	possibly damaging	Het
Zfp169	A	T	13: 48,490,996 (GRCm38)		probably benign	Het
Zfp707	C	T	15: 75,969,723 (GRCm38)		probably benign	Het
Zfp788	A	G	7: 41,649,560 (GRCm38)	H540R	probably damaging	Het

Other mutations in Cyp2a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Cyp2a12	APN	7	27,036,611 (GRCm38)	missense	probably benign	0.00
IGL02306:Cyp2a12	APN	7	27,032,583 (GRCm38)	missense	probably damaging	1.00
IGL02667:Cyp2a12	APN	7	27,031,158 (GRCm38)	missense	probably damaging	1.00
IGL02943:Cyp2a12	APN	7	27,032,542 (GRCm38)	missense	probably benign	0.07
IGL03025:Cyp2a12	APN	7	27,031,206 (GRCm38)	missense	probably benign	0.00
IGL03230:Cyp2a12	APN	7	27,029,592 (GRCm38)	missense	possibly damaging	0.48
PIT4243001:Cyp2a12	UTSW	7	27,034,773 (GRCm38)	missense	probably benign	0.00
PIT4618001:Cyp2a12	UTSW	7	27,034,773 (GRCm38)	missense	probably benign	0.00
R0655:Cyp2a12	UTSW	7	27,036,621 (GRCm38)	missense	probably benign	0.15
R0659:Cyp2a12	UTSW	7	27,034,138 (GRCm38)	missense	probably damaging	1.00
R0743:Cyp2a12	UTSW	7	27,032,542 (GRCm38)	missense	probably benign	0.07
R0884:Cyp2a12	UTSW	7	27,032,542 (GRCm38)	missense	probably benign	0.07
R2118:Cyp2a12	UTSW	7	27,036,646 (GRCm38)	makesense	probably null
R2119:Cyp2a12	UTSW	7	27,036,646 (GRCm38)	makesense	probably null
R2120:Cyp2a12	UTSW	7	27,036,646 (GRCm38)	makesense	probably null
R2121:Cyp2a12	UTSW	7	27,036,646 (GRCm38)	makesense	probably null
R2122:Cyp2a12	UTSW	7	27,036,646 (GRCm38)	makesense	probably null
R2124:Cyp2a12	UTSW	7	27,036,646 (GRCm38)	makesense	probably null
R2144:Cyp2a12	UTSW	7	27,034,769 (GRCm38)	missense	possibly damaging	0.95
R2153:Cyp2a12	UTSW	7	27,032,617 (GRCm38)	missense	probably benign	0.01
R2171:Cyp2a12	UTSW	7	27,029,632 (GRCm38)	missense	probably damaging	1.00
R2182:Cyp2a12	UTSW	7	27,031,146 (GRCm38)	missense	probably damaging	1.00
R2297:Cyp2a12	UTSW	7	27,034,632 (GRCm38)	missense	possibly damaging	0.92
R4392:Cyp2a12	UTSW	7	27,029,275 (GRCm38)	missense	probably damaging	0.98
R4900:Cyp2a12	UTSW	7	27,031,215 (GRCm38)	nonsense	probably null
R4960:Cyp2a12	UTSW	7	27,034,150 (GRCm38)	missense	probably benign	0.11
R5111:Cyp2a12	UTSW	7	27,036,621 (GRCm38)	missense	possibly damaging	0.89
R5143:Cyp2a12	UTSW	7	27,036,611 (GRCm38)	missense	probably benign	0.00
R5223:Cyp2a12	UTSW	7	27,036,463 (GRCm38)	critical splice acceptor site	probably null
R5268:Cyp2a12	UTSW	7	27,031,218 (GRCm38)	missense	probably benign	0.00
R5493:Cyp2a12	UTSW	7	27,029,125 (GRCm38)	missense	unknown
R5524:Cyp2a12	UTSW	7	27,031,231 (GRCm38)	missense	probably benign	0.00
R5806:Cyp2a12	UTSW	7	27,029,079 (GRCm38)	splice site	probably null
R6320:Cyp2a12	UTSW	7	27,031,152 (GRCm38)	missense	possibly damaging	0.75
R7958:Cyp2a12	UTSW	7	27,029,252 (GRCm38)	missense	probably benign	0.13
R8093:Cyp2a12	UTSW	7	27,036,629 (GRCm38)	missense	probably damaging	0.96
R8191:Cyp2a12	UTSW	7	27,031,104 (GRCm38)	missense	probably benign	0.00
R8259:Cyp2a12	UTSW	7	27,032,658 (GRCm38)	nonsense	probably null
R9083:Cyp2a12	UTSW	7	27,036,519 (GRCm38)	missense	probably damaging	0.99
R9084:Cyp2a12	UTSW	7	27,036,519 (GRCm38)	missense	probably damaging	0.99
R9085:Cyp2a12	UTSW	7	27,036,519 (GRCm38)	missense	probably damaging	0.99
R9086:Cyp2a12	UTSW	7	27,036,519 (GRCm38)	missense	probably damaging	0.99
RF021:Cyp2a12	UTSW	7	27,035,360 (GRCm38)	missense	possibly damaging	0.73
Z1088:Cyp2a12	UTSW	7	27,035,420 (GRCm38)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- GGATGACAAACTGATAGATTTTGGG -3'
(R):5'- CAGCCAGTGGGAAATCAATTTGG -3'

Sequencing Primer
(F):5'- CAAACTGATAGATTTTGGGCTCTCTC -3'
(R):5'- CAGTGGGAAATCAATTTGGGGATGTC -3'

Posted On

2018-10-18