Mutagenetix > Incidental Mutations

Incidental Mutation 'R5143:Cyp2a12'

396520

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a12

Ensembl Gene

ENSMUSG00000060407

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 12

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27029081-27037375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27036611 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 482 (I482V)

Ref Sequence

ENSEMBL: ENSMUSP00000074990 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075552
AA Change: I482V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: I482V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207016

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,739,198		probably null	Het
Abcc2	T	C	19: 43,821,661	I886T	probably benign	Het
Adrb2	T	C	18: 62,178,776	Y326C	probably damaging	Het
AF366264	A	G	8: 13,836,844	S416P	possibly damaging	Het
Aplp1	G	A	7: 30,441,123	R334C	probably damaging	Het
AY358078	T	C	14: 51,802,549	S39P	unknown	Het
Bpifb2	A	T	2: 153,878,504	D61V	probably damaging	Het
Caap1	A	T	4: 94,501,382	N238K	probably damaging	Het
Cfap54	A	G	10: 93,029,158	V726A	possibly damaging	Het
Chrna7	T	C	7: 63,106,147	Y217C	probably damaging	Het
Crocc	T	A	4: 141,041,039	T414S	probably benign	Het
Dnah6	A	T	6: 73,181,761	F620I	possibly damaging	Het
Eogt	A	G	6: 97,125,584	L256P	probably damaging	Het
F5	A	G	1: 164,211,828	I2002M	probably damaging	Het
Foxp1	A	G	6: 98,945,532		probably null	Het
Fut8	A	G	12: 77,365,209	D111G	probably benign	Het
Gm17689	T	A	9: 36,581,904	N41Y	probably benign	Het
Golgb1	C	T	16: 36,898,689	A319V	probably benign	Het
Hoxd3	C	T	2: 74,746,372	R39C	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Olfr690	T	A	7: 105,329,524	I223F	probably damaging	Het
Pcdhb2	A	G	18: 37,296,732	Y586C	probably damaging	Het
Plcd1	G	A	9: 119,074,451	Q442*	probably null	Het
Plppr5	A	G	3: 117,625,903	T207A	probably benign	Het
Pomt1	C	A	2: 32,254,329	A709E	probably benign	Het
Prmt8	A	G	6: 127,732,714	M61T	probably benign	Het
Ptpn23	A	G	9: 110,385,438		probably benign	Het
Sbf2	T	A	7: 110,422,540	K493*	probably null	Het
Tmc2	A	T	2: 130,234,818	S355C	probably damaging	Het
Tonsl	A	G	15: 76,636,657	S399P	possibly damaging	Het
Ttc14	T	C	3: 33,808,901		probably benign	Het
Ttn	A	G	2: 76,738,065	S19168P	probably damaging	Het
Usp17lb	A	T	7: 104,841,478	S80T	probably damaging	Het
Vmn2r96	A	G	17: 18,583,858	I457V	possibly damaging	Het
Wdr64	G	T	1: 175,726,413	D170Y	probably damaging	Het
Zbtb42	T	C	12: 112,679,514	V41A	probably damaging	Het

Other mutations in Cyp2a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Cyp2a12	APN	7	27036611	missense	probably benign	0.00
IGL02306:Cyp2a12	APN	7	27032583	missense	probably damaging	1.00
IGL02667:Cyp2a12	APN	7	27031158	missense	probably damaging	1.00
IGL02943:Cyp2a12	APN	7	27032542	missense	probably benign	0.07
IGL03025:Cyp2a12	APN	7	27031206	missense	probably benign	0.00
IGL03230:Cyp2a12	APN	7	27029592	missense	possibly damaging	0.48
PIT4243001:Cyp2a12	UTSW	7	27034773	missense	probably benign	0.00
PIT4618001:Cyp2a12	UTSW	7	27034773	missense	probably benign	0.00
R0655:Cyp2a12	UTSW	7	27036621	missense	probably benign	0.15
R0659:Cyp2a12	UTSW	7	27034138	missense	probably damaging	1.00
R0743:Cyp2a12	UTSW	7	27032542	missense	probably benign	0.07
R0884:Cyp2a12	UTSW	7	27032542	missense	probably benign	0.07
R2118:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2119:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2120:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2121:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2122:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2124:Cyp2a12	UTSW	7	27036646	makesense	probably null
R2144:Cyp2a12	UTSW	7	27034769	missense	possibly damaging	0.95
R2153:Cyp2a12	UTSW	7	27032617	missense	probably benign	0.01
R2171:Cyp2a12	UTSW	7	27029632	missense	probably damaging	1.00
R2182:Cyp2a12	UTSW	7	27031146	missense	probably damaging	1.00
R2297:Cyp2a12	UTSW	7	27034632	missense	possibly damaging	0.92
R4392:Cyp2a12	UTSW	7	27029275	missense	probably damaging	0.98
R4900:Cyp2a12	UTSW	7	27031215	nonsense	probably null
R4960:Cyp2a12	UTSW	7	27034150	missense	probably benign	0.11
R5111:Cyp2a12	UTSW	7	27036621	missense	possibly damaging	0.89
R5223:Cyp2a12	UTSW	7	27036463	critical splice acceptor site	probably null
R5268:Cyp2a12	UTSW	7	27031218	missense	probably benign	0.00
R5493:Cyp2a12	UTSW	7	27029125	missense	unknown
R5524:Cyp2a12	UTSW	7	27031231	missense	probably benign	0.00
R5806:Cyp2a12	UTSW	7	27029079	splice site	probably null
R6320:Cyp2a12	UTSW	7	27031152	missense	possibly damaging	0.75
R6823:Cyp2a12	UTSW	7	27034156	missense	possibly damaging	0.77
R7958:Cyp2a12	UTSW	7	27029252	missense	probably benign	0.13
R8093:Cyp2a12	UTSW	7	27036629	missense	probably damaging	0.96
R8191:Cyp2a12	UTSW	7	27031104	missense	probably benign	0.00
R8259:Cyp2a12	UTSW	7	27032658	nonsense	probably null
RF021:Cyp2a12	UTSW	7	27035360	missense	possibly damaging	0.73
Z1088:Cyp2a12	UTSW	7	27035420	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- AAGGCATCAGTGAGAGCTGC -3'
(R):5'- TGTTACTGCTGCTCACTGTG -3'

Sequencing Primer
(F):5'- AGTGAGAGCTGCCCCCAC -3'
(R):5'- GTTACTGCTGCTCACTGTGTGTTTC -3'

Posted On

2016-06-21