Mutagenetix > Incidental Mutation

Incidental Mutation 'R2171:Cyp2a12'

237483

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a12

Ensembl Gene

ENSMUSG00000060407

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 12

Synonyms

MMRRC Submission

040173-MU

Accession Numbers

Essential gene?

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

Stock #

R2171 (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 27029632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 83 (Y83C)

Ref Sequence

ENSEMBL: ENSMUSP00000074990 (fasta)

Gene Model

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

AlphaFold

P56593

Predicted Effect

probably damaging
Transcript: ENSMUST00000075552
AA Change: Y83C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: Y83C

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: 99.2%
3x: 98.7%
10x: 97.5%
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
Abt1	A	G	13: 23,422,217	L189P	probably damaging	Het
Adgrl3	C	A	5: 81,512,515	S377*	probably null	Het
Adgrv1	A	G	13: 81,270,918	V5986A	probably damaging	Het
Arv1	T	G	8: 124,728,355	C102W	probably damaging	Het
Asb18	T	C	1: 89,968,697	H207R	probably benign	Het
Bach2	T	C	4: 32,501,662	V13A	probably damaging	Het
Bccip	T	C	7: 133,719,114	S206P	probably benign	Het
Cdhr4	T	C	9: 107,992,918	S41P	probably benign	Het
Chd7	A	G	4: 8,752,424	Y307C	probably damaging	Het
Clec4f	A	T	6: 83,652,864	S237R	possibly damaging	Het
Cntnap5a	A	G	1: 116,188,402	D538G	possibly damaging	Het
Col9a2	T	A	4: 121,045,001	C173*	probably null	Het
Ctr9	T	A	7: 111,046,910	M703K	possibly damaging	Het
Eef1akmt3	A	C	10: 127,032,974	D210E	probably benign	Het
Erbin	A	G	13: 103,834,958	F717L	probably benign	Het
Gtf3a	A	G	5: 146,955,462	N341S	probably benign	Het
Hltf	T	C	3: 20,059,081	V6A	probably damaging	Het
Itga6	T	A	2: 71,820,014	Y135N	probably damaging	Het
Krt73	T	C	15: 101,800,910	Q154R	possibly damaging	Het
Lce1a1	C	T	3: 92,646,741	C142Y	unknown	Het
Lcorl	A	T	5: 45,747,151	I112N	probably damaging	Het
Ltbp1	C	T	17: 75,291,317	H916Y	probably damaging	Het
Lypla2	T	C	4: 135,970,604		probably null	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mmp1a	T	A	9: 7,475,356	D375E	probably damaging	Het
Nlrp14	T	G	7: 107,182,502	L302R	probably damaging	Het
Npy2r	T	G	3: 82,540,401	T243P	possibly damaging	Het
Olfr633	T	C	7: 103,946,785	V73A	probably damaging	Het
Olfr749	A	T	14: 50,736,419	S248T	probably benign	Het
Paqr9	A	T	9: 95,560,878	H307L	probably damaging	Het
Phc3	T	C	3: 30,950,929	T172A	probably damaging	Het
Pigs	A	G	11: 78,328,812	T39A	probably damaging	Het
Pik3c2g	C	T	6: 139,855,286	Q386*	probably null	Het
Pira2	T	C	7: 3,844,418	S91G	probably benign	Het
Plxna2	T	A	1: 194,800,617	N1539K	probably damaging	Het
Poc5	C	T	13: 96,410,749	H507Y	probably damaging	Het
Pou2f1	A	T	1: 165,880,356		probably benign	Het
Pthlh	T	G	6: 147,257,196	K89Q	probably damaging	Het
Rims4	A	T	2: 163,864,126		probably null	Het
Rnf138	A	G	18: 21,026,086	N188D	probably damaging	Het
Rreb1	A	G	13: 37,930,846	D727G	probably benign	Het
Sc5d	T	G	9: 42,255,386	K286Q	probably benign	Het
Slc10a5	C	T	3: 10,335,282	G106D	possibly damaging	Het
Smg6	A	T	11: 75,038,646	Q967L	probably damaging	Het
Spty2d1	C	T	7: 46,994,613	R636H	probably damaging	Het
Srms	A	T	2: 181,208,780	Y195*	probably null	Het
Susd4	A	G	1: 182,892,194	D458G	probably benign	Het
Tecta	T	C	9: 42,358,924	R1363G	probably damaging	Het
Thbs1	G	A	2: 118,122,579	G890D	probably damaging	Het
Tpp2	T	C	1: 43,957,446	V317A	probably benign	Het
Ttpa	T	C	4: 20,021,357	V175A	probably damaging	Het
Vps13b	G	T	15: 35,887,197	D3251Y	probably benign	Het
Vps54	A	G	11: 21,298,810	D441G	probably benign	Het
Zfp738	A	T	13: 67,670,977	Y298*	probably null	Het
Zfp804a	G	A	2: 82,257,183	C452Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,479	K698E	possibly 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
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
R5143:Cyp2a12	UTSW	7	27036611	missense	probably benign	0.00
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
R9083:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
R9084:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
R9085:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
R9086:Cyp2a12	UTSW	7	27036519	missense	probably damaging	0.99
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'- CTGTGGAGCTATTTCAAGTCTTTGGT -3'
(R):5'- CCCCACTAAAGCAAGGACTG -3'

Sequencing Primer
(F):5'- AGCTATTTCAAGTCTTTGGTTTGTTG -3'
(R):5'- AGAATTCTTGGGACTCCTCAGAG -3'

Posted On

2014-10-02