Mutagenetix > Incidental Mutation

Incidental Mutation 'R2297:Cyp2a12'

245200

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a12

Ensembl Gene

ENSMUSG00000060407

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 12

Synonyms

MMRRC Submission

040296-MU

Accession Numbers

Essential gene?

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

Stock #

R2297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26728515-26736243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26734057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 330 (D330G)

Ref Sequence

ENSEMBL: ENSMUSP00000074990 (fasta)

Gene Model

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

AlphaFold

P56593

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075552
AA Change: D330G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: D330G

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: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	G	A	11: 3,840,127 (GRCm39)	A90V	probably damaging	Het
Aco2	A	T	15: 81,788,109 (GRCm39)	D114V	probably damaging	Het
Cop1	C	T	1: 159,080,124 (GRCm39)	H185Y	possibly damaging	Het
Dcaf6	T	C	1: 165,227,431 (GRCm39)	Y232C	probably damaging	Het
Ddx42	T	G	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dtl	A	G	1: 191,273,207 (GRCm39)	V567A	probably benign	Het
Fem1c	T	C	18: 46,639,228 (GRCm39)	K258R	possibly damaging	Het
Galnt12	T	A	4: 47,113,834 (GRCm39)	V84D	probably damaging	Het
Grm1	T	G	10: 10,956,158 (GRCm39)	D42A	probably benign	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Ncapd3	C	T	9: 26,952,797 (GRCm39)	R109*	probably null	Het
Or5c1	A	G	2: 37,222,155 (GRCm39)	N132S	probably benign	Het
Pimreg	T	C	11: 71,933,906 (GRCm39)	S11P	probably damaging	Het
Ppp1r16b	G	A	2: 158,603,286 (GRCm39)	E404K	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Slc6a11	A	G	6: 114,108,386 (GRCm39)	N50S	probably benign	Het
Stab2	T	A	10: 86,790,338 (GRCm39)		probably null	Het
Tmem132d	T	C	5: 128,345,608 (GRCm39)	T305A	possibly damaging	Het
Tnfrsf13b	A	G	11: 61,038,271 (GRCm39)	T185A	probably benign	Het
Trdn	C	A	10: 33,211,008 (GRCm39)	P400Q	probably damaging	Het
Zfp119b	T	A	17: 56,246,355 (GRCm39)	Y277F	possibly damaging	Het

Other mutations in Cyp2a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Cyp2a12	APN	7	26,736,036 (GRCm39)	missense	probably benign	0.00
IGL02306:Cyp2a12	APN	7	26,732,008 (GRCm39)	missense	probably damaging	1.00
IGL02667:Cyp2a12	APN	7	26,730,583 (GRCm39)	missense	probably damaging	1.00
IGL02943:Cyp2a12	APN	7	26,731,967 (GRCm39)	missense	probably benign	0.07
IGL03025:Cyp2a12	APN	7	26,730,631 (GRCm39)	missense	probably benign	0.00
IGL03230:Cyp2a12	APN	7	26,729,017 (GRCm39)	missense	possibly damaging	0.48
PIT4243001:Cyp2a12	UTSW	7	26,734,198 (GRCm39)	missense	probably benign	0.00
PIT4618001:Cyp2a12	UTSW	7	26,734,198 (GRCm39)	missense	probably benign	0.00
R0655:Cyp2a12	UTSW	7	26,736,046 (GRCm39)	missense	probably benign	0.15
R0659:Cyp2a12	UTSW	7	26,733,563 (GRCm39)	missense	probably damaging	1.00
R0743:Cyp2a12	UTSW	7	26,731,967 (GRCm39)	missense	probably benign	0.07
R0884:Cyp2a12	UTSW	7	26,731,967 (GRCm39)	missense	probably benign	0.07
R2118:Cyp2a12	UTSW	7	26,736,071 (GRCm39)	makesense	probably null
R2119:Cyp2a12	UTSW	7	26,736,071 (GRCm39)	makesense	probably null
R2120:Cyp2a12	UTSW	7	26,736,071 (GRCm39)	makesense	probably null
R2121:Cyp2a12	UTSW	7	26,736,071 (GRCm39)	makesense	probably null
R2122:Cyp2a12	UTSW	7	26,736,071 (GRCm39)	makesense	probably null
R2124:Cyp2a12	UTSW	7	26,736,071 (GRCm39)	makesense	probably null
R2144:Cyp2a12	UTSW	7	26,734,194 (GRCm39)	missense	possibly damaging	0.95
R2153:Cyp2a12	UTSW	7	26,732,042 (GRCm39)	missense	probably benign	0.01
R2171:Cyp2a12	UTSW	7	26,729,057 (GRCm39)	missense	probably damaging	1.00
R2182:Cyp2a12	UTSW	7	26,730,571 (GRCm39)	missense	probably damaging	1.00
R4392:Cyp2a12	UTSW	7	26,728,700 (GRCm39)	missense	probably damaging	0.98
R4900:Cyp2a12	UTSW	7	26,730,640 (GRCm39)	nonsense	probably null
R4960:Cyp2a12	UTSW	7	26,733,575 (GRCm39)	missense	probably benign	0.11
R5111:Cyp2a12	UTSW	7	26,736,046 (GRCm39)	missense	possibly damaging	0.89
R5143:Cyp2a12	UTSW	7	26,736,036 (GRCm39)	missense	probably benign	0.00
R5223:Cyp2a12	UTSW	7	26,735,888 (GRCm39)	critical splice acceptor site	probably null
R5268:Cyp2a12	UTSW	7	26,730,643 (GRCm39)	missense	probably benign	0.00
R5493:Cyp2a12	UTSW	7	26,728,550 (GRCm39)	missense	unknown
R5524:Cyp2a12	UTSW	7	26,730,656 (GRCm39)	missense	probably benign	0.00
R5806:Cyp2a12	UTSW	7	26,728,504 (GRCm39)	splice site	probably null
R6320:Cyp2a12	UTSW	7	26,730,577 (GRCm39)	missense	possibly damaging	0.75
R6823:Cyp2a12	UTSW	7	26,733,581 (GRCm39)	missense	possibly damaging	0.77
R7958:Cyp2a12	UTSW	7	26,728,677 (GRCm39)	missense	probably benign	0.13
R8093:Cyp2a12	UTSW	7	26,736,054 (GRCm39)	missense	probably damaging	0.96
R8191:Cyp2a12	UTSW	7	26,730,529 (GRCm39)	missense	probably benign	0.00
R8259:Cyp2a12	UTSW	7	26,732,083 (GRCm39)	nonsense	probably null
R9083:Cyp2a12	UTSW	7	26,735,944 (GRCm39)	missense	probably damaging	0.99
R9084:Cyp2a12	UTSW	7	26,735,944 (GRCm39)	missense	probably damaging	0.99
R9085:Cyp2a12	UTSW	7	26,735,944 (GRCm39)	missense	probably damaging	0.99
R9086:Cyp2a12	UTSW	7	26,735,944 (GRCm39)	missense	probably damaging	0.99
RF021:Cyp2a12	UTSW	7	26,734,785 (GRCm39)	missense	possibly damaging	0.73
Z1088:Cyp2a12	UTSW	7	26,734,845 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- ATTGATTTCCCACTGGCTGC -3'
(R):5'- GATGTCCATGGCTGTACCTTG -3'

Sequencing Primer
(F):5'- ATGACCCTGCCCAACATTTG -3'
(R):5'- CATGGCTGTACCTTGGGGAG -3'

Posted On

2014-10-30