Mutagenetix > Incidental Mutation

Incidental Mutation 'R9083:Cyp2a12'

690393

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a12

Ensembl Gene

ENSMUSG00000060407

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 12

Synonyms

MMRRC Submission

068902-MU

Accession Numbers

Essential gene?

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

Stock #

R9083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27029081-27037375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27036519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 451 (F451S)

Ref Sequence

ENSEMBL: ENSMUSP00000074990 (fasta)

Gene Model

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

AlphaFold

P56593

Predicted Effect

probably damaging
Transcript: ENSMUST00000075552
AA Change: F451S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: F451S

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: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,557,561 (GRCm38)	S844R	possibly damaging	Het
Adig	C	A	2: 158,505,789 (GRCm38)		probably benign	Het
Aspm	A	G	1: 139,493,698 (GRCm38)	N3106S	possibly damaging	Het
Bcas1	A	T	2: 170,348,161 (GRCm38)		probably benign	Het
Bco1	A	C	8: 117,117,404 (GRCm38)	I286L	probably benign	Het
Bnc1	C	T	7: 81,974,898 (GRCm38)	V194I	probably benign	Het
Bptf	G	A	11: 107,068,350 (GRCm38)	R1912W	probably damaging	Het
Cacna1a	A	G	8: 84,617,882 (GRCm38)	I1858V	probably benign	Het
Ccdc155	G	A	7: 45,204,634 (GRCm38)	R24C	unknown	Het
Chdh	T	C	14: 30,031,746 (GRCm38)	F204S	probably damaging	Het
Cic	A	G	7: 25,286,045 (GRCm38)	T1212A	probably damaging	Het
Cpne7	C	T	8: 123,130,212 (GRCm38)	P402L	probably damaging	Het
Cts8	A	G	13: 61,249,222 (GRCm38)	Y295H	probably damaging	Het
Cyp1a2	T	C	9: 57,680,289 (GRCm38)	T333A	probably benign	Het
Dmxl2	T	C	9: 54,409,264 (GRCm38)	I1613V	probably benign	Het
Eme1	A	G	11: 94,650,132 (GRCm38)	L260S	probably damaging	Het
Ermp1	A	C	19: 29,646,015 (GRCm38)	S192A	probably benign	Het
Fam186a	T	C	15: 99,945,198 (GRCm38)	Q1055R	probably benign	Het
Fat1	C	T	8: 45,013,090 (GRCm38)	T1462M	possibly damaging	Het
Fat1	A	G	8: 45,038,299 (GRCm38)	N3822S	probably benign	Het
Gm340	G	T	19: 41,586,400 (GRCm38)	R1198L	probably damaging	Het
Gm884	A	C	11: 103,619,004 (GRCm38)	S713A	unknown	Het
Gm973	A	G	1: 59,636,158 (GRCm38)	T225A		Het
Gnl2	A	G	4: 125,047,564 (GRCm38)	Y367C	probably damaging	Het
Golga5	T	A	12: 102,492,217 (GRCm38)	S640T	probably benign	Het
Inafm1	A	G	7: 16,273,271 (GRCm38)	V7A	unknown	Het
Irx2	A	G	13: 72,629,273 (GRCm38)	D71G	possibly damaging	Het
Kif13a	T	C	13: 46,812,787 (GRCm38)	Y448C	probably damaging	Het
Ldlrad4	A	T	18: 68,064,675 (GRCm38)	N10I	probably benign	Het
Lix1	T	C	17: 17,457,130 (GRCm38)	Y196H	possibly damaging	Het
Mon1a	A	G	9: 107,902,636 (GRCm38)	Y468C	probably damaging	Het
Mroh4	A	T	15: 74,626,291 (GRCm38)	I177N	probably damaging	Het
Mterf4	A	T	1: 93,301,793 (GRCm38)	Y236*	probably null	Het
Myo1f	T	A	17: 33,594,062 (GRCm38)	I614N	probably damaging	Het
Nbas	T	A	12: 13,335,855 (GRCm38)	S707T	possibly damaging	Het
Ncl	A	T	1: 86,351,461 (GRCm38)	S577T	possibly damaging	Het
Olfr120	T	A	17: 37,726,169 (GRCm38)	N48K	probably damaging	Het
Olfr146	A	G	9: 39,018,720 (GRCm38)	S274P	probably damaging	Het
Olfr607	T	C	7: 103,460,689 (GRCm38)	D173G		Het
Olfr769	A	T	10: 129,112,023 (GRCm38)	M134K	probably damaging	Het
Olfr822	A	T	10: 130,075,072 (GRCm38)	M221L	probably benign	Het
Olfr822	G	C	10: 130,075,100 (GRCm38)	S230T	probably benign	Het
Olfr829	A	T	9: 18,857,254 (GRCm38)	I201F	probably benign	Het
Padi1	C	A	4: 140,832,291 (GRCm38)		probably null	Het
Patj	G	A	4: 98,513,634 (GRCm38)	V1004M	probably benign	Het
Pcdhb9	A	T	18: 37,402,717 (GRCm38)	D588V	probably damaging	Het
Pdzph1	C	A	17: 58,954,400 (GRCm38)	R879L	possibly damaging	Het
Pla2g2c	G	A	4: 138,736,067 (GRCm38)	V91I	probably benign	Het
Plin4	T	C	17: 56,109,345 (GRCm38)	D53G	possibly damaging	Het
Poll	T	C	19: 45,557,878 (GRCm38)	Q241R	probably benign	Het
Recql5	A	T	11: 115,894,649 (GRCm38)	L674M	possibly damaging	Het
Shroom3	G	A	5: 92,950,674 (GRCm38)	G1338S	probably damaging	Het
Slc38a8	C	T	8: 119,486,041 (GRCm38)	V294I	probably benign	Het
Slc4a1ap	T	C	5: 31,527,113 (GRCm38)	V31A	probably benign	Het
Tln2	G	A	9: 67,362,645 (GRCm38)	P489S	probably damaging	Het
Trappc9	G	A	15: 72,736,777 (GRCm38)	R928*	probably null	Het
Uba7	C	A	9: 107,977,967 (GRCm38)	T343N	probably benign	Het
Vasn	C	T	16: 4,650,007 (GRCm38)	T606I	probably benign	Het
Xrn2	T	A	2: 147,038,279 (GRCm38)	D507E	probably damaging	Het
Zfp592	T	A	7: 81,024,896 (GRCm38)	M536K	possibly damaging	Het
Zfp932	A	T	5: 110,009,234 (GRCm38)	H266L	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
R6823:Cyp2a12	UTSW	7	27,034,156 (GRCm38)	missense	possibly damaging	0.77
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
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'- AACATTGGGGTTCTGAGAGAC -3'
(R):5'- TCTAGCACCACTTCAGGCTC -3'

Sequencing Primer
(F):5'- CTGAGAGACTTAGGAGCCTTTC -3'
(R):5'- ACCACTTCAGGCTCTCCCTC -3'

Posted On

2021-12-30