Mutagenetix > Incidental Mutation

Incidental Mutation 'R2124:Cyp2a12'

229659

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a12

Ensembl Gene

ENSMUSG00000060407

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 12

Synonyms

MMRRC Submission

040127-MU

Accession Numbers

Essential gene?

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

Stock #

R2124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26728515-26736243 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 26736071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 493 (*493W)

Ref Sequence

ENSEMBL: ENSMUSP00000074990 (fasta)

Gene Model

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

AlphaFold

P56593

Predicted Effect

probably null
Transcript: ENSMUST00000075552
AA Change: *493W

SMART Domains

Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: *493W

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

Meta Mutation Damage Score

0.8636

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adgrg6	T	C	10: 14,342,930 (GRCm39)	D339G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap3	A	C	18: 38,106,403 (GRCm39)	L1480R	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Aspg	G	A	12: 112,087,608 (GRCm39)	V8I	probably benign	Het
Aven	T	A	2: 112,455,541 (GRCm39)	W26R	probably damaging	Het
Car4	T	A	11: 84,854,911 (GRCm39)		probably benign	Het
Cd163	C	T	6: 124,295,815 (GRCm39)	R720C	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cdh3	A	T	8: 107,279,520 (GRCm39)	H712L	probably damaging	Het
Cdr2	T	C	7: 120,581,250 (GRCm39)	E9G	probably damaging	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Chrnb2	T	C	3: 89,676,648 (GRCm39)		probably benign	Het
Col4a2	C	A	8: 11,466,070 (GRCm39)	P443Q	probably damaging	Het
Ddias	T	C	7: 92,507,464 (GRCm39)	Q817R	probably benign	Het
Ddx6	C	T	9: 44,535,816 (GRCm39)	Q182*	probably null	Het
Dhrs7	A	G	12: 72,699,951 (GRCm39)	I227T	probably damaging	Het
Dhx8	A	T	11: 101,653,071 (GRCm39)	M970L	probably damaging	Het
Dnah7a	A	T	1: 53,536,101 (GRCm39)	D2647E	possibly damaging	Het
Dstyk	G	A	1: 132,380,857 (GRCm39)	G451R	possibly damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Efl1	C	T	7: 82,342,121 (GRCm39)	R510C	probably damaging	Het
Eif4g3	A	G	4: 137,912,053 (GRCm39)	E1409G	probably damaging	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fcgbp	T	C	7: 27,791,444 (GRCm39)	Y902H	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gbp9	T	A	5: 105,242,409 (GRCm39)	D110V	probably damaging	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Gm10542	T	A	18: 44,334,355 (GRCm39)	W9R	probably null	Het
Gpaa1	A	G	15: 76,217,552 (GRCm39)	Y330C	probably damaging	Het
Hectd4	T	C	5: 121,456,702 (GRCm39)	L689P	probably damaging	Het
Hoxd3	C	A	2: 74,574,578 (GRCm39)	P75T	possibly damaging	Het
Ikbkb	A	G	8: 23,156,036 (GRCm39)	L570P	probably damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Kidins220	G	A	12: 25,091,302 (GRCm39)		probably null	Het
Kif1b	T	C	4: 149,306,753 (GRCm39)	D869G	probably benign	Het
Loxl2	T	C	14: 69,929,859 (GRCm39)	Y746H	probably benign	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Msantd2	C	T	9: 37,434,227 (GRCm39)	R357W	probably damaging	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Or7e173	T	G	9: 19,938,797 (GRCm39)	I146L	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,537,297 (GRCm39)	V1716A	probably benign	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Rims1	T	A	1: 22,474,732 (GRCm39)	R200*	probably null	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Sall3	C	T	18: 81,015,012 (GRCm39)	G972D	probably benign	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sdk1	C	A	5: 142,170,943 (GRCm39)	D1935E	possibly damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Syt16	T	A	12: 74,285,009 (GRCm39)	S401T	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tbcd	A	G	11: 121,494,146 (GRCm39)	Y983C	probably damaging	Het
Tenm3	A	G	8: 48,870,041 (GRCm39)		probably null	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Top2a	T	C	11: 98,895,054 (GRCm39)	I849V	probably benign	Het
Ttn	A	G	2: 76,624,792 (GRCm39)	V13516A	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vmn2r84	A	C	10: 130,227,100 (GRCm39)	M246R	probably damaging	Het
Vps13b	T	A	15: 35,646,226 (GRCm39)	N1443K	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp616	A	G	11: 73,973,869 (GRCm39)		probably null	Het
Zmym1	T	C	4: 126,943,363 (GRCm39)	T244A	probably benign	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
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
R2297:Cyp2a12	UTSW	7	26,734,057 (GRCm39)	missense	possibly damaging	0.92
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'- ATTCTGCTTGGGAGACAGC -3'
(R):5'- CTTGCTGGATGAGTGACAGC -3'

Sequencing Primer
(F):5'- CCTGGCTAAGATGGAGCTGTTCC -3'
(R):5'- ACTGCTGCTCACTGTGTG -3'

Posted On

2014-09-17