Mutagenetix > Incidental Mutations

Incidental Mutation 'R1222:Cyp2a4'

152761

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a4

Ensembl Gene

ENSMUSG00000074254

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 4

Synonyms

D7Ucla4, Cyp15a1, testosterone 15alpha-hydroxylase

MMRRC Submission

039291-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R1222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26307169-26315088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26308588 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 140 (V140A)

Ref Sequence

ENSEMBL: ENSMUSP00000096254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098657]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098657
AA Change: V140A

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: V140A

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:p450	34	491	8.9e-151	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206226

Meta Mutation Damage Score

0.4162

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,145,064		probably benign	Het
Abl1	T	C	2: 31,800,994	S842P	probably benign	Het
Agrn	C	A	4: 156,177,385	V483L	probably damaging	Het
Ankrd13a	T	A	5: 114,800,763	C365*	probably null	Het
Ap2b1	T	C	11: 83,346,738	S543P	probably benign	Het
Atic	C	T	1: 71,559,279	T67I	probably damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Cux1	C	T	5: 136,275,149	R1391Q	probably benign	Het
Dlgap3	A	T	4: 127,194,613	M1L	probably null	Het
Dnah3	T	C	7: 120,090,676	D2G	probably benign	Het
Erbb3	A	C	10: 128,571,665	V938G	probably damaging	Het
Fam13a	C	T	6: 58,935,722		probably benign	Het
Gata2	G	A	6: 88,200,341	V118I	probably benign	Het
Gm2663	T	C	6: 40,996,041	I211V	probably benign	Het
Gm5096	A	G	18: 87,757,334	K327R	probably damaging	Het
Gm8298	T	A	3: 59,877,261	L385*	probably null	Het
Izumo3	T	A	4: 92,145,047	N104I	probably damaging	Het
Kifc1	G	A	17: 33,884,711	R195C	probably benign	Het
Mctp2	T	A	7: 72,259,139	H142L	probably benign	Het
Mmp10	T	C	9: 7,505,681		probably benign	Het
Mroh8	G	A	2: 157,241,854		probably benign	Het
Mylk	T	C	16: 34,860,652	V94A	probably benign	Het
Nol6	A	T	4: 41,120,760	N396K	probably benign	Het
Nr4a2	A	T	2: 57,108,324	N543K	probably damaging	Het
Nynrin	T	C	14: 55,863,541	S263P	probably benign	Het
Olfr1115	G	T	2: 87,252,422	G162C	probably benign	Het
Olfr395	A	T	11: 73,907,414	L26H	probably damaging	Het
Olfr493	T	A	7: 108,346,106	I292F	probably damaging	Het
Olfr77	G	A	9: 19,921,048	V280I	possibly damaging	Het
Pkhd1	T	A	1: 20,567,456	R368S	probably benign	Het
Plekhg4	G	A	8: 105,379,110	A736T	probably benign	Het
Plxna2	A	G	1: 194,800,649	D1550G	probably damaging	Het
Qrfpr	C	A	3: 36,180,095	G366W	probably damaging	Het
Qser1	C	A	2: 104,777,431	A1471S	probably damaging	Het
Rars	A	T	11: 35,809,740	Y505N	probably damaging	Het
Reln	T	A	5: 21,986,955	T1496S	probably null	Het
Rrs1	T	C	1: 9,545,855	L111P	probably benign	Het
Selplg	C	T	5: 113,819,373	V291M	possibly damaging	Het
Serpinb1c	T	A	13: 32,896,951	T50S	possibly damaging	Het
Slc4a5	A	G	6: 83,280,132	K640E	probably damaging	Het
Szt2	A	T	4: 118,405,459	H40Q	possibly damaging	Het
Taar4	C	T	10: 23,961,332	T280I	probably benign	Het
Tdo2	A	G	3: 81,961,468		probably null	Het
Tpp1	T	C	7: 105,746,741	N527S	probably benign	Het
Trim43c	A	T	9: 88,843,078	T218S	possibly damaging	Het
Trim45	G	T	3: 100,927,298	M432I	probably benign	Het
Ubr4	T	C	4: 139,388,471		probably null	Het
Vat1l	T	C	8: 114,282,361		probably benign	Het
Xpo7	A	T	14: 70,667,084	H1037Q	possibly damaging	Het
Zmiz1	T	C	14: 25,658,096		probably benign	Het

Other mutations in Cyp2a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01533:Cyp2a4	APN	7	26308544	missense	probably damaging	1.00
IGL01609:Cyp2a4	APN	7	26308663	critical splice donor site	probably null
IGL01959:Cyp2a4	APN	7	26307708	missense	probably damaging	1.00
IGL02282:Cyp2a4	APN	7	26309047	missense	probably benign	0.01
IGL03053:Cyp2a4	APN	7	26313550	splice site	probably benign
IGL03168:Cyp2a4	APN	7	26313550	splice site	probably benign
R0393:Cyp2a4	UTSW	7	26312868	missense	possibly damaging	0.67
R0453:Cyp2a4	UTSW	7	26312833	missense	probably benign	0.22
R0825:Cyp2a4	UTSW	7	26312916	missense	probably benign	0.07
R0948:Cyp2a4	UTSW	7	26310788	missense	probably damaging	1.00
R1215:Cyp2a4	UTSW	7	26314801	missense	possibly damaging	0.75
R1374:Cyp2a4	UTSW	7	26312923	missense	probably damaging	0.99
R1473:Cyp2a4	UTSW	7	26314763	missense	probably benign
R1580:Cyp2a4	UTSW	7	26307651	missense	possibly damaging	0.91
R1768:Cyp2a4	UTSW	7	26312772	missense	possibly damaging	0.94
R1832:Cyp2a4	UTSW	7	26312210	missense	probably damaging	0.99
R1911:Cyp2a4	UTSW	7	26308974	missense	possibly damaging	0.85
R2080:Cyp2a4	UTSW	7	26308537	missense	possibly damaging	0.96
R2086:Cyp2a4	UTSW	7	26312308	missense	probably damaging	1.00
R2259:Cyp2a4	UTSW	7	26309035	missense	probably damaging	0.99
R2877:Cyp2a4	UTSW	7	26312187	missense	possibly damaging	0.95
R2878:Cyp2a4	UTSW	7	26312187	missense	possibly damaging	0.95
R3732:Cyp2a4	UTSW	7	26312827	missense	probably damaging	1.00
R3732:Cyp2a4	UTSW	7	26312827	missense	probably damaging	1.00
R3733:Cyp2a4	UTSW	7	26312827	missense	probably damaging	1.00
R3734:Cyp2a4	UTSW	7	26312827	missense	probably damaging	1.00
R3741:Cyp2a4	UTSW	7	26308544	missense	probably damaging	1.00
R4079:Cyp2a4	UTSW	7	26307366	missense	probably benign	0.22
R4297:Cyp2a4	UTSW	7	26307368	missense	probably damaging	0.96
R4785:Cyp2a4	UTSW	7	26312875	missense	probably damaging	1.00
R4998:Cyp2a4	UTSW	7	26307361	missense	probably damaging	1.00
R5297:Cyp2a4	UTSW	7	26312204	missense	probably benign	0.07
R5893:Cyp2a4	UTSW	7	26308928	missense	probably damaging	1.00
R5942:Cyp2a4	UTSW	7	26310704	critical splice acceptor site	probably null
R6262:Cyp2a4	UTSW	7	26312230	missense	probably damaging	0.99
R6612:Cyp2a4	UTSW	7	26308647	missense	probably benign	0.00
R6722:Cyp2a4	UTSW	7	26313558	missense	probably benign	0.04
R7064:Cyp2a4	UTSW	7	26312307	missense	probably benign	0.02
R7419:Cyp2a4	UTSW	7	26314763	missense	probably benign	0.00
R7562:Cyp2a4	UTSW	7	26312896	missense	possibly damaging	0.88
R8231:Cyp2a4	UTSW	7	26312937	missense	probably benign	0.00
R8750:Cyp2a4	UTSW	7	26312784	missense	probably benign	0.00
Z1176:Cyp2a4	UTSW	7	26307323	nonsense	probably null
Z1176:Cyp2a4	UTSW	7	26310841	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCTGTTAGAGGAACAGCGCAAG -3'
(R):5'- TCATAGTCAAAGCGGTCCCCGAAG -3'

Sequencing Primer
(F):5'- CAGCGCAAGGGTTCAGTG -3'
(R):5'- TCGCACAGCGGATATCAG -3'

Posted On

2014-01-29