Mutagenetix > Incidental Mutations

Incidental Mutation 'R3732:Cyp2a4'

271040

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

040720-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26307169-26315088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26312827 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 345 (D345G)

Ref Sequence

ENSEMBL: ENSMUSP00000096254 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098657
AA Change: D345G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: D345G

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

Meta Mutation Damage Score

0.8548

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pkd2	G	A	5: 104,489,419		probably null	Het
Ppp1r9a	T	C	6: 4,906,259		probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Shf	T	A	2: 122,345,207		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Slc44a4	G	A	17: 34,921,561		silent	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Twf1	A	C	15: 94,584,414		probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vps50	T	C	6: 3,519,243		silent	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	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
R1222:Cyp2a4	UTSW	7	26308588	missense	possibly damaging	0.70
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
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
Z1176:Cyp2a4	UTSW	7	26307323	nonsense	probably null
Z1176:Cyp2a4	UTSW	7	26310841	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCACCAGCTAAACATCCTTTC -3'
(R):5'- AAGAGGGCTAGAGGTCACTC -3'

Sequencing Primer
(F):5'- GAAGCAGTTTCACCAATGCATG -3'
(R):5'- CACTCTAGGCTGGGTGAATCAG -3'

Posted On

2015-03-18