Mutagenetix > Incidental Mutations

Incidental Mutation 'R1374:Cyp2a4'

157441

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

039438-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1374 (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 26312923 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 377 (D377G)

Ref Sequence

ENSEMBL: ENSMUSP00000096254 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098657
AA Change: D377G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: D377G

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

0.8268

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 90.1%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5z1	G	A	5: 142,470,458	R344H	probably damaging	Het
C77080	A	G	4: 129,222,289	S849P	possibly damaging	Het
Ccdc38	C	T	10: 93,582,434		probably benign	Het
Cd47	T	C	16: 49,894,180	L184P	probably damaging	Het
Cps1	T	C	1: 67,230,281	S1480P	probably damaging	Het
Ddb1	G	A	19: 10,608,318	G132D	probably damaging	Het
Dlgap2	T	C	8: 14,831,228		probably benign	Het
Epg5	A	G	18: 77,981,326	D1132G	probably benign	Het
Fam184b	T	C	5: 45,555,143	E511G	probably benign	Het
Fbn1	T	A	2: 125,346,434	D1495V	probably damaging	Het
Gpatch1	A	T	7: 35,291,762	L619Q	probably damaging	Het
Inpp4b	T	G	8: 81,743,816		probably null	Het
Kifc1	T	C	17: 33,883,875	R192G	probably benign	Het
Klhl30	C	T	1: 91,361,076	T519M	probably damaging	Het
Klhl8	A	C	5: 103,863,183	L516R	probably damaging	Het
Meikin	T	A	11: 54,398,444		probably benign	Het
Mlph	T	A	1: 90,941,703	S476T	probably damaging	Het
Neb	T	C	2: 52,243,389	Y3379C	probably damaging	Het
Nfxl1	G	A	5: 72,524,145	T681I	probably benign	Het
Obox1	A	T	7: 15,555,501		probably benign	Het
Oplah	G	A	15: 76,306,555	R31C	probably damaging	Het
Polb	T	C	8: 22,653,057		probably benign	Het
Ppfibp2	A	G	7: 107,685,988		probably benign	Het
Prr12	A	G	7: 45,046,218	S1275P	unknown	Het
Ptcd3	C	A	6: 71,908,653	E30*	probably null	Het
Ranbp2	T	C	10: 58,485,893		probably benign	Het
Rapgef2	A	G	3: 79,087,968	V791A	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rims1	G	A	1: 22,296,948	T1176M	probably damaging	Het
Ripor2	T	C	13: 24,673,112		probably null	Het
Sae1	A	G	7: 16,378,408	I60T	probably damaging	Het
Tenm2	T	C	11: 36,008,454	T2626A	probably benign	Het
Trrap	A	G	5: 144,846,618	Q3419R	probably damaging	Het
Vill	C	A	9: 119,061,494	N158K	probably benign	Het
Zbtb14	A	G	17: 69,387,580	N91S	probably damaging	Het
Zfp248	A	G	6: 118,433,373	L25P	probably damaging	Het
Zmym1	T	A	4: 127,049,611	K230I	probably damaging	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
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'- TGGTGCAATTCACACAGATCCCAAG -3'
(R):5'- TGGCAGAGAAAGCCTGTCACTGAG -3'

Sequencing Primer
(F):5'- AATGCCATACAATGTTCCCTGG -3'
(R):5'- TGTCACTGAGGCACCAAG -3'

Posted On

2014-02-18