Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Cyp2a4'

548446

Institutional Source

Beutler Lab

Gene Symbol

Cyp2a4

Ensembl Gene

ENSMUSG00000074254

Gene Name

cytochrome P450, family 2, subfamily a, polypeptide 4

Synonyms

Cyp15a1, D7Ucla4, testosterone 15alpha-hydroxylase

MMRRC Submission

045160-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26006617-26014513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26011732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 318 (M318L)

Ref Sequence

ENSEMBL: ENSMUSP00000096254 (fasta)

Gene Model

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

AlphaFold

P15392

Predicted Effect

probably benign
Transcript: ENSMUST00000098657
AA Change: M318L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: M318L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,984,746 (GRCm39)	I263T	probably damaging	Het
Adamtsl1	C	T	4: 86,260,278 (GRCm39)	P830S	possibly damaging	Het
Adrb1	T	C	19: 56,711,456 (GRCm39)	F218S	probably damaging	Het
Ahnak2	T	C	12: 112,746,919 (GRCm39)		probably benign	Het
Arsj	T	A	3: 126,231,986 (GRCm39)	V244E	probably damaging	Het
Atm	T	C	9: 53,419,181 (GRCm39)	E757G	probably benign	Het
AU040320	A	G	4: 126,685,865 (GRCm39)	D147G	probably benign	Het
Btnl10	A	T	11: 58,810,134 (GRCm39)	M92L	possibly damaging	Het
Chd6	T	C	2: 160,791,983 (GRCm39)	D2458G	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Ctns	A	G	11: 73,077,218 (GRCm39)	V250A	probably benign	Het
Cxxc1	T	A	18: 74,353,678 (GRCm39)		probably null	Het
Dchs1	A	G	7: 105,412,392 (GRCm39)	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392 (GRCm39)			Het
Dmbx1	T	C	4: 115,775,465 (GRCm39)	N272D	probably damaging	Het
Dsel	C	A	1: 111,790,577 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,804 (GRCm39)	D389A	possibly damaging	Het
Ero1a	T	C	14: 45,544,049 (GRCm39)	T52A	probably damaging	Het
Fam186a	T	C	15: 99,839,557 (GRCm39)	E2229G	unknown	Het
Gabrd	C	T	4: 155,472,803 (GRCm39)	V127M	probably damaging	Het
Gpc2	A	T	5: 138,277,172 (GRCm39)	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,198,764 (GRCm39)	L793S	probably benign	Het
Irag1	C	G	7: 110,495,061 (GRCm39)	E455Q	probably damaging	Het
Itpr3	G	C	17: 27,308,269 (GRCm39)	G298R	probably damaging	Het
Kalrn	A	T	16: 34,038,261 (GRCm39)	C1024S	probably damaging	Het
Krt40	T	C	11: 99,430,954 (GRCm39)	Y185C	probably benign	Het
Lmo7	G	A	14: 102,121,615 (GRCm39)	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,965,524 (GRCm39)	L1184*	probably null	Het
Or10s1	T	A	9: 39,986,109 (GRCm39)	Y173N	probably damaging	Het
Or14j2	T	A	17: 37,885,634 (GRCm39)	R227W	probably damaging	Het
Or4c15	T	A	2: 88,759,853 (GRCm39)	M269L	probably benign	Het
Parp9	T	G	16: 35,774,042 (GRCm39)	V338G	probably benign	Het
Pcdh15	G	A	10: 74,466,446 (GRCm39)	E888K	possibly damaging	Het
Pcdh9	C	T	14: 94,123,585 (GRCm39)	E862K	probably damaging	Het
Prkdc	A	G	16: 15,608,317 (GRCm39)	T3040A	probably benign	Het
Qser1	T	C	2: 104,617,464 (GRCm39)	E1026G	probably damaging	Het
Rnf20	C	T	4: 49,644,580 (GRCm39)	R282*	probably null	Het
Rpgrip1l	T	A	8: 91,990,148 (GRCm39)	K765*	probably null	Het
Rprd2	G	A	3: 95,672,328 (GRCm39)	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,212,983 (GRCm39)	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,318,977 (GRCm39)	D1554H	probably damaging	Het
Septin14	T	C	5: 129,774,870 (GRCm39)	I102V	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Siglec1	C	T	2: 130,925,834 (GRCm39)	G291R	probably benign	Het
Sik2	A	G	9: 50,818,720 (GRCm39)	V418A	probably damaging	Het
Slc9a5	A	G	8: 106,076,078 (GRCm39)	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,863,955 (GRCm39)	S368P	probably benign	Het
Stip1	T	C	19: 7,012,925 (GRCm39)	D53G	probably benign	Het
Stk36	T	C	1: 74,649,979 (GRCm39)	W245R	probably damaging	Het
Stk39	A	T	2: 68,189,156 (GRCm39)		probably null	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tasor	C	T	14: 27,194,288 (GRCm39)	P1163S	probably benign	Het
Terb1	A	T	8: 105,215,186 (GRCm39)	N263K	probably benign	Het
Tgm5	T	C	2: 120,883,995 (GRCm39)	M333V	probably benign	Het
Tmem45a	T	C	16: 56,642,767 (GRCm39)	M135V	probably benign	Het
Trmt13	T	A	3: 116,376,346 (GRCm39)	K348N	probably damaging	Het
Trmt2a	A	T	16: 18,070,868 (GRCm39)	M534L	probably damaging	Het
Ttll13	G	A	7: 79,906,778 (GRCm39)	R513K	probably null	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Washc3	T	C	10: 88,081,635 (GRCm39)	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,047,049 (GRCm39)	C21S	probably damaging	Het
Zfp944	T	A	17: 22,558,560 (GRCm39)	H229L	probably damaging	Het
Zfp985	T	A	4: 147,667,573 (GRCm39)	I147N	probably benign	Het

Other mutations in Cyp2a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01533:Cyp2a4	APN	7	26,007,969 (GRCm39)	missense	probably damaging	1.00
IGL01609:Cyp2a4	APN	7	26,008,088 (GRCm39)	critical splice donor site	probably null
IGL01959:Cyp2a4	APN	7	26,007,133 (GRCm39)	missense	probably damaging	1.00
IGL02282:Cyp2a4	APN	7	26,008,472 (GRCm39)	missense	probably benign	0.01
IGL03053:Cyp2a4	APN	7	26,012,975 (GRCm39)	splice site	probably benign
IGL03168:Cyp2a4	APN	7	26,012,975 (GRCm39)	splice site	probably benign
R0393:Cyp2a4	UTSW	7	26,012,293 (GRCm39)	missense	possibly damaging	0.67
R0453:Cyp2a4	UTSW	7	26,012,258 (GRCm39)	missense	probably benign	0.22
R0825:Cyp2a4	UTSW	7	26,012,341 (GRCm39)	missense	probably benign	0.07
R0948:Cyp2a4	UTSW	7	26,010,213 (GRCm39)	missense	probably damaging	1.00
R1215:Cyp2a4	UTSW	7	26,014,226 (GRCm39)	missense	possibly damaging	0.75
R1222:Cyp2a4	UTSW	7	26,008,013 (GRCm39)	missense	possibly damaging	0.70
R1374:Cyp2a4	UTSW	7	26,012,348 (GRCm39)	missense	probably damaging	0.99
R1473:Cyp2a4	UTSW	7	26,014,188 (GRCm39)	missense	probably benign
R1580:Cyp2a4	UTSW	7	26,007,076 (GRCm39)	missense	possibly damaging	0.91
R1768:Cyp2a4	UTSW	7	26,012,197 (GRCm39)	missense	possibly damaging	0.94
R1832:Cyp2a4	UTSW	7	26,011,635 (GRCm39)	missense	probably damaging	0.99
R1911:Cyp2a4	UTSW	7	26,008,399 (GRCm39)	missense	possibly damaging	0.85
R2080:Cyp2a4	UTSW	7	26,007,962 (GRCm39)	missense	possibly damaging	0.96
R2086:Cyp2a4	UTSW	7	26,011,733 (GRCm39)	missense	probably damaging	1.00
R2259:Cyp2a4	UTSW	7	26,008,460 (GRCm39)	missense	probably damaging	0.99
R2877:Cyp2a4	UTSW	7	26,011,612 (GRCm39)	missense	possibly damaging	0.95
R2878:Cyp2a4	UTSW	7	26,011,612 (GRCm39)	missense	possibly damaging	0.95
R3732:Cyp2a4	UTSW	7	26,012,252 (GRCm39)	missense	probably damaging	1.00
R3732:Cyp2a4	UTSW	7	26,012,252 (GRCm39)	missense	probably damaging	1.00
R3733:Cyp2a4	UTSW	7	26,012,252 (GRCm39)	missense	probably damaging	1.00
R3734:Cyp2a4	UTSW	7	26,012,252 (GRCm39)	missense	probably damaging	1.00
R3741:Cyp2a4	UTSW	7	26,007,969 (GRCm39)	missense	probably damaging	1.00
R4079:Cyp2a4	UTSW	7	26,006,791 (GRCm39)	missense	probably benign	0.22
R4297:Cyp2a4	UTSW	7	26,006,793 (GRCm39)	missense	probably damaging	0.96
R4785:Cyp2a4	UTSW	7	26,012,300 (GRCm39)	missense	probably damaging	1.00
R4998:Cyp2a4	UTSW	7	26,006,786 (GRCm39)	missense	probably damaging	1.00
R5297:Cyp2a4	UTSW	7	26,011,629 (GRCm39)	missense	probably benign	0.07
R5893:Cyp2a4	UTSW	7	26,008,353 (GRCm39)	missense	probably damaging	1.00
R5942:Cyp2a4	UTSW	7	26,010,129 (GRCm39)	critical splice acceptor site	probably null
R6262:Cyp2a4	UTSW	7	26,011,655 (GRCm39)	missense	probably damaging	0.99
R6612:Cyp2a4	UTSW	7	26,008,072 (GRCm39)	missense	probably benign	0.00
R6722:Cyp2a4	UTSW	7	26,012,983 (GRCm39)	missense	probably benign	0.04
R7419:Cyp2a4	UTSW	7	26,014,188 (GRCm39)	missense	probably benign	0.00
R7562:Cyp2a4	UTSW	7	26,012,321 (GRCm39)	missense	possibly damaging	0.88
R8231:Cyp2a4	UTSW	7	26,012,362 (GRCm39)	missense	probably benign	0.00
R8750:Cyp2a4	UTSW	7	26,012,209 (GRCm39)	missense	probably benign	0.00
R8789:Cyp2a4	UTSW	7	26,007,106 (GRCm39)	missense	probably damaging	1.00
R9129:Cyp2a4	UTSW	7	26,014,136 (GRCm39)	missense	probably benign	0.01
R9502:Cyp2a4	UTSW	7	26,008,004 (GRCm39)	missense	probably benign	0.01
R9523:Cyp2a4	UTSW	7	26,011,688 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp2a4	UTSW	7	26,010,266 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp2a4	UTSW	7	26,006,748 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCCACCTTAGGTCTGAGC -3'
(R):5'- GCAGGGAGTAGCTAGTTATCTG -3'

Sequencing Primer
(F):5'- CACCTTAGGTCTGAGCCAAAGAG -3'
(R):5'- GAGTAGCTAGTTATCTGAGAACCC -3'

Posted On

2019-05-13