Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Cyp2c69'

44799

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c69

Ensembl Gene

ENSMUSG00000092008

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 69

Synonyms

AI098658

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39842660-39886769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39886661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 16 (L16R)

Ref Sequence

ENSEMBL: ENSMUSP00000132832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168838]

AlphaFold

E9PXC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000168838
AA Change: L16R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: L16R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	7e-152	PFAM

Meta Mutation Damage Score

0.4832

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Cyp2c69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01873:Cyp2c69	APN	19	39881249	splice site	probably benign
IGL02127:Cyp2c69	APN	19	39851057	missense	probably damaging	0.99
IGL02945:Cyp2c69	APN	19	39886647	missense	possibly damaging	0.81
IGL03067:Cyp2c69	APN	19	39881093	missense	probably benign	0.29
IGL03069:Cyp2c69	APN	19	39881093	missense	probably benign	0.29
BB007:Cyp2c69	UTSW	19	39842990	missense	possibly damaging	0.47
BB017:Cyp2c69	UTSW	19	39842990	missense	possibly damaging	0.47
R1276:Cyp2c69	UTSW	19	39876224	missense	possibly damaging	0.47
R1468:Cyp2c69	UTSW	19	39849395	missense	probably damaging	1.00
R1468:Cyp2c69	UTSW	19	39849395	missense	probably damaging	1.00
R1534:Cyp2c69	UTSW	19	39851149	missense	probably benign
R1549:Cyp2c69	UTSW	19	39842986	missense	probably benign	0.11
R1703:Cyp2c69	UTSW	19	39876366	missense	probably benign	0.10
R1752:Cyp2c69	UTSW	19	39881153	missense	probably damaging	1.00
R1769:Cyp2c69	UTSW	19	39876371	missense	probably benign	0.00
R1843:Cyp2c69	UTSW	19	39877528	missense	probably benign	0.27
R1938:Cyp2c69	UTSW	19	39849366	missense	probably damaging	0.97
R2100:Cyp2c69	UTSW	19	39886686	missense	probably benign	0.11
R2366:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R2367:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R2440:Cyp2c69	UTSW	19	39876294	missense	probably benign	0.17
R2931:Cyp2c69	UTSW	19	39849483	missense	probably damaging	1.00
R3709:Cyp2c69	UTSW	19	39851223	splice site	probably benign
R3793:Cyp2c69	UTSW	19	39881156	missense	probably benign	0.44
R3898:Cyp2c69	UTSW	19	39876390	missense	probably benign	0.00
R4579:Cyp2c69	UTSW	19	39881186	missense	possibly damaging	0.89
R4707:Cyp2c69	UTSW	19	39849408	missense	probably benign	0.39
R4778:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R4779:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R4780:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R4838:Cyp2c69	UTSW	19	39877594	missense	probably benign	0.12
R4877:Cyp2c69	UTSW	19	39877612	missense	probably damaging	1.00
R5488:Cyp2c69	UTSW	19	39851159	missense	probably null	0.94
R5489:Cyp2c69	UTSW	19	39851159	missense	probably null	0.94
R6083:Cyp2c69	UTSW	19	39849456	missense	probably damaging	1.00
R6278:Cyp2c69	UTSW	19	39843063	nonsense	probably null
R6415:Cyp2c69	UTSW	19	39842921	missense	probably benign	0.44
R6732:Cyp2c69	UTSW	19	39881499	missense	probably benign
R6858:Cyp2c69	UTSW	19	39877565	missense	probably benign	0.19
R7023:Cyp2c69	UTSW	19	39877542	missense	probably benign	0.43
R7227:Cyp2c69	UTSW	19	39881166	missense	possibly damaging	0.77
R7228:Cyp2c69	UTSW	19	39881166	missense	possibly damaging	0.77
R7260:Cyp2c69	UTSW	19	39842900	missense	probably benign	0.00
R7262:Cyp2c69	UTSW	19	39886732	start gained	probably benign
R7479:Cyp2c69	UTSW	19	39881557	missense	probably benign	0.00
R7570:Cyp2c69	UTSW	19	39859898	missense	probably damaging	1.00
R7663:Cyp2c69	UTSW	19	39877509	nonsense	probably null
R7785:Cyp2c69	UTSW	19	39851166	missense	probably damaging	1.00
R7795:Cyp2c69	UTSW	19	39876219	missense	probably benign
R7920:Cyp2c69	UTSW	19	39877803	splice site	probably null
R7930:Cyp2c69	UTSW	19	39842990	missense	possibly damaging	0.47
R8203:Cyp2c69	UTSW	19	39881140	missense	probably damaging	1.00
R8888:Cyp2c69	UTSW	19	39881466	missense	possibly damaging	0.65
R8895:Cyp2c69	UTSW	19	39881466	missense	possibly damaging	0.65
R9530:Cyp2c69	UTSW	19	39859867	missense	possibly damaging	0.82
R9645:Cyp2c69	UTSW	19	39881149	missense	probably damaging	1.00
R9665:Cyp2c69	UTSW	19	39851060	missense	possibly damaging	0.73
R9753:Cyp2c69	UTSW	19	39877547	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- CAGGGTCTTCAGTCTGAAACTTAGAGC -3'
(R):5'- GTTGATTGCACAAAGATGCCCAAACG -3'

Sequencing Primer
(F):5'- CTTCAGTCTGAAACTTAGAGCATTAC -3'
(R):5'- GATGCCCAAACGCAAAATATTG -3'

Posted On

2013-06-11