Mutagenetix > Incidental Mutation

Incidental Mutation 'R2931:Cyp2c69'

264543

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c69

Ensembl Gene

ENSMUSG00000092008

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 69

Synonyms

AI098658

MMRRC Submission

040513-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39831258-39875243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39837927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 385 (T385I)

Ref Sequence

ENSEMBL: ENSMUSP00000132832 (fasta)

Gene Model

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

AlphaFold

E9PXC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000168838
AA Change: T385I

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

SMART Domains

Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: T385I

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	T	10: 10,318,246 (GRCm39)	V193I	possibly damaging	Het
Asb2	T	C	12: 103,301,146 (GRCm39)	D151G	probably damaging	Het
Dhx15	G	A	5: 52,324,074 (GRCm39)	P406L	probably benign	Het
Dido1	T	C	2: 180,303,446 (GRCm39)	E1486G	probably damaging	Het
Kdm5d	T	C	Y: 942,992 (GRCm39)	F1492L	probably benign	Het
Map2k4	A	T	11: 65,647,163 (GRCm39)	N59K	probably damaging	Het
Myo18b	A	G	5: 112,840,993 (GRCm39)	S2267P	probably benign	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Otogl	A	T	10: 107,655,865 (GRCm39)	M1080K	possibly damaging	Het
Pirb	A	T	7: 3,720,205 (GRCm39)	H389Q	probably benign	Het
Sptan1	A	G	2: 29,908,500 (GRCm39)	T1739A	probably benign	Het
Strip1	T	A	3: 107,532,975 (GRCm39)		probably null	Het
Trappc11	A	T	8: 47,956,977 (GRCm39)	D816E	probably damaging	Het
Zscan12	A	G	13: 21,548,187 (GRCm39)	D123G	possibly damaging	Het

Other mutations in Cyp2c69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01873:Cyp2c69	APN	19	39,869,693 (GRCm39)	splice site	probably benign
IGL02127:Cyp2c69	APN	19	39,839,501 (GRCm39)	missense	probably damaging	0.99
IGL02945:Cyp2c69	APN	19	39,875,091 (GRCm39)	missense	possibly damaging	0.81
IGL03067:Cyp2c69	APN	19	39,869,537 (GRCm39)	missense	probably benign	0.29
IGL03069:Cyp2c69	APN	19	39,869,537 (GRCm39)	missense	probably benign	0.29
BB007:Cyp2c69	UTSW	19	39,831,434 (GRCm39)	missense	possibly damaging	0.47
BB017:Cyp2c69	UTSW	19	39,831,434 (GRCm39)	missense	possibly damaging	0.47
R0545:Cyp2c69	UTSW	19	39,875,105 (GRCm39)	missense	probably damaging	1.00
R1276:Cyp2c69	UTSW	19	39,864,668 (GRCm39)	missense	possibly damaging	0.47
R1468:Cyp2c69	UTSW	19	39,837,839 (GRCm39)	missense	probably damaging	1.00
R1468:Cyp2c69	UTSW	19	39,837,839 (GRCm39)	missense	probably damaging	1.00
R1534:Cyp2c69	UTSW	19	39,839,593 (GRCm39)	missense	probably benign
R1549:Cyp2c69	UTSW	19	39,831,430 (GRCm39)	missense	probably benign	0.11
R1703:Cyp2c69	UTSW	19	39,864,810 (GRCm39)	missense	probably benign	0.10
R1752:Cyp2c69	UTSW	19	39,869,597 (GRCm39)	missense	probably damaging	1.00
R1769:Cyp2c69	UTSW	19	39,864,815 (GRCm39)	missense	probably benign	0.00
R1843:Cyp2c69	UTSW	19	39,865,972 (GRCm39)	missense	probably benign	0.27
R1938:Cyp2c69	UTSW	19	39,837,810 (GRCm39)	missense	probably damaging	0.97
R2100:Cyp2c69	UTSW	19	39,875,130 (GRCm39)	missense	probably benign	0.11
R2366:Cyp2c69	UTSW	19	39,866,038 (GRCm39)	missense	probably benign	0.12
R2367:Cyp2c69	UTSW	19	39,866,038 (GRCm39)	missense	probably benign	0.12
R2440:Cyp2c69	UTSW	19	39,864,738 (GRCm39)	missense	probably benign	0.17
R3709:Cyp2c69	UTSW	19	39,839,667 (GRCm39)	splice site	probably benign
R3793:Cyp2c69	UTSW	19	39,869,600 (GRCm39)	missense	probably benign	0.44
R3898:Cyp2c69	UTSW	19	39,864,834 (GRCm39)	missense	probably benign	0.00
R4579:Cyp2c69	UTSW	19	39,869,630 (GRCm39)	missense	possibly damaging	0.89
R4707:Cyp2c69	UTSW	19	39,837,852 (GRCm39)	missense	probably benign	0.39
R4778:Cyp2c69	UTSW	19	39,866,038 (GRCm39)	missense	probably benign	0.12
R4779:Cyp2c69	UTSW	19	39,866,038 (GRCm39)	missense	probably benign	0.12
R4780:Cyp2c69	UTSW	19	39,866,038 (GRCm39)	missense	probably benign	0.12
R4838:Cyp2c69	UTSW	19	39,866,038 (GRCm39)	missense	probably benign	0.12
R4877:Cyp2c69	UTSW	19	39,866,056 (GRCm39)	missense	probably damaging	1.00
R5488:Cyp2c69	UTSW	19	39,839,603 (GRCm39)	missense	probably null	0.94
R5489:Cyp2c69	UTSW	19	39,839,603 (GRCm39)	missense	probably null	0.94
R6083:Cyp2c69	UTSW	19	39,837,900 (GRCm39)	missense	probably damaging	1.00
R6278:Cyp2c69	UTSW	19	39,831,507 (GRCm39)	nonsense	probably null
R6415:Cyp2c69	UTSW	19	39,831,365 (GRCm39)	missense	probably benign	0.44
R6732:Cyp2c69	UTSW	19	39,869,943 (GRCm39)	missense	probably benign
R6858:Cyp2c69	UTSW	19	39,866,009 (GRCm39)	missense	probably benign	0.19
R7023:Cyp2c69	UTSW	19	39,865,986 (GRCm39)	missense	probably benign	0.43
R7227:Cyp2c69	UTSW	19	39,869,610 (GRCm39)	missense	possibly damaging	0.77
R7228:Cyp2c69	UTSW	19	39,869,610 (GRCm39)	missense	possibly damaging	0.77
R7260:Cyp2c69	UTSW	19	39,831,344 (GRCm39)	missense	probably benign	0.00
R7262:Cyp2c69	UTSW	19	39,875,176 (GRCm39)	start gained	probably benign
R7479:Cyp2c69	UTSW	19	39,870,001 (GRCm39)	missense	probably benign	0.00
R7570:Cyp2c69	UTSW	19	39,848,342 (GRCm39)	missense	probably damaging	1.00
R7663:Cyp2c69	UTSW	19	39,865,953 (GRCm39)	nonsense	probably null
R7785:Cyp2c69	UTSW	19	39,839,610 (GRCm39)	missense	probably damaging	1.00
R7795:Cyp2c69	UTSW	19	39,864,663 (GRCm39)	missense	probably benign
R7920:Cyp2c69	UTSW	19	39,866,247 (GRCm39)	splice site	probably null
R7930:Cyp2c69	UTSW	19	39,831,434 (GRCm39)	missense	possibly damaging	0.47
R8203:Cyp2c69	UTSW	19	39,869,584 (GRCm39)	missense	probably damaging	1.00
R8888:Cyp2c69	UTSW	19	39,869,910 (GRCm39)	missense	possibly damaging	0.65
R8895:Cyp2c69	UTSW	19	39,869,910 (GRCm39)	missense	possibly damaging	0.65
R9530:Cyp2c69	UTSW	19	39,848,311 (GRCm39)	missense	possibly damaging	0.82
R9645:Cyp2c69	UTSW	19	39,869,593 (GRCm39)	missense	probably damaging	1.00
R9665:Cyp2c69	UTSW	19	39,839,504 (GRCm39)	missense	possibly damaging	0.73
R9753:Cyp2c69	UTSW	19	39,865,991 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- ACTGGAGCCTTGGGAATGAC -3'
(R):5'- CTCTGTCAATTTCCAAGACTTTAGATG -3'

Sequencing Primer
(F):5'- CTTTCTATTACCTGCTGAGAAAGGC -3'
(R):5'- AATCCATGTGCCTAGATGCCAGG -3'

Posted On

2015-02-05