Mutagenetix > Incidental Mutation

Incidental Mutation 'R2367:Cyp2c69'

246394

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c69

Ensembl Gene

ENSMUSG00000092008

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 69

Synonyms

AI098658

MMRRC Submission

040348-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2367 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

39831258-39875243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39866038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 185 (N185S)

Ref Sequence

ENSEMBL: ENSMUSP00000132832 (fasta)

Gene Model

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

AlphaFold

E9PXC3

Predicted Effect

probably benign
Transcript: ENSMUST00000168838
AA Change: N185S

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: N185S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	T	C	16: 22,974,069 (GRCm39)	V32A	probably benign	Het
Ceacam3	T	C	7: 16,885,813 (GRCm39)		probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Cfap46	C	A	7: 139,233,414 (GRCm39)	V296F	probably damaging	Het
Ctdspl2	T	C	2: 121,817,499 (GRCm39)	V182A	probably benign	Het
Daxx	C	T	17: 34,130,821 (GRCm39)	R279W	probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Galnt13	A	T	2: 55,002,956 (GRCm39)	M552L	probably benign	Het
Gstt2	C	T	10: 75,668,524 (GRCm39)	G108S	probably benign	Het
Heatr1	T	A	13: 12,448,605 (GRCm39)	L422Q	probably damaging	Het
Kntc1	C	T	5: 123,919,255 (GRCm39)	L845F	probably damaging	Het
Krtap26-1	C	A	16: 88,444,213 (GRCm39)	R136L	probably benign	Het
Mrgprb5	C	T	7: 47,818,347 (GRCm39)	W129*	probably null	Het
Ms4a3	G	A	19: 11,607,108 (GRCm39)	P186S	probably benign	Het
Myo15a	T	A	11: 60,408,064 (GRCm39)	M3184K	probably damaging	Het
Olig2	G	A	16: 91,023,454 (GRCm39)	R56Q	possibly damaging	Het
Or8u9	T	C	2: 86,001,981 (GRCm39)	Y60C	probably damaging	Het
Pgap3	C	T	11: 98,281,985 (GRCm39)		probably null	Het
Phgdh	C	G	3: 98,221,612 (GRCm39)	G440A	probably benign	Het
Scn1a	T	C	2: 66,158,023 (GRCm39)	Q450R	probably damaging	Het
Sema4d	CGGGG	CGGGGGGG	13: 51,857,176 (GRCm39)		probably benign	Het
Sik1	C	T	17: 32,065,271 (GRCm39)	V776I	possibly damaging	Het
Slc25a39	T	A	11: 102,294,477 (GRCm39)	T316S	possibly damaging	Het
Slc38a10	C	T	11: 120,001,087 (GRCm39)	E578K	probably benign	Het
Slc44a5	T	A	3: 153,953,446 (GRCm39)	I276K	possibly damaging	Het
Smarcc2	A	G	10: 128,318,036 (GRCm39)	T610A	possibly damaging	Het
Spag9	G	A	11: 94,007,583 (GRCm39)	S1090N	probably damaging	Het
Tpr	T	C	1: 150,309,479 (GRCm39)	V277A	probably damaging	Het
Traf3ip1	T	G	1: 91,435,242 (GRCm39)	S314A	possibly damaging	Het
Tril	T	A	6: 53,796,151 (GRCm39)	D357V	probably damaging	Het
Tube1	T	C	10: 39,020,915 (GRCm39)	L267P	probably damaging	Het
Vmn1r11	A	G	6: 57,114,416 (GRCm39)	I27V	probably benign	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
R2440:Cyp2c69	UTSW	19	39,864,738 (GRCm39)	missense	probably benign	0.17
R2931:Cyp2c69	UTSW	19	39,837,927 (GRCm39)	missense	probably damaging	1.00
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'- GTACTTGTCTGACATGTCTCTATTG -3'
(R):5'- AAGATCACCATTCTTCAGCAGG -3'

Sequencing Primer
(F):5'- GACATGTCTCTATTGATTTTGACCTG -3'
(R):5'- TCACCATTCTTCAGCAGGTAAGTAC -3'

Posted On

2014-10-30