Mutagenetix > Incidental Mutation

Incidental Mutation 'R7930:Cyp2c69'

643568

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c69

Ensembl Gene

ENSMUSG00000092008

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 69

Synonyms

AI098658

MMRRC Submission

045977-MU

Accession Numbers

Essential gene?

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

Stock #

R7930 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

39831258-39875243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39831434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 460 (P460T)

Ref Sequence

ENSEMBL: ENSMUSP00000132832 (fasta)

Gene Model

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

AlphaFold

E9PXC3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168838
AA Change: P460T

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: P460T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ahnak2	T	C	12: 112,745,560 (GRCm39)	E629G		Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
Dusp9	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	X: 72,684,128 (GRCm39)		probably benign	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,733,589 (GRCm39)	D716E	probably benign	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Gas7	A	G	11: 67,556,217 (GRCm39)	I185M	probably damaging	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm7876	A	T	14: 4,711,357 (GRCm38)	I124L	possibly damaging	Het
Golga5	A	G	12: 102,450,681 (GRCm39)	N445D	probably benign	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,733,769 (GRCm39)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,506 (GRCm39)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Muc4	C	CTAG	16: 32,575,369 (GRCm39)		probably benign	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Sntb2	T	A	8: 107,728,269 (GRCm39)	S406T	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Spart	A	G	3: 55,035,697 (GRCm39)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm39)	N565K	possibly damaging	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	probably null	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
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
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'- TAAATGAGGGCTTCCATGGGC -3'
(R):5'- TGTGTCTCTGCTTAACTAGATATCC -3'

Sequencing Primer
(F):5'- CTTCCATGGGCGATTGAGAAAAAC -3'
(R):5'- ACATCTAAACACTCATCCAATAACTC -3'

Posted On

2020-08-07