Mutagenetix > Incidental Mutation

Incidental Mutation 'R0007:Cyp2c66'

64860

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c66

Ensembl Gene

ENSMUSG00000067229

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 66

Synonyms

2010301M18Rik

MMRRC Submission

038302-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

39102342-39175200 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 39159402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 284 (C284*)

Ref Sequence

ENSEMBL: ENSMUSP00000084487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087234] [ENSMUST00000146494]

AlphaFold

Q5GLZ0

Predicted Effect

probably null
Transcript: ENSMUST00000087234
AA Change: C284*

SMART Domains

Protein: ENSMUSP00000084487
Gene: ENSMUSG00000067229
AA Change: C284*

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	1e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146494

SMART Domains

Protein: ENSMUSP00000120397
Gene: ENSMUSG00000067229

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SCOP:d1cpt__	26	55	4e-9	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.5%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,562 (GRCm39)	Y543N	probably damaging	Het
Adgrb3	C	A	1: 25,150,772 (GRCm39)		probably null	Het
AI504432	T	A	3: 106,956,152 (GRCm39)		noncoding transcript	Het
Cd82	T	C	2: 93,264,226 (GRCm39)	N39S	probably benign	Het
Cntnap2	A	C	6: 45,969,007 (GRCm39)	N250H	possibly damaging	Het
Col7a1	T	C	9: 108,790,471 (GRCm39)	V973A	unknown	Het
Denr	T	A	5: 124,062,877 (GRCm39)	Y127N	probably damaging	Het
Diaph3	C	A	14: 87,104,056 (GRCm39)	R776L	possibly damaging	Het
Gm5600	T	A	7: 113,307,010 (GRCm39)		noncoding transcript	Het
Hephl1	A	T	9: 14,997,471 (GRCm39)	D398E	possibly damaging	Het
Lama3	T	A	18: 12,630,938 (GRCm39)		probably benign	Het
Mtrr	A	T	13: 68,723,449 (GRCm39)	F154L	probably benign	Het
Myo1b	T	A	1: 51,815,413 (GRCm39)	R650S	probably damaging	Het
Nek10	T	A	14: 14,840,574 (GRCm38)	H153Q	probably benign	Het
Nelfe	A	G	17: 35,072,962 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,250,515 (GRCm39)		probably benign	Het
Nos1	T	C	5: 118,048,153 (GRCm39)	S653P	probably damaging	Het
Or5p76	A	G	7: 108,122,420 (GRCm39)	S246P	probably damaging	Het
Or8b101	A	T	9: 38,020,390 (GRCm39)	Y131F	possibly damaging	Het
Pcsk5	C	A	19: 17,632,225 (GRCm39)	G314C	probably damaging	Het
Ralgps1	A	G	2: 33,033,401 (GRCm39)	S393P	probably damaging	Het
Slc44a4	G	A	17: 35,140,230 (GRCm39)	A60T	probably damaging	Het
Slc4a4	G	A	5: 89,186,437 (GRCm39)	D173N	probably damaging	Het
Sparcl1	T	A	5: 104,234,946 (GRCm39)	Q523L	probably damaging	Het
Srgap3	A	G	6: 112,806,473 (GRCm39)	Y63H	probably damaging	Het
Trim16	A	G	11: 62,719,944 (GRCm39)	M84V	probably benign	Het
Trpm3	G	A	19: 22,964,893 (GRCm39)	A1453T	probably benign	Het
Ttn	C	T	2: 76,710,548 (GRCm39)		probably benign	Het

Other mutations in Cyp2c66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Cyp2c66	APN	19	39,159,405 (GRCm39)	missense	probably benign	0.00
IGL01589:Cyp2c66	APN	19	39,172,379 (GRCm39)	critical splice donor site	probably null
IGL02098:Cyp2c66	APN	19	39,159,473 (GRCm39)	missense	probably damaging	1.00
IGL02114:Cyp2c66	APN	19	39,159,519 (GRCm39)	splice site	probably benign
IGL02567:Cyp2c66	APN	19	39,175,084 (GRCm39)	utr 3 prime	probably benign
IGL03181:Cyp2c66	APN	19	39,130,483 (GRCm39)	missense	probably benign	0.00
IGL03230:Cyp2c66	APN	19	39,172,302 (GRCm39)	missense	possibly damaging	0.91
R0092:Cyp2c66	UTSW	19	39,172,224 (GRCm39)	splice site	probably benign
R0242:Cyp2c66	UTSW	19	39,130,369 (GRCm39)	missense	probably damaging	1.00
R0242:Cyp2c66	UTSW	19	39,130,369 (GRCm39)	missense	probably damaging	1.00
R0324:Cyp2c66	UTSW	19	39,165,135 (GRCm39)	missense	probably benign	0.27
R0675:Cyp2c66	UTSW	19	39,175,060 (GRCm39)	missense	possibly damaging	0.93
R1127:Cyp2c66	UTSW	19	39,151,812 (GRCm39)	missense	probably damaging	1.00
R1871:Cyp2c66	UTSW	19	39,151,858 (GRCm39)	missense	possibly damaging	0.66
R3404:Cyp2c66	UTSW	19	39,151,771 (GRCm39)	missense	probably benign
R3429:Cyp2c66	UTSW	19	39,151,892 (GRCm39)	missense	probably damaging	0.97
R3896:Cyp2c66	UTSW	19	39,130,722 (GRCm39)	missense	possibly damaging	0.82
R4115:Cyp2c66	UTSW	19	39,165,003 (GRCm39)	missense	possibly damaging	0.66
R4116:Cyp2c66	UTSW	19	39,165,003 (GRCm39)	missense	possibly damaging	0.66
R4667:Cyp2c66	UTSW	19	39,165,100 (GRCm39)	missense	probably damaging	1.00
R4668:Cyp2c66	UTSW	19	39,165,100 (GRCm39)	missense	probably damaging	1.00
R4711:Cyp2c66	UTSW	19	39,151,843 (GRCm39)	missense	possibly damaging	0.74
R4960:Cyp2c66	UTSW	19	39,151,766 (GRCm39)	critical splice acceptor site	probably null
R5070:Cyp2c66	UTSW	19	39,151,914 (GRCm39)	missense	probably benign	0.15
R5113:Cyp2c66	UTSW	19	39,151,882 (GRCm39)	missense	probably benign	0.00
R5125:Cyp2c66	UTSW	19	39,159,473 (GRCm39)	missense	probably damaging	1.00
R5178:Cyp2c66	UTSW	19	39,159,473 (GRCm39)	missense	probably damaging	1.00
R5588:Cyp2c66	UTSW	19	39,151,858 (GRCm39)	missense	possibly damaging	0.66
R6011:Cyp2c66	UTSW	19	39,130,380 (GRCm39)	missense	probably benign	0.00
R6497:Cyp2c66	UTSW	19	39,151,821 (GRCm39)	missense	probably damaging	0.96
R6707:Cyp2c66	UTSW	19	39,174,944 (GRCm39)	missense	probably damaging	1.00
R7173:Cyp2c66	UTSW	19	39,159,401 (GRCm39)	missense	probably benign	0.01
R7202:Cyp2c66	UTSW	19	39,130,348 (GRCm39)	missense	probably damaging	1.00
R7469:Cyp2c66	UTSW	19	39,172,307 (GRCm39)	missense	probably damaging	1.00
R7614:Cyp2c66	UTSW	19	39,159,472 (GRCm39)	missense	probably damaging	0.98
R7985:Cyp2c66	UTSW	19	39,102,430 (GRCm39)	missense	probably null	1.00
R8012:Cyp2c66	UTSW	19	39,172,369 (GRCm39)	missense	probably damaging	1.00
R8056:Cyp2c66	UTSW	19	39,130,485 (GRCm39)	missense	probably benign	0.00
R8302:Cyp2c66	UTSW	19	39,165,078 (GRCm39)	missense	probably damaging	1.00
R8329:Cyp2c66	UTSW	19	39,174,906 (GRCm39)	nonsense	probably null
R8365:Cyp2c66	UTSW	19	39,165,048 (GRCm39)	missense	probably benign	0.00
R8472:Cyp2c66	UTSW	19	39,165,021 (GRCm39)	missense	probably benign	0.03
R8502:Cyp2c66	UTSW	19	39,130,773 (GRCm39)	missense	probably benign	0.01
R8688:Cyp2c66	UTSW	19	39,151,884 (GRCm39)	missense	probably benign	0.00
R8715:Cyp2c66	UTSW	19	39,159,388 (GRCm39)	missense	probably benign	0.01
R9199:Cyp2c66	UTSW	19	39,130,800 (GRCm39)	missense	probably benign	0.16
R9551:Cyp2c66	UTSW	19	39,172,246 (GRCm39)	missense	probably damaging	0.99
R9552:Cyp2c66	UTSW	19	39,172,246 (GRCm39)	missense	probably damaging	0.99
R9601:Cyp2c66	UTSW	19	39,175,054 (GRCm39)	missense	probably benign
R9777:Cyp2c66	UTSW	19	39,102,520 (GRCm39)	missense	probably benign	0.15
Z1177:Cyp2c66	UTSW	19	39,175,070 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACACGTATCTCCTGAACATAGGTCAGT -3'
(R):5'- AGCAGATTGTAGTGCCACAAAAGGTTA -3'

Sequencing Primer
(F):5'- CCTGAACATAGGTCAGTTTCTTC -3'
(R):5'- GTGCCACAAAAGGTTAAATTCTGAG -3'

Posted On

2013-08-06