Mutagenetix > Incidental Mutation

Incidental Mutation 'R8472:Cyp2c66'

657105

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c66

Ensembl Gene

ENSMUSG00000067229

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 66

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R8472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39113898-39187072 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39176577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 334 (H334L)

Ref Sequence

ENSEMBL: ENSMUSP00000084487 (fasta)

Gene Model

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

AlphaFold

Q5GLZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000087234
AA Change: H334L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000084487
Gene: ENSMUSG00000067229
AA Change: H334L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,512,641	H21Q	possibly damaging	Het
Ccdc7a	A	G	8: 129,027,657	S152P	probably damaging	Het
Ccnj	T	C	19: 40,845,164	S222P	probably damaging	Het
Cdcp2	C	T	4: 107,102,784	A132V	probably damaging	Het
Cnksr3	G	T	10: 7,134,532	P71Q	probably damaging	Het
Col9a3	C	T	2: 180,605,264	P185L	probably damaging	Het
Cpm	T	C	10: 117,679,978	V319A	probably damaging	Het
Ctxn2	A	G	2: 125,147,608	I52V	possibly damaging	Het
Dab1	A	G	4: 104,479,242	K12E	possibly damaging	Het
Emsy	T	C	7: 98,654,830		probably benign	Het
Etv4	G	T	11: 101,784,001	D56E	probably damaging	Het
Exoc3l2	C	T	7: 19,481,265	R484*	probably null	Het
Extl1	A	G	4: 134,371,292	C143R	probably benign	Het
Fat3	T	C	9: 16,375,267	I987V	possibly damaging	Het
Fbn1	A	C	2: 125,309,802	C2511G	probably damaging	Het
Fer	T	A	17: 63,973,149	S72T	probably benign	Het
Gdf2	A	G	14: 33,944,840	D173G	probably damaging	Het
Gm11639	A	T	11: 104,818,637	D1815V	probably benign	Het
Gm6614	T	G	6: 142,003,389	H87P	probably damaging	Het
Grhl3	T	C	4: 135,556,865	E222G	probably benign	Het
Gria1	A	T	11: 57,327,584	M819L	probably benign	Het
Gsap	A	T	5: 21,222,434	R187*	probably null	Het
Heatr6	A	G	11: 83,765,853	N314D	probably benign	Het
Hspd1	T	C	1: 55,078,346	D555G	probably benign	Het
Ighv3-4	T	C	12: 114,254,029	Y8C	probably benign	Het
Lcmt2	A	G	2: 121,140,248	V118A	probably damaging	Het
Lmf2	T	C	15: 89,354,802	E37G	possibly damaging	Het
Macf1	A	G	4: 123,453,002	L1161P	probably damaging	Het
Mbip	T	A	12: 56,330,269		probably null	Het
Mgam	A	T	6: 40,694,526		probably null	Het
Mmrn1	G	A	6: 60,988,396	S1136N	probably damaging	Het
Mms22l	T	C	4: 24,502,943	V73A	possibly damaging	Het
Mtbp	C	T	15: 55,586,352	L24F	probably damaging	Het
Ncr1	T	A	7: 4,338,121	I37N	probably benign	Het
Nkx3-1	A	G	14: 69,192,058	N175S	probably damaging	Het
Nlrp4f	A	G	13: 65,194,331	I500T	possibly damaging	Het
Olfr397	C	T	11: 73,965,397	S263L	possibly damaging	Het
Olfr518	T	A	7: 108,880,766	Q280L	possibly damaging	Het
Olfr820	A	G	10: 130,017,576	T72A	probably damaging	Het
Pcdha2	A	G	18: 36,941,272	D652G	probably damaging	Het
Pde6a	T	A	18: 61,220,946	N114K	probably damaging	Het
Pdp2	A	G	8: 104,594,281	E254G	probably benign	Het
Pip5kl1	T	C	2: 32,580,006	V241A	probably benign	Het
Prkdc	T	A	16: 15,651,536	D168E	probably damaging	Het
Psg27	A	T	7: 18,562,090	H143Q	probably benign	Het
Serpina16	T	A	12: 103,672,537	I264F	probably benign	Het
Slc25a41	G	A	17: 57,041,582	H4Y	probably benign	Het
Smc3	T	G	19: 53,628,711	H518Q	probably benign	Het
Snrpb	G	T	2: 130,173,122	T158K	probably damaging	Het
Sobp	A	G	10: 43,022,396	F398L	probably damaging	Het
Spidr	T	A	16: 16,140,727	Q57L	probably benign	Het
Srd5a3	T	G	5: 76,149,801	V26G	possibly damaging	Het
Stx17	A	G	4: 48,166,972	T131A	probably benign	Het
Susd1	A	G	4: 59,332,985	L553P	possibly damaging	Het
Tbc1d30	C	A	10: 121,351,104	G59C	probably benign	Het
Tekt1	T	C	11: 72,352,024	D219G	possibly damaging	Het
Trav9d-1	A	T	14: 52,792,706	D89V	possibly damaging	Het
Trim34b	T	C	7: 104,331,338	I211T	probably benign	Het
Vmn1r25	A	T	6: 57,978,546	L253M	possibly damaging	Het
Vmn1r56	C	T	7: 5,195,905	V238M	probably damaging	Het
Wipf3	A	G	6: 54,489,085	I443V	probably benign	Het

Other mutations in Cyp2c66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Cyp2c66	APN	19	39170961	missense	probably benign	0.00
IGL01589:Cyp2c66	APN	19	39183935	critical splice donor site	probably null
IGL02098:Cyp2c66	APN	19	39171029	missense	probably damaging	1.00
IGL02114:Cyp2c66	APN	19	39171075	splice site	probably benign
IGL02567:Cyp2c66	APN	19	39186640	utr 3 prime	probably benign
IGL03181:Cyp2c66	APN	19	39142039	missense	probably benign	0.00
IGL03230:Cyp2c66	APN	19	39183858	missense	possibly damaging	0.91
R0007:Cyp2c66	UTSW	19	39170958	nonsense	probably null
R0092:Cyp2c66	UTSW	19	39183780	splice site	probably benign
R0242:Cyp2c66	UTSW	19	39141925	missense	probably damaging	1.00
R0242:Cyp2c66	UTSW	19	39141925	missense	probably damaging	1.00
R0324:Cyp2c66	UTSW	19	39176691	missense	probably benign	0.27
R0675:Cyp2c66	UTSW	19	39186616	missense	possibly damaging	0.93
R1127:Cyp2c66	UTSW	19	39163368	missense	probably damaging	1.00
R1871:Cyp2c66	UTSW	19	39163414	missense	possibly damaging	0.66
R3404:Cyp2c66	UTSW	19	39163327	missense	probably benign
R3429:Cyp2c66	UTSW	19	39163448	missense	probably damaging	0.97
R3896:Cyp2c66	UTSW	19	39142278	missense	possibly damaging	0.82
R4115:Cyp2c66	UTSW	19	39176559	missense	possibly damaging	0.66
R4116:Cyp2c66	UTSW	19	39176559	missense	possibly damaging	0.66
R4667:Cyp2c66	UTSW	19	39176656	missense	probably damaging	1.00
R4668:Cyp2c66	UTSW	19	39176656	missense	probably damaging	1.00
R4711:Cyp2c66	UTSW	19	39163399	missense	possibly damaging	0.74
R4960:Cyp2c66	UTSW	19	39163322	critical splice acceptor site	probably null
R5070:Cyp2c66	UTSW	19	39163470	missense	probably benign	0.15
R5113:Cyp2c66	UTSW	19	39163438	missense	probably benign	0.00
R5125:Cyp2c66	UTSW	19	39171029	missense	probably damaging	1.00
R5178:Cyp2c66	UTSW	19	39171029	missense	probably damaging	1.00
R5588:Cyp2c66	UTSW	19	39163414	missense	possibly damaging	0.66
R6011:Cyp2c66	UTSW	19	39141936	missense	probably benign	0.00
R6497:Cyp2c66	UTSW	19	39163377	missense	probably damaging	0.96
R6707:Cyp2c66	UTSW	19	39186500	missense	probably damaging	1.00
R7173:Cyp2c66	UTSW	19	39170957	missense	probably benign	0.01
R7202:Cyp2c66	UTSW	19	39141904	missense	probably damaging	1.00
R7469:Cyp2c66	UTSW	19	39183863	missense	probably damaging	1.00
R7614:Cyp2c66	UTSW	19	39171028	missense	probably damaging	0.98
R7985:Cyp2c66	UTSW	19	39113986	missense	probably null	1.00
R8012:Cyp2c66	UTSW	19	39183925	missense	probably damaging	1.00
R8056:Cyp2c66	UTSW	19	39142041	missense	probably benign	0.00
R8302:Cyp2c66	UTSW	19	39176634	missense	probably damaging	1.00
R8329:Cyp2c66	UTSW	19	39186462	nonsense	probably null
R8365:Cyp2c66	UTSW	19	39176604	missense	probably benign	0.00
R8502:Cyp2c66	UTSW	19	39142329	missense	probably benign	0.01
R8688:Cyp2c66	UTSW	19	39163440	missense	probably benign	0.00
R8715:Cyp2c66	UTSW	19	39170944	missense	probably benign	0.01
R9199:Cyp2c66	UTSW	19	39142356	missense	probably benign	0.16
R9551:Cyp2c66	UTSW	19	39183802	missense	probably damaging	0.99
R9552:Cyp2c66	UTSW	19	39183802	missense	probably damaging	0.99
R9601:Cyp2c66	UTSW	19	39186610	missense	probably benign
R9777:Cyp2c66	UTSW	19	39114076	missense	probably benign	0.15
Z1177:Cyp2c66	UTSW	19	39186626	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATCACAGCAACTGTCACTTCATTAG -3'
(R):5'- TGGGCAAGTGATCTAGTTTCAC -3'

Sequencing Primer
(F):5'- GTCAAGCATCTTCATCTTGC -3'
(R):5'- TTTGAGATCAAGAGCATTAAGGCAC -3'

Posted On

2021-01-18