Mutagenetix > Incidental Mutation

Incidental Mutation 'R8756:Cyp2c65'

664190

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c65

Ensembl Gene

ENSMUSG00000067231

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 65

Synonyms

2210009K14Rik

MMRRC Submission

068597-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39049459-39082388 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 39049552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 27 (R27*)

Ref Sequence

ENSEMBL: ENSMUSP00000084489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087236]

AlphaFold

Q148B1

Predicted Effect

probably null
Transcript: ENSMUST00000087236
AA Change: R27*

SMART Domains

Protein: ENSMUSP00000084489
Gene: ENSMUSG00000067231
AA Change: R27*

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	2.1e-160	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr1	A	T	6: 87,165,235 (GRCm39)	S401T	probably damaging	Het
Armh1	T	A	4: 117,094,861 (GRCm39)	I60L	probably benign	Het
Atp8b5	T	C	4: 43,342,439 (GRCm39)	V370A	probably damaging	Het
Atraid	T	A	5: 31,211,385 (GRCm39)	Y184N	probably damaging	Het
Cp	G	C	3: 20,059,736 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,903,767 (GRCm39)	I1824T	probably benign	Het
Dtl	T	C	1: 191,271,371 (GRCm39)	H725R	probably benign	Het
Dync1h1	G	T	12: 110,583,261 (GRCm39)	A453S	probably benign	Het
Fat3	T	A	9: 16,287,885 (GRCm39)	D546V	probably damaging	Het
Flt1	T	C	5: 147,576,224 (GRCm39)	T595A	probably benign	Het
Gtf2ird2	C	T	5: 134,226,090 (GRCm39)	P179S	possibly damaging	Het
Hoga1	A	G	19: 42,048,716 (GRCm39)	I145V	probably benign	Het
Igfn1	G	T	1: 135,895,698 (GRCm39)	Q1623K	probably benign	Het
Jsrp1	T	A	10: 80,647,940 (GRCm39)		probably null	Het
Krt90	A	C	15: 101,470,779 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,808,810 (GRCm39)	S514T	probably benign	Het
Mad2l1	T	C	6: 66,512,569 (GRCm39)	V20A	probably damaging	Het
Malrd1	T	C	2: 15,757,706 (GRCm39)		probably null	Het
Matn2	A	C	15: 34,423,876 (GRCm39)	E578A	possibly damaging	Het
Myof	A	T	19: 37,928,400 (GRCm39)	W1050R	probably benign	Het
Nemp1	T	A	10: 127,528,845 (GRCm39)	I183N	probably benign	Het
Nid1	A	G	13: 13,683,386 (GRCm39)	T1155A	probably benign	Het
Nsd1	T	C	13: 55,461,506 (GRCm39)	S2681P	probably benign	Het
Onecut3	C	A	10: 80,349,750 (GRCm39)	R415S	probably damaging	Het
Or2d2	T	C	7: 106,728,019 (GRCm39)	T194A	probably benign	Het
Or4s2	T	A	2: 88,473,183 (GRCm39)	V24E	possibly damaging	Het
Pclo	T	A	5: 14,764,398 (GRCm39)	S1005R		Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
R3hcc1l	G	A	19: 42,552,073 (GRCm39)	V357M	probably damaging	Het
Sec63	C	T	10: 42,686,905 (GRCm39)	T475M	possibly damaging	Het
Serpinh1	A	G	7: 98,996,359 (GRCm39)	Y242H	probably damaging	Het
Slit2	G	T	5: 48,459,829 (GRCm39)	E1370*	probably null	Het
Sos2	C	A	12: 69,695,310 (GRCm39)	L142F	probably damaging	Het
Spag4	T	C	2: 155,908,493 (GRCm39)	L141P	possibly damaging	Het
Sun1	T	C	5: 139,222,444 (GRCm39)	L570P	probably damaging	Het
Tars2	A	G	3: 95,648,672 (GRCm39)	V662A	probably benign	Het
Tmem245	C	A	4: 56,899,025 (GRCm39)		probably null	Het
Tpp2	T	A	1: 43,999,295 (GRCm39)	Y356*	probably null	Het
Trafd1	T	C	5: 121,513,878 (GRCm39)	E303G	probably damaging	Het
Trim71	T	C	9: 114,342,605 (GRCm39)	E559G	possibly damaging	Het
Ush2a	T	A	1: 188,644,141 (GRCm39)	V4501E	possibly damaging	Het
Vegfa	T	C	17: 46,342,465 (GRCm39)	T118A	probably damaging	Het
Vmn2r124	A	T	17: 18,294,094 (GRCm39)	H727L	probably benign	Het
Zdhhc2	T	A	8: 40,920,551 (GRCm39)	V270E	probably damaging	Het
Zfp112	T	C	7: 23,824,997 (GRCm39)	S326P	probably benign	Het
Zfp37	T	C	4: 62,110,371 (GRCm39)	D272G	possibly damaging	Het

Other mutations in Cyp2c65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Cyp2c65	APN	19	39,060,621 (GRCm39)	critical splice acceptor site	probably null
IGL01124:Cyp2c65	APN	19	39,081,954 (GRCm39)	utr 3 prime	probably benign
IGL01895:Cyp2c65	APN	19	39,060,676 (GRCm39)	missense	possibly damaging	0.90
IGL02544:Cyp2c65	APN	19	39,079,082 (GRCm39)	missense	probably damaging	1.00
R0172:Cyp2c65	UTSW	19	39,076,100 (GRCm39)	missense	possibly damaging	0.86
R0378:Cyp2c65	UTSW	19	39,061,662 (GRCm39)	missense	probably benign	0.19
R0517:Cyp2c65	UTSW	19	39,070,792 (GRCm39)	splice site	probably benign
R0585:Cyp2c65	UTSW	19	39,057,686 (GRCm39)	missense	probably benign	0.00
R1770:Cyp2c65	UTSW	19	39,070,642 (GRCm39)	missense	probably benign	0.07
R2051:Cyp2c65	UTSW	19	39,070,675 (GRCm39)	missense	probably benign	0.12
R2310:Cyp2c65	UTSW	19	39,081,826 (GRCm39)	missense	probably benign	0.02
R2911:Cyp2c65	UTSW	19	39,076,126 (GRCm39)	missense	probably damaging	0.96
R4208:Cyp2c65	UTSW	19	39,079,099 (GRCm39)	missense	probably damaging	1.00
R4258:Cyp2c65	UTSW	19	39,081,872 (GRCm39)	missense	probably benign	0.41
R4734:Cyp2c65	UTSW	19	39,060,778 (GRCm39)	missense	probably benign	0.00
R4821:Cyp2c65	UTSW	19	39,060,635 (GRCm39)	missense	probably damaging	1.00
R4926:Cyp2c65	UTSW	19	39,049,597 (GRCm39)	missense	probably benign	0.00
R5060:Cyp2c65	UTSW	19	39,049,514 (GRCm39)	missense	unknown
R5091:Cyp2c65	UTSW	19	39,076,009 (GRCm39)	critical splice acceptor site	probably null
R5433:Cyp2c65	UTSW	19	39,081,928 (GRCm39)	missense	probably benign	0.00
R6051:Cyp2c65	UTSW	19	39,049,610 (GRCm39)	missense	probably benign	0.29
R6182:Cyp2c65	UTSW	19	39,049,606 (GRCm39)	missense	probably benign	0.18
R6400:Cyp2c65	UTSW	19	39,049,558 (GRCm39)	missense	possibly damaging	0.80
R6586:Cyp2c65	UTSW	19	39,070,662 (GRCm39)	missense	possibly damaging	0.89
R6672:Cyp2c65	UTSW	19	39,076,118 (GRCm39)	missense	probably damaging	1.00
R6850:Cyp2c65	UTSW	19	39,057,535 (GRCm39)	missense	probably benign	0.15
R8075:Cyp2c65	UTSW	19	39,060,682 (GRCm39)	missense	probably benign	0.10
R9006:Cyp2c65	UTSW	19	39,070,714 (GRCm39)	missense	probably damaging	1.00
R9031:Cyp2c65	UTSW	19	39,061,663 (GRCm39)	nonsense	probably null
R9231:Cyp2c65	UTSW	19	39,060,661 (GRCm39)	missense	possibly damaging	0.92
R9663:Cyp2c65	UTSW	19	39,079,070 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGTTTTGTATCAGAGAATCACGG -3'
(R):5'- GCCCATCAAGCTTAGGTAACAG -3'

Sequencing Primer
(F):5'- ATCACGGATGTATTAGCAGTTGTCC -3'
(R):5'- TCTATTGTATAGAGCAGGCCCAGC -3'

Posted On

2021-03-08