Mutagenetix > Incidental Mutation

Incidental Mutation 'R8367:Cyp2c67'

646233

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

067874-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39597288-39637497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39627118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 237 (H237Q)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067328]

AlphaFold

Q569X9

Predicted Effect

probably benign
Transcript: ENSMUST00000067328
AA Change: H237Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: H237Q

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	8.5e-150	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	A	2: 152,284,417 (GRCm39)		probably null	Het
8030423J24Rik	A	T	13: 71,032,096 (GRCm39)	E56V	unknown	Het
Abcb1a	A	G	5: 8,736,221 (GRCm39)	T205A	probably benign	Het
Aplp2	T	C	9: 31,089,202 (GRCm39)	E93G	probably damaging	Het
Arpin	T	A	7: 79,579,386 (GRCm39)	N79I	possibly damaging	Het
Atg7	T	A	6: 114,663,060 (GRCm39)	D225E	probably benign	Het
Bltp3b	T	A	10: 89,641,239 (GRCm39)	D803E	probably damaging	Het
Cc2d2b	A	G	19: 40,754,419 (GRCm39)	M229V	unknown	Het
Cep295	C	T	9: 15,245,826 (GRCm39)	V877I	probably benign	Het
Clca3a2	A	T	3: 144,523,508 (GRCm39)		probably null	Het
Cmip	C	T	8: 118,163,610 (GRCm39)	P359L	probably benign	Het
Cyb5rl	A	G	4: 106,928,146 (GRCm39)	Y94C	probably benign	Het
Cyp19a1	A	G	9: 54,087,543 (GRCm39)	I125T	probably damaging	Het
Cyp2c54	T	G	19: 40,062,125 (GRCm39)	Q44P	probably damaging	Het
Dlgap2	A	T	8: 14,893,544 (GRCm39)	Y953F	probably benign	Het
Hgfac	G	T	5: 35,202,790 (GRCm39)	C430F	probably damaging	Het
Kdm4b	T	C	17: 56,662,875 (GRCm39)	W149R	probably damaging	Het
Krt23	C	T	11: 99,383,715 (GRCm39)	W59*	probably null	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lrrc7	T	A	3: 157,908,007 (GRCm39)	Q271L	possibly damaging	Het
Ltc4s	C	A	11: 50,127,511 (GRCm39)	R108L	possibly damaging	Het
Mcm3ap	T	C	10: 76,313,693 (GRCm39)	S596P	possibly damaging	Het
Myot	A	G	18: 44,470,166 (GRCm39)	T48A	probably benign	Het
Mypn	G	C	10: 62,971,539 (GRCm39)	P834A	probably damaging	Het
Or5d16	T	C	2: 87,773,441 (GRCm39)	N177S	possibly damaging	Het
Or8k30	C	T	2: 86,339,025 (GRCm39)	S74L	probably damaging	Het
Parp14	T	C	16: 35,678,124 (GRCm39)	K615E	probably benign	Het
Pramel6	A	C	2: 87,340,814 (GRCm39)	Q382P	probably damaging	Het
Prdx2	A	G	8: 85,698,244 (GRCm39)	D145G	probably damaging	Het
Prune1	A	G	3: 95,172,837 (GRCm39)	V76A	probably benign	Het
Sppl2b	A	T	10: 80,699,025 (GRCm39)	H198L	probably benign	Het
Ttll9	C	A	2: 152,836,068 (GRCm39)	H271N	probably benign	Het
Vmn2r59	C	A	7: 41,661,247 (GRCm39)	R856M	probably benign	Het
Yeats2	C	T	16: 20,041,575 (GRCm39)	T1155I	probably damaging	Het
Zbbx	A	G	3: 74,989,034 (GRCm39)		probably null	Het
Zfp160	A	G	17: 21,245,804 (GRCm39)	D118G	probably benign	Het
Zfp366	A	G	13: 99,380,551 (GRCm39)	M549V	possibly damaging	Het
Zp3r	A	G	1: 130,526,610 (GRCm39)	S198P	probably damaging	Het

Other mutations in Cyp2c67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Cyp2c67	APN	19	39,631,829 (GRCm39)	missense	possibly damaging	0.95
IGL01025:Cyp2c67	APN	19	39,628,376 (GRCm39)	nonsense	probably null
IGL01363:Cyp2c67	APN	19	39,628,411 (GRCm39)	missense	probably damaging	0.99
IGL01819:Cyp2c67	APN	19	39,604,165 (GRCm39)	missense	probably damaging	0.98
IGL01902:Cyp2c67	APN	19	39,637,470 (GRCm39)	missense	probably damaging	1.00
IGL02172:Cyp2c67	APN	19	39,637,446 (GRCm39)	missense	possibly damaging	0.76
IGL02351:Cyp2c67	APN	19	39,605,861 (GRCm39)	missense	probably damaging	1.00
IGL02355:Cyp2c67	APN	19	39,605,826 (GRCm39)	nonsense	probably null
IGL02355:Cyp2c67	APN	19	39,631,849 (GRCm39)	missense	probably benign	0.34
IGL02358:Cyp2c67	APN	19	39,605,861 (GRCm39)	missense	probably damaging	1.00
IGL02362:Cyp2c67	APN	19	39,605,826 (GRCm39)	nonsense	probably null
IGL02362:Cyp2c67	APN	19	39,631,849 (GRCm39)	missense	probably benign	0.34
IGL02388:Cyp2c67	APN	19	39,631,799 (GRCm39)	missense	probably benign	0.20
IGL03106:Cyp2c67	APN	19	39,632,119 (GRCm39)	missense	probably benign	0.27
IGL03219:Cyp2c67	APN	19	39,631,738 (GRCm39)	missense	possibly damaging	0.54
IGL03326:Cyp2c67	APN	19	39,631,713 (GRCm39)	critical splice donor site	probably null
IGL03349:Cyp2c67	APN	19	39,632,128 (GRCm39)	missense	probably damaging	1.00
IGL03356:Cyp2c67	APN	19	39,628,405 (GRCm39)	missense	probably damaging	1.00
IGL03052:Cyp2c67	UTSW	19	39,637,329 (GRCm39)	missense	possibly damaging	0.88
R0585:Cyp2c67	UTSW	19	39,627,138 (GRCm39)	missense	possibly damaging	0.59
R0975:Cyp2c67	UTSW	19	39,597,622 (GRCm39)	missense	possibly damaging	0.49
R0976:Cyp2c67	UTSW	19	39,631,818 (GRCm39)	missense	probably damaging	1.00
R1252:Cyp2c67	UTSW	19	39,614,585 (GRCm39)	missense	possibly damaging	0.93
R1398:Cyp2c67	UTSW	19	39,627,069 (GRCm39)	missense	probably damaging	0.96
R1411:Cyp2c67	UTSW	19	39,627,035 (GRCm39)	missense	probably damaging	1.00
R1505:Cyp2c67	UTSW	19	39,637,408 (GRCm39)	missense	probably benign	0.00
R1543:Cyp2c67	UTSW	19	39,631,708 (GRCm39)	splice site	probably benign
R1613:Cyp2c67	UTSW	19	39,614,643 (GRCm39)	missense	probably benign	0.00
R1618:Cyp2c67	UTSW	19	39,631,708 (GRCm39)	splice site	probably benign
R1667:Cyp2c67	UTSW	19	39,632,034 (GRCm39)	critical splice donor site	probably null
R1852:Cyp2c67	UTSW	19	39,605,811 (GRCm39)	missense	probably benign	0.01
R2005:Cyp2c67	UTSW	19	39,631,789 (GRCm39)	missense	probably damaging	1.00
R2105:Cyp2c67	UTSW	19	39,614,681 (GRCm39)	missense	probably benign	0.24
R2181:Cyp2c67	UTSW	19	39,597,541 (GRCm39)	missense	possibly damaging	0.94
R3817:Cyp2c67	UTSW	19	39,627,127 (GRCm39)	missense	probably benign	0.00
R4669:Cyp2c67	UTSW	19	39,632,098 (GRCm39)	missense	probably benign	0.00
R4689:Cyp2c67	UTSW	19	39,627,032 (GRCm39)	missense	probably benign	0.00
R4756:Cyp2c67	UTSW	19	39,632,188 (GRCm39)	missense	probably benign	0.03
R4823:Cyp2c67	UTSW	19	39,604,168 (GRCm39)	missense	probably benign	0.13
R5152:Cyp2c67	UTSW	19	39,627,132 (GRCm39)	missense	probably benign	0.00
R5345:Cyp2c67	UTSW	19	39,614,676 (GRCm39)	missense	probably benign	0.01
R5580:Cyp2c67	UTSW	19	39,604,094 (GRCm39)	missense	probably damaging	0.99
R5644:Cyp2c67	UTSW	19	39,604,138 (GRCm39)	missense	possibly damaging	0.84
R6116:Cyp2c67	UTSW	19	39,605,879 (GRCm39)	missense	probably damaging	1.00
R6516:Cyp2c67	UTSW	19	39,605,873 (GRCm39)	missense	probably damaging	1.00
R6550:Cyp2c67	UTSW	19	39,605,854 (GRCm39)	nonsense	probably null
R6939:Cyp2c67	UTSW	19	39,631,778 (GRCm39)	missense	possibly damaging	0.68
R6995:Cyp2c67	UTSW	19	39,604,123 (GRCm39)	missense	probably damaging	0.96
R7028:Cyp2c67	UTSW	19	39,628,341 (GRCm39)	missense	possibly damaging	0.68
R7144:Cyp2c67	UTSW	19	39,604,138 (GRCm39)	missense	probably benign	0.00
R7242:Cyp2c67	UTSW	19	39,605,783 (GRCm39)	missense	probably benign	0.30
R7335:Cyp2c67	UTSW	19	39,628,451 (GRCm39)	nonsense	probably null
R7337:Cyp2c67	UTSW	19	39,597,708 (GRCm39)	splice site	probably null
R7474:Cyp2c67	UTSW	19	39,605,876 (GRCm39)	missense	probably null	0.05
R7642:Cyp2c67	UTSW	19	39,604,084 (GRCm39)	missense	probably damaging	0.97
R7870:Cyp2c67	UTSW	19	39,597,669 (GRCm39)	missense	probably damaging	1.00
R8152:Cyp2c67	UTSW	19	39,628,452 (GRCm39)	missense	probably benign	0.21
R8717:Cyp2c67	UTSW	19	39,627,155 (GRCm39)	missense	probably benign	0.05
R8728:Cyp2c67	UTSW	19	39,614,605 (GRCm39)	missense	probably damaging	1.00
R9275:Cyp2c67	UTSW	19	39,597,699 (GRCm39)	missense	probably damaging	1.00
R9278:Cyp2c67	UTSW	19	39,597,699 (GRCm39)	missense	probably damaging	1.00
R9376:Cyp2c67	UTSW	19	39,627,178 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp2c67	UTSW	19	39,632,123 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CACAAAATCACTCTGTTTCTCTCAG -3'
(R):5'- GGTTATTCAAACGTGTAGAACAGAG -3'

Sequencing Primer
(F):5'- TCTCTCAGACATTCCCACACATG -3'
(R):5'- ACACTCAAAAGATATGTGAGTGTG -3'

Posted On

2020-09-02