Mutagenetix > Incidental Mutations

Incidental Mutation 'R8717:Cyp2c67'

669987

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R8717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39608842-39649051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39638711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 225 (Y225F)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

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

AlphaFold

Q569X9

Predicted Effect

probably benign
Transcript: ENSMUST00000067328
AA Change: Y225F

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: Y225F

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	A	G	9: 58,499,340	T178A	probably damaging	Het
A2ml1	A	G	6: 128,566,995	F528L	probably benign	Het
Aadacl3	T	G	4: 144,456,208	D230A	probably damaging	Het
Adgrf3	T	A	5: 30,198,581		probably benign	Het
Agtr1a	A	C	13: 30,381,374	T141P	probably damaging	Het
Ankfy1	T	A	11: 72,730,474	D195E	probably benign	Het
AY074887	G	A	9: 54,950,502	T113I	probably damaging	Het
Cacna1c	G	A	6: 119,057,353	A71V		Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cntrl	T	A	2: 35,113,339	V78E	probably benign	Het
Cyp2j13	T	A	4: 96,045,540	H369L	probably benign	Het
Dagla	T	C	19: 10,248,223	E859G	probably benign	Het
Duox1	C	A	2: 122,337,671	S1092R	possibly damaging	Het
Elfn2	C	A	15: 78,672,361	S662I	probably benign	Het
Epor	A	T	9: 21,959,445	C380S	probably benign	Het
Fam213a	G	A	14: 40,998,879	P126S	possibly damaging	Het
Fsd2	T	C	7: 81,540,342	E564G	probably benign	Het
Hace1	C	T	10: 45,605,598	T117I	unknown	Het
Ift172	A	G	5: 31,255,641	M1488T	probably benign	Het
Kdm3b	A	G	18: 34,819,787	E1070G	probably damaging	Het
Lrp6	A	G	6: 134,457,748	F1331L	probably benign	Het
Lrrc74a	G	A	12: 86,736,479	E33K	probably damaging	Het
Magel2	T	C	7: 62,377,672	M108T	unknown	Het
Mief1	T	C	15: 80,248,383	S127P	probably benign	Het
Mprip	T	C	11: 59,759,700	V1410A	probably benign	Het
Muc1	G	A	3: 89,231,514	V477M	possibly damaging	Het
Nat8f3	A	T	6: 85,761,705	M25K	possibly damaging	Het
Neb	T	G	2: 52,183,769	H5942P	probably damaging	Het
Nf2	A	T	11: 4,816,099	Y144N	probably damaging	Het
Nipbl	T	A	15: 8,338,741	M1166L	probably benign	Het
Npnt	A	T	3: 132,908,375	L206Q	probably damaging	Het
Olfr1288	A	G	2: 111,479,647	T288A	probably damaging	Het
Olfr1337	T	C	4: 118,781,799	Y262C	probably damaging	Het
Olfr808	T	A	10: 129,768,258	I254N	probably damaging	Het
Parg	A	G	14: 32,210,535	K444R	probably benign	Het
Pcbp4	A	T	9: 106,460,003		probably null	Het
Pcdhgb4	A	G	18: 37,720,794	S81G	probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plekho2	T	C	9: 65,556,776	N264D	probably benign	Het
Pmpca	T	A	2: 26,391,881	M182K	probably damaging	Het
Prdm10	A	G	9: 31,341,399	H476R	probably benign	Het
Rab7	T	C	6: 88,012,387	S34G	probably damaging	Het
Rbp3	G	A	14: 33,956,438	R781H	probably damaging	Het
Rngtt	T	A	4: 33,368,695	S409R	probably damaging	Het
Ryr1	C	A	7: 29,052,328	R3680L	probably benign	Het
Sbno1	T	C	5: 124,374,555	S1384G	possibly damaging	Het
Shmt1	T	C	11: 60,794,937	D271G	probably benign	Het
Sin3a	C	T	9: 57,127,226	R1228W	probably damaging	Het
Slc25a39	T	C	11: 102,403,794	R294G	probably benign	Het
Smcr8	T	A	11: 60,779,428	S467R	probably damaging	Het
Spaca7	A	G	8: 12,586,480	Y102C	probably damaging	Het
Tacr1	A	G	6: 82,403,725	Y39C	probably damaging	Het
Tenm3	G	A	8: 48,299,645	S894L	possibly damaging	Het
Tmem115	T	A	9: 107,537,933	M307K	possibly damaging	Het
Tnn	A	G	1: 160,116,276	V989A	possibly damaging	Het
Trabd2b	T	A	4: 114,602,989	N441K	probably damaging	Het
Ttll1	T	C	15: 83,489,508	K368R	probably benign	Het
Tubgcp2	C	T	7: 139,996,792	V858I	probably benign	Het
Ufsp2	G	T	8: 45,983,577	V122L	probably benign	Het
Wdr26	A	G	1: 181,184,348	C470R	possibly damaging	Het
Xab2	T	C	8: 3,613,845	H358R	probably benign	Het
Xrcc5	A	G	1: 72,383,746	I697V	probably benign	Het

Other mutations in Cyp2c67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Cyp2c67	APN	19	39643385	missense	possibly damaging	0.95
IGL01025:Cyp2c67	APN	19	39639932	nonsense	probably null
IGL01363:Cyp2c67	APN	19	39639967	missense	probably damaging	0.99
IGL01819:Cyp2c67	APN	19	39615721	missense	probably damaging	0.98
IGL01902:Cyp2c67	APN	19	39649026	missense	probably damaging	1.00
IGL02172:Cyp2c67	APN	19	39649002	missense	possibly damaging	0.76
IGL02351:Cyp2c67	APN	19	39617417	missense	probably damaging	1.00
IGL02355:Cyp2c67	APN	19	39643405	missense	probably benign	0.34
IGL02355:Cyp2c67	APN	19	39617382	nonsense	probably null
IGL02358:Cyp2c67	APN	19	39617417	missense	probably damaging	1.00
IGL02362:Cyp2c67	APN	19	39643405	missense	probably benign	0.34
IGL02362:Cyp2c67	APN	19	39617382	nonsense	probably null
IGL02388:Cyp2c67	APN	19	39643355	missense	probably benign	0.20
IGL03106:Cyp2c67	APN	19	39643675	missense	probably benign	0.27
IGL03219:Cyp2c67	APN	19	39643294	missense	possibly damaging	0.54
IGL03326:Cyp2c67	APN	19	39643269	critical splice donor site	probably null
IGL03349:Cyp2c67	APN	19	39643684	missense	probably damaging	1.00
IGL03356:Cyp2c67	APN	19	39639961	missense	probably damaging	1.00
IGL03052:Cyp2c67	UTSW	19	39648885	missense	possibly damaging	0.88
R0585:Cyp2c67	UTSW	19	39638694	missense	possibly damaging	0.59
R0975:Cyp2c67	UTSW	19	39609178	missense	possibly damaging	0.49
R0976:Cyp2c67	UTSW	19	39643374	missense	probably damaging	1.00
R1252:Cyp2c67	UTSW	19	39626141	missense	possibly damaging	0.93
R1398:Cyp2c67	UTSW	19	39638625	missense	probably damaging	0.96
R1411:Cyp2c67	UTSW	19	39638591	missense	probably damaging	1.00
R1505:Cyp2c67	UTSW	19	39648964	missense	probably benign	0.00
R1543:Cyp2c67	UTSW	19	39643264	splice site	probably benign
R1613:Cyp2c67	UTSW	19	39626199	missense	probably benign	0.00
R1618:Cyp2c67	UTSW	19	39643264	splice site	probably benign
R1667:Cyp2c67	UTSW	19	39643590	critical splice donor site	probably null
R1852:Cyp2c67	UTSW	19	39617367	missense	probably benign	0.01
R2005:Cyp2c67	UTSW	19	39643345	missense	probably damaging	1.00
R2105:Cyp2c67	UTSW	19	39626237	missense	probably benign	0.24
R2181:Cyp2c67	UTSW	19	39609097	missense	possibly damaging	0.94
R3817:Cyp2c67	UTSW	19	39638683	missense	probably benign	0.00
R4669:Cyp2c67	UTSW	19	39643654	missense	probably benign	0.00
R4689:Cyp2c67	UTSW	19	39638588	missense	probably benign	0.00
R4756:Cyp2c67	UTSW	19	39643744	missense	probably benign	0.03
R4823:Cyp2c67	UTSW	19	39615724	missense	probably benign	0.13
R5152:Cyp2c67	UTSW	19	39638688	missense	probably benign	0.00
R5345:Cyp2c67	UTSW	19	39626232	missense	probably benign	0.01
R5580:Cyp2c67	UTSW	19	39615650	missense	probably damaging	0.99
R5644:Cyp2c67	UTSW	19	39615694	missense	possibly damaging	0.84
R6116:Cyp2c67	UTSW	19	39617435	missense	probably damaging	1.00
R6516:Cyp2c67	UTSW	19	39617429	missense	probably damaging	1.00
R6550:Cyp2c67	UTSW	19	39617410	nonsense	probably null
R6939:Cyp2c67	UTSW	19	39643334	missense	possibly damaging	0.68
R6995:Cyp2c67	UTSW	19	39615679	missense	probably damaging	0.96
R7028:Cyp2c67	UTSW	19	39639897	missense	possibly damaging	0.68
R7144:Cyp2c67	UTSW	19	39615694	missense	probably benign	0.00
R7242:Cyp2c67	UTSW	19	39617339	missense	probably benign	0.30
R7335:Cyp2c67	UTSW	19	39640007	nonsense	probably null
R7337:Cyp2c67	UTSW	19	39609264	splice site	probably null
R7474:Cyp2c67	UTSW	19	39617432	missense	probably null	0.05
R7642:Cyp2c67	UTSW	19	39615640	missense	probably damaging	0.97
R7870:Cyp2c67	UTSW	19	39609225	missense	probably damaging	1.00
R8152:Cyp2c67	UTSW	19	39640008	missense	probably benign	0.21
R8367:Cyp2c67	UTSW	19	39638674	missense	probably benign	0.01
R8728:Cyp2c67	UTSW	19	39626161	missense	probably damaging	1.00
R9275:Cyp2c67	UTSW	19	39609255	missense	probably damaging	1.00
R9278:Cyp2c67	UTSW	19	39609255	missense	probably damaging	1.00
R9376:Cyp2c67	UTSW	19	39638734	missense	probably damaging	1.00
Z1177:Cyp2c67	UTSW	19	39643679	missense	possibly damaging	0.89

Predicted Primers

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

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

Posted On

2021-04-30