Mutagenetix > Incidental Mutation

Incidental Mutation 'R2230:Cyp2c68'

240021

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c68

Ensembl Gene

ENSMUSG00000074882

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 68

Synonyms

9030012A22Rik

MMRRC Submission

040231-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2230 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39677278-39729498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39687804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 398 (S398C)

Ref Sequence

ENSEMBL: ENSMUSP00000097071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099472]

AlphaFold

K7N6C2

Predicted Effect

probably benign
Transcript: ENSMUST00000099472
AA Change: S398C

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097071
Gene: ENSMUSG00000074882
AA Change: S398C

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	2.1e-150	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,521,347 (GRCm39)	N280K	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ankra2	T	C	13: 98,407,646 (GRCm39)	F199L	probably damaging	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Apoa2	A	G	1: 171,053,340 (GRCm39)	K53R	probably benign	Het
Atr	A	G	9: 95,802,818 (GRCm39)	R1827G	probably damaging	Het
Ccdc61	T	C	7: 18,625,032 (GRCm39)	E502G	probably damaging	Het
Ccn2	T	A	10: 24,472,371 (GRCm39)	M138K	possibly damaging	Het
Cdon	T	C	9: 35,403,222 (GRCm39)		probably null	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dock2	T	A	11: 34,244,323 (GRCm39)	I1036F	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Entrep2	G	A	7: 64,408,970 (GRCm39)	H475Y	probably damaging	Het
Ergic3	A	G	2: 155,859,736 (GRCm39)	T346A	probably damaging	Het
F2	T	C	2: 91,456,102 (GRCm39)	D553G	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Gm10650	A	G	3: 127,833,412 (GRCm39)		noncoding transcript	Het
Gm21850	G	T	2: 153,900,248 (GRCm39)	V202L	probably benign	Het
Hdc	T	A	2: 126,435,938 (GRCm39)	E644D	possibly damaging	Het
Hypk	G	A	2: 121,287,773 (GRCm39)		probably null	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
Mgll	G	A	6: 88,802,714 (GRCm39)	V318M	possibly damaging	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Musk	A	T	4: 58,333,672 (GRCm39)	I256F	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Myo5c	A	G	9: 75,180,888 (GRCm39)	D759G	probably benign	Het
Nkx2-1	G	A	12: 56,580,071 (GRCm39)	Q290*	probably null	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or10j7	A	G	1: 173,011,182 (GRCm39)	I273T	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or7g16	A	G	9: 18,727,021 (GRCm39)	S190P	probably damaging	Het
Or8c13	T	C	9: 38,091,442 (GRCm39)	T226A	probably benign	Het
Pabpc2	G	A	18: 39,908,123 (GRCm39)	V463I	probably benign	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plxnd1	C	A	6: 115,941,105 (GRCm39)	R1302L	probably damaging	Het
Pnpla7	T	C	2: 24,941,610 (GRCm39)		probably benign	Het
Ppl	G	A	16: 4,906,845 (GRCm39)	T1150I	possibly damaging	Het
Prkag2	G	T	5: 25,113,362 (GRCm39)	A113E	probably benign	Het
Proz	A	G	8: 13,113,356 (GRCm39)	Y59C	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sec14l5	A	G	16: 4,994,345 (GRCm39)	T380A	probably damaging	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sspo	C	A	6: 48,477,437 (GRCm39)	Q5123K	probably benign	Het
Tbc1d21	A	C	9: 58,270,363 (GRCm39)	N137K	probably damaging	Het
Tek	G	A	4: 94,699,573 (GRCm39)	C317Y	probably damaging	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Topbp1	T	A	9: 103,223,047 (GRCm39)	I1377N	probably damaging	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttf2	A	G	3: 100,865,260 (GRCm39)	V544A	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Ugt2b38	A	G	5: 87,569,527 (GRCm39)	F267L	probably benign	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het
Vwa8	T	C	14: 79,329,843 (GRCm39)		probably null	Het
Zfp708	A	T	13: 67,219,036 (GRCm39)	Y229*	probably null	Het
Zzef1	T	A	11: 72,775,242 (GRCm39)	M1745K	probably damaging	Het

Other mutations in Cyp2c68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Cyp2c68	APN	19	39,700,939 (GRCm39)	missense	probably damaging	0.98
IGL00826:Cyp2c68	APN	19	39,727,949 (GRCm39)	missense	possibly damaging	0.87
IGL01363:Cyp2c68	APN	19	39,691,871 (GRCm39)	missense	probably benign	0.01
IGL01892:Cyp2c68	APN	19	39,722,788 (GRCm39)	missense	probably benign	0.00
IGL02088:Cyp2c68	APN	19	39,691,965 (GRCm39)	splice site	probably benign
IGL02422:Cyp2c68	APN	19	39,722,896 (GRCm39)	missense	probably damaging	1.00
IGL03047:Cyp2c68	UTSW	19	39,722,904 (GRCm39)	missense	probably benign	0.00
R0523:Cyp2c68	UTSW	19	39,727,873 (GRCm39)	missense	probably benign	0.08
R0729:Cyp2c68	UTSW	19	39,727,994 (GRCm39)	splice site	probably benign
R0975:Cyp2c68	UTSW	19	39,691,802 (GRCm39)	missense	possibly damaging	0.85
R1117:Cyp2c68	UTSW	19	39,700,903 (GRCm39)	missense	probably damaging	1.00
R1355:Cyp2c68	UTSW	19	39,729,400 (GRCm39)	missense	probably damaging	1.00
R1370:Cyp2c68	UTSW	19	39,729,400 (GRCm39)	missense	probably damaging	1.00
R1436:Cyp2c68	UTSW	19	39,729,484 (GRCm39)	start codon destroyed	probably null	1.00
R1564:Cyp2c68	UTSW	19	39,724,024 (GRCm39)	nonsense	probably null
R1730:Cyp2c68	UTSW	19	39,687,719 (GRCm39)	missense	possibly damaging	0.87
R1865:Cyp2c68	UTSW	19	39,722,733 (GRCm39)	missense	probably benign	0.04
R1905:Cyp2c68	UTSW	19	39,724,026 (GRCm39)	missense	probably benign	0.01
R1951:Cyp2c68	UTSW	19	39,700,972 (GRCm39)	missense	probably benign	0.22
R1952:Cyp2c68	UTSW	19	39,700,972 (GRCm39)	missense	probably benign	0.22
R2224:Cyp2c68	UTSW	19	39,724,026 (GRCm39)	missense	probably benign	0.34
R2231:Cyp2c68	UTSW	19	39,687,804 (GRCm39)	missense	probably benign	0.07
R2866:Cyp2c68	UTSW	19	39,677,589 (GRCm39)	missense	probably damaging	1.00
R3104:Cyp2c68	UTSW	19	39,722,757 (GRCm39)	missense	probably benign
R4409:Cyp2c68	UTSW	19	39,727,896 (GRCm39)	missense	probably damaging	0.98
R4575:Cyp2c68	UTSW	19	39,722,805 (GRCm39)	missense	probably benign	0.21
R4620:Cyp2c68	UTSW	19	39,701,006 (GRCm39)	splice site	probably null
R4684:Cyp2c68	UTSW	19	39,687,779 (GRCm39)	missense	possibly damaging	0.48
R5023:Cyp2c68	UTSW	19	39,700,951 (GRCm39)	missense	probably benign	0.01
R5410:Cyp2c68	UTSW	19	39,687,728 (GRCm39)	missense	possibly damaging	0.65
R5513:Cyp2c68	UTSW	19	39,691,850 (GRCm39)	missense	probably damaging	1.00
R5568:Cyp2c68	UTSW	19	39,677,526 (GRCm39)	missense	probably benign	0.19
R5706:Cyp2c68	UTSW	19	39,722,762 (GRCm39)	missense	possibly damaging	0.95
R5890:Cyp2c68	UTSW	19	39,700,936 (GRCm39)	missense	probably damaging	1.00
R5897:Cyp2c68	UTSW	19	39,700,975 (GRCm39)	missense	probably benign	0.01
R6007:Cyp2c68	UTSW	19	39,722,780 (GRCm39)	missense	probably damaging	1.00
R6132:Cyp2c68	UTSW	19	39,691,858 (GRCm39)	missense	possibly damaging	0.90
R6187:Cyp2c68	UTSW	19	39,729,452 (GRCm39)	missense	probably benign	0.32
R6229:Cyp2c68	UTSW	19	39,727,622 (GRCm39)	missense	probably benign	0.02
R6341:Cyp2c68	UTSW	19	39,700,933 (GRCm39)	missense	possibly damaging	0.54
R7209:Cyp2c68	UTSW	19	39,677,649 (GRCm39)	missense	probably damaging	1.00
R7330:Cyp2c68	UTSW	19	39,677,634 (GRCm39)	missense	probably damaging	1.00
R7374:Cyp2c68	UTSW	19	39,727,648 (GRCm39)	critical splice acceptor site	probably null
R7402:Cyp2c68	UTSW	19	39,729,318 (GRCm39)	missense	probably benign	0.02
R7483:Cyp2c68	UTSW	19	39,677,581 (GRCm39)	missense	probably benign	0.02
R9103:Cyp2c68	UTSW	19	39,727,625 (GRCm39)	missense	possibly damaging	0.95
R9204:Cyp2c68	UTSW	19	39,727,571 (GRCm39)	missense	probably damaging	1.00
R9452:Cyp2c68	UTSW	19	39,687,833 (GRCm39)	missense	possibly damaging	0.75
Z1088:Cyp2c68	UTSW	19	39,727,907 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CACTGGGATTAAAGCTGCAGATC -3'
(R):5'- TCTAGCCAATGCCAGACTCC -3'

Sequencing Primer
(F):5'- TTGCAAGTCTACCAGCAATTG -3'
(R):5'- AATGCCAGACTCCTCCTGC -3'

Posted On

2014-10-15