Mutagenetix > Incidental Mutation

Incidental Mutation 'R1355:Cyp2c68'

156309

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c68

Ensembl Gene

ENSMUSG00000074882

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 68

Synonyms

9030012A22Rik

MMRRC Submission

039420-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39688834-39741054 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39740956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 29 (L29P)

Ref Sequence

ENSEMBL: ENSMUSP00000097071 (fasta)

Gene Model

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

AlphaFold

K7N6C2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099472
AA Change: L29P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097071
Gene: ENSMUSG00000074882
AA Change: L29P

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

0.2722

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Ankrd52	A	G	10: 128,388,696	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,283,912	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,151,655	W14*	probably null	Het
B4galnt4	T	C	7: 141,065,395	V259A	probably damaging	Het
Ccdc141	A	T	2: 77,030,601	I944N	probably damaging	Het
Ccdc146	A	T	5: 21,321,242	D224E	probably damaging	Het
Ccne1	A	G	7: 38,106,322	I43T	possibly damaging	Het
Cd226	T	A	18: 89,247,023	S29T	probably benign	Het
Cebpz	G	T	17: 78,935,324	D300E	probably benign	Het
Cryzl1	A	G	16: 91,692,658	V266A	possibly damaging	Het
Dennd3	A	C	15: 73,540,854		probably benign	Het
Dpy19l4	C	T	4: 11,303,371	W183*	probably null	Het
Eml6	T	G	11: 29,833,085	S599R	probably benign	Het
Erc1	A	T	6: 119,743,420	L440*	probably null	Het
Fam71e1	A	G	7: 44,496,691	K2E	possibly damaging	Het
Frem3	A	G	8: 80,690,702	Y2012C	probably damaging	Het
Gm10288	A	T	3: 146,838,993		noncoding transcript	Het
Gm1110	T	A	9: 26,883,761	K476N	probably benign	Het
Gm11937	A	T	11: 99,609,907	S95T	possibly damaging	Het
Hist1h2bl	T	A	13: 21,715,857	Q96L	probably damaging	Het
Hs6st1	T	A	1: 36,103,576	H197Q	probably damaging	Het
Ism1	A	T	2: 139,732,074	I115F	possibly damaging	Het
Itgb8	C	T	12: 119,171,003	G443E	probably benign	Het
Kalrn	T	A	16: 33,975,584	I1274F	possibly damaging	Het
Lrrcc1	G	T	3: 14,548,114	V299L	probably benign	Het
Mettl5	A	T	2: 69,881,420		probably null	Het
Nlrp2	G	T	7: 5,327,491	N635K	possibly damaging	Het
Olfr140	G	A	2: 90,051,613	T237I	probably benign	Het
Olfr1466	T	A	19: 13,342,518	Y253*	probably null	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr198	A	G	16: 59,201,680	S249P	probably damaging	Het
Plxna1	A	G	6: 89,320,766		probably benign	Het
Ppp4r1	A	T	17: 65,840,987	E924D	probably benign	Het
Prdm2	C	T	4: 143,131,963	V1586I	probably benign	Het
Pros1	A	G	16: 62,919,558	K457E	probably benign	Het
Rer1	T	A	4: 155,075,624	M156L	probably benign	Het
Rgs16	A	T	1: 153,743,668	K140M	probably damaging	Het
Rgsl1	A	G	1: 153,807,761	M1T	probably null	Het
Setdb2	T	A	14: 59,417,441	K333N	probably damaging	Het
Sgo2a	A	G	1: 58,017,965	T1103A	possibly damaging	Het
Sik3	C	T	9: 46,195,872		probably benign	Het
Slc44a3	C	A	3: 121,531,671	G47V	probably damaging	Het
Snrpd1	G	A	18: 10,627,818	G103D	probably benign	Het
Soga3	A	T	10: 29,147,322	T222S	probably benign	Het
Sspo	T	A	6: 48,448,626	S60R	probably benign	Het
Susd1	C	T	4: 59,424,114	C37Y	possibly damaging	Het
Tiam1	A	T	16: 89,898,221	I116N	probably benign	Het
Ttc3	A	G	16: 94,418,637	S492G	possibly damaging	Het
Uckl1	G	T	2: 181,573,376	T213K	probably damaging	Het
Usp38	T	C	8: 80,985,033	E791G	possibly damaging	Het
Vps13b	C	T	15: 35,422,454	R187C	probably damaging	Het
Vwa3a	A	G	7: 120,784,111	Y645C	probably damaging	Het
Wasf3	T	C	5: 146,470,208		probably benign	Het

Other mutations in Cyp2c68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Cyp2c68	APN	19	39712495	missense	probably damaging	0.98
IGL00826:Cyp2c68	APN	19	39739505	missense	possibly damaging	0.87
IGL01363:Cyp2c68	APN	19	39703427	missense	probably benign	0.01
IGL01892:Cyp2c68	APN	19	39734344	missense	probably benign	0.00
IGL02088:Cyp2c68	APN	19	39703521	splice site	probably benign
IGL02422:Cyp2c68	APN	19	39734452	missense	probably damaging	1.00
IGL03047:Cyp2c68	UTSW	19	39734460	missense	probably benign	0.00
R0523:Cyp2c68	UTSW	19	39739429	missense	probably benign	0.08
R0729:Cyp2c68	UTSW	19	39739550	splice site	probably benign
R0975:Cyp2c68	UTSW	19	39703358	missense	possibly damaging	0.85
R1117:Cyp2c68	UTSW	19	39712459	missense	probably damaging	1.00
R1370:Cyp2c68	UTSW	19	39740956	missense	probably damaging	1.00
R1436:Cyp2c68	UTSW	19	39741040	start codon destroyed	probably null	1.00
R1564:Cyp2c68	UTSW	19	39735580	nonsense	probably null
R1730:Cyp2c68	UTSW	19	39699275	missense	possibly damaging	0.87
R1865:Cyp2c68	UTSW	19	39734289	missense	probably benign	0.04
R1905:Cyp2c68	UTSW	19	39735582	missense	probably benign	0.01
R1951:Cyp2c68	UTSW	19	39712528	missense	probably benign	0.22
R1952:Cyp2c68	UTSW	19	39712528	missense	probably benign	0.22
R2224:Cyp2c68	UTSW	19	39735582	missense	probably benign	0.34
R2230:Cyp2c68	UTSW	19	39699360	missense	probably benign	0.07
R2231:Cyp2c68	UTSW	19	39699360	missense	probably benign	0.07
R2866:Cyp2c68	UTSW	19	39689145	missense	probably damaging	1.00
R3104:Cyp2c68	UTSW	19	39734313	missense	probably benign
R4409:Cyp2c68	UTSW	19	39739452	missense	probably damaging	0.98
R4575:Cyp2c68	UTSW	19	39734361	missense	probably benign	0.21
R4620:Cyp2c68	UTSW	19	39712562	splice site	probably null
R4684:Cyp2c68	UTSW	19	39699335	missense	possibly damaging	0.48
R5023:Cyp2c68	UTSW	19	39712507	missense	probably benign	0.01
R5410:Cyp2c68	UTSW	19	39699284	missense	possibly damaging	0.65
R5513:Cyp2c68	UTSW	19	39703406	missense	probably damaging	1.00
R5568:Cyp2c68	UTSW	19	39689082	missense	probably benign	0.19
R5706:Cyp2c68	UTSW	19	39734318	missense	possibly damaging	0.95
R5890:Cyp2c68	UTSW	19	39712492	missense	probably damaging	1.00
R5897:Cyp2c68	UTSW	19	39712531	missense	probably benign	0.01
R6007:Cyp2c68	UTSW	19	39734336	missense	probably damaging	1.00
R6132:Cyp2c68	UTSW	19	39703414	missense	possibly damaging	0.90
R6187:Cyp2c68	UTSW	19	39741008	missense	probably benign	0.32
R6229:Cyp2c68	UTSW	19	39739178	missense	probably benign	0.02
R6341:Cyp2c68	UTSW	19	39712489	missense	possibly damaging	0.54
R7209:Cyp2c68	UTSW	19	39689205	missense	probably damaging	1.00
R7330:Cyp2c68	UTSW	19	39689190	missense	probably damaging	1.00
R7374:Cyp2c68	UTSW	19	39739204	critical splice acceptor site	probably null
R7402:Cyp2c68	UTSW	19	39740874	missense	probably benign	0.02
R7483:Cyp2c68	UTSW	19	39689137	missense	probably benign	0.02
R9103:Cyp2c68	UTSW	19	39739181	missense	possibly damaging	0.95
R9204:Cyp2c68	UTSW	19	39739127	missense	probably damaging	1.00
R9452:Cyp2c68	UTSW	19	39699389	missense	possibly damaging	0.75
Z1088:Cyp2c68	UTSW	19	39739463	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGTTGATGGGGAAAATACGACAGATGC -3'
(R):5'- ACATGTCTTACAGGCACGCTACAAA -3'

Sequencing Primer
(F):5'- GGTACTTCAATCTGAAACTTAGAGC -3'
(R):5'- GGCACGCTACAAAAATGACAATG -3'

Posted On

2014-02-11