Mutagenetix > Incidental Mutation

Incidental Mutation 'R7389:Cyp2c50'

573334

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c50

Ensembl Gene

ENSMUSG00000054827

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 50

Synonyms

MMRRC Submission

045471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40078132-40102394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40079107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 150 (R150L)

Ref Sequence

ENSEMBL: ENSMUSP00000079065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068094] [ENSMUST00000080171]

AlphaFold

Q91X77

Predicted Effect

probably benign
Transcript: ENSMUST00000068094
AA Change: R150L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000068039
Gene: ENSMUSG00000054827
AA Change: R150L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	225	3.7e-54	PFAM
Pfam:p450	213	428	6.8e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080171
AA Change: R150L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000079065
Gene: ENSMUSG00000054827
AA Change: R150L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	1.2e-162	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	A	14: 25,873,312 (GRCm39)	P182Q	probably damaging	Het
Asns	C	A	6: 7,689,291 (GRCm39)	L70F	probably damaging	Het
Cntrl	A	T	2: 35,017,529 (GRCm39)	K445N	probably benign	Het
Dqx1	G	T	6: 83,041,775 (GRCm39)	S539I	probably null	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epha3	T	C	16: 63,593,347 (GRCm39)	E247G	probably damaging	Het
Etl4	C	T	2: 20,789,904 (GRCm39)	Q801*	probably null	Het
Fabp2	G	T	3: 122,689,014 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,819,140 (GRCm39)	V4958I	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Hdgfl2	T	G	17: 56,406,389 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,894,785 (GRCm39)	D1927G	probably benign	Het
Ino80	A	C	2: 119,273,010 (GRCm39)	S489A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrriq3	A	G	3: 154,893,741 (GRCm39)	T481A	probably benign	Het
Map2k3	A	T	11: 60,822,862 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,717,638 (GRCm39)	T617A	probably benign	Het
Mybpc2	T	G	7: 44,155,028 (GRCm39)	T960P	probably benign	Het
Ncoa2	T	C	1: 13,257,049 (GRCm39)	N150S	possibly damaging	Het
Nup153	A	T	13: 46,854,463 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,927,226 (GRCm39)	L5498P	probably benign	Het
Or5b21	G	T	19: 12,839,981 (GRCm39)	V281L	probably benign	Het
Or5v1b	A	G	17: 37,841,548 (GRCm39)	R227G	possibly damaging	Het
Paqr8	C	A	1: 21,005,389 (GRCm39)	P181Q	probably damaging	Het
Pcdhgb4	T	C	18: 37,855,416 (GRCm39)	Y604H	probably damaging	Het
Pja2	T	A	17: 64,604,722 (GRCm39)	E487V	probably damaging	Het
Pnpla6	C	T	8: 3,593,981 (GRCm39)	R1331*	probably null	Het
Ppl	T	A	16: 4,924,577 (GRCm39)		probably null	Het
Rhbdl3	T	A	11: 80,237,665 (GRCm39)	M299K	possibly damaging	Het
Scart1	A	G	7: 139,808,704 (GRCm39)	K872E	possibly damaging	Het
Slc26a9	A	G	1: 131,696,986 (GRCm39)	*791W	probably null	Het
Slc7a2	A	G	8: 41,365,552 (GRCm39)	Y461C	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Ssh1	A	T	5: 114,096,892 (GRCm39)	I205N	probably benign	Het
Stab1	C	T	14: 30,869,196 (GRCm39)	V1511I	probably benign	Het
Tex19.1	T	C	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tinf2	G	T	14: 55,918,167 (GRCm39)		probably null	Het
Tmeff1	A	G	4: 48,617,097 (GRCm39)		probably null	Het
Tnip2	G	T	5: 34,671,145 (GRCm39)	Q33K	probably benign	Het
Traf3	C	A	12: 111,204,187 (GRCm39)	L59M	probably damaging	Het
Trav14d-3-dv8	T	C	14: 53,316,328 (GRCm39)	Y63H	possibly damaging	Het
Trim11	C	T	11: 58,881,481 (GRCm39)	S458L	probably damaging	Het
Tspan18	A	T	2: 93,040,272 (GRCm39)	V161E	probably benign	Het
Usf3	T	A	16: 44,038,304 (GRCm39)	V928E	probably benign	Het
Usp29	G	A	7: 6,966,457 (GRCm39)	V767I	possibly damaging	Het
Usp34	T	G	11: 23,295,200 (GRCm39)	F287L		Het
Vmn1r213	T	C	13: 23,196,556 (GRCm39)	C380R	probably benign	Het
Zfyve9	A	G	4: 108,550,515 (GRCm39)		probably null	Het

Other mutations in Cyp2c50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Cyp2c50	APN	19	40,080,728 (GRCm39)	missense	probably benign	0.12
IGL01463:Cyp2c50	APN	19	40,079,422 (GRCm39)	missense	probably damaging	1.00
IGL01669:Cyp2c50	APN	19	40,086,495 (GRCm39)	missense	probably damaging	1.00
IGL02008:Cyp2c50	APN	19	40,079,543 (GRCm39)	nonsense	probably null
IGL02331:Cyp2c50	APN	19	40,079,387 (GRCm39)	critical splice acceptor site	probably null
IGL02830:Cyp2c50	APN	19	40,086,500 (GRCm39)	missense	probably benign	0.00
R0115:Cyp2c50	UTSW	19	40,080,837 (GRCm39)	splice site	probably benign
R1666:Cyp2c50	UTSW	19	40,079,499 (GRCm39)	missense	probably benign
R1668:Cyp2c50	UTSW	19	40,079,499 (GRCm39)	missense	probably benign
R1679:Cyp2c50	UTSW	19	40,099,859 (GRCm39)	missense	possibly damaging	0.93
R2425:Cyp2c50	UTSW	19	40,078,292 (GRCm39)	missense	probably benign	0.20
R2509:Cyp2c50	UTSW	19	40,079,013 (GRCm39)	missense	probably benign
R2570:Cyp2c50	UTSW	19	40,078,764 (GRCm39)	missense	probably benign	0.01
R3040:Cyp2c50	UTSW	19	40,086,570 (GRCm39)	missense	probably benign	0.02
R3983:Cyp2c50	UTSW	19	40,101,962 (GRCm39)	missense	possibly damaging	0.64
R4425:Cyp2c50	UTSW	19	40,079,136 (GRCm39)	missense	possibly damaging	0.94
R4484:Cyp2c50	UTSW	19	40,079,083 (GRCm39)	missense	probably damaging	1.00
R4520:Cyp2c50	UTSW	19	40,079,133 (GRCm39)	missense	probably benign	0.02
R4820:Cyp2c50	UTSW	19	40,102,024 (GRCm39)	missense	probably damaging	1.00
R4978:Cyp2c50	UTSW	19	40,086,501 (GRCm39)	missense	probably damaging	1.00
R5335:Cyp2c50	UTSW	19	40,079,060 (GRCm39)	missense	probably benign	0.00
R5807:Cyp2c50	UTSW	19	40,101,944 (GRCm39)	missense	probably damaging	1.00
R5955:Cyp2c50	UTSW	19	40,079,387 (GRCm39)	critical splice acceptor site	probably null
R6553:Cyp2c50	UTSW	19	40,079,046 (GRCm39)	missense	probably benign	0.41
R6560:Cyp2c50	UTSW	19	40,085,299 (GRCm39)	missense	probably benign	0.03
R7241:Cyp2c50	UTSW	19	40,079,012 (GRCm39)	missense	probably benign
R7511:Cyp2c50	UTSW	19	40,080,634 (GRCm39)	splice site	probably null
R9327:Cyp2c50	UTSW	19	40,079,010 (GRCm39)	missense	probably benign	0.01
R9643:Cyp2c50	UTSW	19	40,086,512 (GRCm39)	missense	probably damaging	1.00
RF008:Cyp2c50	UTSW	19	40,078,268 (GRCm39)	missense	probably damaging	0.98
Z1088:Cyp2c50	UTSW	19	40,086,399 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- TTCTATGGCAGCCACCAGAC -3'
(R):5'- GCCCTTGTTATCATGTTAAGACAC -3'

Sequencing Primer
(F):5'- AGACATCCTCTACTTCTACTCCAGG -3'
(R):5'- TTATGCTACATTTATGCTAAGGGC -3'

Posted On

2019-09-13