Mutagenetix > Incidental Mutation

Incidental Mutation 'R0038:Cyp2b10'

32813

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b10

Ensembl Gene

ENSMUSG00000030483

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 10

Synonyms

p16, Cyp2b, Cyp2b20, phenobarbitol inducible, type b

MMRRC Submission

038332-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R0038 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

25597083-25626049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25614287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 254 (A254T)

Ref Sequence

ENSEMBL: ENSMUSP00000072264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005477] [ENSMUST00000072438]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005477
AA Change: A254T

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000005477
Gene: ENSMUSG00000030483
AA Change: A254T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:p450	31	497	4.1e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072438
AA Change: A254T

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072264
Gene: ENSMUSG00000030483
AA Change: A254T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:p450	31	488	2e-152	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144140

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,863,823 (GRCm39)		probably benign	Het
Ankrd28	A	T	14: 31,429,992 (GRCm39)	M892K	probably damaging	Het
Arhgef25	T	C	10: 127,022,734 (GRCm39)		probably benign	Het
Arl9	G	A	5: 77,154,322 (GRCm39)	E17K	probably benign	Het
Bbs9	G	A	9: 22,415,390 (GRCm39)	V105I	probably benign	Het
Celsr1	A	T	15: 85,813,620 (GRCm39)	N1997K	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cldn8	A	G	16: 88,359,922 (GRCm39)	M1T	probably null	Het
Clec11a	A	G	7: 43,955,906 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col19a1	A	T	1: 24,598,825 (GRCm39)	L56Q	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Ddx39a	T	C	8: 84,449,127 (GRCm39)	L305P	probably damaging	Het
Depdc5	A	G	5: 33,026,197 (GRCm39)	E60G	probably benign	Het
Eif2ak2	T	A	17: 79,171,384 (GRCm39)	M340L	probably benign	Het
Etl4	A	T	2: 20,748,385 (GRCm39)	H39L	probably damaging	Het
Fat3	T	C	9: 15,826,306 (GRCm39)	T4549A	probably damaging	Het
Fbxw28	A	T	9: 109,167,608 (GRCm39)	W50R	probably damaging	Het
Ggt7	T	C	2: 155,344,701 (GRCm39)	D214G	probably benign	Het
Gramd1b	G	A	9: 40,228,822 (GRCm39)	T252M	probably damaging	Het
Grin1	T	C	2: 25,187,471 (GRCm39)	N613S	probably null	Het
Hcrtr2	A	T	9: 76,166,963 (GRCm39)	S125T	probably benign	Het
Hr	T	C	14: 70,805,525 (GRCm39)	L1091P	probably damaging	Het
Htr2a	T	G	14: 74,943,687 (GRCm39)	S422R	probably benign	Het
Ighmbp2	A	G	19: 3,312,097 (GRCm39)	S886P	probably damaging	Het
Iqcg	C	A	16: 32,866,012 (GRCm39)	L110F	probably benign	Het
Kirrel3	T	A	9: 34,823,066 (GRCm39)		probably null	Het
Kremen1	A	C	11: 5,157,703 (GRCm39)		probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Lin52	C	G	12: 84,576,499 (GRCm39)	L111V	probably damaging	Het
Myh15	T	C	16: 48,891,504 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,283,377 (GRCm39)	F437L	probably damaging	Het
Nlrp1b	A	G	11: 71,062,997 (GRCm39)	S685P	possibly damaging	Het
Oog4	T	C	4: 143,165,514 (GRCm39)	D211G	probably benign	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
Pdzd8	A	G	19: 59,288,028 (GRCm39)	I1124T	possibly damaging	Het
Pgm3	A	T	9: 86,446,726 (GRCm39)		probably benign	Het
Pnpla5	A	G	15: 84,006,714 (GRCm39)	Y90H	probably damaging	Het
Polr1b	C	T	2: 128,957,588 (GRCm39)	R548*	probably null	Het
Ptprg	T	A	14: 12,213,710 (GRCm38)	M1026K	probably damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rapgef2	T	C	3: 78,976,703 (GRCm39)	I1368V	probably benign	Het
Rnf168	T	C	16: 32,117,813 (GRCm39)	V458A	probably benign	Het
Rnf32	T	C	5: 29,410,652 (GRCm39)		probably benign	Het
Sclt1	T	C	3: 41,583,943 (GRCm39)		probably benign	Het
Serpina12	A	G	12: 104,004,216 (GRCm39)	F139L	probably damaging	Het
Sos2	T	G	12: 69,643,467 (GRCm39)	Q971P	probably damaging	Het
Stag3	T	A	5: 138,299,298 (GRCm39)		probably null	Het
Stard5	T	C	7: 83,285,951 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,526,313 (GRCm39)	C857S	probably benign	Het
Suclg1	A	G	6: 73,237,486 (GRCm39)	E77G	probably benign	Het
Trpm7	A	G	2: 126,637,388 (GRCm39)	S204P	probably damaging	Het
Ush2a	G	T	1: 188,358,809 (GRCm39)	G2112C	probably benign	Het
Vmn2r15	T	A	5: 109,441,010 (GRCm39)	T283S	possibly damaging	Het
Wdr6	A	T	9: 108,450,168 (GRCm39)	V1120D	probably damaging	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	Het

Other mutations in Cyp2b10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02270:Cyp2b10	APN	7	25,613,362 (GRCm39)	missense	probably damaging	0.99
IGL02341:Cyp2b10	APN	7	25,610,667 (GRCm39)	missense	probably benign	0.33
IGL02557:Cyp2b10	APN	7	25,614,306 (GRCm39)	missense	probably benign
R0393:Cyp2b10	UTSW	7	25,614,359 (GRCm39)	splice site	probably benign
R0569:Cyp2b10	UTSW	7	25,597,160 (GRCm39)	missense	probably damaging	1.00
R1035:Cyp2b10	UTSW	7	25,616,473 (GRCm39)	missense	probably benign	0.34
R1262:Cyp2b10	UTSW	7	25,614,836 (GRCm39)	missense	probably benign	0.16
R1282:Cyp2b10	UTSW	7	25,625,505 (GRCm39)	missense	probably damaging	1.00
R1452:Cyp2b10	UTSW	7	25,624,813 (GRCm39)	intron	probably benign
R2163:Cyp2b10	UTSW	7	25,624,810 (GRCm39)	intron	probably benign
R4520:Cyp2b10	UTSW	7	25,610,982 (GRCm39)	missense	probably benign	0.05
R4831:Cyp2b10	UTSW	7	25,614,921 (GRCm39)	nonsense	probably null
R5201:Cyp2b10	UTSW	7	25,616,419 (GRCm39)	missense	probably damaging	1.00
R5330:Cyp2b10	UTSW	7	25,613,414 (GRCm39)	nonsense	probably null
R5586:Cyp2b10	UTSW	7	25,616,437 (GRCm39)	missense	probably damaging	1.00
R5964:Cyp2b10	UTSW	7	25,625,648 (GRCm39)	missense	probably benign	0.28
R6043:Cyp2b10	UTSW	7	25,616,764 (GRCm39)	missense	probably damaging	0.99
R6470:Cyp2b10	UTSW	7	25,611,081 (GRCm39)	missense	possibly damaging	0.57
R6991:Cyp2b10	UTSW	7	25,616,780 (GRCm39)	missense	probably benign	0.05
R7567:Cyp2b10	UTSW	7	25,614,204 (GRCm39)	missense	probably damaging	1.00
R7847:Cyp2b10	UTSW	7	25,597,185 (GRCm39)	missense	possibly damaging	0.52
R8131:Cyp2b10	UTSW	7	25,614,242 (GRCm39)	nonsense	probably null
R8486:Cyp2b10	UTSW	7	25,614,306 (GRCm39)	missense	probably benign
R8988:Cyp2b10	UTSW	7	25,625,670 (GRCm39)	missense	probably damaging	1.00
R8992:Cyp2b10	UTSW	7	25,624,815 (GRCm39)	missense	unknown
R9286:Cyp2b10	UTSW	7	25,616,391 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGTGCTGATAGCTCCAGGTGAC -3'
(R):5'- TCTGGACATTACTCAGCCCCAGAC -3'

Sequencing Primer
(F):5'- CAGGTGACCTCCTGGGC -3'
(R):5'- GCCCCAGACAGTATCCCTTG -3'

Posted On

2013-05-09