Mutagenetix > Incidental Mutations

Incidental Mutation 'R7567:Cyp2b10'

585511

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b10

Ensembl Gene

ENSMUSG00000030483

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 10

Synonyms

phenobarbitol inducible, type b, p16, Cyp2b20, Cyp2b

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R7567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25897620-25926624 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25914779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 226 (Y226C)

Ref Sequence

ENSEMBL: ENSMUSP00000005477 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000005477
AA Change: Y226C

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

SMART Domains

Protein: ENSMUSP00000005477
Gene: ENSMUSG00000030483
AA Change: Y226C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000072438
AA Change: Y226C

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

SMART Domains

Protein: ENSMUSP00000072264
Gene: ENSMUSG00000030483
AA Change: Y226C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,008,006	Q464H	probably damaging	Het
1810041L15Rik	G	A	15: 84,406,713	T131M	probably benign	Het
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Abcc5	A	T	16: 20,405,510	S108T	probably damaging	Het
Acss3	T	C	10: 107,123,313	S91G	probably benign	Het
Adgrf4	T	A	17: 42,667,442	I337L	probably benign	Het
Adgrv1	A	G	13: 81,433,529	S4799P	probably benign	Het
Adgrv1	T	C	13: 81,579,477	D348G	probably damaging	Het
Afdn	A	G	17: 13,888,808	D1546G	probably benign	Het
Agr2	A	T	12: 35,995,947	R64S	probably benign	Het
Ankrd13a	T	A	5: 114,789,484		probably null	Het
Apon	T	A	10: 128,255,053	M200K	possibly damaging	Het
Art4	T	C	6: 136,854,430	S238G	possibly damaging	Het
Atp2a2	A	T	5: 122,491,784	V74D	probably benign	Het
Atrnl1	T	C	19: 57,699,523	S807P	probably damaging	Het
B020004J07Rik	T	C	4: 101,837,134	N184S	probably benign	Het
C2cd3	T	C	7: 100,430,815	V936A		Het
Car15	T	A	16: 17,836,788	H122L	probably damaging	Het
Cav3	A	T	6: 112,472,467	R149W	probably benign	Het
Ccdc8	A	T	7: 16,994,762	I59F	probably damaging	Het
Ccng2	G	A	5: 93,270,872	V119I	probably benign	Het
Ceacam2	A	G	7: 25,527,908	I178T	probably benign	Het
Ces2a	A	G	8: 104,741,298	D520G	probably benign	Het
Cln8	T	C	8: 14,895,057	S124P	probably benign	Het
Coro2a	T	A	4: 46,546,674	D227V	probably damaging	Het
Cpa4	A	C	6: 30,573,890	R32S	probably benign	Het
Creb3l4	G	T	3: 90,242,422	D45E	probably benign	Het
Crybb2	C	T	5: 113,065,893		probably null	Het
Cul7	T	A	17: 46,654,595	H566Q	probably benign	Het
Dennd2a	A	T	6: 39,522,809	V274D	probably benign	Het
Dmbt1	G	A	7: 131,061,363		probably null	Het
Drc7	T	C	8: 95,068,056	I363T	probably benign	Het
Drd3	G	A	16: 43,822,684	V396I	probably benign	Het
Eif2ak4	A	G	2: 118,450,314	N1054S	probably benign	Het
Epc1	A	C	18: 6,450,084	V458G	probably damaging	Het
Exoc1	T	A	5: 76,537,715	D91E	probably damaging	Het
Fat4	T	A	3: 38,889,336	F793I	probably damaging	Het
Fhod1	T	C	8: 105,347,837	E6G	unknown	Het
Galnt16	G	A	12: 80,581,310		probably null	Het
Ganc	A	T	2: 120,456,101	T804S	probably benign	Het
Gpam	A	T	19: 55,081,630	V398E	possibly damaging	Het
Gpr68	A	G	12: 100,878,364	V307A	probably benign	Het
Grm7	C	T	6: 111,358,761	S711L	probably damaging	Het
Hemgn	T	A	4: 46,397,034	R67S	probably damaging	Het
Hmg20b	T	C	10: 81,346,659	D281G	possibly damaging	Het
Ifi211	A	C	1: 173,901,835	F277V	probably damaging	Het
Ighmbp2	T	C	19: 3,272,981	I322V	probably benign	Het
Iqce	A	T	5: 140,686,075	L265H	probably damaging	Het
Itgal	G	T	7: 127,299,788	A101S	probably benign	Het
Kif5a	C	T	10: 127,237,379	M647I	probably benign	Het
Kirrel	G	T	3: 87,095,681	T135K	probably damaging	Het
Klf16	T	C	10: 80,576,788	Y138C	probably benign	Het
Klhl7	A	G	5: 24,126,846	T49A	probably benign	Het
Mr1	T	C	1: 155,146,728		probably benign	Het
Mrc1	A	T	2: 14,325,293	I1238F	probably damaging	Het
Ncoa5	C	T	2: 165,004,251	M225I	possibly damaging	Het
Nf1	A	T	11: 79,547,226	T121S	probably damaging	Het
Ngfr	T	C	11: 95,574,321	T234A	probably benign	Het
Ninj1	T	G	13: 49,193,880	F74V	probably damaging	Het
Npffr1	T	C	10: 61,626,309	V408A	probably benign	Het
Nsd2	T	C	5: 33,846,226	V240A	probably damaging	Het
Olfr103	T	A	17: 37,337,171	E20D	probably benign	Het
Olfr1351	T	A	10: 79,017,545	F74L	probably benign	Het
Olfr30	A	G	11: 58,455,166	M261T	probably damaging	Het
Olfr907	G	A	9: 38,499,073	V135I	probably benign	Het
Olfr954	T	C	9: 39,461,877	S146P	possibly damaging	Het
Ovol1	T	C	19: 5,551,586	H136R	probably damaging	Het
Prag1	T	A	8: 36,102,606	D114E	possibly damaging	Het
Prss57	T	A	10: 79,787,400	H71L	probably benign	Het
Ptgs2	T	C	1: 150,102,697	F187L	probably damaging	Het
Ptprz1	A	T	6: 22,959,780	N92I	probably damaging	Het
Rab23	A	T	1: 33,734,731	T91S	possibly damaging	Het
Rag1	A	G	2: 101,643,661	S379P	probably damaging	Het
Ribc2	G	T	15: 85,143,247	D310Y	probably damaging	Het
Rims1	A	G	1: 22,468,210	Y620H	probably damaging	Het
Rnf219	T	C	14: 104,479,378	T520A	probably damaging	Het
Rock1	A	C	18: 10,090,820	V938G	probably benign	Het
Rsph10b	A	G	5: 143,949,426	N314S	possibly damaging	Het
Sertad1	A	G	7: 27,489,902	D216G	possibly damaging	Het
Slco6d1	T	A	1: 98,497,527	V600D	probably damaging	Het
Snapc2	T	C	8: 4,255,314	I232T	probably damaging	Het
Snx13	A	G	12: 35,086,914	S125G	probably damaging	Het
Srcin1	C	T	11: 97,534,725	R502H	probably damaging	Het
Tesmin	A	G	19: 3,392,218	E167G	possibly damaging	Het
Tex10	T	C	4: 48,468,787	I129M	possibly damaging	Het
Tmem235	A	G	11: 117,864,141	S140G	probably benign	Het
Trim60	T	A	8: 65,001,525	D24V	probably damaging	Het
Ttc39c	A	G	18: 12,689,879	E148G	probably benign	Het
Vmn2r70	G	T	7: 85,565,035	T303K	probably benign	Het
Wdr48	A	T	9: 119,916,828	T426S	possibly damaging	Het
Wdr60	A	T	12: 116,254,510		probably null	Het
Xirp2	A	T	2: 67,515,982	T2856S	probably benign	Het
Zswim8	A	G	14: 20,719,933	N1356S	probably damaging	Het

Other mutations in Cyp2b10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02270:Cyp2b10	APN	7	25913937	missense	probably damaging	0.99
IGL02341:Cyp2b10	APN	7	25911242	missense	probably benign	0.33
IGL02557:Cyp2b10	APN	7	25914881	missense	probably benign
R0038:Cyp2b10	UTSW	7	25914862	missense	probably benign	0.21
R0393:Cyp2b10	UTSW	7	25914934	splice site	probably benign
R0569:Cyp2b10	UTSW	7	25897735	missense	probably damaging	1.00
R1035:Cyp2b10	UTSW	7	25917048	missense	probably benign	0.34
R1262:Cyp2b10	UTSW	7	25915411	missense	probably benign	0.16
R1282:Cyp2b10	UTSW	7	25926080	missense	probably damaging	1.00
R1452:Cyp2b10	UTSW	7	25925388	intron	probably benign
R2163:Cyp2b10	UTSW	7	25925385	intron	probably benign
R4520:Cyp2b10	UTSW	7	25911557	missense	probably benign	0.05
R4831:Cyp2b10	UTSW	7	25915496	nonsense	probably null
R5201:Cyp2b10	UTSW	7	25916994	missense	probably damaging	1.00
R5330:Cyp2b10	UTSW	7	25913989	nonsense	probably null
R5586:Cyp2b10	UTSW	7	25917012	missense	probably damaging	1.00
R5964:Cyp2b10	UTSW	7	25926223	missense	probably benign	0.28
R6043:Cyp2b10	UTSW	7	25917339	missense	probably damaging	0.99
R6470:Cyp2b10	UTSW	7	25911656	missense	possibly damaging	0.57
R6991:Cyp2b10	UTSW	7	25917355	missense	probably benign	0.05
R7847:Cyp2b10	UTSW	7	25897760	missense	possibly damaging	0.52
R8131:Cyp2b10	UTSW	7	25914817	nonsense	probably null
R8486:Cyp2b10	UTSW	7	25914881	missense	probably benign
R8988:Cyp2b10	UTSW	7	25926245	missense	probably damaging	1.00
R8992:Cyp2b10	UTSW	7	25925390	missense	unknown
R9286:Cyp2b10	UTSW	7	25916966	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCTTGAGGAAGATTGTCTGA -3'
(R):5'- CCCTCTCTCATCCATGCAGG -3'

Sequencing Primer
(F):5'- TGTATGTGCATCAGAGCGAAAGTG -3'
(R):5'- TGCAGGACTAACTAACCTTCTCCATG -3'

Posted On

2019-10-17