Mutagenetix > Incidental Mutation

Incidental Mutation 'R6616:Cyp2b13'

524055

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b13

Ensembl Gene

ENSMUSG00000040583

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 13

Synonyms

phenobarbital inducible, type c

MMRRC Submission

044739-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6616 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25760922-25795622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25785306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 225 (K225R)

Ref Sequence

ENSEMBL: ENSMUSP00000005669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005669]

AlphaFold

A6H6J2

Predicted Effect

probably benign
Transcript: ENSMUST00000005669
AA Change: K225R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000005669
Gene: ENSMUSG00000040583
AA Change: K225R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:p450	31	488	9.8e-150	PFAM

Meta Mutation Damage Score

0.0874

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,603,509 (GRCm39)	H567L	probably damaging	Het
Adck1	T	A	12: 88,427,958 (GRCm39)	M525K	unknown	Het
Alpi	T	C	1: 87,028,836 (GRCm39)	I74V	possibly damaging	Het
Ccdc168	C	A	1: 44,100,634 (GRCm39)	V155L	possibly damaging	Het
Creb5	A	C	6: 53,662,295 (GRCm39)	Q197H	possibly damaging	Het
Dock1	G	A	7: 134,710,221 (GRCm39)	E1143K	possibly damaging	Het
Eef2kmt	T	A	16: 5,065,346 (GRCm39)	D287V	probably damaging	Het
Eif2ak4	T	A	2: 118,285,326 (GRCm39)	Y1046*	probably null	Het
Fbxw10	T	A	11: 62,743,850 (GRCm39)	M252K	probably benign	Het
Fnip2	A	C	3: 79,388,189 (GRCm39)	H847Q	probably benign	Het
Frmd3	A	T	4: 74,105,725 (GRCm39)	D457V	probably damaging	Het
Gm13941	T	G	2: 110,931,520 (GRCm39)	E37D	unknown	Het
Grin1	T	A	2: 25,182,122 (GRCm39)	I870F	possibly damaging	Het
Grin2b	A	C	6: 135,709,549 (GRCm39)	D1332E	probably benign	Het
Gtpbp4	G	A	13: 9,039,141 (GRCm39)	T201I	possibly damaging	Het
Heatr4	A	G	12: 84,026,904 (GRCm39)	C118R	probably benign	Het
Hltf	T	A	3: 20,163,651 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,599,008 (GRCm39)		probably null	Het
Hpd	A	T	5: 123,310,123 (GRCm39)	L367Q	probably damaging	Het
Htr1b	A	G	9: 81,514,487 (GRCm39)	I40T	probably benign	Het
Il16	A	G	7: 83,295,684 (GRCm39)	S464P	probably benign	Het
Lrp1b	T	A	2: 40,589,643 (GRCm39)	D75V	unknown	Het
Map3k4	A	T	17: 12,490,231 (GRCm39)	L400Q	probably damaging	Het
Mcts2	T	A	2: 152,529,582 (GRCm39)	I131N	possibly damaging	Het
Mroh2b	A	C	15: 4,982,764 (GRCm39)	I1528L	probably benign	Het
Muc4	A	C	16: 32,602,378 (GRCm39)	D3467A	possibly damaging	Het
Mypn	A	T	10: 63,005,091 (GRCm39)	C339S	probably damaging	Het
Ncoa5	A	T	2: 164,852,483 (GRCm39)	Y130*	probably null	Het
Or11g27	T	A	14: 50,771,364 (GRCm39)	I165N	probably benign	Het
Or2y11	T	A	11: 49,442,868 (GRCm39)	V98E	probably damaging	Het
Pcdha4	A	G	18: 37,086,953 (GRCm39)	T379A	probably benign	Het
Pkp4	C	G	2: 59,180,896 (GRCm39)	Y720*	probably null	Het
Prl5a1	C	T	13: 28,333,839 (GRCm39)	T114I	probably benign	Het
Rnd3	A	G	2: 51,024,169 (GRCm39)	S137P	probably damaging	Het
Rtel1	G	A	2: 180,994,579 (GRCm39)	E680K	possibly damaging	Het
Sbsn	T	A	7: 30,452,704 (GRCm39)	V573D	possibly damaging	Het
Scaf8	A	T	17: 3,218,330 (GRCm39)	L233F	unknown	Het
Sec23a	A	T	12: 59,043,941 (GRCm39)	I241K	possibly damaging	Het
Secisbp2l	A	T	2: 125,610,146 (GRCm39)	S258T	probably damaging	Het
Skint4	A	G	4: 111,975,427 (GRCm39)	H121R	possibly damaging	Het
Sptbn1	T	A	11: 30,074,030 (GRCm39)	E1346D	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stpg4	A	G	17: 87,730,124 (GRCm39)	Y74H	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmc4	A	G	7: 3,674,057 (GRCm39)	V374A	possibly damaging	Het
Unc45b	G	A	11: 82,802,645 (GRCm39)	R47Q	probably damaging	Het
Xirp1	A	G	9: 119,848,080 (GRCm39)	S268P	probably damaging	Het
Zfp990	A	T	4: 145,263,715 (GRCm39)	I238L	probably benign	Het
Zswim5	A	G	4: 116,843,938 (GRCm39)	D992G	possibly damaging	Het

Other mutations in Cyp2b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Cyp2b13	APN	7	25,781,152 (GRCm39)	missense	probably benign	0.26
IGL01134:Cyp2b13	APN	7	25,781,125 (GRCm39)	missense	probably damaging	1.00
IGL02386:Cyp2b13	APN	7	25,785,438 (GRCm39)	missense	probably damaging	1.00
IGL02531:Cyp2b13	APN	7	25,761,030 (GRCm39)	missense	possibly damaging	0.55
IGL02960:Cyp2b13	APN	7	25,761,101 (GRCm39)	missense	probably benign	0.33
R0018:Cyp2b13	UTSW	7	25,785,375 (GRCm39)	missense	probably benign	0.30
R0018:Cyp2b13	UTSW	7	25,785,375 (GRCm39)	missense	probably benign	0.30
R0103:Cyp2b13	UTSW	7	25,788,135 (GRCm39)	missense	probably damaging	1.00
R0121:Cyp2b13	UTSW	7	25,786,010 (GRCm39)	missense	probably benign
R0392:Cyp2b13	UTSW	7	25,785,308 (GRCm39)	missense	probably benign	0.01
R0540:Cyp2b13	UTSW	7	25,781,136 (GRCm39)	missense	probably benign	0.07
R1887:Cyp2b13	UTSW	7	25,788,075 (GRCm39)	missense	probably damaging	1.00
R2416:Cyp2b13	UTSW	7	25,795,246 (GRCm39)	makesense	probably null
R2879:Cyp2b13	UTSW	7	25,785,456 (GRCm39)	critical splice donor site	probably null
R4654:Cyp2b13	UTSW	7	25,761,072 (GRCm39)	missense	probably damaging	1.00
R4735:Cyp2b13	UTSW	7	25,787,720 (GRCm39)	missense	probably benign
R4969:Cyp2b13	UTSW	7	25,780,413 (GRCm39)	missense	probably damaging	0.98
R5174:Cyp2b13	UTSW	7	25,788,118 (GRCm39)	missense	possibly damaging	0.68
R6243:Cyp2b13	UTSW	7	25,761,044 (GRCm39)	missense	probably damaging	1.00
R6647:Cyp2b13	UTSW	7	25,785,324 (GRCm39)	missense	possibly damaging	0.52
R6766:Cyp2b13	UTSW	7	25,781,236 (GRCm39)	critical splice donor site	probably null
R6844:Cyp2b13	UTSW	7	25,781,122 (GRCm39)	missense	probably damaging	1.00
R7431:Cyp2b13	UTSW	7	25,760,976 (GRCm39)	missense	probably damaging	0.96
R7593:Cyp2b13	UTSW	7	25,780,416 (GRCm39)	missense	possibly damaging	0.64
R7719:Cyp2b13	UTSW	7	25,795,095 (GRCm39)	missense	probably damaging	1.00
R7857:Cyp2b13	UTSW	7	25,788,153 (GRCm39)	missense	possibly damaging	0.94
R8406:Cyp2b13	UTSW	7	25,781,223 (GRCm39)	missense	probably benign	0.01
R9418:Cyp2b13	UTSW	7	25,761,110 (GRCm39)	missense	probably benign	0.36
R9557:Cyp2b13	UTSW	7	25,780,123 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTGCTTAAGAAATGGGAGTCC -3'
(R):5'- GCCTCTCTCATCCATGCAGG -3'

Sequencing Primer
(F):5'- CCATGTAAGGCCCAGTGTTC -3'
(R):5'- GGATTAACCTTCTCCATCCTCAGCAG -3'

Posted On

2018-06-22