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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6616 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26061497-26096197 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26085881 bp (GRCm38)

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: 24,384,535	H567L	probably damaging	Het
Adck1	T	A	12: 88,461,188	M525K	unknown	Het
Alpi	T	C	1: 87,101,114	I74V	possibly damaging	Het
Creb5	A	C	6: 53,685,310	Q197H	possibly damaging	Het
Dock1	G	A	7: 135,108,492	E1143K	possibly damaging	Het
Eef2kmt	T	A	16: 5,247,482	D287V	probably damaging	Het
Eif2ak4	T	A	2: 118,454,845	Y1046*	probably null	Het
Fbxw10	T	A	11: 62,853,024	M252K	probably benign	Het
Fnip2	A	C	3: 79,480,882	H847Q	probably benign	Het
Frmd3	A	T	4: 74,187,488	D457V	probably damaging	Het
Gm13941	T	G	2: 111,101,175	E37D	unknown	Het
Gm8251	C	A	1: 44,061,474	V155L	possibly damaging	Het
Grin1	T	A	2: 25,292,110	I870F	possibly damaging	Het
Grin2b	A	C	6: 135,732,551	D1332E	probably benign	Het
Gtpbp4	G	A	13: 8,989,105	T201I	possibly damaging	Het
Heatr4	A	G	12: 83,980,130	C118R	probably benign	Het
Hltf	T	A	3: 20,109,487		probably null	Het
Hmcn1	C	T	1: 150,723,257		probably null	Het
Hpd	A	T	5: 123,172,060	L367Q	probably damaging	Het
Htr1b	A	G	9: 81,632,434	I40T	probably benign	Het
Il16	A	G	7: 83,646,476	S464P	probably benign	Het
Lrp1b	T	A	2: 40,699,631	D75V	unknown	Het
Map3k4	A	T	17: 12,271,344	L400Q	probably damaging	Het
Mcts2	T	A	2: 152,687,662	I131N	possibly damaging	Het
Mroh2b	A	C	15: 4,953,282	I1528L	probably benign	Het
Muc4	A	C	16: 32,782,008	D3467A	possibly damaging	Het
Mypn	A	T	10: 63,169,312	C339S	probably damaging	Het
Ncoa5	A	T	2: 165,010,563	Y130*	probably null	Het
Olfr1381	T	A	11: 49,552,041	V98E	probably damaging	Het
Olfr743	T	A	14: 50,533,907	I165N	probably benign	Het
Pcdha4	A	G	18: 36,953,900	T379A	probably benign	Het
Pkp4	C	G	2: 59,350,552	Y720*	probably null	Het
Prl5a1	C	T	13: 28,149,856	T114I	probably benign	Het
Rnd3	A	G	2: 51,134,157	S137P	probably damaging	Het
Rtel1	G	A	2: 181,352,786	E680K	possibly damaging	Het
Sbsn	T	A	7: 30,753,279	V573D	possibly damaging	Het
Scaf8	A	T	17: 3,168,055	L233F	unknown	Het
Sec23a	A	T	12: 58,997,155	I241K	possibly damaging	Het
Secisbp2l	A	T	2: 125,768,226	S258T	probably damaging	Het
Skint4	A	G	4: 112,118,230	H121R	possibly damaging	Het
Sptbn1	T	A	11: 30,124,030	E1346D	probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Stpg4	A	G	17: 87,422,696	Y74H	probably damaging	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tmc4	A	G	7: 3,671,058	V374A	possibly damaging	Het
Unc45b	G	A	11: 82,911,819	R47Q	probably damaging	Het
Xirp1	A	G	9: 120,019,014	S268P	probably damaging	Het
Zfp990	A	T	4: 145,537,145	I238L	probably benign	Het
Zswim5	A	G	4: 116,986,741	D992G	possibly damaging	Het

Other mutations in Cyp2b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Cyp2b13	APN	7	26081727	missense	probably benign	0.26
IGL01134:Cyp2b13	APN	7	26081700	missense	probably damaging	1.00
IGL02386:Cyp2b13	APN	7	26086013	missense	probably damaging	1.00
IGL02531:Cyp2b13	APN	7	26061605	missense	possibly damaging	0.55
IGL02960:Cyp2b13	APN	7	26061676	missense	probably benign	0.33
R0018:Cyp2b13	UTSW	7	26085950	missense	probably benign	0.30
R0018:Cyp2b13	UTSW	7	26085950	missense	probably benign	0.30
R0103:Cyp2b13	UTSW	7	26088710	missense	probably damaging	1.00
R0121:Cyp2b13	UTSW	7	26086585	missense	probably benign
R0392:Cyp2b13	UTSW	7	26085883	missense	probably benign	0.01
R0540:Cyp2b13	UTSW	7	26081711	missense	probably benign	0.07
R1887:Cyp2b13	UTSW	7	26088650	missense	probably damaging	1.00
R2416:Cyp2b13	UTSW	7	26095821	makesense	probably null
R2879:Cyp2b13	UTSW	7	26086031	critical splice donor site	probably null
R4654:Cyp2b13	UTSW	7	26061647	missense	probably damaging	1.00
R4735:Cyp2b13	UTSW	7	26088295	missense	probably benign
R4969:Cyp2b13	UTSW	7	26080988	missense	probably damaging	0.98
R5174:Cyp2b13	UTSW	7	26088693	missense	possibly damaging	0.68
R6243:Cyp2b13	UTSW	7	26061619	missense	probably damaging	1.00
R6647:Cyp2b13	UTSW	7	26085899	missense	possibly damaging	0.52
R6766:Cyp2b13	UTSW	7	26081811	critical splice donor site	probably null
R6844:Cyp2b13	UTSW	7	26081697	missense	probably damaging	1.00
R7431:Cyp2b13	UTSW	7	26061551	missense	probably damaging	0.96
R7593:Cyp2b13	UTSW	7	26080991	missense	possibly damaging	0.64
R7719:Cyp2b13	UTSW	7	26095670	missense	probably damaging	1.00
R7857:Cyp2b13	UTSW	7	26088728	missense	possibly damaging	0.94
R8406:Cyp2b13	UTSW	7	26081798	missense	probably benign	0.01
R9418:Cyp2b13	UTSW	7	26061685	missense	probably benign	0.36
R9557:Cyp2b13	UTSW	7	26080698	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