Mutagenetix > Incidental Mutation

Incidental Mutation 'R1512:Cyp26b1'

168412

Institutional Source

Beutler Lab

Gene Symbol

Cyp26b1

Ensembl Gene

ENSMUSG00000063415

Gene Name

cytochrome P450, family 26, subfamily b, polypeptide 1

Synonyms

retinoic acid B1, CP26, P450RAI-2

MMRRC Submission

039559-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1512 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

84548396-84570890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84553979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 213 (V213L)

Ref Sequence

ENSEMBL: ENSMUSP00000145092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077705] [ENSMUST00000168003] [ENSMUST00000204109] [ENSMUST00000204146] [ENSMUST00000205228]

AlphaFold

Q811W2

Predicted Effect

probably benign
Transcript: ENSMUST00000077705
AA Change: V213L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076886
Gene: ENSMUSG00000063415
AA Change: V213L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	50	490	8.1e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168003
AA Change: V213L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128391
Gene: ENSMUSG00000063415
AA Change: V213L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	50	490	8.1e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204109
AA Change: V138L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144998
Gene: ENSMUSG00000063415
AA Change: V138L

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:p450	65	415	5.8e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204146
AA Change: V213L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145092
Gene: ENSMUSG00000063415
AA Change: V213L

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	50	490	8.1e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205228
AA Change: V22L

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

SMART Domains

Protein: ENSMUSP00000144836
Gene: ENSMUSG00000063415
AA Change: V22L

Domain	Start	End	E-Value	Type
Pfam:p450	13	299	5.9e-49	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

95% (79/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Limb morphogenesis and proximal-distal patterning is disrupted in homozygous null fetuses. Mutant mice are born, however they die immediately after birth exhibiting respiratory distress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,086,295 (GRCm39)	D40E	probably benign	Het
Acsf2	C	T	11: 94,452,224 (GRCm39)		probably benign	Het
Adamts19	C	T	18: 59,181,917 (GRCm39)	H1119Y	possibly damaging	Het
Akap6	A	G	12: 52,983,937 (GRCm39)	D827G	probably damaging	Het
Ankrd33b	T	C	15: 31,367,375 (GRCm39)	D55G	probably damaging	Het
Ano5	T	A	7: 51,229,316 (GRCm39)	H569Q	probably benign	Het
Aox1	A	G	1: 58,346,510 (GRCm39)	D548G	probably benign	Het
Baz2a	A	G	10: 127,960,021 (GRCm39)	D1433G	possibly damaging	Het
BC031181	T	G	18: 75,141,767 (GRCm39)	V8G	probably damaging	Het
Bicdl2	A	T	17: 23,887,083 (GRCm39)	M457L	probably damaging	Het
C130074G19Rik	T	C	1: 184,615,103 (GRCm39)	D29G	probably damaging	Het
Cd200r1	A	T	16: 44,586,390 (GRCm39)	T7S	probably benign	Het
Cdc37	A	G	9: 21,053,712 (GRCm39)		probably benign	Het
Cmtr2	T	C	8: 110,949,267 (GRCm39)	S526P	probably damaging	Het
Cntn2	G	T	1: 132,451,430 (GRCm39)	A433D	probably damaging	Het
Cntnap5a	T	C	1: 115,828,680 (GRCm39)	S35P	probably benign	Het
Csf3r	A	G	4: 125,923,777 (GRCm39)	T96A	possibly damaging	Het
Ctbs	A	G	3: 146,160,720 (GRCm39)	N96D	probably benign	Het
Dach1	A	G	14: 98,138,835 (GRCm39)	L536P	probably damaging	Het
Dcaf6	T	C	1: 165,179,589 (GRCm39)	Q517R	probably benign	Het
Dnah1	G	T	14: 31,014,994 (GRCm39)	Q1733K	probably damaging	Het
Dnah17	A	T	11: 117,985,841 (GRCm39)	I1416N	probably benign	Het
Dock11	G	A	X: 35,283,688 (GRCm39)	R1102H	probably damaging	Het
Dpp8	T	C	9: 64,971,096 (GRCm39)		probably benign	Het
Emc1	G	A	4: 139,087,495 (GRCm39)		probably null	Het
Emc8	A	G	8: 121,384,983 (GRCm39)	L76P	possibly damaging	Het
Emx2	T	C	19: 59,448,035 (GRCm39)	Y130H	possibly damaging	Het
Fbf1	C	T	11: 116,038,753 (GRCm39)	R815Q	probably damaging	Het
Foxb2	G	A	19: 16,849,878 (GRCm39)	P376L	probably damaging	Het
Gabrb1	C	A	5: 72,266,047 (GRCm39)	L202I	probably damaging	Het
Gabrb1	T	A	5: 72,266,048 (GRCm39)	L202Q	probably damaging	Het
Grin2c	T	A	11: 115,144,676 (GRCm39)	I617F	probably damaging	Het
Gtf2h3	T	A	5: 124,728,933 (GRCm39)	V164E	probably damaging	Het
Gusb	T	C	5: 130,029,731 (GRCm39)	Q88R	probably damaging	Het
Hormad2	T	A	11: 4,374,788 (GRCm39)	K75N	probably damaging	Het
Il33	A	G	19: 29,929,390 (GRCm39)	T38A	possibly damaging	Het
Ivns1abp	A	T	1: 151,236,687 (GRCm39)	Q416L	possibly damaging	Het
Ivns1abp	G	C	1: 151,236,688 (GRCm39)	Q416H	probably benign	Het
Kcnh5	T	A	12: 75,166,711 (GRCm39)	H178L	probably benign	Het
Kif21b	A	G	1: 136,080,543 (GRCm39)	N579S	probably benign	Het
Kif26a	G	C	12: 112,113,389 (GRCm39)	R95P	possibly damaging	Het
Kl	A	G	5: 150,912,062 (GRCm39)	I604V	probably benign	Het
Klhl24	A	G	16: 19,941,686 (GRCm39)	K545E	probably damaging	Het
Mcm3ap	A	G	10: 76,306,347 (GRCm39)	I153M	probably damaging	Het
Meis1	T	G	11: 18,831,682 (GRCm39)	D452A	probably damaging	Het
Msantd4	C	T	9: 4,384,138 (GRCm39)	P153L	probably benign	Het
Myot	A	G	18: 44,475,422 (GRCm39)	E181G	probably damaging	Het
Nf1	T	C	11: 79,281,195 (GRCm39)	F150S	probably damaging	Het
Nyap2	T	A	1: 81,219,566 (GRCm39)	S529R	probably damaging	Het
Or10d3	T	C	9: 39,461,390 (GRCm39)	Y259C	probably damaging	Het
Or12e10	A	T	2: 87,640,988 (GRCm39)	T275S	probably benign	Het
Or2y1c	A	G	11: 49,361,286 (GRCm39)	I103V	probably benign	Het
Or8b56	T	A	9: 38,739,660 (GRCm39)	Y224*	probably null	Het
Pcnt	C	T	10: 76,240,496 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,455,289 (GRCm39)		probably null	Het
Pkdcc	A	T	17: 83,527,473 (GRCm39)	Y217F	possibly damaging	Het
Pnpla6	C	A	8: 3,585,459 (GRCm39)		probably benign	Het
Polr3gl	T	C	3: 96,488,190 (GRCm39)	M26V	probably benign	Het
Ppp1r13b	T	C	12: 111,838,842 (GRCm39)	N12S	possibly damaging	Het
Ppp1r26	G	A	2: 28,341,528 (GRCm39)	R386K	probably benign	Het
Prdm10	A	G	9: 31,248,697 (GRCm39)	E355G	probably damaging	Het
Prex2	T	C	1: 11,131,554 (GRCm39)	F41S	possibly damaging	Het
Prkar1b	G	T	5: 139,036,428 (GRCm39)	Y231*	probably null	Het
Prkdc	A	T	16: 15,505,268 (GRCm39)	I857L	probably benign	Het
Psg21	A	T	7: 18,390,425 (GRCm39)	N10K	probably benign	Het
Rapgef3	A	T	15: 97,655,382 (GRCm39)	V444E	probably benign	Het
Rnf17	A	T	14: 56,705,243 (GRCm39)	T716S	probably benign	Het
Rps6ka1	C	T	4: 133,578,315 (GRCm39)	R577H	probably damaging	Het
Scn1a	A	C	2: 66,161,629 (GRCm39)	N306K	possibly damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Ssu2	A	G	6: 112,364,959 (GRCm39)	M1T	probably null	Het
Stag3	A	T	5: 138,296,247 (GRCm39)	T437S	probably benign	Het
Tal2	A	G	4: 53,786,107 (GRCm39)	Y96C	probably benign	Het
Thoc3	A	T	13: 54,613,991 (GRCm39)		probably null	Het
Tle1	T	C	4: 72,059,495 (GRCm39)	D19G	probably damaging	Het
Trpm4	A	G	7: 44,964,468 (GRCm39)	I690T	probably benign	Het
Trpm6	A	T	19: 18,853,295 (GRCm39)	M1772L	probably benign	Het
Unc5b	G	A	10: 60,667,254 (GRCm39)		probably benign	Het
Usf3	G	T	16: 44,041,561 (GRCm39)	V2014F	probably damaging	Het
Utp18	C	T	11: 93,776,390 (GRCm39)	A32T	probably benign	Het
Wdfy4	A	G	14: 32,682,765 (GRCm39)	V2981A	probably damaging	Het
Zfp608	A	G	18: 55,079,738 (GRCm39)	V349A	probably damaging	Het
Znfx1	A	C	2: 166,898,237 (GRCm39)	I229S	probably benign	Het

Other mutations in Cyp26b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01713:Cyp26b1	APN	6	84,551,283 (GRCm39)	missense	probably benign	0.00
IGL02530:Cyp26b1	APN	6	84,551,294 (GRCm39)	missense	possibly damaging	0.95
IGL02624:Cyp26b1	APN	6	84,561,321 (GRCm39)	missense	probably benign	0.00
IGL02676:Cyp26b1	APN	6	84,553,626 (GRCm39)	missense	probably damaging	1.00
R0125:Cyp26b1	UTSW	6	84,551,497 (GRCm39)	missense	probably damaging	1.00
R0127:Cyp26b1	UTSW	6	84,554,190 (GRCm39)	splice site	probably benign
R0268:Cyp26b1	UTSW	6	84,551,554 (GRCm39)	missense	probably damaging	1.00
R0281:Cyp26b1	UTSW	6	84,551,538 (GRCm39)	missense	probably damaging	1.00
R0575:Cyp26b1	UTSW	6	84,552,288 (GRCm39)	splice site	probably benign
R1167:Cyp26b1	UTSW	6	84,561,312 (GRCm39)	missense	probably damaging	1.00
R1171:Cyp26b1	UTSW	6	84,553,653 (GRCm39)	missense	possibly damaging	0.64
R1791:Cyp26b1	UTSW	6	84,561,441 (GRCm39)	missense	probably benign	0.05
R1799:Cyp26b1	UTSW	6	84,561,254 (GRCm39)	missense	probably benign	0.37
R2065:Cyp26b1	UTSW	6	84,553,537 (GRCm39)	missense	probably benign	0.00
R2103:Cyp26b1	UTSW	6	84,552,032 (GRCm39)	missense	possibly damaging	0.67
R2900:Cyp26b1	UTSW	6	84,553,623 (GRCm39)	missense	possibly damaging	0.70
R4510:Cyp26b1	UTSW	6	84,551,473 (GRCm39)	missense	probably damaging	1.00
R4511:Cyp26b1	UTSW	6	84,551,473 (GRCm39)	missense	probably damaging	1.00
R4934:Cyp26b1	UTSW	6	84,553,954 (GRCm39)	missense	possibly damaging	0.65
R5585:Cyp26b1	UTSW	6	84,554,171 (GRCm39)	missense	probably damaging	0.99
R7229:Cyp26b1	UTSW	6	84,554,132 (GRCm39)	nonsense	probably null
R7497:Cyp26b1	UTSW	6	84,553,964 (GRCm39)	missense	possibly damaging	0.55
R7672:Cyp26b1	UTSW	6	84,561,351 (GRCm39)	missense	probably benign	0.04
R8346:Cyp26b1	UTSW	6	84,554,150 (GRCm39)	missense	probably benign	0.21
R9020:Cyp26b1	UTSW	6	84,552,056 (GRCm39)	missense	probably benign	0.09
R9029:Cyp26b1	UTSW	6	84,554,035 (GRCm39)	missense	probably benign	0.20
R9042:Cyp26b1	UTSW	6	84,553,590 (GRCm39)	missense	probably benign	0.18
R9068:Cyp26b1	UTSW	6	84,551,379 (GRCm39)	missense	probably damaging	0.96
R9536:Cyp26b1	UTSW	6	84,553,999 (GRCm39)	missense	probably benign	0.02
R9779:Cyp26b1	UTSW	6	84,552,113 (GRCm39)	missense	probably benign
X0063:Cyp26b1	UTSW	6	84,552,100 (GRCm39)	missense	probably benign	0.00
Z1176:Cyp26b1	UTSW	6	84,554,096 (GRCm39)	missense	probably benign	0.01
Z1177:Cyp26b1	UTSW	6	84,554,101 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATTTCTCTCCCAAAGGCAGTCC -3'
(R):5'- TGTGACCAGACACTCATCCCACTTC -3'

Sequencing Primer
(F):5'- CAAAGGCAGTCCTATGCTTTC -3'
(R):5'- TTCAGCCATGAGGCACTTG -3'

Posted On

2014-04-13