Mutagenetix > Incidental Mutation

Incidental Mutation 'R0834:Cyp26a1'

77778

Institutional Source

Beutler Lab

Gene Symbol

Cyp26a1

Ensembl Gene

ENSMUSG00000024987

Gene Name

cytochrome P450, family 26, subfamily a, polypeptide 1

Synonyms

retinoic acid hydrolase, P450RA, Cyp26, P450RAI, RAH

MMRRC Submission

039013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37686246-37689984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37688405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 309 (A309V)

Ref Sequence

ENSEMBL: ENSMUSP00000025946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025946]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025946
AA Change: A309V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: A309V

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:p450	45	487	2.4e-68	PFAM

Meta Mutation Damage Score

0.1586

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (86/86)

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 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 endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die during mid-late gestation and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,063,899 (GRCm39)	E66V	probably damaging	Het
Aldh1a3	T	C	7: 66,062,658 (GRCm39)	I156V	probably benign	Het
Ang4	T	A	14: 52,001,725 (GRCm39)	K74N	probably benign	Het
Arcn1	A	T	9: 44,670,172 (GRCm39)		probably benign	Het
Arhgef33	T	A	17: 80,655,026 (GRCm39)		probably benign	Het
Atn1	A	G	6: 124,720,188 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,185 (GRCm39)	H359R	probably damaging	Het
Bmerb1	T	C	16: 13,911,795 (GRCm39)	L47P	probably damaging	Het
Brip1	T	C	11: 86,083,653 (GRCm39)	T123A	probably benign	Het
Camkv	A	G	9: 107,823,045 (GRCm39)	Y95C	probably damaging	Het
Cdk12	T	A	11: 98,095,211 (GRCm39)	S340T	probably benign	Het
Ckap2l	G	A	2: 129,138,224 (GRCm39)		probably benign	Het
Clmn	A	T	12: 104,738,085 (GRCm39)	L1042Q	probably damaging	Het
Clmn	G	T	12: 104,738,086 (GRCm39)	L1042M	probably damaging	Het
Cluh	T	C	11: 74,554,631 (GRCm39)	V737A	probably benign	Het
Cpne8	A	G	15: 90,424,462 (GRCm39)	V309A	probably benign	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,747,073 (GRCm39)		probably benign	Het
Ctr9	T	A	7: 110,650,159 (GRCm39)	S818T	probably benign	Het
Dbndd2	C	T	2: 164,332,122 (GRCm39)	T115I	possibly damaging	Het
Dhcr7	A	G	7: 143,394,964 (GRCm39)	N157S	probably benign	Het
Dlx2	C	A	2: 71,375,859 (GRCm39)	V155F	probably damaging	Het
Duox1	A	T	2: 122,176,982 (GRCm39)	I1470F	probably damaging	Het
Esrrb	A	T	12: 86,517,071 (GRCm39)	I68F	probably benign	Het
Fhod3	T	A	18: 25,248,862 (GRCm39)	L1347*	probably null	Het
Fip1l1	T	C	5: 74,755,721 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,413,637 (GRCm39)	Y1966C	probably damaging	Het
Gatd3a	T	C	10: 77,998,539 (GRCm39)	D229G	probably damaging	Het
Ggt5	C	T	10: 75,440,604 (GRCm39)	R242C	possibly damaging	Het
Gm14496	G	A	2: 181,637,480 (GRCm39)	V185I	probably benign	Het
Gnptab	T	C	10: 88,265,814 (GRCm39)	V409A	probably damaging	Het
Gramd1a	A	G	7: 30,837,589 (GRCm39)	F390S	possibly damaging	Het
Helz2	A	G	2: 180,872,570 (GRCm39)	S2477P	probably damaging	Het
Hsd17b3	T	C	13: 64,236,936 (GRCm39)	K3E	probably benign	Het
Ift172	T	C	5: 31,414,715 (GRCm39)	H1395R	probably benign	Het
Jam2	T	A	16: 84,609,855 (GRCm39)	C180S	probably damaging	Het
Kalrn	A	C	16: 33,870,289 (GRCm39)	S160A	possibly damaging	Het
Kcnk3	T	C	5: 30,779,979 (GRCm39)	I343T	probably damaging	Het
Kif13a	T	C	13: 46,967,712 (GRCm39)	E334G	probably damaging	Het
Klhl41	A	G	2: 69,508,491 (GRCm39)	K482E	possibly damaging	Het
Lig3	A	G	11: 82,689,113 (GRCm39)	E794G	probably damaging	Het
Myh13	T	C	11: 67,240,436 (GRCm39)	M780T	possibly damaging	Het
Ndst2	A	G	14: 20,779,761 (GRCm39)	Y160H	probably damaging	Het
Ndufb10	T	C	17: 24,941,648 (GRCm39)	M90V	probably damaging	Het
Obscn	T	C	11: 59,024,104 (GRCm39)	K522R	probably benign	Het
Olfml2b	T	C	1: 170,475,413 (GRCm39)	S113P	probably benign	Het
Or14a257	T	A	7: 86,138,698 (GRCm39)	E20D	probably benign	Het
Or4a78	A	G	2: 89,497,423 (GRCm39)	I269T	probably benign	Het
Or4d10b	T	A	19: 12,036,979 (GRCm39)	M46L	probably benign	Het
Or51v14	T	C	7: 103,261,444 (GRCm39)	T39A	probably benign	Het
Or6k2	T	A	1: 173,986,930 (GRCm39)	M197K	possibly damaging	Het
Parg	T	C	14: 31,936,511 (GRCm39)		probably benign	Het
Pde7a	C	T	3: 19,284,482 (GRCm39)	C367Y	probably damaging	Het
Pigr	T	A	1: 130,772,281 (GRCm39)	C166*	probably null	Het
Pip4k2c	A	T	10: 127,036,704 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prkd2	A	T	7: 16,599,602 (GRCm39)		probably benign	Het
Ptprt	G	T	2: 161,654,059 (GRCm39)		probably null	Het
Rapgef5	C	T	12: 117,610,741 (GRCm39)		probably benign	Het
Retreg1	T	C	15: 25,971,756 (GRCm39)	L356P	probably benign	Het
Rigi	T	A	4: 40,239,596 (GRCm39)	E34V	possibly damaging	Het
Rnf43	A	G	11: 87,622,077 (GRCm39)	T393A	probably benign	Het
Samd3	T	C	10: 26,147,725 (GRCm39)	S467P	probably benign	Het
Scarf1	C	A	11: 75,405,229 (GRCm39)	C89*	probably null	Het
Sdk1	T	C	5: 141,227,779 (GRCm39)	L59S	probably benign	Het
Sgca	C	T	11: 94,861,512 (GRCm39)	W244*	probably null	Het
Sh3d21	T	C	4: 126,045,065 (GRCm39)	K538R	probably benign	Het
Smyd4	T	A	11: 75,281,958 (GRCm39)	L477Q	possibly damaging	Het
Sra1	A	G	18: 36,801,829 (GRCm39)	M87T	probably benign	Het
Ssh2	T	C	11: 77,328,459 (GRCm39)	Y336H	possibly damaging	Het
Steap1	T	C	5: 5,790,357 (GRCm39)	Y197C	probably damaging	Het
Strn3	A	G	12: 51,673,879 (GRCm39)		probably benign	Het
Tgm3	A	G	2: 129,868,677 (GRCm39)	T205A	probably benign	Het
Tll2	G	A	19: 41,101,512 (GRCm39)	T374I	probably damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Trim10	G	A	17: 37,183,283 (GRCm39)	S193N	probably benign	Het
Ttf1	A	T	2: 28,963,962 (GRCm39)	K613*	probably null	Het
Tube1	T	A	10: 39,010,168 (GRCm39)		probably null	Het
Uimc1	T	A	13: 55,224,222 (GRCm39)		probably null	Het
Wwp2	G	T	8: 108,283,428 (GRCm39)		probably benign	Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp292	T	C	4: 34,809,114 (GRCm39)	D1310G	probably benign	Het
Zfp575	A	T	7: 24,285,245 (GRCm39)	L132H	probably damaging	Het
Zmym2	T	C	14: 57,194,420 (GRCm39)	F1226S	probably damaging	Het
Zswim6	A	C	13: 107,862,989 (GRCm39)		noncoding transcript	Het

Other mutations in Cyp26a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Cyp26a1	APN	19	37,688,450 (GRCm39)	missense	probably benign	0.00
IGL01398:Cyp26a1	APN	19	37,686,395 (GRCm39)	missense	probably damaging	1.00
IGL01624:Cyp26a1	APN	19	37,686,781 (GRCm39)	missense	possibly damaging	0.94
IGL02398:Cyp26a1	APN	19	37,688,467 (GRCm39)	missense	probably benign
IGL02437:Cyp26a1	APN	19	37,686,943 (GRCm39)	missense	probably benign
IGL02709:Cyp26a1	APN	19	37,688,426 (GRCm39)	missense	probably damaging	1.00
IGL02712:Cyp26a1	APN	19	37,688,426 (GRCm39)	missense	probably damaging	1.00
R1517:Cyp26a1	UTSW	19	37,687,308 (GRCm39)	missense	probably benign
R1696:Cyp26a1	UTSW	19	37,689,626 (GRCm39)	missense	probably benign	0.02
R1831:Cyp26a1	UTSW	19	37,689,071 (GRCm39)	missense	probably damaging	0.98
R2040:Cyp26a1	UTSW	19	37,686,499 (GRCm39)	missense	possibly damaging	0.46
R2504:Cyp26a1	UTSW	19	37,686,790 (GRCm39)	missense	probably damaging	1.00
R4693:Cyp26a1	UTSW	19	37,686,925 (GRCm39)	missense	probably benign	0.11
R4808:Cyp26a1	UTSW	19	37,689,573 (GRCm39)	missense	probably benign
R5124:Cyp26a1	UTSW	19	37,689,665 (GRCm39)	missense	probably benign	0.01
R5412:Cyp26a1	UTSW	19	37,689,630 (GRCm39)	missense	probably damaging	1.00
R5964:Cyp26a1	UTSW	19	37,688,410 (GRCm39)	missense	probably damaging	1.00
R6355:Cyp26a1	UTSW	19	37,687,377 (GRCm39)	missense	possibly damaging	0.46
R6426:Cyp26a1	UTSW	19	37,687,753 (GRCm39)	missense	probably benign	0.14
R6501:Cyp26a1	UTSW	19	37,687,518 (GRCm39)	missense	possibly damaging	0.80
R6734:Cyp26a1	UTSW	19	37,689,660 (GRCm39)	missense	probably damaging	1.00
R7019:Cyp26a1	UTSW	19	37,687,260 (GRCm39)	missense	probably damaging	1.00
R7188:Cyp26a1	UTSW	19	37,687,753 (GRCm39)	missense	possibly damaging	0.64
R7667:Cyp26a1	UTSW	19	37,689,072 (GRCm39)	missense	possibly damaging	0.83
R7694:Cyp26a1	UTSW	19	37,689,512 (GRCm39)	missense	possibly damaging	0.80
R8136:Cyp26a1	UTSW	19	37,689,654 (GRCm39)	missense	probably benign	0.00
R9198:Cyp26a1	UTSW	19	37,686,790 (GRCm39)	missense	probably damaging	1.00
R9674:Cyp26a1	UTSW	19	37,689,726 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTCAAAGGGCAAGGCTCATCTAC -3'
(R):5'- GGAGAGGGTCAAATTCTGCCCAAG -3'

Sequencing Primer
(F):5'- CTCATCTACAAAGGTTAAAGCGG -3'
(R):5'- CCTTTTTAAATTCACGAGGTGGAGTC -3'

Posted On

2013-10-16