Mutagenetix > Incidental Mutation

Incidental Mutation 'R7694:Cyp26a1'

593580

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

045757-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7694 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37686246-37689984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37689512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 403 (D403N)

Ref Sequence

ENSEMBL: ENSMUSP00000025946 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025946
AA Change: D403N

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: D403N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	G	17: 14,109,144 (GRCm39)	S1571A	probably damaging	Het
Agbl1	C	A	7: 76,348,513 (GRCm39)	A870D	unknown	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Ankrd55	T	C	13: 112,504,498 (GRCm39)	Y415H	probably damaging	Het
Cd69	G	A	6: 129,247,008 (GRCm39)	R111C	possibly damaging	Het
Cdh26	A	T	2: 178,101,896 (GRCm39)	T172S	probably damaging	Het
Cflar	T	A	1: 58,791,966 (GRCm39)	V423E		Het
Cgrrf1	A	C	14: 47,091,415 (GRCm39)	Q313P	possibly damaging	Het
Chga	G	A	12: 102,527,606 (GRCm39)	A87T	probably benign	Het
Chrna4	T	A	2: 180,660,386 (GRCm39)	D102V		Het
Cpvl	A	T	6: 53,909,502 (GRCm39)	Y211*	probably null	Het
Dchs2	T	C	3: 83,036,789 (GRCm39)	L512P	probably damaging	Het
Dll3	A	C	7: 28,001,170 (GRCm39)	M1R	probably null	Het
Dnah12	A	G	14: 26,503,337 (GRCm39)	T1564A	probably damaging	Het
Efhb	A	G	17: 53,707,836 (GRCm39)	S776P	probably damaging	Het
Eml5	T	C	12: 98,758,822 (GRCm39)	S1831G	probably damaging	Het
Fat1	G	T	8: 45,441,967 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,632,375 (GRCm39)	K1255E	probably benign	Het
Fitm2	C	T	2: 163,311,892 (GRCm39)	C107Y	probably damaging	Het
Gdpd4	T	C	7: 97,621,146 (GRCm39)	V153A	probably benign	Het
Ggnbp2	A	G	11: 84,751,539 (GRCm39)	V87A	possibly damaging	Het
Glb1l	G	T	1: 75,178,436 (GRCm39)	A334E	probably damaging	Het
Gnas	T	G	2: 174,142,005 (GRCm39)	L784R	probably damaging	Het
Gtf2i	C	T	5: 134,311,659 (GRCm39)	E223K	probably damaging	Het
H2-M10.5	T	C	17: 37,084,641 (GRCm39)	Y122H	probably damaging	Het
Hikeshi	G	A	7: 89,579,554 (GRCm39)	Q6*	probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Irak2	A	C	6: 113,667,859 (GRCm39)	D528A	probably damaging	Het
Lcn2	A	G	2: 32,278,042 (GRCm39)	C17R	unknown	Het
Lcp2	G	T	11: 34,000,924 (GRCm39)	V36L	probably benign	Het
Lin7c	T	C	2: 109,726,617 (GRCm39)	S89P	probably benign	Het
Lrrc37a	C	T	11: 103,395,204 (GRCm39)	A74T	probably benign	Het
Lrrtm3	T	A	10: 63,923,818 (GRCm39)	M450L	probably benign	Het
Lsm11	C	T	11: 45,824,768 (GRCm39)	R253Q	probably benign	Het
Map9	A	T	3: 82,266,290 (GRCm39)		probably benign	Het
Mmp2	T	A	8: 93,558,358 (GRCm39)	D142E	possibly damaging	Het
Nrn1l	A	T	8: 106,621,430 (GRCm39)	T127S	probably damaging	Het
Or14c46	T	C	7: 85,918,983 (GRCm39)	T5A	probably damaging	Het
Pelp1	G	A	11: 70,285,585 (GRCm39)	T761I	probably damaging	Het
Pmm2	T	A	16: 8,463,254 (GRCm39)	V63E	probably damaging	Het
Ptprb	T	A	10: 116,208,853 (GRCm39)	L1942H	probably damaging	Het
Ptprk	T	A	10: 28,465,366 (GRCm39)	C1350S	possibly damaging	Het
Rnf44	A	G	13: 54,829,841 (GRCm39)	V381A	probably damaging	Het
Robo3	G	A	9: 37,329,816 (GRCm39)	P1167S	probably benign	Het
Ryk	A	G	9: 102,775,979 (GRCm39)	E489G	probably damaging	Het
Satb2	T	A	1: 56,910,683 (GRCm39)	I321L	probably benign	Het
Sh2b1	A	T	7: 126,066,929 (GRCm39)	V655E	probably benign	Het
Slc16a12	G	A	19: 34,648,035 (GRCm39)	T486M	probably damaging	Het
Slc34a1	G	T	13: 55,561,221 (GRCm39)	R562L	probably benign	Het
Slc4a9	A	G	18: 36,669,902 (GRCm39)	E779G	probably damaging	Het
Strc	C	A	2: 121,207,577 (GRCm39)	C598F	probably damaging	Het
Stxbp6	A	T	12: 44,948,810 (GRCm39)	F100I	probably damaging	Het
Tap2	A	G	17: 34,424,671 (GRCm39)	T135A	probably benign	Het
Tmcc1	G	A	6: 116,110,805 (GRCm39)	P159S		Het
Tmem106b	T	A	6: 13,078,105 (GRCm39)	M100K	probably benign	Het
Ttn	T	A	2: 76,578,039 (GRCm39)	T24285S	probably damaging	Het
Vmn1r116	G	A	7: 20,606,337 (GRCm39)	V53M	possibly damaging	Het
Zar1	A	T	5: 72,738,193 (GRCm39)	S70T	probably benign	Het
Zfp235	C	T	7: 23,841,525 (GRCm39)	T648M	probably benign	Het
Zfp937	C	T	2: 150,081,268 (GRCm39)	H433Y	probably damaging	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
R0834:Cyp26a1	UTSW	19	37,688,405 (GRCm39)	missense	probably damaging	0.96
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
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'- TCACTGCCCTTGACAGTGTC -3'
(R):5'- TTAGAAGCTGCCAATCACAGTG -3'

Sequencing Primer
(F):5'- TGCCTCCTATGGTACTGGGAAC -3'
(R):5'- GCTGCCAATCACAGTGCCTAG -3'

Posted On

2019-11-12