Mutagenetix > Incidental Mutation

Incidental Mutation 'R0281:Cyp26b1'

37517

Institutional Source

Beutler Lab

Gene Symbol

Cyp26b1

Ensembl Gene

ENSMUSG00000063415

Gene Name

cytochrome P450, family 26, subfamily b, polypeptide 1

Synonyms

P450RAI-2, CP26, retinoic acid B1

MMRRC Submission

038503-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0281 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84571414-84593908 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84574556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 417 (F417Y)

Ref Sequence

ENSEMBL: ENSMUSP00000145092 (fasta)

Gene Model

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

AlphaFold

Q811W2

Predicted Effect

probably damaging
Transcript: ENSMUST00000077705
AA Change: F417Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076886
Gene: ENSMUSG00000063415
AA Change: F417Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168003
AA Change: F417Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128391
Gene: ENSMUSG00000063415
AA Change: F417Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204109
AA Change: F342Y

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144998
Gene: ENSMUSG00000063415
AA Change: F342Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204146
AA Change: F417Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145092
Gene: ENSMUSG00000063415
AA Change: F417Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205228
AA Change: F226Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144836
Gene: ENSMUSG00000063415
AA Change: F226Y

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

Meta Mutation Damage Score

0.5258

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (104/106)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2610507B11Rik	C	T	11: 78,271,924	L871F	possibly damaging	Het
4933430I17Rik	A	T	4: 62,546,067	R374*	probably null	Het
5930422O12Rik	A	T	8: 33,429,379	R76*	probably null	Het
A1cf	G	A	19: 31,945,814	A505T	probably benign	Het
Abcc5	T	A	16: 20,422,400	I12F	probably damaging	Het
Abcf2	T	C	5: 24,566,564	E555G	probably damaging	Het
Acan	A	T	7: 79,100,285	E1601D	probably damaging	Het
Adam2	T	A	14: 66,037,606	K559N	probably benign	Het
Akap11	A	C	14: 78,510,089	D1619E	possibly damaging	Het
Ankrd11	T	C	8: 122,895,568	D515G	probably benign	Het
Ankrd27	T	A	7: 35,619,371	N562K	probably damaging	Het
Atp10b	T	C	11: 43,153,304	I119T	probably benign	Het
Atr	T	C	9: 95,937,566	I2202T	probably benign	Het
BC067074	A	T	13: 113,369,143	I727F	probably damaging	Het
Brd4	T	A	17: 32,213,540		probably benign	Het
Catsperg2	C	T	7: 29,706,571	C634Y	possibly damaging	Het
Cep192	A	G	18: 67,828,482		probably benign	Het
Cfap65	T	A	1: 74,927,071	I366F	probably damaging	Het
Cnga4	G	T	7: 105,407,668	R326L	probably damaging	Het
Cntnap5b	T	A	1: 100,072,153	M212K	probably benign	Het
Col6a6	T	A	9: 105,784,116	M265L	probably benign	Het
Dhx15	A	T	5: 52,150,746	M768K	probably benign	Het
Drc7	G	A	8: 95,071,253	R433H	possibly damaging	Het
Duox2	C	T	2: 122,292,304	V550M	probably benign	Het
Elmo2	A	G	2: 165,296,890	L456P	probably damaging	Het
Fbxo39	T	C	11: 72,317,530	I236T	probably benign	Het
Fezf2	A	G	14: 12,343,977	C305R	probably damaging	Het
Fndc3b	C	A	3: 27,457,006	C785F	probably benign	Het
Gm12253	T	C	11: 58,440,012		probably benign	Het
Gnat2	T	A	3: 108,095,562	Y95*	probably null	Het
Gopc	T	C	10: 52,350,678	K220E	probably damaging	Het
Hectd4	G	A	5: 121,254,251	D193N	possibly damaging	Het
Hexa	G	A	9: 59,554,226		probably null	Het
Hspa4l	T	C	3: 40,785,408		probably benign	Het
Hspa5	T	C	2: 34,774,320	S301P	probably damaging	Het
Ice1	A	T	13: 70,604,047	S1307T	possibly damaging	Het
Igtp	T	C	11: 58,206,054	L17P	probably damaging	Het
Itk	T	C	11: 46,353,916	Y225C	probably damaging	Het
Kifc3	A	G	8: 95,103,460	V560A	probably damaging	Het
Lama1	A	G	17: 67,817,569	N2875D	probably damaging	Het
Lasp1	C	A	11: 97,806,851	C32*	probably null	Het
Lcp2	T	A	11: 34,069,854		probably benign	Het
Lhx9	C	T	1: 138,832,904	G236D	probably benign	Het
Lrrc38	A	T	4: 143,350,409	I81F	probably damaging	Het
Ly6a	C	T	15: 74,995,387	V94M	probably benign	Het
Map3k13	A	G	16: 21,914,157	E503G	probably damaging	Het
Mertk	T	C	2: 128,782,621		probably benign	Het
Mkl2	T	A	16: 13,412,163	I915N	probably damaging	Het
Msantd2	G	A	9: 37,523,219	D252N	possibly damaging	Het
Mtmr12	T	A	15: 12,257,706	L290*	probably null	Het
Myo3a	T	C	2: 22,245,598	I92T	probably benign	Het
Naglu	T	A	11: 101,074,027	N313K	probably damaging	Het
Nceh1	T	C	3: 27,222,804	V92A	possibly damaging	Het
Ncf4	A	G	15: 78,250,883	T47A	probably damaging	Het
Nrp1	T	A	8: 128,460,683	F403L	probably damaging	Het
Nxph3	T	C	11: 95,511,256	T111A	possibly damaging	Het
Obscn	T	A	11: 59,038,615	E6061V	probably damaging	Het
Obsl1	C	A	1: 75,492,927	G1149W	probably damaging	Het
Olfr1162	C	T	2: 88,050,412	V71I	possibly damaging	Het
Olfr1370	T	A	13: 21,072,374	Y309F	probably benign	Het
Olfr1487	A	G	19: 13,619,485	T65A	probably benign	Het
Olfr267	A	T	4: 58,784,981	V247E	probably damaging	Het
Olfr292	A	G	7: 86,694,860	T135A	probably benign	Het
Olfr493	A	C	7: 108,346,914	D22E	probably benign	Het
Olfr814	T	A	10: 129,874,546	L70F	possibly damaging	Het
Pde9a	T	C	17: 31,455,106	V55A	probably damaging	Het
Pip4k2c	A	T	10: 127,205,821		probably null	Het
Plvap	T	C	8: 71,511,382	N112S	probably damaging	Het
Pop1	T	A	15: 34,529,858		probably null	Het
Ppip5k2	T	C	1: 97,716,553	H1113R	possibly damaging	Het
Ptprk	A	T	10: 28,573,392	I962F	probably damaging	Het
Rad51ap2	T	C	12: 11,457,042	S322P	possibly damaging	Het
Rasal1	A	G	5: 120,674,605	T565A	probably benign	Het
Rbm15	C	A	3: 107,331,155	R642S	probably damaging	Het
Rpsa	G	A	9: 120,131,003	E211K	possibly damaging	Het
Ryr3	A	G	2: 112,686,810	S3303P	probably damaging	Het
Scg2	T	A	1: 79,435,512	N458I	possibly damaging	Het
Setx	A	G	2: 29,179,643	T2487A	probably benign	Het
Slc4a5	G	A	6: 83,267,567		probably benign	Het
Slc8a2	T	A	7: 16,140,989	D387E	probably benign	Het
Smarcc2	A	G	10: 128,474,722	T407A	probably benign	Het
Snap25	A	G	2: 136,777,464	D179G	probably damaging	Het
Socs4	T	C	14: 47,289,868	S74P	probably benign	Het
Sp6	T	A	11: 97,021,925	Y155N	probably benign	Het
Srrt	C	T	5: 137,296,127		probably benign	Het
Steap1	C	T	5: 5,736,431	M335I	probably benign	Het
Stra6	A	T	9: 58,145,489	Y250F	probably benign	Het
Svil	T	C	18: 5,094,582	S1421P	probably damaging	Het
Tcea3	G	A	4: 136,271,366	C317Y	probably damaging	Het
Tmco6	T	C	18: 36,737,704	L117S	probably damaging	Het
Trp53bp1	T	C	2: 121,270,237	K89E	probably damaging	Het
Trp63	T	A	16: 25,764,302		probably benign	Het
Ube2d2a	A	G	18: 35,800,132	Y74C	probably damaging	Het
Usp19	T	G	9: 108,498,509	F885V	probably damaging	Het
Utp18	T	A	11: 93,882,177		probably benign	Het
Vmn2r116	T	C	17: 23,401,413	I707T	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Zfp318	C	T	17: 46,412,614	P1848S	probably benign	Het
Zfp984	G	T	4: 147,755,265	N376K	probably benign	Het

Other mutations in Cyp26b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01713:Cyp26b1	APN	6	84574301	missense	probably benign	0.00
IGL02530:Cyp26b1	APN	6	84574312	missense	possibly damaging	0.95
IGL02624:Cyp26b1	APN	6	84584339	missense	probably benign	0.00
IGL02676:Cyp26b1	APN	6	84576644	missense	probably damaging	1.00
R0125:Cyp26b1	UTSW	6	84574515	missense	probably damaging	1.00
R0127:Cyp26b1	UTSW	6	84577208	splice site	probably benign
R0268:Cyp26b1	UTSW	6	84574572	missense	probably damaging	1.00
R0575:Cyp26b1	UTSW	6	84575306	splice site	probably benign
R1167:Cyp26b1	UTSW	6	84584330	missense	probably damaging	1.00
R1171:Cyp26b1	UTSW	6	84576671	missense	possibly damaging	0.64
R1512:Cyp26b1	UTSW	6	84576997	missense	probably benign	0.16
R1791:Cyp26b1	UTSW	6	84584459	missense	probably benign	0.05
R1799:Cyp26b1	UTSW	6	84584272	missense	probably benign	0.37
R2065:Cyp26b1	UTSW	6	84576555	missense	probably benign	0.00
R2103:Cyp26b1	UTSW	6	84575050	missense	possibly damaging	0.67
R2900:Cyp26b1	UTSW	6	84576641	missense	possibly damaging	0.70
R4510:Cyp26b1	UTSW	6	84574491	missense	probably damaging	1.00
R4511:Cyp26b1	UTSW	6	84574491	missense	probably damaging	1.00
R4934:Cyp26b1	UTSW	6	84576972	missense	possibly damaging	0.65
R5585:Cyp26b1	UTSW	6	84577189	missense	probably damaging	0.99
R7229:Cyp26b1	UTSW	6	84577150	nonsense	probably null
R7497:Cyp26b1	UTSW	6	84576982	missense	possibly damaging	0.55
R7672:Cyp26b1	UTSW	6	84584369	missense	probably benign	0.04
R8346:Cyp26b1	UTSW	6	84577168	missense	probably benign	0.21
R9020:Cyp26b1	UTSW	6	84575074	missense	probably benign	0.09
R9029:Cyp26b1	UTSW	6	84577053	missense	probably benign	0.20
R9042:Cyp26b1	UTSW	6	84576608	missense	probably benign	0.18
R9068:Cyp26b1	UTSW	6	84574397	missense	probably damaging	0.96
R9536:Cyp26b1	UTSW	6	84577017	missense	probably benign	0.02
R9779:Cyp26b1	UTSW	6	84575131	missense	probably benign
X0063:Cyp26b1	UTSW	6	84575118	missense	probably benign	0.00
Z1176:Cyp26b1	UTSW	6	84577114	missense	probably benign	0.01
Z1177:Cyp26b1	UTSW	6	84577119	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTGACACTGAGGCCATCCACG -3'
(R):5'- TGCAGAGCTGAGTGAAGCCAAC -3'

Sequencing Primer
(F):5'- ATCCACGGGGTGCAAGAC -3'
(R):5'- CTGAGTGAAGCCAACCTGTG -3'

Posted On

2013-05-23