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

retinoic acid B1, CP26, P450RAI-2

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

84548396-84570890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84551538 bp (GRCm39)

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
4933430I17Rik	A	T	4: 62,464,304 (GRCm39)	R374*	probably null	Het
5930422O12Rik	A	T	8: 33,919,407 (GRCm39)	R76*	probably null	Het
A1cf	G	A	19: 31,923,214 (GRCm39)	A505T	probably benign	Het
Abcc5	T	A	16: 20,241,150 (GRCm39)	I12F	probably damaging	Het
Abcf2	T	C	5: 24,771,562 (GRCm39)	E555G	probably damaging	Het
Acan	A	T	7: 78,750,033 (GRCm39)	E1601D	probably damaging	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam2	T	A	14: 66,275,055 (GRCm39)	K559N	probably benign	Het
Akap11	A	C	14: 78,747,529 (GRCm39)	D1619E	possibly damaging	Het
Ankrd11	T	C	8: 123,622,307 (GRCm39)	D515G	probably benign	Het
Ankrd27	T	A	7: 35,318,796 (GRCm39)	N562K	probably damaging	Het
Atp10b	T	C	11: 43,044,131 (GRCm39)	I119T	probably benign	Het
Atr	T	C	9: 95,819,619 (GRCm39)	I2202T	probably benign	Het
Bltp2	C	T	11: 78,162,750 (GRCm39)	L871F	possibly damaging	Het
Brd4	T	A	17: 32,432,514 (GRCm39)		probably benign	Het
Catsperg2	C	T	7: 29,405,996 (GRCm39)	C634Y	possibly damaging	Het
Cep192	A	G	18: 67,961,553 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,966,230 (GRCm39)	I366F	probably damaging	Het
Cnga4	G	T	7: 105,056,875 (GRCm39)	R326L	probably damaging	Het
Cntnap5b	T	A	1: 99,999,878 (GRCm39)	M212K	probably benign	Het
Col6a6	T	A	9: 105,661,315 (GRCm39)	M265L	probably benign	Het
Cspg4b	A	T	13: 113,505,677 (GRCm39)	I727F	probably damaging	Het
Dhx15	A	T	5: 52,308,088 (GRCm39)	M768K	probably benign	Het
Drc7	G	A	8: 95,797,881 (GRCm39)	R433H	possibly damaging	Het
Duox2	C	T	2: 122,122,785 (GRCm39)	V550M	probably benign	Het
Elmo2	A	G	2: 165,138,810 (GRCm39)	L456P	probably damaging	Het
Fbxo39	T	C	11: 72,208,356 (GRCm39)	I236T	probably benign	Het
Fezf2	A	G	14: 12,343,977 (GRCm38)	C305R	probably damaging	Het
Fndc3b	C	A	3: 27,511,155 (GRCm39)	C785F	probably benign	Het
Gm12253	T	C	11: 58,330,838 (GRCm39)		probably benign	Het
Gnat2	T	A	3: 108,002,878 (GRCm39)	Y95*	probably null	Het
Gopc	T	C	10: 52,226,774 (GRCm39)	K220E	probably damaging	Het
Hectd4	G	A	5: 121,392,314 (GRCm39)	D193N	possibly damaging	Het
Hexa	G	A	9: 59,461,509 (GRCm39)		probably null	Het
Hspa4l	T	C	3: 40,739,840 (GRCm39)		probably benign	Het
Hspa5	T	C	2: 34,664,332 (GRCm39)	S301P	probably damaging	Het
Ice1	A	T	13: 70,752,166 (GRCm39)	S1307T	possibly damaging	Het
Igtp	T	C	11: 58,096,880 (GRCm39)	L17P	probably damaging	Het
Itk	T	C	11: 46,244,743 (GRCm39)	Y225C	probably damaging	Het
Kifc3	A	G	8: 95,830,088 (GRCm39)	V560A	probably damaging	Het
Lama1	A	G	17: 68,124,564 (GRCm39)	N2875D	probably damaging	Het
Lasp1	C	A	11: 97,697,677 (GRCm39)	C32*	probably null	Het
Lcp2	T	A	11: 34,019,854 (GRCm39)		probably benign	Het
Lhx9	C	T	1: 138,760,642 (GRCm39)	G236D	probably benign	Het
Lrrc38	A	T	4: 143,076,979 (GRCm39)	I81F	probably damaging	Het
Ly6a	C	T	15: 74,867,236 (GRCm39)	V94M	probably benign	Het
Map3k13	A	G	16: 21,732,907 (GRCm39)	E503G	probably damaging	Het
Mertk	T	C	2: 128,624,541 (GRCm39)		probably benign	Het
Mrtfb	T	A	16: 13,230,027 (GRCm39)	I915N	probably damaging	Het
Msantd2	G	A	9: 37,434,515 (GRCm39)	D252N	possibly damaging	Het
Mtmr12	T	A	15: 12,257,792 (GRCm39)	L290*	probably null	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Naglu	T	A	11: 100,964,853 (GRCm39)	N313K	probably damaging	Het
Nceh1	T	C	3: 27,276,953 (GRCm39)	V92A	possibly damaging	Het
Ncf4	A	G	15: 78,135,083 (GRCm39)	T47A	probably damaging	Het
Nrp1	T	A	8: 129,187,164 (GRCm39)	F403L	probably damaging	Het
Nxph3	T	C	11: 95,402,082 (GRCm39)	T111A	possibly damaging	Het
Obscn	T	A	11: 58,929,441 (GRCm39)	E6061V	probably damaging	Het
Obsl1	C	A	1: 75,469,571 (GRCm39)	G1149W	probably damaging	Het
Or14c39	A	G	7: 86,344,068 (GRCm39)	T135A	probably benign	Het
Or2k2	A	T	4: 58,784,981 (GRCm39)	V247E	probably damaging	Het
Or2p2	T	A	13: 21,256,544 (GRCm39)	Y309F	probably benign	Het
Or5b123	A	G	19: 13,596,849 (GRCm39)	T65A	probably benign	Het
Or5d14	C	T	2: 87,880,756 (GRCm39)	V71I	possibly damaging	Het
Or5p68	A	C	7: 107,946,121 (GRCm39)	D22E	probably benign	Het
Or6c70	T	A	10: 129,710,415 (GRCm39)	L70F	possibly damaging	Het
Pde9a	T	C	17: 31,674,080 (GRCm39)	V55A	probably damaging	Het
Pip4k2c	A	T	10: 127,041,690 (GRCm39)		probably null	Het
Plvap	T	C	8: 71,964,026 (GRCm39)	N112S	probably damaging	Het
Pop1	T	A	15: 34,530,004 (GRCm39)		probably null	Het
Ppip5k2	T	C	1: 97,644,278 (GRCm39)	H1113R	possibly damaging	Het
Ptprk	A	T	10: 28,449,388 (GRCm39)	I962F	probably damaging	Het
Rad51ap2	T	C	12: 11,507,043 (GRCm39)	S322P	possibly damaging	Het
Rasal1	A	G	5: 120,812,670 (GRCm39)	T565A	probably benign	Het
Rbm15	C	A	3: 107,238,471 (GRCm39)	R642S	probably damaging	Het
Rpsa	G	A	9: 119,960,069 (GRCm39)	E211K	possibly damaging	Het
Ryr3	A	G	2: 112,517,155 (GRCm39)	S3303P	probably damaging	Het
Scg2	T	A	1: 79,413,229 (GRCm39)	N458I	possibly damaging	Het
Setx	A	G	2: 29,069,655 (GRCm39)	T2487A	probably benign	Het
Slc4a5	G	A	6: 83,244,549 (GRCm39)		probably benign	Het
Slc8a2	T	A	7: 15,874,914 (GRCm39)	D387E	probably benign	Het
Smarcc2	A	G	10: 128,310,591 (GRCm39)	T407A	probably benign	Het
Snap25	A	G	2: 136,619,384 (GRCm39)	D179G	probably damaging	Het
Socs4	T	C	14: 47,527,325 (GRCm39)	S74P	probably benign	Het
Sp6	T	A	11: 96,912,751 (GRCm39)	Y155N	probably benign	Het
Srrt	C	T	5: 137,294,389 (GRCm39)		probably benign	Het
Steap1	C	T	5: 5,786,431 (GRCm39)	M335I	probably benign	Het
Stra6	A	T	9: 58,052,772 (GRCm39)	Y250F	probably benign	Het
Svil	T	C	18: 5,094,582 (GRCm39)	S1421P	probably damaging	Het
Tcea3	G	A	4: 135,998,677 (GRCm39)	C317Y	probably damaging	Het
Tmco6	T	C	18: 36,870,757 (GRCm39)	L117S	probably damaging	Het
Trp53bp1	T	C	2: 121,100,718 (GRCm39)	K89E	probably damaging	Het
Trp63	T	A	16: 25,583,052 (GRCm39)		probably benign	Het
Ube2d2a	A	G	18: 35,933,185 (GRCm39)	Y74C	probably damaging	Het
Usp19	T	G	9: 108,375,708 (GRCm39)	F885V	probably damaging	Het
Utp18	T	A	11: 93,773,003 (GRCm39)		probably benign	Het
Vmn2r116	T	C	17: 23,620,387 (GRCm39)	I707T	possibly damaging	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Zfp318	C	T	17: 46,723,540 (GRCm39)	P1848S	probably benign	Het
Zfp984	G	T	4: 147,839,722 (GRCm39)	N376K	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
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
R1512:Cyp26b1	UTSW	6	84,553,979 (GRCm39)	missense	probably benign	0.16
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'- AACTTGACACTGAGGCCATCCACG -3'
(R):5'- TGCAGAGCTGAGTGAAGCCAAC -3'

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

Posted On

2013-05-23