Mutagenetix > Incidental Mutation

Incidental Mutation 'R7497:Cyp26b1'

581129

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

045570-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84548396-84570890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84553964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 218 (V218L)

Ref Sequence

ENSEMBL: ENSMUSP00000076886 (fasta)

Gene Model

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

AlphaFold

Q811W2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077705
AA Change: V218L

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076886
Gene: ENSMUSG00000063415
AA Change: V218L

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: ENSMUST00000168003
AA Change: V218L

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128391
Gene: ENSMUSG00000063415
AA Change: V218L

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: V143L

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144998
Gene: ENSMUSG00000063415
AA Change: V143L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204146
AA Change: V218L

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145092
Gene: ENSMUSG00000063415
AA Change: V218L

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: ENSMUST00000205228
AA Change: V27L

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144836
Gene: ENSMUSG00000063415
AA Change: V27L

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

Meta Mutation Damage Score

0.1087

Coding Region Coverage

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

Validation Efficiency

100% (70/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,075,379 (GRCm39)	I145F	probably benign	Het
Acvr2b	T	A	9: 119,262,352 (GRCm39)	V455E	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Agap2	T	C	10: 126,926,834 (GRCm39)	V977A	probably damaging	Het
Aph1b	A	C	9: 66,701,401 (GRCm39)	S79A	probably damaging	Het
Atm	G	A	9: 53,423,191 (GRCm39)	S645L	probably benign	Het
Cdh11	T	C	8: 103,400,456 (GRCm39)	R171G	probably benign	Het
Ces2f	T	A	8: 105,681,330 (GRCm39)	D556E	probably benign	Het
Cfap210	A	C	2: 69,588,792 (GRCm39)	N439K	probably benign	Het
Diaph1	T	C	18: 38,028,353 (GRCm39)		probably null	Het
Dock1	A	G	7: 134,367,003 (GRCm39)	I482V	probably benign	Het
Dok4	A	T	8: 95,594,053 (GRCm39)	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,036,028 (GRCm39)	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,066,558 (GRCm39)	V157E	probably damaging	Het
Efcab3	T	C	11: 104,653,516 (GRCm39)		probably null	Het
Eif2a	C	A	3: 58,456,102 (GRCm39)	P367Q	probably damaging	Het
Elp2	C	T	18: 24,744,985 (GRCm39)	R102C	probably damaging	Het
Erich2	T	C	2: 70,364,666 (GRCm39)	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flacc1	T	A	1: 58,717,467 (GRCm39)	D148V	probably damaging	Het
Gadl1	A	T	9: 115,903,155 (GRCm39)	I495L	probably benign	Het
Gcnt4	A	G	13: 97,083,468 (GRCm39)	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,550,887 (GRCm39)	K21E	unknown	Het
Gm57859	T	A	11: 113,583,223 (GRCm39)	W517R	probably damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Gp2	C	T	7: 119,053,829 (GRCm39)	C44Y	probably damaging	Het
Hcar2	C	T	5: 124,003,249 (GRCm39)	V85I	probably benign	Het
Hira	T	C	16: 18,770,829 (GRCm39)	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,477,156 (GRCm39)	T49S	probably damaging	Het
Ints1	C	T	5: 139,754,731 (GRCm39)	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,374,404 (GRCm39)	L909R	probably damaging	Het
Klkb1	T	A	8: 45,747,827 (GRCm39)		probably benign	Het
Krit1	A	G	5: 3,862,349 (GRCm39)	H168R	possibly damaging	Het
Map3k21	A	T	8: 126,654,340 (GRCm39)	E386D	probably damaging	Het
Muc16	C	T	9: 18,556,385 (GRCm39)	E3303K	unknown	Het
Muc5b	T	G	7: 141,415,250 (GRCm39)	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,104,983 (GRCm39)	L189P		Het
Nlrc5	T	C	8: 95,248,598 (GRCm39)	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,071,257 (GRCm39)	K402R	probably benign	Het
Or4b1b	T	A	2: 90,112,098 (GRCm39)	T274S	possibly damaging	Het
Or4k15	T	A	14: 50,364,952 (GRCm39)	L306Q	probably benign	Het
Or52s19	T	C	7: 103,008,219 (GRCm39)	M61V	probably damaging	Het
Or8u8	T	C	2: 86,012,417 (GRCm39)	I13V	probably benign	Het
Pnma8b	A	G	7: 16,678,874 (GRCm39)		probably benign	Het
Pnpt1	A	T	11: 29,080,860 (GRCm39)	M35L	probably benign	Het
Postn	A	G	3: 54,270,091 (GRCm39)	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775 (GRCm39)	D110A	probably damaging	Het
Pptc7	G	A	5: 122,422,942 (GRCm39)	V71M	possibly damaging	Het
Prdm11	T	A	2: 92,843,052 (GRCm39)	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,436,841 (GRCm39)	L613P	probably damaging	Het
Ryr3	T	C	2: 112,560,818 (GRCm39)	D2981G	probably benign	Het
Sbf2	C	A	7: 110,213,923 (GRCm39)	E16*	probably null	Het
Scara3	T	C	14: 66,168,651 (GRCm39)	E322G	probably damaging	Het
Sema5b	T	A	16: 35,481,700 (GRCm39)	C893S	probably damaging	Het
Setdb1	T	C	3: 95,249,139 (GRCm39)	D323G	probably damaging	Het
Slc19a3	T	C	1: 82,991,649 (GRCm39)	Y453C	probably damaging	Het
Snx5	T	C	2: 144,099,894 (GRCm39)	K137E	probably damaging	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Taok2	G	A	7: 126,474,050 (GRCm39)	T352I	probably damaging	Het
Ttc3	C	A	16: 94,219,541 (GRCm39)	R489S	possibly damaging	Het
Usp12	A	T	5: 146,689,264 (GRCm39)		probably null	Het
Usp16	T	A	16: 87,263,174 (GRCm39)	C125*	probably null	Het
Vmn2r106	C	T	17: 20,488,201 (GRCm39)	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,843 (GRCm39)	I2832K	probably benign	Het
Vps13c	A	G	9: 67,747,761 (GRCm39)	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,246,455 (GRCm39)	I335K	probably benign	Het
Zfp788	A	T	7: 41,298,275 (GRCm39)	I304F	possibly damaging	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
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
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'- TTGTCTTGAAGGCAGGGCTC -3'
(R):5'- CCAAGATCCAACTGGTGATCC -3'

Sequencing Primer
(F):5'- CTTGAAGGCAGGGCTCACTCTAAG -3'
(R):5'- GTGATCCAGGATACACTTCGAGC -3'

Posted On

2019-10-17