Mutagenetix > Incidental Mutation

Incidental Mutation 'R4511:Cyp26b1'

331162

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

041586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84548396-84570890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84551473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 248 (R248W)

Ref Sequence

ENSEMBL: ENSMUSP00000144836 (fasta)

Gene Model

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

AlphaFold

Q811W2

Predicted Effect

probably damaging
Transcript: ENSMUST00000077705
AA Change: R439W

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

SMART Domains

Protein: ENSMUSP00000076886
Gene: ENSMUSG00000063415
AA Change: R439W

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: R439W

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

SMART Domains

Protein: ENSMUSP00000128391
Gene: ENSMUSG00000063415
AA Change: R439W

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: ENSMUST00000204109
AA Change: R364W

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

SMART Domains

Protein: ENSMUSP00000144998
Gene: ENSMUSG00000063415
AA Change: R364W

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: R439W

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

SMART Domains

Protein: ENSMUSP00000145092
Gene: ENSMUSG00000063415
AA Change: R439W

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: R248W

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

SMART Domains

Protein: ENSMUSP00000144836
Gene: ENSMUSG00000063415
AA Change: R248W

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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. 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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,819 (GRCm39)	D397E	probably benign	Het
Abcc10	A	G	17: 46,618,136 (GRCm39)	F1005L	probably damaging	Het
Ackr4	T	C	9: 103,975,930 (GRCm39)	E339G	probably benign	Het
Adam39	G	T	8: 41,279,328 (GRCm39)	C573F	probably damaging	Het
Anks1b	A	G	10: 90,346,652 (GRCm39)	T651A	probably benign	Het
Aoc1	C	A	6: 48,884,740 (GRCm39)	H594Q	probably damaging	Het
Atp4a	G	T	7: 30,423,678 (GRCm39)	E928*	probably null	Het
Atp5pf	T	C	16: 84,624,862 (GRCm39)	D104G	probably benign	Het
Atp8b5	A	G	4: 43,320,629 (GRCm39)	T206A	probably damaging	Het
Atrn	G	A	2: 130,777,497 (GRCm39)	W182*	probably null	Het
Bltp2	T	C	11: 78,168,154 (GRCm39)	S1530P	possibly damaging	Het
Cacna1e	G	A	1: 154,437,579 (GRCm39)	T257I	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Crebrf	A	G	17: 26,961,938 (GRCm39)	Y345C	probably benign	Het
Dclk3	C	A	9: 111,297,060 (GRCm39)	H201Q	probably benign	Het
Ddx17	A	T	15: 79,422,793 (GRCm39)	V315E	probably damaging	Het
Dhrs11	T	C	11: 84,716,342 (GRCm39)	*51W	probably null	Het
Fgfr4	C	A	13: 55,309,328 (GRCm39)	P455Q	possibly damaging	Het
Gabbr1	A	G	17: 37,380,103 (GRCm39)	K697E	probably damaging	Het
Gcnt1	G	A	19: 17,307,641 (GRCm39)	T28I	probably benign	Het
Gm12185	T	A	11: 48,799,305 (GRCm39)	H396L	possibly damaging	Het
Gm21976	A	G	13: 98,441,839 (GRCm39)	R123G	probably benign	Het
Hecw1	A	C	13: 14,531,776 (GRCm39)	V166G	probably damaging	Het
Hpx	A	G	7: 105,241,295 (GRCm39)	V372A	possibly damaging	Het
Igkv2-109	A	G	6: 68,279,962 (GRCm39)	Y61C	probably damaging	Het
Igsf1	A	G	X: 48,875,050 (GRCm39)	F789S	probably damaging	Het
Il4ra	A	G	7: 125,175,280 (GRCm39)	D496G	possibly damaging	Het
Ilf3	A	G	9: 21,310,511 (GRCm39)	T547A	possibly damaging	Het
Insrr	C	A	3: 87,715,978 (GRCm39)	P558T	possibly damaging	Het
Ints9	A	G	14: 65,266,381 (GRCm39)	D411G	possibly damaging	Het
Irak3	T	A	10: 119,981,813 (GRCm39)	H393L	probably damaging	Het
Isx	G	A	8: 75,600,298 (GRCm39)	M10I	probably benign	Het
Itga11	A	G	9: 62,668,870 (GRCm39)	D709G	probably damaging	Het
Kcng2	G	T	18: 80,338,930 (GRCm39)	R453S	probably benign	Het
Kif5b	A	G	18: 6,214,011 (GRCm39)	V664A	probably benign	Het
Lalba	A	G	15: 98,380,422 (GRCm39)	L44P	probably benign	Het
Ldlrad1	T	G	4: 107,066,715 (GRCm39)	F17V	probably benign	Het
Lnx1	C	T	5: 74,780,853 (GRCm39)	D382N	probably damaging	Het
Lrp1	T	C	10: 127,429,717 (GRCm39)	Y451C	probably damaging	Het
Lrp2	A	T	2: 69,310,406 (GRCm39)	N2722K	possibly damaging	Het
Mctp1	G	A	13: 76,973,391 (GRCm39)	V431I	probably benign	Het
Mmrn2	T	C	14: 34,125,016 (GRCm39)	F866L	possibly damaging	Het
Mylk2	A	G	2: 152,759,330 (GRCm39)	E367G	probably damaging	Het
Nfatc1	A	G	18: 80,678,794 (GRCm39)	S865P	probably damaging	Het
Nol6	G	C	4: 41,123,526 (GRCm39)	T74R	probably damaging	Het
Notch2	T	C	3: 98,053,637 (GRCm39)	M2100T	probably benign	Het
Parp1	A	G	1: 180,418,841 (GRCm39)	K667R	possibly damaging	Het
Phlda3	A	G	1: 135,694,400 (GRCm39)	T72A	probably damaging	Het
Polg	T	C	7: 79,105,270 (GRCm39)	Q758R	probably benign	Het
Polq	G	A	16: 36,868,925 (GRCm39)	R765H	probably damaging	Het
Pramel19	A	T	4: 101,798,757 (GRCm39)	M243L	probably benign	Het
Prkd1	T	C	12: 50,439,762 (GRCm39)	D355G	possibly damaging	Het
Prpf8	T	C	11: 75,382,652 (GRCm39)	Y398H	probably damaging	Het
Ripk1	T	C	13: 34,210,731 (GRCm39)	Y309H	probably damaging	Het
Rngtt	A	T	4: 33,339,032 (GRCm39)	Q279L	possibly damaging	Het
Rusf1	A	T	7: 127,875,312 (GRCm39)	F319Y	probably damaging	Het
Samd4	T	A	14: 47,315,042 (GRCm39)	V114D	probably benign	Het
Sec23ip	G	A	7: 128,380,900 (GRCm39)	E956K	probably damaging	Het
Slc4a1ap	A	T	5: 31,684,747 (GRCm39)	T128S	probably benign	Het
Slc5a11	A	T	7: 122,834,858 (GRCm39)	I6F	probably benign	Het
Slc6a19	A	C	13: 73,832,094 (GRCm39)	L494R	probably damaging	Het
Slc6a21	A	G	7: 44,936,713 (GRCm39)	D189G	probably damaging	Het
Slc7a1	G	T	5: 148,277,372 (GRCm39)	A381D	probably damaging	Het
Smc4	T	A	3: 68,923,980 (GRCm39)		probably null	Het
Stk19	T	C	17: 35,051,504 (GRCm39)	E17G	probably damaging	Het
Tekt5	A	C	16: 10,175,877 (GRCm39)	V556G	probably benign	Het
Tenm4	T	C	7: 96,544,070 (GRCm39)	F2029L	probably benign	Het
Thnsl1	T	C	2: 21,217,236 (GRCm39)	V330A	probably damaging	Het
Tnfrsf21	A	G	17: 43,375,910 (GRCm39)	D432G	probably damaging	Het
Tnip1	T	A	11: 54,817,616 (GRCm39)	S244C	probably benign	Het
Tnrc6c	A	T	11: 117,633,784 (GRCm39)	N1294I	possibly damaging	Het
Trpm3	A	G	19: 22,965,381 (GRCm39)	I1625M	probably benign	Het
Ttn	A	T	2: 76,575,773 (GRCm39)	V25040E	probably damaging	Het
Vwa5a	A	G	9: 38,633,853 (GRCm39)	N19D	possibly damaging	Het
Washc2	A	T	6: 116,197,517 (GRCm39)	D250V	probably damaging	Het
Xpo1	A	G	11: 23,237,401 (GRCm39)	T755A	possibly damaging	Het
Zfp462	C	T	4: 55,008,934 (GRCm39)	T300I	possibly damaging	Het
Zfp937	A	C	2: 150,080,431 (GRCm39)	T154P	probably damaging	Het
Zzef1	A	G	11: 72,778,996 (GRCm39)	D1819G	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
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
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'- GTTGGAGTCCAGACCAAAGAAC -3'
(R):5'- ATTCGGACAGGTAAGTGGACC -3'

Sequencing Primer
(F):5'- GAACTTGACACTGAGGCCATC -3'
(R):5'- GTAAGTGGACCTCTAGGCTCTTAC -3'

Posted On

2015-07-21