Mutagenetix > Incidental Mutation

Incidental Mutation 'R0483:Cyp27b1'

42135

Institutional Source

Beutler Lab

Gene Symbol

Cyp27b1

Ensembl Gene

ENSMUSG00000006724

Gene Name

cytochrome P450, family 27, subfamily b, polypeptide 1

Synonyms

1alpha(OH)ase, 25-hydroxyvitamin D3 1alpha-hydroxylase, 25(OH)D 1alpha-hydroxylase, Cyp40, Cp2b, Cyp1, Pddr, Vdd1, Vddr, Cyp27b, P450c1, VddrI, P450VD1alpha

MMRRC Submission

038683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0483 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126884119-126888875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 126886026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 260 (M260L)

Ref Sequence

ENSEMBL: ENSMUSP00000130005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006915] [ENSMUST00000040307] [ENSMUST00000120542] [ENSMUST00000165764] [ENSMUST00000172069]

AlphaFold

O35084

Predicted Effect

probably benign
Transcript: ENSMUST00000006915

SMART Domains

Protein: ENSMUSP00000006915
Gene: ENSMUSG00000006732

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_4	70	248	3.5e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040307

SMART Domains

Protein: ENSMUSP00000041581
Gene: ENSMUSG00000040502

Domain	Start	End	E-Value	Type
low complexity region	20	45	N/A	INTRINSIC
low complexity region	50	60	N/A	INTRINSIC
low complexity region	76	105	N/A	INTRINSIC
RINGv	109	156	7.51e-18	SMART
transmembrane domain	183	205	N/A	INTRINSIC
Blast:AAA	211	238	2e-9	BLAST
low complexity region	267	284	N/A	INTRINSIC
low complexity region	291	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120542

SMART Domains

Protein: ENSMUSP00000113030
Gene: ENSMUSG00000006732

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_4	29	191	3.9e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139486

SMART Domains

Protein: ENSMUSP00000118885
Gene: ENSMUSG00000006732

Domain	Start	End	E-Value	Type
PDB:3CKK\|A	24	85	3e-34	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000165764
AA Change: M260L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724
AA Change: M260L

Domain	Start	End	E-Value	Type
Pfam:p450	40	504	7.1e-97	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171868

Predicted Effect

probably benign
Transcript: ENSMUST00000172069

Meta Mutation Damage Score

0.1470

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (89/90)

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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit hypocalcemia, hyperparathyroidism, retarded growth, enlarged lymph nodes, and rickets. Females have uterine hypoplasia and lack corpora lutea, resulting in infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009L16Rik	G	A	10: 83,595,502 (GRCm39)		probably benign	Het
1700048O20Rik	A	T	9: 121,769,769 (GRCm39)		noncoding transcript	Het
AA986860	A	G	1: 130,671,562 (GRCm39)	R595G	probably damaging	Het
Acrbp	C	A	6: 125,031,759 (GRCm39)	F353L	possibly damaging	Het
Adamts20	T	A	15: 94,251,452 (GRCm39)	Q445L	probably benign	Het
Adgrg5	A	G	8: 95,660,136 (GRCm39)	D26G	possibly damaging	Het
Atad2b	A	T	12: 4,995,035 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,306,631 (GRCm39)	G1439C	probably damaging	Het
Atg2a	G	T	19: 6,306,632 (GRCm39)	G1439V	probably benign	Het
B3galt1	G	A	2: 67,948,932 (GRCm39)	V216I	probably benign	Het
Bmerb1	T	C	16: 13,913,803 (GRCm39)	*113R	probably null	Het
C2cd2	A	G	16: 97,660,788 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,564,025 (GRCm39)	V884M	probably damaging	Het
Cers5	C	A	15: 99,643,795 (GRCm39)	C22F	probably damaging	Het
Ces1d	C	A	8: 93,924,307 (GRCm39)	C14F	probably benign	Het
Cntn3	G	T	6: 102,180,927 (GRCm39)	P756Q	probably damaging	Het
Col4a1	T	C	8: 11,286,423 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,693,777 (GRCm39)		probably null	Het
Cox5b	G	A	1: 36,731,636 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,947,724 (GRCm39)		probably null	Het
Ddx19b	A	T	8: 111,735,310 (GRCm39)	N465K	probably benign	Het
Depdc1b	T	C	13: 108,510,382 (GRCm39)	V298A	probably benign	Het
Dnaaf1	A	G	8: 120,317,405 (GRCm39)	I311M	possibly damaging	Het
Dnah17	T	C	11: 117,937,950 (GRCm39)	N3372S	probably benign	Het
Dus4l	G	A	12: 31,691,656 (GRCm39)	T184I	possibly damaging	Het
Dzip3	T	C	16: 48,768,076 (GRCm39)	K453E	possibly damaging	Het
Fhod3	C	T	18: 24,842,673 (GRCm39)	T3M	probably damaging	Het
Galnt10	T	C	11: 57,672,048 (GRCm39)	L446P	probably damaging	Het
Gfod1	T	A	13: 43,354,012 (GRCm39)	D321V	possibly damaging	Het
Glt8d2	C	A	10: 82,497,987 (GRCm39)		probably benign	Het
Gm11115	A	G	5: 88,301,948 (GRCm39)	M4T	unknown	Het
Gm11568	G	A	11: 99,749,209 (GRCm39)	C138Y	unknown	Het
Gm57859	C	T	11: 113,580,021 (GRCm39)	T472I	possibly damaging	Het
Gm9742	A	G	13: 8,085,052 (GRCm39)		noncoding transcript	Het
Gnrhr	G	T	5: 86,345,434 (GRCm39)	T84N	probably damaging	Het
Gpr176	C	A	2: 118,110,204 (GRCm39)	G352W	probably damaging	Het
Habp2	T	C	19: 56,304,864 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Inpp5j	C	G	11: 3,449,738 (GRCm39)	W681C	probably damaging	Het
Insl6	A	G	19: 29,298,968 (GRCm39)	M148T	probably benign	Het
Itgb1	T	G	8: 129,452,648 (GRCm39)	M771R	possibly damaging	Het
Kank1	G	T	19: 25,403,357 (GRCm39)		probably benign	Het
Kcnd3	T	C	3: 105,366,942 (GRCm39)	Y271H	probably damaging	Het
Kcnq4	C	A	4: 120,573,798 (GRCm39)	R221L	probably damaging	Het
Klk1b26	G	A	7: 43,665,772 (GRCm39)	V195I	probably benign	Het
Lactb	A	C	9: 66,878,145 (GRCm39)	V228G	possibly damaging	Het
Ldb3	T	C	14: 34,258,541 (GRCm39)	D649G	probably damaging	Het
Lilra6	T	A	7: 3,916,138 (GRCm39)	R240S	probably benign	Het
Lrp2	A	G	2: 69,338,145 (GRCm39)	Y1212H	probably damaging	Het
Mapk8ip1	A	T	2: 92,216,321 (GRCm39)		probably null	Het
Mctp1	C	T	13: 76,975,846 (GRCm39)	L483F	probably damaging	Het
Mmp16	T	C	4: 18,115,878 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,445,033 (GRCm39)	L360*	probably null	Het
Myh4	A	G	11: 67,143,123 (GRCm39)	E1017G	probably damaging	Het
Nell1	A	T	7: 49,879,928 (GRCm39)	M307L	probably benign	Het
Or10al3	C	T	17: 38,012,188 (GRCm39)	A209V	probably benign	Het
Or10d1	A	C	9: 39,484,139 (GRCm39)	C139G	probably damaging	Het
Or5m11	A	G	2: 85,781,587 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,752 (GRCm39)	V140A	probably benign	Het
Phc2	A	G	4: 128,617,100 (GRCm39)		probably benign	Het
Pp2d1	C	A	17: 53,814,999 (GRCm39)	C575F	probably benign	Het
Ptpra	T	A	2: 130,381,605 (GRCm39)	N364K	probably damaging	Het
R3hcc1l	A	G	19: 42,550,995 (GRCm39)		probably benign	Het
Rims1	A	G	1: 22,507,263 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,427,442 (GRCm39)		probably benign	Het
Sit1	T	A	4: 43,482,991 (GRCm39)	Q86L	possibly damaging	Het
Skint4	C	A	4: 111,975,136 (GRCm39)		probably benign	Het
Skint8	G	T	4: 111,796,020 (GRCm39)		probably benign	Het
Smim13	T	C	13: 41,426,186 (GRCm39)	I74T	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Spmap2l	A	G	5: 77,185,204 (GRCm39)		probably benign	Het
Srpra	A	G	9: 35,127,291 (GRCm39)	T614A	possibly damaging	Het
Synpo2	T	C	3: 122,907,981 (GRCm39)	D445G	probably damaging	Het
Tas2r102	A	T	6: 132,739,328 (GRCm39)	I79F	probably damaging	Het
Tmc4	A	G	7: 3,670,609 (GRCm39)	L494P	probably damaging	Het
Togaram1	G	T	12: 65,053,805 (GRCm39)	V1412F	probably damaging	Het
Topors	T	C	4: 40,261,952 (GRCm39)	D444G	probably damaging	Het
Trappc8	T	A	18: 20,978,658 (GRCm39)	I813F	possibly damaging	Het
Trim26	T	C	17: 37,163,598 (GRCm39)		probably benign	Het
Unc13a	T	C	8: 72,097,557 (GRCm39)	D1171G	probably damaging	Het
Usp7	A	G	16: 8,517,126 (GRCm39)	V245A	probably damaging	Het
Vmn1r38	T	A	6: 66,753,979 (GRCm39)	T46S	probably benign	Het
Vmn2r76	T	C	7: 85,874,959 (GRCm39)	T673A	probably damaging	Het
Zcchc14	T	A	8: 122,355,388 (GRCm39)		probably benign	Het
Zfp451	T	A	1: 33,809,991 (GRCm39)		probably benign	Het

Other mutations in Cyp27b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Cyp27b1	APN	10	126,885,551 (GRCm39)	missense	probably benign	0.19
IGL01147:Cyp27b1	APN	10	126,886,255 (GRCm39)	missense	possibly damaging	0.94
IGL02370:Cyp27b1	APN	10	126,886,543 (GRCm39)	splice site	probably benign
IGL02670:Cyp27b1	APN	10	126,886,227 (GRCm39)	missense	probably benign	0.01
IGL02671:Cyp27b1	APN	10	126,886,912 (GRCm39)	splice site	probably null
R0517:Cyp27b1	UTSW	10	126,885,985 (GRCm39)	splice site	probably null
R0645:Cyp27b1	UTSW	10	126,884,967 (GRCm39)	missense	probably benign	0.02
R1479:Cyp27b1	UTSW	10	126,887,580 (GRCm39)	critical splice donor site	probably null
R1491:Cyp27b1	UTSW	10	126,886,957 (GRCm39)	missense	probably damaging	0.98
R1830:Cyp27b1	UTSW	10	126,884,952 (GRCm39)	missense	possibly damaging	0.92
R1929:Cyp27b1	UTSW	10	126,884,181 (GRCm39)	missense	probably damaging	1.00
R2162:Cyp27b1	UTSW	10	126,886,929 (GRCm39)	missense	probably damaging	1.00
R2281:Cyp27b1	UTSW	10	126,884,163 (GRCm39)	missense	probably damaging	0.99
R2291:Cyp27b1	UTSW	10	126,884,163 (GRCm39)	missense	possibly damaging	0.80
R3831:Cyp27b1	UTSW	10	126,886,929 (GRCm39)	missense	probably damaging	1.00
R3832:Cyp27b1	UTSW	10	126,886,929 (GRCm39)	missense	probably damaging	1.00
R3833:Cyp27b1	UTSW	10	126,886,929 (GRCm39)	missense	probably damaging	1.00
R4306:Cyp27b1	UTSW	10	126,886,957 (GRCm39)	missense	probably benign	0.21
R5213:Cyp27b1	UTSW	10	126,887,964 (GRCm39)	missense	probably damaging	1.00
R5405:Cyp27b1	UTSW	10	126,886,255 (GRCm39)	missense	possibly damaging	0.94
R5463:Cyp27b1	UTSW	10	126,887,966 (GRCm39)	missense	possibly damaging	0.89
R5906:Cyp27b1	UTSW	10	126,884,267 (GRCm39)	missense	probably damaging	1.00
R6181:Cyp27b1	UTSW	10	126,886,279 (GRCm39)	missense	probably damaging	1.00
R6515:Cyp27b1	UTSW	10	126,884,119 (GRCm39)	start gained	probably benign
R7249:Cyp27b1	UTSW	10	126,886,918 (GRCm39)	critical splice acceptor site	probably null
R8075:Cyp27b1	UTSW	10	126,887,382 (GRCm39)	missense	probably damaging	1.00
R9425:Cyp27b1	UTSW	10	126,886,006 (GRCm39)	missense	probably damaging	1.00
R9686:Cyp27b1	UTSW	10	126,886,185 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCTATGCTGGAACTCTGGACAAC -3'
(R):5'- TGGACTGGACAGACACCTTTTCCC -3'

Sequencing Primer
(F):5'- TGACCTTGTGCGACGACTAAG -3'
(R):5'- CCTTTTCCCGAAAAAGGAAGTG -3'

Posted On

2013-05-23