Mutagenetix > Incidental Mutation

Incidental Mutation 'R7249:Cyp27b1'

563769

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

045312-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126884119-126888875 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to T at 126886918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006915] [ENSMUST00000040307] [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 null
Transcript: ENSMUST00000165764

SMART Domains

Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172069

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,974,970 (GRCm39)	T38A	probably benign	Het
3425401B19Rik	G	T	14: 32,385,271 (GRCm39)	S231R	possibly damaging	Het
Abi1	T	C	2: 22,847,101 (GRCm39)	E250G	possibly damaging	Het
Actl6b	T	A	5: 137,553,347 (GRCm39)	S120T	probably damaging	Het
Adgrv1	G	A	13: 81,522,378 (GRCm39)	H5920Y	probably damaging	Het
Adra2c	G	A	5: 35,438,299 (GRCm39)	R357H	probably damaging	Het
Ap3d1	T	C	10: 80,577,767 (GRCm39)	D20G	probably damaging	Het
Arfgef3	A	T	10: 18,506,583 (GRCm39)	D847E	possibly damaging	Het
Cacna1d	T	C	14: 29,864,660 (GRCm39)	E434G	probably damaging	Het
Carm1	T	C	9: 21,497,505 (GRCm39)	Y356H	probably benign	Het
Clip1	T	C	5: 123,741,663 (GRCm39)	K1075R	probably damaging	Het
D630045J12Rik	A	T	6: 38,113,885 (GRCm39)	V1769D	possibly damaging	Het
Dchs2	C	T	3: 83,035,336 (GRCm39)	Q28*	probably null	Het
Dpp4	A	G	2: 62,215,547 (GRCm39)	F107L	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Faap24	A	G	7: 35,094,485 (GRCm39)	V105A	probably benign	Het
Gabra6	A	T	11: 42,208,259 (GRCm39)	D166E	probably damaging	Het
Gfpt1	A	G	6: 87,033,126 (GRCm39)	E117G	probably damaging	Het
H2-T10	T	C	17: 36,430,269 (GRCm39)	D224G	probably damaging	Het
Hspa12a	T	A	19: 58,793,865 (GRCm39)	E332V	probably benign	Het
Htr5b	T	A	1: 121,438,203 (GRCm39)	N343Y	probably damaging	Het
Irf8	C	A	8: 121,466,571 (GRCm39)	N5K	possibly damaging	Het
Itgb1	C	A	8: 129,446,885 (GRCm39)	Q467K	probably benign	Het
Itpr2	C	A	6: 146,212,550 (GRCm39)	C1522F	probably damaging	Het
Jmjd1c	T	A	10: 67,025,596 (GRCm39)	L138I	probably benign	Het
Lrrc8b	G	T	5: 105,629,133 (GRCm39)	R493L	probably benign	Het
Malrd1	G	T	2: 15,628,151 (GRCm39)	C400F	probably damaging	Het
Marchf8	G	A	6: 116,383,195 (GRCm39)	E257K	probably benign	Het
Mastl	G	A	2: 23,036,151 (GRCm39)	H122Y	probably damaging	Het
Mis18a	T	C	16: 90,523,202 (GRCm39)	K98R	possibly damaging	Het
Msra	A	G	14: 64,678,212 (GRCm39)	V28A	probably benign	Het
Mtmr7	A	G	8: 41,043,520 (GRCm39)	V177A	probably benign	Het
Nelfcd	T	C	2: 174,264,999 (GRCm39)		probably null	Het
Nemp1	T	C	10: 127,529,395 (GRCm39)	S226P	probably damaging	Het
Nmnat1	G	A	4: 149,554,099 (GRCm39)	T147I	probably null	Het
Ntng2	A	G	2: 29,118,004 (GRCm39)	V148A	probably benign	Het
Nup214	A	G	2: 31,878,245 (GRCm39)	H304R	possibly damaging	Het
Or4a2	T	C	2: 89,248,217 (GRCm39)	Y180C	probably damaging	Het
Phldb2	C	A	16: 45,621,977 (GRCm39)	A623S	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkn3	G	A	2: 29,974,773 (GRCm39)	R429Q	probably benign	Het
Plcb4	A	G	2: 135,849,741 (GRCm39)		probably null	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnp	G	A	14: 51,188,887 (GRCm39)	V227I	probably benign	Het
Pskh1	T	C	8: 106,639,886 (GRCm39)	S189P	possibly damaging	Het
Rbpms2	T	G	9: 65,556,632 (GRCm39)	V24G	probably damaging	Het
Robo3	T	A	9: 37,336,129 (GRCm39)	I446L	probably benign	Het
Septin8	A	T	11: 53,425,949 (GRCm39)	K174I	probably damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Slco4a1	A	G	2: 180,106,604 (GRCm39)	Y262C	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,784,512 (GRCm39)	S519G	probably benign	Het
Ssx2ip	A	G	3: 146,132,193 (GRCm39)	N218S	possibly damaging	Het
Svil	T	C	18: 5,056,270 (GRCm39)	V381A	probably benign	Het
Svil	T	C	18: 5,062,247 (GRCm39)	S769P	probably damaging	Het
Tep1	A	T	14: 51,061,732 (GRCm39)	C2595S	possibly damaging	Het
Tiam1	T	C	16: 89,640,143 (GRCm39)	Y858C	probably damaging	Het
Tie1	A	G	4: 118,343,425 (GRCm39)	V146A	probably benign	Het
Traf3ip1	G	T	1: 91,455,361 (GRCm39)	E578D	probably damaging	Het
Trim23	A	G	13: 104,324,663 (GRCm39)	Y247C	probably damaging	Het
Tsc2	A	G	17: 24,826,729 (GRCm39)	W896R	probably damaging	Het
Vmn1r157	T	C	7: 22,461,125 (GRCm39)	S2P	probably benign	Het
Xkr4	T	A	1: 3,287,033 (GRCm39)	T386S	probably damaging	Het
Zdhhc24	T	G	19: 4,928,889 (GRCm39)	V38G	possibly damaging	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
R0483:Cyp27b1	UTSW	10	126,886,026 (GRCm39)	missense	probably benign	0.02
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
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'- TGCCCCTGTTAAAGGCTGTG -3'
(R):5'- CCAGTTTAAAAGTGGGCCTTGG -3'

Sequencing Primer
(F):5'- CCCCTGTTAAAGGCTGTGATCAAAG -3'
(R):5'- CTCTACTACTCCCATTATGCTGG -3'

Posted On

2019-06-26