Mutagenetix > Incidental Mutation

Incidental Mutation 'R6181:Cyp27b1'

488096

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

044323-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126884119-126888875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 126886279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 320 (D320A)

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 damaging
Transcript: ENSMUST00000165764
AA Change: D320A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724
AA Change: D320A

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,392,313 (GRCm39)	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,525,838 (GRCm39)	H369L	probably benign	Het
Ano7	T	C	1: 93,323,081 (GRCm39)	S474P	probably damaging	Het
Aox3	T	C	1: 58,198,105 (GRCm39)	V639A	probably benign	Het
Arhgef2	T	A	3: 88,542,927 (GRCm39)	V358E	probably damaging	Het
Brpf3	A	G	17: 29,029,555 (GRCm39)	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331 (GRCm39)	T120A	probably damaging	Het
Ccdc121	A	G	5: 31,645,399 (GRCm39)	E384G	probably damaging	Het
Cd200l1	A	G	16: 45,238,260 (GRCm39)	S185P	probably benign	Het
Clasp1	T	G	1: 118,347,547 (GRCm39)	S32A	probably benign	Het
Clca3a2	A	T	3: 144,796,469 (GRCm39)	L246*	probably null	Het
Clcn7	A	G	17: 25,370,702 (GRCm39)	I353V	possibly damaging	Het
Cluap1	T	A	16: 3,751,608 (GRCm39)	D322E	probably benign	Het
Cmtm4	A	C	8: 105,082,997 (GRCm39)		probably null	Het
Cntnap2	C	T	6: 46,736,742 (GRCm39)	P723S	probably damaging	Het
Col6a3	T	A	1: 90,744,096 (GRCm39)	T84S	possibly damaging	Het
Corin	A	G	5: 72,529,439 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,354,687 (GRCm39)	T1903I	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,462,554 (GRCm39)	K652R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,760,251 (GRCm39)	M1638K	probably damaging	Het
Efcab3	T	C	11: 104,722,159 (GRCm39)	S1924P	probably benign	Het
Eya1	T	C	1: 14,373,096 (GRCm39)	S8G	probably damaging	Het
Fam193a	T	A	5: 34,600,884 (GRCm39)		probably null	Het
Fbxw11	T	A	11: 32,692,575 (GRCm39)	N515K	probably benign	Het
Gm6408	T	C	5: 146,420,582 (GRCm39)	V154A	possibly damaging	Het
Guf1	A	G	5: 69,719,059 (GRCm39)	Y235C	probably damaging	Het
Hnrnpul2	C	T	19: 8,800,596 (GRCm39)	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,317,968 (GRCm39)	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,379,174 (GRCm39)	D61V	probably damaging	Het
Lrp5	T	C	19: 3,678,427 (GRCm39)	D476G	probably damaging	Het
Luzp1	A	G	4: 136,270,578 (GRCm39)	T934A	probably benign	Het
Mboat7	A	T	7: 3,686,884 (GRCm39)	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953 (GRCm39)	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,260,398 (GRCm39)	R12G	probably benign	Het
Micall2	T	A	5: 139,702,506 (GRCm39)	T246S	probably benign	Het
Npepps	A	G	11: 97,132,830 (GRCm39)	V299A	probably damaging	Het
Or2y11	T	A	11: 49,443,120 (GRCm39)	V182D	probably damaging	Het
P2ry13	A	G	3: 59,117,328 (GRCm39)	V150A	probably benign	Het
Pdc	T	C	1: 150,209,021 (GRCm39)	I168T	probably damaging	Het
Pde8b	C	T	13: 95,223,316 (GRCm39)	E313K	probably benign	Het
Pgap1	C	T	1: 54,551,936 (GRCm39)	G499R	probably benign	Het
Ppp1r15b	T	A	1: 133,060,261 (GRCm39)	C259*	probably null	Het
Pramel21	T	A	4: 143,342,828 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,141,131 (GRCm39)	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,666,258 (GRCm39)	L271P	probably damaging	Het
Rbm47	T	C	5: 66,183,833 (GRCm39)	T257A	possibly damaging	Het
Rfc3	C	T	5: 151,570,985 (GRCm39)	D104N	probably damaging	Het
Rhobtb3	A	G	13: 76,058,808 (GRCm39)	I330T	probably benign	Het
Rnf207	T	C	4: 152,393,305 (GRCm39)	T570A	probably benign	Het
Rusf1	A	G	7: 127,896,632 (GRCm39)		probably null	Het
Sbpl	T	C	17: 24,172,466 (GRCm39)	H151R	probably damaging	Het
Sstr3	T	C	15: 78,423,661 (GRCm39)	D362G	probably benign	Het
St7	T	C	6: 17,694,363 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,194,235 (GRCm39)	M1145K	probably benign	Het
Tdrd6	A	G	17: 43,939,788 (GRCm39)	V420A	probably damaging	Het
Tet2	C	A	3: 133,193,520 (GRCm39)	E305*	probably null	Het
Tmem209	A	T	6: 30,505,970 (GRCm39)	V68E	probably damaging	Het
Tmod4	A	T	3: 95,035,118 (GRCm39)	I208F	probably damaging	Het
Tpo	G	A	12: 30,181,884 (GRCm39)	L4F	probably benign	Het
Urb1	T	C	16: 90,575,982 (GRCm39)	H858R	probably benign	Het
Utrn	A	G	10: 12,615,200 (GRCm39)	W324R	probably damaging	Het
V1rd19	T	A	7: 23,702,640 (GRCm39)	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,305,692 (GRCm39)	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,371,452 (GRCm39)	Y256F	probably damaging	Het
Vmn2r124	T	C	17: 18,294,019 (GRCm39)	I702T	possibly damaging	Het
Vmn2r96	G	A	17: 18,804,126 (GRCm39)	A459T	probably benign	Het
Vwf	G	T	6: 125,543,109 (GRCm39)	A132S	probably damaging	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp608	A	G	18: 55,028,700 (GRCm39)	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,087,486 (GRCm39)	M438I	probably damaging	Het
Zgrf1	G	A	3: 127,381,590 (GRCm39)	G246S	probably damaging	Het
Zwint	T	C	10: 72,492,431 (GRCm39)	V115A	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
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
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'- TGGGTATCAATACTGCACTGG -3'
(R):5'- GAGCTGTTAGACATGGGGAC -3'

Sequencing Primer
(F):5'- CTGGAGCAGTGAGGCAGC -3'
(R):5'- GGACCAAGGAATTACTAAAGCTAAAC -3'

Posted On

2017-10-10