Mutagenetix > Incidental Mutation

Incidental Mutation 'R2281:Cyp27b1'

243143

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

040280-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2281 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

126884119-126888875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126884163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 5 (V5G)

Ref Sequence

ENSEMBL: ENSMUSP00000127367 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000113030
Gene: ENSMUSG00000006732

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135655

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

possibly damaging
Transcript: ENSMUST00000165764
AA Change: V5G

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724
AA Change: V5G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171868

Predicted Effect

probably damaging
Transcript: ENSMUST00000172069
AA Change: V5G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,352,179 (GRCm39)	L228S	probably damaging	Het
Abca13	A	T	11: 9,278,136 (GRCm39)	K3105N	probably damaging	Het
Abca3	T	A	17: 24,595,700 (GRCm39)	L351Q	possibly damaging	Het
Acadm	A	G	3: 153,638,680 (GRCm39)	I231T	possibly damaging	Het
Adamts4	A	T	1: 171,083,798 (GRCm39)	Q456L	probably damaging	Het
Adgra3	C	T	5: 50,159,222 (GRCm39)	V343I	probably benign	Het
Ajuba	C	A	14: 54,814,645 (GRCm39)	G26V	probably damaging	Het
Aldh1a1	A	G	19: 20,597,455 (GRCm39)	I145M	possibly damaging	Het
Ankrd42	G	A	7: 92,274,981 (GRCm39)	Q110*	probably null	Het
Ano3	T	A	2: 110,513,104 (GRCm39)	E630D	probably benign	Het
Ap3d1	T	C	10: 80,549,832 (GRCm39)	D771G	probably damaging	Het
Arhgap30	A	G	1: 171,216,896 (GRCm39)	D21G	probably damaging	Het
Atg13	T	C	2: 91,509,770 (GRCm39)	N374S	probably benign	Het
Ccdc168	T	A	1: 44,095,620 (GRCm39)	H1826L	possibly damaging	Het
Ccser1	A	T	6: 61,547,799 (GRCm39)	M49L	probably damaging	Het
Cdh5	A	G	8: 104,852,365 (GRCm39)	E160G	probably damaging	Het
Cpd	T	C	11: 76,688,627 (GRCm39)	K882E	probably benign	Het
Crtac1	G	A	19: 42,272,006 (GRCm39)	L646F	unknown	Het
Dcaf11	G	T	14: 55,806,828 (GRCm39)	*550Y	probably null	Het
Dhx58	A	G	11: 100,588,980 (GRCm39)		probably null	Het
Dlg2	T	A	7: 92,087,249 (GRCm39)	I881N	probably damaging	Het
Ece1	C	T	4: 137,673,673 (GRCm39)	T407M	possibly damaging	Het
Ecsit	C	T	9: 21,987,836 (GRCm39)	V68I	possibly damaging	Het
Egln1	T	C	8: 125,675,153 (GRCm39)	D214G	probably benign	Het
Espn	T	C	4: 152,220,002 (GRCm39)	T47A	possibly damaging	Het
F5	A	G	1: 164,023,289 (GRCm39)	I1616V	possibly damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fryl	T	C	5: 73,198,707 (GRCm39)	D2640G	possibly damaging	Het
Gabrg2	T	C	11: 41,867,463 (GRCm39)	K52R	possibly damaging	Het
Ganab	T	C	19: 8,886,832 (GRCm39)	V306A	probably damaging	Het
Glod4	A	T	11: 76,128,635 (GRCm39)	I70N	possibly damaging	Het
Gsn	T	A	2: 35,173,930 (GRCm39)	V2E	probably benign	Het
H1f2	A	G	13: 23,922,907 (GRCm39)	K26E	probably benign	Het
Hrg	C	T	16: 22,780,059 (GRCm39)		probably benign	Het
Kctd19	T	C	8: 106,113,898 (GRCm39)	T592A	probably benign	Het
Kdm3b	A	G	18: 34,941,472 (GRCm39)	D521G	probably damaging	Het
Lrba	A	G	3: 86,683,410 (GRCm39)	H2744R	possibly damaging	Het
Lsr	C	T	7: 30,657,770 (GRCm39)	A397T	probably damaging	Het
Methig1	A	T	15: 100,251,241 (GRCm39)	M51L	possibly damaging	Het
Mga	A	G	2: 119,734,204 (GRCm39)	I351V	probably benign	Het
Mlf1	G	A	3: 67,307,084 (GRCm39)	V250I	possibly damaging	Het
Mreg	A	T	1: 72,231,223 (GRCm39)	N78K	probably damaging	Het
Mtor	A	G	4: 148,574,012 (GRCm39)	D1294G	probably benign	Het
Nfkb1	T	C	3: 135,307,282 (GRCm39)	I548V	probably damaging	Het
Nlrp3	T	C	11: 59,439,962 (GRCm39)	F513S	possibly damaging	Het
Nphp4	A	G	4: 152,641,500 (GRCm39)	K1094E	possibly damaging	Het
Nr3c2	C	A	8: 77,636,536 (GRCm39)	H546N	probably damaging	Het
Nr4a2	T	A	2: 57,002,211 (GRCm39)	M18L	probably benign	Het
Or2y1f	A	C	11: 49,184,459 (GRCm39)	T104P	probably benign	Het
Or4c109	G	A	2: 88,817,814 (GRCm39)	T244I	probably benign	Het
Pclo	A	G	5: 14,590,346 (GRCm39)	N882S	unknown	Het
Pde6a	T	C	18: 61,395,505 (GRCm39)	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,356,311 (GRCm39)	Y209F	probably damaging	Het
Plch2	A	T	4: 155,068,766 (GRCm39)	S1182T	probably damaging	Het
Ptger2	G	T	14: 45,227,107 (GRCm39)	R229L	probably damaging	Het
Ptpru	C	A	4: 131,535,810 (GRCm39)	G389V	probably damaging	Het
Ric8a	A	G	7: 140,441,851 (GRCm39)	N249S	probably benign	Het
Slc26a5	A	G	5: 22,036,508 (GRCm39)	I266T	possibly damaging	Het
Smyd1	T	C	6: 71,215,660 (GRCm39)	N100D	probably damaging	Het
Spmap2l	T	C	5: 77,207,214 (GRCm39)	I324T	probably damaging	Het
Stag3	T	C	5: 138,296,546 (GRCm39)	F468S	probably damaging	Het
Stk31	C	T	6: 49,394,184 (GRCm39)	T182I	probably damaging	Het
Svep1	G	T	4: 58,082,677 (GRCm39)	N1982K	possibly damaging	Het
Tinagl1	A	G	4: 130,060,786 (GRCm39)	Y344H	probably damaging	Het
Tmem216	T	A	19: 10,529,237 (GRCm39)	T104S	probably damaging	Het
Tmem231	T	C	8: 112,645,563 (GRCm39)	D112G	probably damaging	Het
Ube4b	A	G	4: 149,429,029 (GRCm39)	I870T	probably damaging	Het
Vwa8	T	A	14: 79,302,436 (GRCm39)	L1035Q	possibly damaging	Het
Wdr35	A	G	12: 9,028,628 (GRCm39)	Q82R	probably benign	Het
Wnk1	A	T	6: 119,940,601 (GRCm39)		probably null	Het
Zc3h7a	T	C	16: 10,976,458 (GRCm39)		probably benign	Het
Zfp532	T	C	18: 65,757,783 (GRCm39)	V572A	probably 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
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'- TTGTGGGTGCTGAGCTACAC -3'
(R):5'- TGCCATTAAAGCCGGCTCTC -3'

Sequencing Primer
(F):5'- TGCTGAGCTACACAGACCACTTG -3'
(R):5'- TCCTACCAAGGGCAAGGACTG -3'

Posted On

2014-10-16