Mutagenetix > Incidental Mutation

Incidental Mutation 'R0518:Cyp2r1'

48300

Institutional Source

Beutler Lab

Gene Symbol

Cyp2r1

Ensembl Gene

ENSMUSG00000030670

Gene Name

cytochrome P450, family 2, subfamily r, polypeptide 1

Synonyms

MMRRC Submission

038711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0518 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

114149358-114162283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 114152135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 274 (H274P)

Ref Sequence

ENSEMBL: ENSMUSP00000032908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032908] [ENSMUST00000119712] [ENSMUST00000128587] [ENSMUST00000138712] [ENSMUST00000147428] [ENSMUST00000211506]

AlphaFold

Q6VVW9

Predicted Effect

probably benign
Transcript: ENSMUST00000032908
AA Change: H274P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000032908
Gene: ENSMUSG00000030670
AA Change: H274P

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:p450	40	498	7e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119712

SMART Domains

Protein: ENSMUSP00000112818
Gene: ENSMUSG00000030670

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:p450	40	124	2.3e-15	PFAM
Pfam:p450	115	287	1.8e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128587
AA Change: H199P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121924
Gene: ENSMUSG00000030670
AA Change: H199P

Domain	Start	End	E-Value	Type
Pfam:p450	1	260	5.7e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133484

Predicted Effect

probably benign
Transcript: ENSMUST00000138712

SMART Domains

Protein: ENSMUSP00000123556
Gene: ENSMUSG00000030670

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
SCOP:d1dt6a_	40	76	5e-7	SMART
PDB:3CZH\|B	51	76	3e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000147428

SMART Domains

Protein: ENSMUSP00000119605
Gene: ENSMUSG00000030670

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
SCOP:d1dt6a_	40	76	5e-7	SMART
PDB:3CZH\|B	51	76	3e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000211506
AA Change: H65P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit more than a 50% reduction in serum 25-hydroxyvitamin D3 levels but remain healthy and show normal serum 1alpha,25-dihydroxyvitamin D3 levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,181,112 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acsm5	T	C	7: 119,135,023 (GRCm39)	V327A	possibly damaging	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Akr1c14	T	C	13: 4,131,016 (GRCm39)	L236S	probably damaging	Het
Ammecr1l	C	T	18: 31,904,954 (GRCm39)	S65L	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Arhgef16	G	T	4: 154,375,491 (GRCm39)	P168T	probably damaging	Het
Asic1	C	T	15: 99,596,700 (GRCm39)	R499C	probably damaging	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Cacna1s	C	A	1: 136,004,597 (GRCm39)	D132E	probably benign	Het
Capn5	C	T	7: 97,782,089 (GRCm39)	R217Q	probably damaging	Het
Clasrp	A	G	7: 19,322,528 (GRCm39)	I284T	probably benign	Het
Coa3	T	A	11: 101,169,716 (GRCm39)	K13M	probably damaging	Het
Col13a1	A	T	10: 61,698,525 (GRCm39)	M512K	unknown	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Cryba2	T	C	1: 74,929,284 (GRCm39)	Y153C	possibly damaging	Het
Cryzl2	T	C	1: 157,292,000 (GRCm39)	V93A	probably damaging	Het
Ctsl	G	A	13: 64,513,032 (GRCm39)	L297F	possibly damaging	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Dnai4	A	C	4: 102,921,727 (GRCm39)	Y464*	probably null	Het
Dnd1	A	G	18: 36,897,096 (GRCm39)	V350A	possibly damaging	Het
Dsg1b	A	T	18: 20,521,221 (GRCm39)	Q26L	probably benign	Het
Fam20b	C	A	1: 156,515,026 (GRCm39)	V280F	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Hsd3b7	A	G	7: 127,402,251 (GRCm39)	T330A	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Kti12	T	A	4: 108,705,776 (GRCm39)	V230E	possibly damaging	Het
Lhfpl7	T	A	5: 113,383,873 (GRCm39)	L97*	probably null	Het
Mgat5	T	A	1: 127,312,584 (GRCm39)	I241N	probably damaging	Het
Mkln1	A	G	6: 31,445,067 (GRCm39)	N321S	probably benign	Het
Mllt10	T	G	2: 18,076,017 (GRCm39)		probably null	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nipsnap3b	T	A	4: 53,021,343 (GRCm39)	F243I	probably damaging	Het
Ogfod1	T	A	8: 94,781,876 (GRCm39)		probably null	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
P2ry14	T	A	3: 59,022,625 (GRCm39)	E287D	probably damaging	Het
Pank4	A	T	4: 155,061,082 (GRCm39)	R510S	possibly damaging	Het
Pcsk6	T	A	7: 65,629,915 (GRCm39)	V347E	possibly damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pik3c2b	C	A	1: 133,033,730 (GRCm39)	P1578H	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Ppp1r26	A	G	2: 28,342,314 (GRCm39)	D648G	probably damaging	Het
Ptprs	A	G	17: 56,726,621 (GRCm39)		probably null	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Rigi	C	T	4: 40,216,354 (GRCm39)		probably null	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Ski	A	G	4: 155,243,743 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Slc25a36	A	T	9: 96,979,228 (GRCm39)	I71N	probably damaging	Het
Syne2	A	C	12: 76,155,636 (GRCm39)		probably null	Het
Tdrd5	C	A	1: 156,090,511 (GRCm39)	W845L	probably damaging	Het
Tfb2m	T	C	1: 179,365,389 (GRCm39)	I192V	possibly damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Trank1	A	C	9: 111,162,876 (GRCm39)	D45A	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Trim9	A	T	12: 70,393,359 (GRCm39)	L195Q	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn1r4	G	T	6: 56,933,883 (GRCm39)	C129F	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Cyp2r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Cyp2r1	APN	7	114,151,061 (GRCm39)	missense	probably benign	0.00
IGL01515:Cyp2r1	APN	7	114,151,947 (GRCm39)	splice site	probably benign
R0178:Cyp2r1	UTSW	7	114,149,643 (GRCm39)	missense	probably damaging	1.00
R0686:Cyp2r1	UTSW	7	114,151,246 (GRCm39)	missense	possibly damaging	0.52
R1772:Cyp2r1	UTSW	7	114,152,451 (GRCm39)	missense	probably damaging	0.99
R2044:Cyp2r1	UTSW	7	114,149,640 (GRCm39)	missense	probably damaging	0.98
R3785:Cyp2r1	UTSW	7	114,153,931 (GRCm39)	missense	possibly damaging	0.69
R6248:Cyp2r1	UTSW	7	114,161,966 (GRCm39)	critical splice donor site	probably null
R6995:Cyp2r1	UTSW	7	114,152,316 (GRCm39)	missense	probably damaging	1.00
R7048:Cyp2r1	UTSW	7	114,151,971 (GRCm39)	missense	probably damaging	1.00
R7063:Cyp2r1	UTSW	7	114,152,184 (GRCm39)	missense	probably damaging	1.00
R7538:Cyp2r1	UTSW	7	114,162,002 (GRCm39)	missense	probably damaging	1.00
R7549:Cyp2r1	UTSW	7	114,153,879 (GRCm39)	missense	possibly damaging	0.58
R7680:Cyp2r1	UTSW	7	114,152,054 (GRCm39)	missense	probably damaging	1.00
R7882:Cyp2r1	UTSW	7	114,153,824 (GRCm39)	critical splice donor site	probably null
R8054:Cyp2r1	UTSW	7	114,151,319 (GRCm39)	critical splice acceptor site	probably null
R8116:Cyp2r1	UTSW	7	114,149,590 (GRCm39)	missense	probably benign
R8326:Cyp2r1	UTSW	7	114,152,405 (GRCm39)	missense	probably damaging	1.00
R9202:Cyp2r1	UTSW	7	114,152,047 (GRCm39)	critical splice acceptor site	probably benign
R9481:Cyp2r1	UTSW	7	114,152,369 (GRCm39)	missense	probably damaging	1.00
R9799:Cyp2r1	UTSW	7	114,151,207 (GRCm39)	missense	probably benign	0.16
Z1088:Cyp2r1	UTSW	7	114,151,209 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp2r1	UTSW	7	114,152,574 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGAATTGCCCAGCGGAGCAC -3'
(R):5'- TGGACCTTTTGACCTCAAGCAACTG -3'

Sequencing Primer
(F):5'- AGCGGAGCACATTGGTTG -3'
(R):5'- TGAAGACACTGATTTTCAGCAC -3'

Posted On

2013-06-12