Mutagenetix > Incidental Mutation

Incidental Mutation 'R8054:Cyp2r1'

619259

Institutional Source

Beutler Lab

Gene Symbol

Cyp2r1

Ensembl Gene

ENSMUSG00000030670

Gene Name

cytochrome P450, family 2, subfamily r, polypeptide 1

Synonyms

MMRRC Submission

067491-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114149358-114162283 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 114151319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032908 (fasta)

Gene Model

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

AlphaFold

Q6VVW9

Predicted Effect

probably null
Transcript: ENSMUST00000032908

SMART Domains

Protein: ENSMUSP00000032908
Gene: ENSMUSG00000030670

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

SMART Domains

Protein: ENSMUSP00000121924
Gene: ENSMUSG00000030670

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

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

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,874,272 (GRCm39)	N399S	probably benign	Het
Akap9	T	C	5: 4,088,707 (GRCm39)		probably null	Het
Ankrd17	A	G	5: 90,438,914 (GRCm39)	I483T	probably benign	Het
Arl13b	T	C	16: 62,626,960 (GRCm39)	D247G	probably benign	Het
Brca2	A	G	5: 150,459,969 (GRCm39)	I415V	probably benign	Het
Brpf3	C	A	17: 29,055,571 (GRCm39)	S1173R	probably damaging	Het
Cby2	A	G	14: 75,821,339 (GRCm39)	Y129H	probably benign	Het
Ccar1	A	G	10: 62,583,215 (GRCm39)	L966P	unknown	Het
Cfap61	A	G	2: 145,815,438 (GRCm39)	N249S	probably damaging	Het
Clip4	T	A	17: 72,141,268 (GRCm39)	Y541N	possibly damaging	Het
Csn2	C	T	5: 87,845,886 (GRCm39)		probably null	Het
Cyp2c23	T	G	19: 43,995,555 (GRCm39)	E404A	probably damaging	Het
Cyp2e1	A	G	7: 140,350,871 (GRCm39)	E281G	possibly damaging	Het
D430041D05Rik	T	A	2: 103,985,390 (GRCm39)	I1226F	possibly damaging	Het
Dbx1	A	T	7: 49,282,498 (GRCm39)	W236R	probably damaging	Het
Dcp2	T	G	18: 44,538,774 (GRCm39)	N251K	probably benign	Het
Disp1	A	T	1: 182,869,812 (GRCm39)	Y869*	probably null	Het
Dnajc8	T	A	4: 132,272,068 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,621,226 (GRCm39)	N822D	probably benign	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Eml3	A	T	19: 8,916,414 (GRCm39)	T670S	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	A	T	2: 125,187,938 (GRCm39)	D1530E	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hsd3b3	A	T	3: 98,649,331 (GRCm39)	Y331N	probably damaging	Het
Ino80d	T	C	1: 63,097,837 (GRCm39)	R791G	possibly damaging	Het
Itprid1	A	T	6: 55,953,424 (GRCm39)	K913N	probably damaging	Het
Jade2	T	C	11: 51,709,441 (GRCm39)	R523G	probably benign	Het
Kmt2d	A	T	15: 98,741,806 (GRCm39)	D4451E	unknown	Het
Lax1	T	C	1: 133,611,345 (GRCm39)	T76A	probably benign	Het
Map4k1	A	G	7: 28,689,181 (GRCm39)		probably benign	Het
Mcu	G	A	10: 59,290,817 (GRCm39)	T121M	probably damaging	Het
Mepce	T	A	5: 137,783,004 (GRCm39)	K441*	probably null	Het
Mettl21e	C	A	1: 44,245,815 (GRCm39)	V144F	probably damaging	Het
Muc6	T	A	7: 141,231,748 (GRCm39)	S1049C	probably damaging	Het
Myh14	C	T	7: 44,274,551 (GRCm39)	V1246M	probably damaging	Het
Myo3a	A	T	2: 22,464,329 (GRCm39)	Q1128L	probably benign	Het
Nat8f2	T	C	6: 85,844,754 (GRCm39)	S203G	probably benign	Het
Npas2	A	G	1: 39,326,652 (GRCm39)	T46A	possibly damaging	Het
Nup133	T	C	8: 124,675,956 (GRCm39)		probably benign	Het
Oplah	C	T	15: 76,190,457 (GRCm39)	R102H	probably benign	Het
Or1x6	T	A	11: 50,939,090 (GRCm39)	I52N	probably benign	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or5g29	A	T	2: 85,421,184 (GRCm39)	Q100L	probably damaging	Het
Or6d13	A	G	6: 116,517,960 (GRCm39)	H182R	probably damaging	Het
Or8g20	C	A	9: 39,396,033 (GRCm39)	C172F	probably damaging	Het
Osgep	C	T	14: 51,162,128 (GRCm39)		probably benign	Het
Pam	A	T	1: 97,768,114 (GRCm39)	D705E	probably damaging	Het
Pkd1l3	C	G	8: 110,373,008 (GRCm39)	N1284K	probably damaging	Het
Plekhg2	A	G	7: 28,064,741 (GRCm39)	F407S	probably damaging	Het
Pygl	A	G	12: 70,274,113 (GRCm39)		probably null	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rhobtb1	A	G	10: 69,084,720 (GRCm39)	N37S	probably damaging	Het
Sema6a	T	A	18: 47,424,972 (GRCm39)	D213V	probably damaging	Het
Skint11	A	T	4: 114,101,806 (GRCm39)	Q273L	possibly damaging	Het
Skint7	A	T	4: 111,839,426 (GRCm39)	H240L	probably benign	Het
Slc12a2	C	T	18: 58,054,944 (GRCm39)	Q862*	probably null	Het
Smox	A	G	2: 131,364,100 (GRCm39)	S468G	probably benign	Het
Spc25	A	G	2: 69,035,257 (GRCm39)	S50P	probably damaging	Het
Srrm1	A	T	4: 135,052,326 (GRCm39)	S683T	unknown	Het
Syne1	T	C	10: 5,220,970 (GRCm39)	E3103G	probably benign	Het
Tenm4	C	A	7: 96,378,553 (GRCm39)		probably benign	Het
Tent4b	T	A	8: 88,974,186 (GRCm39)	I294N	probably damaging	Het
Tmem123	T	C	9: 7,791,064 (GRCm39)	S122P	possibly damaging	Het
Trav18	A	T	14: 54,068,572 (GRCm39)	K4I	probably benign	Het
Triml1	T	C	8: 43,583,420 (GRCm39)	S394G	probably damaging	Het
Ubr4	A	T	4: 139,195,413 (GRCm39)	S1212C	unknown	Het
Usp34	G	A	11: 23,311,295 (GRCm39)	R442Q		Het
Usp43	G	A	11: 67,782,284 (GRCm39)	P378L	probably damaging	Het
Vmn1r212	A	G	13: 23,067,935 (GRCm39)	F133L	probably benign	Het
Vmn1r213	A	G	13: 23,195,910 (GRCm39)	I164M	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,998 (GRCm39)	P347S	probably damaging	Het
Zfp106	A	T	2: 120,355,000 (GRCm39)	V1280E	possibly damaging	Het
Zfp317	T	C	9: 19,553,265 (GRCm39)	S13P	probably benign	Het
Zfp608	C	A	18: 55,032,618 (GRCm39)	A441S	probably benign	Het
Zup1	T	C	10: 33,816,248 (GRCm39)	D232G	probably damaging	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
R0518:Cyp2r1	UTSW	7	114,152,135 (GRCm39)	missense	probably benign	0.01
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
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'- ACGTACAACTGCATCTTCCG -3'
(R):5'- TACTCTGATTCTAGGCTGATCATAC -3'

Sequencing Primer
(F):5'- GTACAACTGCATCTTCCGAAGTTG -3'
(R):5'- TTGACCTTACCAGAGTGTTGG -3'

Posted On

2020-01-23