Mutagenetix > Incidental Mutation

Incidental Mutation 'R6995:Cyp2r1'

544133

Institutional Source

Beutler Lab

Gene Symbol

Cyp2r1

Ensembl Gene

ENSMUSG00000030670

Gene Name

cytochrome P450, family 2, subfamily r, polypeptide 1

Synonyms

MMRRC Submission

045101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114149358-114162283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114152316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 5 (F5I)

Ref Sequence

ENSEMBL: ENSMUSP00000147544 (fasta)

Gene Model

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

AlphaFold

Q6VVW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000032908
AA Change: F214I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032908
Gene: ENSMUSG00000030670
AA Change: F214I

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 damaging
Transcript: ENSMUST00000128587
AA Change: F139I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121924
Gene: ENSMUSG00000030670
AA Change: F139I

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 damaging
Transcript: ENSMUST00000211506
AA Change: F5I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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. 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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,644,149 (GRCm39)	Y606C	probably benign	Het
Acad9	A	G	3: 36,139,630 (GRCm39)	Y410C	probably damaging	Het
Acot6	C	T	12: 84,156,149 (GRCm39)	P366S	probably damaging	Het
Adrm1b	T	C	3: 92,336,315 (GRCm39)		probably benign	Het
Anks1	G	T	17: 28,273,273 (GRCm39)	G964V	probably damaging	Het
Apol7a	A	T	15: 77,274,176 (GRCm39)		probably benign	Het
Arid3c	G	A	4: 41,725,087 (GRCm39)	A320V	probably damaging	Het
Bnip3l	A	T	14: 67,237,101 (GRCm39)	N50K	probably benign	Het
C1qtnf4	C	A	2: 90,720,297 (GRCm39)	A190D	probably benign	Het
Calhm5	A	T	10: 33,972,189 (GRCm39)	M82K	probably benign	Het
Cdcp3	G	T	7: 130,824,400 (GRCm39)	W165L	probably damaging	Het
Cdh1	G	T	8: 107,387,545 (GRCm39)	V482L	probably benign	Het
Cdrt4	A	C	11: 62,883,486 (GRCm39)	I63L	probably benign	Het
Cic	A	T	7: 24,970,736 (GRCm39)	T156S	possibly damaging	Het
Ckm	A	G	7: 19,154,156 (GRCm39)	N301S	probably benign	Het
Colgalt1	C	T	8: 72,076,165 (GRCm39)	R539C	probably damaging	Het
Cop1	A	G	1: 159,134,154 (GRCm39)	D132G	probably damaging	Het
Cpd	G	T	11: 76,675,881 (GRCm39)	N1257K	probably benign	Het
Cyp2c67	T	C	19: 39,604,123 (GRCm39)	H411R	probably damaging	Het
Dclk3	T	A	9: 111,296,768 (GRCm39)	L104Q	possibly damaging	Het
Dnah7c	A	T	1: 46,494,973 (GRCm39)	Q67L	probably benign	Het
Dnm1l	C	A	16: 16,147,671 (GRCm39)	E365*	probably null	Het
Dst	A	T	1: 34,205,315 (GRCm39)	I502F	probably damaging	Het
Espl1	T	C	15: 102,212,535 (GRCm39)	V547A	possibly damaging	Het
Foxa1	C	T	12: 57,589,264 (GRCm39)	A319T	probably benign	Het
Frem1	G	T	4: 82,904,838 (GRCm39)	H859N	probably damaging	Het
Frem3	T	A	8: 81,339,208 (GRCm39)	D500E	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grip1	A	G	10: 119,822,375 (GRCm39)	D394G	probably damaging	Het
Gsap	C	A	5: 21,476,235 (GRCm39)	T589K	possibly damaging	Het
Gsg1l	A	G	7: 125,522,658 (GRCm39)	V190A	probably damaging	Het
Kcnmb1	A	T	11: 33,920,131 (GRCm39)	T115S	probably benign	Het
Kirrel2	A	C	7: 30,154,604 (GRCm39)	F169C	probably damaging	Het
L3mbtl1	C	T	2: 162,803,368 (GRCm39)	T397M	probably damaging	Het
Lama1	G	A	17: 68,060,820 (GRCm39)	C716Y		Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Lrig1	T	C	6: 94,588,610 (GRCm39)	D513G	possibly damaging	Het
Lrrk1	T	C	7: 65,942,090 (GRCm39)	D716G	probably damaging	Het
Matn4	G	A	2: 164,231,584 (GRCm39)	R582*	probably null	Het
Mdn1	A	T	4: 32,733,374 (GRCm39)	R3133W	probably benign	Het
Mmp7	A	G	9: 7,695,489 (GRCm39)	D122G	probably damaging	Het
Naaladl1	A	G	19: 6,165,578 (GRCm39)	D744G	possibly damaging	Het
Nampt	T	G	12: 32,898,742 (GRCm39)	Y453D	probably benign	Het
Nlrp12	A	G	7: 3,288,481 (GRCm39)	V677A	probably benign	Het
Ntng2	T	C	2: 29,087,080 (GRCm39)	N414S	probably damaging	Het
Or1e16	A	G	11: 73,286,410 (GRCm39)	V146A	probably benign	Het
Or4g17	A	G	2: 111,209,708 (GRCm39)	D121G	probably damaging	Het
Or5p52	A	G	7: 107,502,829 (GRCm39)	R302G	probably benign	Het
Or9m1b	A	C	2: 87,836,529 (GRCm39)	F189V	probably benign	Het
Parp4	A	C	14: 56,851,196 (GRCm39)	Q733P	probably damaging	Het
Pdcl3	G	A	1: 39,034,417 (GRCm39)	V56I	probably benign	Het
Pepd	A	G	7: 34,721,144 (GRCm39)	Y256C	probably damaging	Het
Plg	G	T	17: 12,637,938 (GRCm39)	R788L	probably benign	Het
Plod1	A	T	4: 148,000,675 (GRCm39)		probably benign	Het
Ptprc	A	G	1: 138,016,482 (GRCm39)	V513A	probably damaging	Het
Pxdn	T	C	12: 30,045,370 (GRCm39)	I373T	possibly damaging	Het
Qrfprl	A	T	6: 65,418,285 (GRCm39)	K151I	probably damaging	Het
Rbbp8	G	A	18: 11,851,965 (GRCm39)	G262E	probably damaging	Het
Rfc2	T	A	5: 134,623,104 (GRCm39)	Y240*	probably null	Het
Rps15	A	G	10: 80,129,598 (GRCm39)	E71G	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr1	A	C	7: 28,793,607 (GRCm39)	M1287R	probably damaging	Het
Scart2	G	A	7: 139,841,514 (GRCm39)	D273N	probably benign	Het
Serpina9	A	G	12: 103,967,495 (GRCm39)	L300P	probably damaging	Het
Sh3rf2	G	A	18: 42,234,606 (GRCm39)	A130T	probably damaging	Het
Slc12a8	G	A	16: 33,355,263 (GRCm39)	W26*	probably null	Het
Snx18	A	T	13: 113,731,265 (GRCm39)	H576Q	probably damaging	Het
Tagln3	G	A	16: 45,543,321 (GRCm39)	T107I	probably benign	Het
Thap1	C	A	8: 26,652,679 (GRCm39)	T139K	probably damaging	Het
Tle4	T	A	19: 14,541,817 (GRCm39)		probably null	Het
Tmem87a	A	T	2: 120,193,409 (GRCm39)	M502K	possibly damaging	Het
Tpcn2	A	T	7: 144,810,522 (GRCm39)	V605E	probably benign	Het
Trgj1	C	A	13: 19,394,529 (GRCm39)		probably benign	Het
Tsc2	A	T	17: 24,847,028 (GRCm39)	V179E	probably damaging	Het
Ubap2l	T	C	3: 89,916,548 (GRCm39)	T909A	probably damaging	Het
Ubl4b	T	G	3: 107,462,140 (GRCm39)	Q40P	probably damaging	Het
Vmn1r229	A	G	17: 21,035,277 (GRCm39)	D174G	probably damaging	Het
Vmn2r50	A	T	7: 9,779,964 (GRCm39)	Y472*	probably null	Het
Vmn2r74	T	A	7: 85,601,943 (GRCm39)	D565V	probably benign	Het
Vmn2r74	T	A	7: 85,606,860 (GRCm39)		probably null	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Zfp335	G	A	2: 164,735,210 (GRCm39)	Q1179*	probably null	Het
Zmynd12	A	C	4: 119,310,772 (GRCm39)	K327Q	probably benign	Het
Zwilch	G	A	9: 64,072,731 (GRCm39)	Q27*	probably null	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
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'- TGAGGCTTTCTATTGACTGCAG -3'
(R):5'- CAGAAGGTTGGCTGTTAACAG -3'

Sequencing Primer
(F):5'- CAGCTTTTTCAATAAGTCTGGAGAGG -3'
(R):5'- ACAGCTTTCATTATTTTGGAAGTGGC -3'

Posted On

2019-05-13