Mutagenetix > Incidental Mutation

Incidental Mutation 'R7048:Cyp2r1'

547438

Institutional Source

Beutler Lab

Gene Symbol

Cyp2r1

Ensembl Gene

ENSMUSG00000030670

Gene Name

cytochrome P450, family 2, subfamily r, polypeptide 1

Synonyms

MMRRC Submission

045146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114149358-114162283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114151971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 120 (Y120N)

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: Y329N

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

SMART Domains

Protein: ENSMUSP00000032908
Gene: ENSMUSG00000030670
AA Change: Y329N

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: Y254N

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

SMART Domains

Protein: ENSMUSP00000121924
Gene: ENSMUSG00000030670
AA Change: Y254N

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: Y120N

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

Meta Mutation Damage Score

0.4662

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,552,565 (GRCm39)	D629G	probably damaging	Het
Akap11	T	A	14: 78,749,954 (GRCm39)	Q811L		Het
Ank2	T	A	3: 126,819,267 (GRCm39)	Q468L	probably benign	Het
Ano3	A	T	2: 110,513,116 (GRCm39)	Y626*	probably null	Het
Ap1m1	A	G	8: 73,003,642 (GRCm39)	N114S	probably damaging	Het
Asb3	T	A	11: 31,051,121 (GRCm39)	I525N	probably damaging	Het
Atg4a-ps	A	G	3: 103,552,672 (GRCm39)	I223T	probably damaging	Het
B3gnt7	T	C	1: 86,233,308 (GRCm39)	Y68H	probably benign	Het
Bbs5	T	C	2: 69,484,705 (GRCm39)	I125T	probably benign	Het
Cd180	A	G	13: 102,841,431 (GRCm39)	N159S	probably damaging	Het
Cd37	T	C	7: 44,887,888 (GRCm39)		probably benign	Het
Cdk14	T	A	5: 5,143,005 (GRCm39)	Q242L	probably damaging	Het
Clcn1	T	C	6: 42,284,477 (GRCm39)	V605A	probably damaging	Het
Cped1	G	A	6: 22,119,469 (GRCm39)	M309I	probably benign	Het
Ddx3y	A	T	Y: 1,279,491 (GRCm39)	S124R	probably benign	Het
Dlec1	A	T	9: 118,972,472 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,936,944 (GRCm39)	E3420G	possibly damaging	Het
Dnajc13	C	T	9: 104,080,613 (GRCm39)		probably null	Het
Dusp23	A	T	1: 172,459,253 (GRCm39)	Y136*	probably null	Het
Eif4b	A	G	15: 102,001,571 (GRCm39)		probably benign	Het
F13a1	A	G	13: 37,082,117 (GRCm39)	V529A	probably benign	Het
Fhl2	A	G	1: 43,162,808 (GRCm39)	Y236H	probably damaging	Het
Gm826	C	T	2: 160,169,026 (GRCm39)	W94*	probably null	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Hmcn1	T	C	1: 150,475,404 (GRCm39)		probably null	Het
Ifit1bl2	T	C	19: 34,596,551 (GRCm39)	D355G	probably benign	Het
Itga8	A	G	2: 12,115,895 (GRCm39)	V77A	probably damaging	Het
Kcmf1	C	T	6: 72,826,450 (GRCm39)	R40K	probably damaging	Het
Kdm7a	T	C	6: 39,145,982 (GRCm39)	E315G	probably damaging	Het
Kmt2b	C	T	7: 30,268,731 (GRCm39)	G2666D	probably damaging	Het
Lrrtm1	A	G	6: 77,221,152 (GRCm39)	N203S	probably damaging	Het
Mdn1	A	G	4: 32,767,969 (GRCm39)	N5301D	probably benign	Het
Mest	T	G	6: 30,742,723 (GRCm39)	H108Q	probably damaging	Het
Mettl25b	A	G	3: 87,837,167 (GRCm39)	I36T	probably damaging	Het
Moxd1	C	A	10: 24,157,374 (GRCm39)	D335E	probably damaging	Het
Ncf2	A	C	1: 152,683,921 (GRCm39)	N47H	probably benign	Het
Npc1	A	G	18: 12,337,822 (GRCm39)		probably null	Het
Or14j2	A	T	17: 37,886,114 (GRCm39)	S67T	probably damaging	Het
Pcid2	A	G	8: 13,128,243 (GRCm39)	V386A	probably benign	Het
Phactr2	T	A	10: 13,121,168 (GRCm39)	T444S	probably benign	Het
Plekha7	T	C	7: 115,747,559 (GRCm39)	N710D	probably benign	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Pramel15	T	C	4: 144,103,754 (GRCm39)	D124G	probably benign	Het
Ptprz1	A	T	6: 22,961,622 (GRCm39)	Y111F	probably benign	Het
Rbbp8	A	G	18: 11,865,277 (GRCm39)	E722G	possibly damaging	Het
Rimbp3	A	G	16: 17,028,190 (GRCm39)	D538G	probably benign	Het
Rims1	A	G	1: 22,511,901 (GRCm39)	S551P	probably damaging	Het
Rsrc1	A	G	3: 67,088,164 (GRCm39)	D166G	probably damaging	Het
Selenon	T	C	4: 134,270,154 (GRCm39)	N350S	probably benign	Het
Sh3gl2	T	A	4: 85,295,802 (GRCm39)	L168H	probably damaging	Het
Smc3	T	C	19: 53,617,682 (GRCm39)	Y560H	probably benign	Het
Syce1	C	T	7: 140,359,281 (GRCm39)	D147N	possibly damaging	Het
Syt10	A	C	15: 89,675,008 (GRCm39)	V446G	probably damaging	Het
Taar1	T	C	10: 23,796,722 (GRCm39)	L140P	probably benign	Het
Tfpi2	C	A	6: 3,968,032 (GRCm39)	C36F	probably damaging	Het
Thoc5	G	A	11: 4,876,237 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,612,800 (GRCm39)	N319K	probably benign	Het
Trhr2	C	T	8: 123,085,418 (GRCm39)	D189N	probably damaging	Het
Trim42	A	T	9: 97,245,474 (GRCm39)	F442Y	probably damaging	Het
Ubap2	G	A	4: 41,196,033 (GRCm39)	T949I	possibly damaging	Het
Ugt1a8	T	C	1: 88,016,024 (GRCm39)	F146L	probably benign	Het
Vmn2r80	C	A	10: 79,030,153 (GRCm39)	Q660K	probably damaging	Het
Vstm2b	C	T	7: 40,578,800 (GRCm39)	T258I	possibly damaging	Het
Washc2	T	C	6: 116,197,544 (GRCm39)	L259P	possibly damaging	Het
Zscan18	A	T	7: 12,508,671 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,757,525 (GRCm39)	Y1193*	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
R6995:Cyp2r1	UTSW	7	114,152,316 (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'- AGCTTCCACATACTCAGCCTG -3'
(R):5'- CAGTCAATAGAAAGCCTCATTTACCTC -3'

Sequencing Primer
(F):5'- TTCCTTCCTTTTCCTTAAATCTGC -3'
(R):5'- CACCATTTTGTTGATGCCTATTTAG -3'

Posted On

2019-05-13