Mutagenetix > Incidental Mutation

Incidental Mutation 'R8116:Cyp2r1'

631202

Institutional Source

Beutler Lab

Gene Symbol

Cyp2r1

Ensembl Gene

ENSMUSG00000030670

Gene Name

cytochrome P450, family 2, subfamily r, polypeptide 1

Synonyms

MMRRC Submission

067545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114149358-114162283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114149590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 475 (H475N)

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: H475N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032908
Gene: ENSMUSG00000030670
AA Change: H475N

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
AA Change: H264N

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112818
Gene: ENSMUSG00000030670
AA Change: H264N

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
AA Change: H266N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,982,420 (GRCm39)	N7K	probably benign	Het
Akap9	T	A	5: 4,111,183 (GRCm39)	D3081E	probably benign	Het
Amer2	G	A	14: 60,616,854 (GRCm39)	A350T	probably damaging	Het
Amotl1	A	G	9: 14,466,868 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,752,995 (GRCm39)	V651E	probably damaging	Het
Aox1	T	C	1: 58,115,283 (GRCm39)	V756A	probably damaging	Het
Arap2	A	C	5: 62,887,954 (GRCm39)	I464S	probably benign	Het
Atp8a2	A	C	14: 60,263,657 (GRCm39)	M359R	probably damaging	Het
Aunip	T	C	4: 134,250,618 (GRCm39)	S188P	possibly damaging	Het
Cdt1	A	G	8: 123,298,728 (GRCm39)	E455G	probably benign	Het
Dnah7a	G	T	1: 53,543,049 (GRCm39)	H2374N	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dst	G	A	1: 34,313,261 (GRCm39)	A4343T	probably benign	Het
Efcab3	A	G	11: 105,002,677 (GRCm39)	D304G	possibly damaging	Het
Efcc1	T	C	6: 87,728,772 (GRCm39)	L409P	probably damaging	Het
Eno1	G	T	4: 150,325,526 (GRCm39)	S37I	probably damaging	Het
Ermp1	A	T	19: 29,601,196 (GRCm39)	L517Q	probably damaging	Het
Farp1	T	G	14: 121,471,232 (GRCm39)	I196S	probably damaging	Het
Fbxo21	A	G	5: 118,128,919 (GRCm39)	T310A	possibly damaging	Het
Fbxo31	C	T	8: 122,287,127 (GRCm39)	V149M	probably damaging	Het
Ggcx	C	A	6: 72,406,511 (GRCm39)	T658N	possibly damaging	Het
Gpc5	A	C	14: 115,636,637 (GRCm39)	H440P	probably damaging	Het
H13	C	T	2: 152,537,446 (GRCm39)	A297V	probably damaging	Het
H2-DMb1	T	A	17: 34,374,443 (GRCm39)	L31Q	probably damaging	Het
Ifi207	G	A	1: 173,557,746 (GRCm39)	P331S	unknown	Het
Il11ra1	G	T	4: 41,766,251 (GRCm39)	A263S	probably benign	Het
Il1a	C	A	2: 129,144,864 (GRCm39)	V185F	probably damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kdm4d	T	A	9: 14,375,237 (GRCm39)	K207M	probably damaging	Het
Lrrc37	A	T	11: 103,434,115 (GRCm39)	M3018K	unknown	Het
Lrrc4b	T	C	7: 44,110,533 (GRCm39)	L135P	probably damaging	Het
Lrrk1	A	G	7: 65,912,371 (GRCm39)	Y1730H	possibly damaging	Het
Mcpt2	C	A	14: 56,279,663 (GRCm39)	A18D	probably damaging	Het
Mtmr4	C	T	11: 87,502,756 (GRCm39)	R937*	probably null	Het
Muc16	T	A	9: 18,570,033 (GRCm39)	T829S	unknown	Het
Myof	A	C	19: 37,921,167 (GRCm39)	I1365S	probably damaging	Het
Npc2	C	T	12: 84,807,612 (GRCm39)	R82Q	probably benign	Het
Or10ag2	T	A	2: 87,249,081 (GRCm39)	S228T	probably damaging	Het
Or10d1c	A	T	9: 38,894,169 (GRCm39)	M57K	probably damaging	Het
Or10j2	T	A	1: 173,098,047 (GRCm39)	F102I	possibly damaging	Het
Or2g25	G	A	17: 37,970,631 (GRCm39)	L198F	probably damaging	Het
Or4k45	T	C	2: 111,395,783 (GRCm39)	D2G	probably benign	Het
Or8b3b	A	T	9: 38,584,464 (GRCm39)	I92N	possibly damaging	Het
Or8d2b	T	A	9: 38,789,026 (GRCm39)	S185T	probably damaging	Het
Pdzph1	T	C	17: 59,282,138 (GRCm39)	N48S	probably benign	Het
Plce1	A	T	19: 38,513,262 (GRCm39)	H187L	probably benign	Het
Pramel6	G	T	2: 87,338,808 (GRCm39)	V3F	probably benign	Het
Prr5l	CCTCGCTCGCTCGCTCGC	CCTCGCTCGCTCGC	2: 101,627,919 (GRCm39)		probably null	Het
Pwwp3a	G	A	10: 80,076,231 (GRCm39)	G474S	probably damaging	Het
Rabgap1l	A	G	1: 160,530,012 (GRCm39)	Y358H	probably benign	Het
Rbbp8	T	C	18: 11,855,727 (GRCm39)	S625P	probably damaging	Het
Rhot1	A	T	11: 80,141,879 (GRCm39)	K461I	probably benign	Het
Rpa1	G	A	11: 75,193,501 (GRCm39)	T610I	possibly damaging	Het
Ryr1	G	T	7: 28,810,308 (GRCm39)	H316N	probably benign	Het
Shprh	T	C	10: 11,089,205 (GRCm39)	S1648P	probably damaging	Het
Sipa1	A	T	19: 5,702,140 (GRCm39)	D923E	possibly damaging	Het
Spata6	A	G	4: 111,685,517 (GRCm39)	Y474C	possibly damaging	Het
Sptbn1	A	T	11: 30,089,117 (GRCm39)	I715N	probably damaging	Het
Stab1	A	T	14: 30,880,910 (GRCm39)	D627E	possibly damaging	Het
Stard9	T	A	2: 120,495,420 (GRCm39)	C98*	probably null	Het
Tfpi2	T	C	6: 3,963,872 (GRCm39)	T187A	probably damaging	Het
Tmem63a	G	T	1: 180,788,048 (GRCm39)	K267N	probably benign	Het
Topaz1	C	T	9: 122,604,708 (GRCm39)	A1104V	probably benign	Het
Trmt11	A	G	10: 30,442,490 (GRCm39)	I231T	possibly damaging	Het
Utp15	G	A	13: 98,387,371 (GRCm39)	T401I	probably benign	Het
Vmn2r13	T	C	5: 109,322,926 (GRCm39)	K121R	probably benign	Het
Xab2	C	T	8: 3,663,830 (GRCm39)	R363H	probably damaging	Het
Zfand2b	T	A	1: 75,145,504 (GRCm39)	F3L	possibly damaging	Het
Zfyve28	A	T	5: 34,374,944 (GRCm39)	S357T	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
R8054:Cyp2r1	UTSW	7	114,151,319 (GRCm39)	critical splice acceptor site	probably null
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'- CATAACACCTGTACCTTTGTGC -3'
(R):5'- TCAGTTTCCTGAATGCCACC -3'

Sequencing Primer
(F):5'- AAACAGTGTATTTGTGTTTACTTGGC -3'
(R):5'- CCTGAATGCCACCTGAATATTAG -3'

Posted On

2020-06-30