Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Por'

65385

Institutional Source

Beutler Lab

Gene Symbol

Por

Ensembl Gene

ENSMUSG00000005514

Gene Name

cytochrome p450 oxidoreductase

Synonyms

NADH cytochrome P450 oxydoreductase, 4933424M13Rik, CYPOR, CPR

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0355 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

135698894-135764180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135761438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 308 (S308L)

Ref Sequence

ENSEMBL: ENSMUSP00000112924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005651] [ENSMUST00000043378] [ENSMUST00000122113] [ENSMUST00000127096] [ENSMUST00000153515] [ENSMUST00000153399] [ENSMUST00000153500]

AlphaFold

P37040

Predicted Effect

probably benign
Transcript: ENSMUST00000005651
AA Change: S308L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: S308L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	1.6e-40	PFAM
Pfam:FAD_binding_1	274	493	1.3e-84	PFAM
Pfam:NAD_binding_1	530	642	2.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043378

SMART Domains

Protein: ENSMUSP00000045252
Gene: ENSMUSG00000039886

Domain	Start	End	E-Value	Type
Pfam:TMPIT	13	336	4.2e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122113
AA Change: S308L

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: S308L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	2.6e-40	PFAM
Pfam:FAD_binding_1	274	493	5.1e-87	PFAM
Pfam:NAD_binding_1	530	605	3.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127096

SMART Domains

Protein: ENSMUSP00000119138
Gene: ENSMUSG00000005514

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:Flavodoxin_1	127	168	5.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199952

Predicted Effect

probably benign
Transcript: ENSMUST00000153515

SMART Domains

Protein: ENSMUSP00000121022
Gene: ENSMUSG00000005514

Domain	Start	End	E-Value	Type
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	3.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153399

SMART Domains

Protein: ENSMUSP00000120834
Gene: ENSMUSG00000039886

Domain	Start	End	E-Value	Type
Pfam:TMPIT	12	93	9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153500

SMART Domains

Protein: ENSMUSP00000121531
Gene: ENSMUSG00000005514

Domain	Start	End	E-Value	Type
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	5.9e-41	PFAM

Meta Mutation Damage Score

0.1167

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects of the neural tube, eye, heart, and limbs, retarded growth, and prenatal lethality. Liver-specific knockouts exhibit increased liver weight, hepatic lipidosis, and impaired drug metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,021 (GRCm39)	I52M	possibly damaging	Het
Agbl5	G	T	5: 31,049,335 (GRCm39)		probably null	Het
Akt2	T	C	7: 27,336,334 (GRCm39)		probably benign	Het
Arl6ip5	T	A	6: 97,209,378 (GRCm39)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,952,800 (GRCm39)		probably benign	Het
Ccdc171	A	T	4: 83,553,919 (GRCm39)	N422Y	probably damaging	Het
Ccr5	C	T	9: 123,924,951 (GRCm39)	P185S	possibly damaging	Het
Cep63	G	T	9: 102,500,759 (GRCm39)	Q38K	probably benign	Het
Cgn	T	C	3: 94,682,242 (GRCm39)	S446G	probably benign	Het
Col16a1	T	A	4: 129,952,206 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 15,968,330 (GRCm39)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,708,279 (GRCm39)	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,535,067 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,502,992 (GRCm39)	C66*	probably null	Het
Dnah12	T	A	14: 26,427,272 (GRCm39)		probably null	Het
Dnajb9	T	A	12: 44,253,987 (GRCm39)	H140L	probably damaging	Het
Dnase1	G	A	16: 3,857,413 (GRCm39)	V237M	probably damaging	Het
Dscam	C	A	16: 96,456,105 (GRCm39)	E1274D	probably benign	Het
Epb41	T	C	4: 131,727,572 (GRCm39)	H243R	probably damaging	Het
Evc	T	A	5: 37,473,656 (GRCm39)		probably benign	Het
Fcgrt	T	A	7: 44,752,493 (GRCm39)	M1L	unknown	Het
Flii	T	C	11: 60,610,506 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Gm10447	T	C	11: 53,347,257 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,101,054 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,055,975 (GRCm39)		noncoding transcript	Het
Gpr137	G	C	19: 6,916,491 (GRCm39)	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,343,652 (GRCm39)	D116V	probably benign	Het
Grin2c	A	G	11: 115,151,554 (GRCm39)		probably benign	Het
Havcr1	A	G	11: 46,647,051 (GRCm39)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 35,196,386 (GRCm39)	T142S	probably benign	Het
Ift140	T	A	17: 25,267,409 (GRCm39)	Y602*	probably null	Het
Il18	T	A	9: 50,490,575 (GRCm39)		probably benign	Het
Ilf3	T	C	9: 21,309,266 (GRCm39)	V474A	probably damaging	Het
Inppl1	T	C	7: 101,476,664 (GRCm39)	Y771C	probably damaging	Het
Ints2	T	C	11: 86,125,575 (GRCm39)	T542A	probably benign	Het
Ipo7	T	C	7: 109,648,868 (GRCm39)	Y714H	probably benign	Het
Itgbl1	T	A	14: 124,077,997 (GRCm39)	C162*	probably null	Het
Kcp	T	C	6: 29,496,926 (GRCm39)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,376,613 (GRCm39)	T181N	probably benign	Het
Lrrc40	A	T	3: 157,746,108 (GRCm39)	D61V	probably damaging	Het
Lypd4	T	A	7: 24,564,691 (GRCm39)	H149L	probably benign	Het
Map3k4	A	G	17: 12,473,058 (GRCm39)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,972,982 (GRCm39)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,845,632 (GRCm39)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,839,957 (GRCm39)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,760,824 (GRCm39)	Y89C	probably damaging	Het
Or10g7	T	A	9: 39,905,459 (GRCm39)	S118T	possibly damaging	Het
Or10h28	T	A	17: 33,488,109 (GRCm39)	M137K	probably damaging	Het
Or13p3	T	A	4: 118,566,808 (GRCm39)	M68K	probably benign	Het
Or7a37	T	G	10: 78,806,267 (GRCm39)	S261R	probably damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm39)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,618,165 (GRCm39)	N17I	possibly damaging	Het
Prmt8	T	A	6: 127,688,837 (GRCm39)	K178*	probably null	Het
Rev3l	A	G	10: 39,693,282 (GRCm39)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,539,009 (GRCm39)	V309A	probably benign	Het
Slc15a5	A	G	6: 137,995,112 (GRCm39)		probably benign	Het
Slc30a6	G	A	17: 74,730,198 (GRCm39)	V363I	probably benign	Het
Snf8	G	A	11: 95,930,125 (GRCm39)	M42I	probably benign	Het
Stom	T	C	2: 35,215,371 (GRCm39)	I65V	probably benign	Het
Tacr3	C	T	3: 134,637,989 (GRCm39)	T382I	probably benign	Het
Tenm3	A	G	8: 48,682,010 (GRCm39)	V2540A	probably damaging	Het
Trabd	A	G	15: 88,969,816 (GRCm39)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,025,486 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,856,099 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,589,015 (GRCm39)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm39)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,751,582 (GRCm39)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,806 (GRCm39)		probably benign	Het
Zfc3h1	T	C	10: 115,245,018 (GRCm39)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,653,466 (GRCm39)		probably benign	Het
Zkscan7	T	A	9: 122,717,872 (GRCm39)	L89Q	probably damaging	Het

Other mutations in Por

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01453:Por	APN	5	135,763,040 (GRCm39)	nonsense	probably null
IGL02126:Por	APN	5	135,744,829 (GRCm39)	missense	probably benign	0.00
R0201:Por	UTSW	5	135,760,032 (GRCm39)	missense	possibly damaging	0.94
R1755:Por	UTSW	5	135,758,339 (GRCm39)	nonsense	probably null
R1886:Por	UTSW	5	135,763,128 (GRCm39)	missense	probably damaging	1.00
R4057:Por	UTSW	5	135,760,428 (GRCm39)	missense	probably damaging	1.00
R4282:Por	UTSW	5	135,744,815 (GRCm39)	missense	possibly damaging	0.48
R4761:Por	UTSW	5	135,754,784 (GRCm39)	intron	probably benign
R5057:Por	UTSW	5	135,759,756 (GRCm39)	missense	probably damaging	1.00
R5064:Por	UTSW	5	135,762,649 (GRCm39)	missense	probably benign	0.23
R5159:Por	UTSW	5	135,759,771 (GRCm39)	missense	probably benign	0.38
R5580:Por	UTSW	5	135,762,675 (GRCm39)	missense	probably damaging	0.98
R5895:Por	UTSW	5	135,744,838 (GRCm39)	missense	probably benign	0.03
R7225:Por	UTSW	5	135,761,441 (GRCm39)	missense	probably benign
R7422:Por	UTSW	5	135,763,773 (GRCm39)	missense	probably benign	0.06
R7461:Por	UTSW	5	135,758,358 (GRCm39)	missense	probably damaging	0.99
R7488:Por	UTSW	5	135,762,498 (GRCm39)	missense	probably benign	0.00
R7613:Por	UTSW	5	135,758,358 (GRCm39)	missense	probably damaging	0.99
R7649:Por	UTSW	5	135,763,359 (GRCm39)	missense	probably damaging	0.99
R7736:Por	UTSW	5	135,759,976 (GRCm39)	missense	probably damaging	0.98
R8696:Por	UTSW	5	135,763,112 (GRCm39)	missense	probably benign
R9086:Por	UTSW	5	135,744,918 (GRCm39)	critical splice donor site	probably null
R9398:Por	UTSW	5	135,754,597 (GRCm39)	missense	unknown
R9638:Por	UTSW	5	135,754,615 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCAAATGACATGCAGCCATCTCAG -3'
(R):5'- ACATGATGACATCCAGGTCAGCCC -3'

Sequencing Primer
(F):5'- GACAGCCCATGCAGTATTCTG -3'
(R):5'- TCAGCCCCCAGGATCTC -3'

Posted On

2013-08-08