Mutagenetix > Incidental Mutation

Incidental Mutation 'R1886:Por'

209530

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

039907-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1886 (G1)

Quality Score

138

Status

Not validated

Chromosome

Chromosomal Location

135698894-135764180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135763128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 546 (E546G)

Ref Sequence

ENSEMBL: ENSMUSP00000112924 (fasta)

Gene Model

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

AlphaFold

P37040

Predicted Effect

probably damaging
Transcript: ENSMUST00000005651
AA Change: E546G

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

SMART Domains

Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: E546G

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 damaging
Transcript: ENSMUST00000122113
AA Change: E546G

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

SMART Domains

Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: E546G

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: ENSMUST00000147515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184682

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: 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: 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

Coding Region Coverage

1x: 97.2%
3x: 96.2%
10x: 93.1%
20x: 85.9%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acacb	T	A	5: 114,357,020 (GRCm39)	L1317Q	probably damaging	Het
Acsf3	T	C	8: 123,510,741 (GRCm39)	V293A	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Ahnak	G	A	19: 8,993,343 (GRCm39)	D4876N	probably damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Arhgdia	T	C	11: 120,470,244 (GRCm39)	D143G	probably benign	Het
Bcl9	G	T	3: 97,122,713 (GRCm39)	R29S	probably benign	Het
Bhmt2	T	A	13: 93,798,998 (GRCm39)	K274N	probably benign	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cfap299	A	G	5: 98,949,690 (GRCm39)	N208S	probably benign	Het
Cit	A	G	5: 116,071,545 (GRCm39)	Y584C	probably damaging	Het
Crebl2	T	C	6: 134,828,059 (GRCm39)	M77T	probably benign	Het
Dach2	G	A	X: 112,208,305 (GRCm39)	G61D	probably benign	Het
Ddx4	A	T	13: 112,759,199 (GRCm39)	D237E	probably damaging	Het
Dgcr8	A	G	16: 18,096,218 (GRCm39)	I490T	possibly damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Dnah17	T	A	11: 117,998,987 (GRCm39)	I929F	possibly damaging	Het
Eif3f	A	G	7: 108,539,958 (GRCm39)	T289A	probably benign	Het
Ercc5	A	T	1: 44,215,136 (GRCm39)	K890*	probably null	Het
Esrp2	A	T	8: 106,860,489 (GRCm39)	V247E	probably damaging	Het
Evpl	C	T	11: 116,118,402 (GRCm39)	G735E	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxl21	A	G	13: 56,674,906 (GRCm39)	I60V	probably benign	Het
Frem3	A	G	8: 81,340,514 (GRCm39)	I936V	probably benign	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gad1-ps	T	C	10: 99,281,444 (GRCm39)		noncoding transcript	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gmppa	T	C	1: 75,419,152 (GRCm39)	V353A	probably damaging	Het
Hmcn1	T	C	1: 150,453,046 (GRCm39)	E5423G	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Krt12	T	C	11: 99,309,402 (GRCm39)	D286G	probably damaging	Het
Krt75	A	T	15: 101,479,532 (GRCm39)	M266K	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Lag3	T	C	6: 124,886,402 (GRCm39)	N184D	probably damaging	Het
Lsm10	C	G	4: 125,991,741 (GRCm39)	D32E	probably benign	Het
Mettl5	A	G	2: 69,711,149 (GRCm39)	V123A	probably damaging	Het
Mfrp	A	G	9: 44,014,785 (GRCm39)	D274G	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Mplkipl1	A	G	19: 61,164,136 (GRCm39)	F100L	probably damaging	Het
Mttp	A	T	3: 137,798,376 (GRCm39)	V840D	probably damaging	Het
Nadk2	A	C	15: 9,103,446 (GRCm39)	N308H	possibly damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlk	T	A	11: 78,477,754 (GRCm39)	I330F	probably damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5p73	A	T	7: 108,064,947 (GRCm39)	M139L	probably benign	Het
Orc2	T	C	1: 58,510,247 (GRCm39)		probably null	Het
Orc3	A	G	4: 34,584,829 (GRCm39)	Y459H	probably damaging	Het
Pah	T	A	10: 87,364,190 (GRCm39)	N30K	possibly damaging	Het
Pcsk4	T	C	10: 80,164,794 (GRCm39)	K74E	probably benign	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pfkm	A	G	15: 98,025,627 (GRCm39)	N547S	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Prdm1	T	A	10: 44,315,754 (GRCm39)	D794V	probably damaging	Het
Prdx5	A	G	19: 6,885,558 (GRCm39)	I32T	probably benign	Het
Prlhr	G	T	19: 60,455,932 (GRCm39)	C211*	probably null	Het
Ripk3	C	T	14: 56,025,694 (GRCm39)		probably null	Het
Rmnd5b	G	A	11: 51,518,465 (GRCm39)	A137V	probably damaging	Het
Rwdd2b	A	T	16: 87,234,013 (GRCm39)	F72I	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Septin1	A	G	7: 126,813,937 (GRCm39)		probably benign	Het
Serpinb9h	C	T	13: 33,588,203 (GRCm39)	R263C	possibly damaging	Het
Slc30a10	T	A	1: 185,195,061 (GRCm39)	I291N	probably damaging	Het
Slc7a9	T	G	7: 35,152,827 (GRCm39)	C20W	possibly damaging	Het
Slc7a9	G	C	7: 35,152,828 (GRCm39)	A21P	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Sra1	T	C	18: 36,801,830 (GRCm39)	M87V	probably benign	Het
Syvn1	T	C	19: 6,099,257 (GRCm39)	S169P	possibly damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tmem62	A	T	2: 120,817,151 (GRCm39)	I236F	probably damaging	Het
Trip4	T	A	9: 65,782,163 (GRCm39)	I190F	probably null	Het
Trpa1	T	C	1: 14,959,649 (GRCm39)	D679G	probably benign	Het
Ttc22	T	A	4: 106,494,063 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Usp36	A	T	11: 118,163,784 (GRCm39)	Y255N	probably damaging	Het
Zfp944	A	T	17: 22,558,960 (GRCm39)	Y96N	probably benign	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
R0355:Por	UTSW	5	135,761,438 (GRCm39)	missense	probably benign	0.38
R1755:Por	UTSW	5	135,758,339 (GRCm39)	nonsense	probably null
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'- CGAAGTCTGGACGAGTGAAC -3'
(R):5'- CACATTAAGCTGCGTGAGGG -3'

Sequencing Primer
(F):5'- TGAACAAGGGGGTGGCCAC -3'
(R):5'- TCCTCGCGGTACAGATAGTC -3'

Posted On

2014-06-30