Mutagenetix > Incidental Mutation

Incidental Mutation 'R8696:Por'

668693

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

068550-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135698894-135764180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135763112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 541 (M541L)

Ref Sequence

ENSEMBL: ENSMUSP00000005651 (fasta)

Gene Model

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

AlphaFold

P37040

Predicted Effect

probably benign
Transcript: ENSMUST00000005651
AA Change: M541L

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

SMART Domains

Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: M541L

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: M541L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: M541L

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,687,235 (GRCm39)	N423S	probably benign	Het
Adgrl4	T	C	3: 151,248,344 (GRCm39)	L672P	probably damaging	Het
Akr1b10	C	T	6: 34,369,067 (GRCm39)	T182I	possibly damaging	Het
Ankrd33	A	G	15: 101,014,864 (GRCm39)	I84V	probably benign	Het
Arhgap32	A	G	9: 32,159,799 (GRCm39)	Y272C	possibly damaging	Het
Arid4a	T	C	12: 71,110,090 (GRCm39)	S144P	probably damaging	Het
Bicd1	A	G	6: 149,415,285 (GRCm39)	D666G	probably damaging	Het
Blk	A	T	14: 63,618,149 (GRCm39)		probably benign	Het
Btbd2	C	T	10: 80,480,515 (GRCm39)	R366Q	possibly damaging	Het
Cacna1i	T	C	15: 80,266,175 (GRCm39)	V1554A	probably damaging	Het
Camsap3	T	C	8: 3,653,614 (GRCm39)	L428P	probably damaging	Het
Ccdc30	T	G	4: 119,234,505 (GRCm39)	Y69S	possibly damaging	Het
Ccdc7a	T	A	8: 129,715,244 (GRCm39)	E280V	probably damaging	Het
Cdk11b	T	C	4: 155,732,779 (GRCm39)	V539A	unknown	Het
Ceacam3	A	T	7: 16,893,937 (GRCm39)	N483Y		Het
Cenpf	C	T	1: 189,390,194 (GRCm39)	A1213T	probably benign	Het
Chrna6	G	T	8: 27,897,195 (GRCm39)	Y227*	probably null	Het
Cntnap5c	A	T	17: 58,601,294 (GRCm39)	D814V	probably damaging	Het
Csl	A	T	10: 99,594,826 (GRCm39)	Y80N	probably damaging	Het
Ctsm	A	G	13: 61,685,521 (GRCm39)	L297P	probably damaging	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Dhx8	T	C	11: 101,623,958 (GRCm39)	V31A	unknown	Het
Dis3l2	G	T	1: 86,719,162 (GRCm39)	G131*	probably null	Het
Dkk1	G	A	19: 30,526,688 (GRCm39)	A31V	probably damaging	Het
Dlx3	C	T	11: 95,012,596 (GRCm39)	R130*	probably null	Het
Dnajc24	T	C	2: 105,832,315 (GRCm39)	M23V	probably benign	Het
Dnmbp	T	A	19: 43,862,662 (GRCm39)	N76I	probably damaging	Het
Ezh1	T	C	11: 101,100,305 (GRCm39)	N226S	probably benign	Het
Fabp9	C	T	3: 10,259,047 (GRCm39)	V120M	possibly damaging	Het
Fcrlb	A	G	1: 170,739,648 (GRCm39)	C85R	probably damaging	Het
Gnai2	A	C	9: 107,496,968 (GRCm39)	L131R		Het
Gprin1	A	G	13: 54,885,764 (GRCm39)	W837R	probably damaging	Het
Grm3	C	T	5: 9,562,311 (GRCm39)	C513Y	probably damaging	Het
H60c	T	A	10: 3,210,265 (GRCm39)	I95F	possibly damaging	Het
Hecw1	A	G	13: 14,531,743 (GRCm39)	V177A	possibly damaging	Het
Herc6	T	A	6: 57,624,134 (GRCm39)	C635S	probably benign	Het
Itga4	A	T	2: 79,112,125 (GRCm39)	M347L	probably benign	Het
Kif20b	A	G	19: 34,914,752 (GRCm39)	H436R	probably benign	Het
Klrg2	G	T	6: 38,613,430 (GRCm39)	P191Q	possibly damaging	Het
Krt5	A	G	15: 101,618,742 (GRCm39)	Y340H	probably damaging	Het
Map9	T	A	3: 82,270,668 (GRCm39)	H77Q	possibly damaging	Het
Mfsd13a	A	G	19: 46,356,557 (GRCm39)	T221A	probably benign	Het
Myo10	C	G	15: 25,799,572 (GRCm39)	H1378Q	probably damaging	Het
Nkx6-1	T	C	5: 101,807,513 (GRCm39)	T290A	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Notch1	T	A	2: 26,368,004 (GRCm39)		probably benign	Het
Nr1d2	A	T	14: 18,216,661 (GRCm38)	M169K	probably damaging	Het
Or10ak8	C	T	4: 118,774,635 (GRCm39)	V10I	probably benign	Het
Or11g1	A	G	14: 50,651,420 (GRCm39)	M140V	possibly damaging	Het
Or13c7c	A	G	4: 43,836,193 (GRCm39)	V99A	probably benign	Het
Or6c69b	A	T	10: 129,626,562 (GRCm39)	F299I	possibly damaging	Het
Or8b41	A	G	9: 38,054,433 (GRCm39)	M1V	probably null	Het
Pdia6	T	A	12: 17,329,662 (GRCm39)	I266K	probably damaging	Het
Phactr4	T	C	4: 132,091,105 (GRCm39)		probably null	Het
Polr1b	T	A	2: 128,967,571 (GRCm39)	L988Q	probably damaging	Het
Ppid	T	C	3: 79,498,689 (GRCm39)		probably benign	Het
Prp2	A	T	6: 132,577,322 (GRCm39)	Q203L	unknown	Het
Psme4	T	G	11: 30,759,896 (GRCm39)	F340V	probably damaging	Het
Ptges2	T	C	2: 32,290,077 (GRCm39)	S164P	probably damaging	Het
Rab18	G	A	18: 6,788,635 (GRCm39)	G201S	probably damaging	Het
Rbm19	A	G	5: 120,265,132 (GRCm39)	E391G	probably damaging	Het
Rcbtb2	T	G	14: 73,404,305 (GRCm39)	V259G	probably damaging	Het
Rpn1	C	A	6: 88,080,359 (GRCm39)	Q553K	possibly damaging	Het
Sash1	A	G	10: 8,609,459 (GRCm39)	S697P	probably damaging	Het
Sdad1	T	G	5: 92,437,645 (GRCm39)	H603P	probably damaging	Het
Serpini1	T	C	3: 75,520,544 (GRCm39)	L47P	probably damaging	Het
Sorbs2	T	A	8: 46,248,686 (GRCm39)	S646T	possibly damaging	Het
Spdye4a	T	A	5: 143,210,754 (GRCm39)	E105D	probably benign	Het
Srsf12	G	A	4: 33,231,181 (GRCm39)	C230Y	possibly damaging	Het
Stard9	A	T	2: 120,531,595 (GRCm39)	R2617S	probably benign	Het
Tas2r118	G	T	6: 23,969,344 (GRCm39)	T239K	probably damaging	Het
Tlr1	A	G	5: 65,084,094 (GRCm39)	L161P	probably benign	Het
Ttc21a	T	G	9: 119,772,977 (GRCm39)	V218G	possibly damaging	Het
Ttc6	T	C	12: 57,784,492 (GRCm39)	S1854P	probably benign	Het
Unc93a	A	G	17: 13,341,852 (GRCm39)	L93P	probably damaging	Het
Vcan	A	T	13: 89,839,217 (GRCm39)	I2109N	probably benign	Het
Vmn1r225	A	T	17: 20,723,419 (GRCm39)	S287C	probably damaging	Het
Vmn1r43	A	G	6: 89,847,321 (GRCm39)	F55S	probably damaging	Het
Zfp772	T	C	7: 7,208,518 (GRCm39)	T109A	possibly damaging	Het
Zfp87	A	G	13: 74,520,599 (GRCm39)	Y160H	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
R0355:Por	UTSW	5	135,761,438 (GRCm39)	missense	probably benign	0.38
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
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'- ACATTAAGCTGCGTGAGGG -3'

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

Posted On

2021-04-30