Mutagenetix > Incidental Mutation

Incidental Mutation 'R5064:Por'

388255

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

042654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135698894-135764180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135762649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 421 (V421A)

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: V421A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: V421A

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: V421A

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: V421A

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: ENSMUST00000149684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184682

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

0.0689

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.1%

Validation Efficiency

100% (44/44)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,340,119 (GRCm39)	V1082A	probably damaging	Het
Adamts7	T	A	9: 90,077,883 (GRCm39)	Y1496N	probably damaging	Het
Ascl2	T	C	7: 142,521,996 (GRCm39)	N151D	possibly damaging	Het
Asxl3	G	T	18: 22,649,076 (GRCm39)	S355I	probably benign	Het
Cttnbp2	T	C	6: 18,448,278 (GRCm39)	Q127R	probably damaging	Het
Efhc1	T	A	1: 21,045,187 (GRCm39)	I401N	possibly damaging	Het
Eml6	C	T	11: 29,699,300 (GRCm39)	V1818I	probably benign	Het
Grin1	G	T	2: 25,193,843 (GRCm39)		probably benign	Het
Ints2	C	T	11: 86,140,100 (GRCm39)	R244H	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mllt6	C	A	11: 97,564,775 (GRCm39)	A527E	probably damaging	Het
Msh5	G	T	17: 35,262,759 (GRCm39)		probably benign	Het
Mypn	T	A	10: 62,959,150 (GRCm39)	D1057V	possibly damaging	Het
Nasp	A	G	4: 116,469,167 (GRCm39)		probably null	Het
Nat8l	T	C	5: 34,154,213 (GRCm39)	V9A	probably damaging	Het
Niban1	A	G	1: 151,565,410 (GRCm39)	I247V	probably benign	Het
Nr1h2	G	A	7: 44,201,073 (GRCm39)	A219V	possibly damaging	Het
Nup155	C	A	15: 8,165,354 (GRCm39)	H663Q	probably damaging	Het
Pikfyve	A	G	1: 65,292,566 (GRCm39)	Y1339C	probably damaging	Het
Plppr1	A	T	4: 49,319,974 (GRCm39)	H200L	probably benign	Het
Pxylp1	T	G	9: 96,736,853 (GRCm39)		probably benign	Het
Serpina3a	G	A	12: 104,082,448 (GRCm39)	V74I	probably benign	Het
Sfxn1	T	C	13: 54,239,588 (GRCm39)	I37T	probably benign	Het
Thsd7a	G	T	6: 12,330,951 (GRCm39)	T1397N	possibly damaging	Het
Tnrc6a	T	C	7: 122,785,946 (GRCm39)		probably null	Het
Vmn1r55	A	T	7: 5,149,928 (GRCm39)	M165K	probably benign	Het
Vmn2r58	A	T	7: 41,486,534 (GRCm39)	M787K	probably damaging	Het
Vta1	G	T	10: 14,581,222 (GRCm39)		probably benign	Het
Wdr87-ps	A	G	7: 29,235,080 (GRCm39)		noncoding transcript	Het
Zfp236	A	G	18: 82,709,701 (GRCm39)		probably null	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
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'- ATAAGAAGCATCCGTTCCCC -3'
(R):5'- TTCATACTCCACAGCCACGG -3'

Sequencing Primer
(F):5'- TCTACGAGCTGGCCCAGTAC -3'
(R):5'- TGTGAGCGGGGCTTCAAC -3'

Posted On

2016-06-06