Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01453:Por'

84703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Por

Ensembl Gene

ENSMUSG00000005514

Gene Name

cytochrome p450 oxidoreductase

Synonyms

NADH cytochrome P450 oxydoreductase, 4933424M13Rik, CYPOR, CPR

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01453

Quality Score

Status

Chromosome

Chromosomal Location

135698894-135764180 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 135763040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 517 (Q517*)

Ref Sequence

ENSEMBL: ENSMUSP00000112924 (fasta)

Gene Model

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

AlphaFold

P37040

Predicted Effect

probably null
Transcript: ENSMUST00000005651
AA Change: Q517*

SMART Domains

Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: Q517*

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 null
Transcript: ENSMUST00000122113
AA Change: Q517*

SMART Domains

Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: Q517*

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: ENSMUST00000147515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149684

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

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

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,353,834 (GRCm39)	T3719A	probably damaging	Het
Abcb5	A	G	12: 118,831,705 (GRCm39)	S1216P	probably damaging	Het
Abl1	A	G	2: 31,668,989 (GRCm39)	T104A	probably damaging	Het
Adgrg6	A	T	10: 14,296,202 (GRCm39)	M1066K	possibly damaging	Het
Armc1	T	C	3: 19,198,594 (GRCm39)	N122S	probably benign	Het
Fat1	C	T	8: 45,504,307 (GRCm39)	T4600M	probably damaging	Het
Hrh1	T	A	6: 114,458,123 (GRCm39)	I468N	probably damaging	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Macrod2	A	T	2: 140,294,492 (GRCm39)		probably benign	Het
Mfsd9	C	A	1: 40,829,638 (GRCm39)		probably benign	Het
Nap1l1	C	T	10: 111,328,839 (GRCm39)	T256I	probably benign	Het
Or12e1	A	G	2: 87,022,192 (GRCm39)	I54V	probably benign	Het
Or5h22	T	C	16: 58,895,132 (GRCm39)	I104V	probably benign	Het
Or6k4	A	G	1: 173,964,679 (GRCm39)	Y123C	possibly damaging	Het
Pard6a	T	A	8: 106,429,309 (GRCm39)		probably null	Het
Pmm2	G	A	16: 8,466,532 (GRCm39)	R119Q	probably damaging	Het
Ppil6	T	C	10: 41,374,473 (GRCm39)	I118T	probably benign	Het
Psg26	A	G	7: 18,213,999 (GRCm39)	V221A	possibly damaging	Het
Ptpru	C	A	4: 131,496,803 (GRCm39)		probably benign	Het
Rpl27a	T	A	7: 109,118,832 (GRCm39)	V15E	probably benign	Het
Setd1b	T	C	5: 123,296,527 (GRCm39)		probably benign	Het
Slc17a1	A	G	13: 24,058,714 (GRCm39)	N56S	probably damaging	Het
Sybu	A	T	15: 44,536,201 (GRCm39)	D508E	probably damaging	Het
Tada2b	A	C	5: 36,633,686 (GRCm39)	N222K	probably damaging	Het
Tbcb	T	C	7: 29,930,627 (GRCm39)		probably null	Het
Tmprss11f	C	A	5: 86,692,691 (GRCm39)	G78*	probably null	Het
Vmn2r65	T	C	7: 84,589,708 (GRCm39)	Y736C	probably damaging	Het
Zc3h7a	G	A	16: 10,967,242 (GRCm39)	P517S	probably benign	Het
Zfp280d	A	G	9: 72,229,868 (GRCm39)	T392A	possibly damaging	Het
Zfp318	T	A	17: 46,719,942 (GRCm39)		probably null	Het

Other mutations in Por

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-11