Mutagenetix > Incidental Mutation

Incidental Mutation 'R9398:Por'

710932

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135698894-135764180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135754597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 6 (W6R)

Ref Sequence

ENSEMBL: ENSMUSP00000119138 (fasta)

Gene Model

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

AlphaFold

P37040

Predicted Effect

probably benign
Transcript: ENSMUST00000005651

SMART Domains

Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514

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: ENSMUST00000122113

SMART Domains

Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514

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

unknown
Transcript: ENSMUST00000127096
AA Change: W6R

SMART Domains

Protein: ENSMUSP00000119138
Gene: ENSMUSG00000005514
AA Change: W6R

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: 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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,034,924 (GRCm39)	K228*	probably null	Het
Adrb2	T	C	18: 62,312,276 (GRCm39)	D183G	probably benign	Het
Ap1m2	A	G	9: 21,216,935 (GRCm39)	Y134H	probably damaging	Het
Arid5a	A	G	1: 36,358,073 (GRCm39)	T217A	probably benign	Het
Cdnf	C	T	2: 3,522,075 (GRCm39)	T89I	possibly damaging	Het
Cntnap3	G	A	13: 65,051,648 (GRCm39)	R3W	probably benign	Het
Col6a6	A	G	9: 105,651,825 (GRCm39)	I1062T	probably benign	Het
Ctss	T	C	3: 95,454,258 (GRCm39)	F270S	possibly damaging	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Ddx11	A	G	17: 66,436,912 (GRCm39)	K69E	probably benign	Het
Dgkb	G	A	12: 38,189,657 (GRCm39)	G328D	probably damaging	Het
Dock1	C	T	7: 134,774,228 (GRCm39)	T1852M	probably damaging	Het
Gm19410	T	C	8: 36,272,356 (GRCm39)	Y1346H	probably benign	Het
Gprin1	G	T	13: 54,887,383 (GRCm39)	T297N	probably damaging	Het
Gramd1c	A	G	16: 43,833,381 (GRCm39)	F187S	probably damaging	Het
Gse1	A	G	8: 121,303,074 (GRCm39)	N1072D	unknown	Het
Gtf3c6	G	A	10: 40,133,520 (GRCm39)		probably benign	Het
Hipk3	T	A	2: 104,263,562 (GRCm39)	T897S	probably benign	Het
Igsf21	T	A	4: 139,973,762 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,452,605 (GRCm39)	I757V	probably damaging	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Lzts2	T	G	19: 45,013,208 (GRCm39)	C374W	unknown	Het
Mapk10	A	T	5: 103,061,152 (GRCm39)	S462T	probably damaging	Het
Mtcl1	A	T	17: 66,755,462 (GRCm39)	D293E	possibly damaging	Het
Nf1	T	G	11: 79,438,018 (GRCm39)	H109Q	probably damaging	Het
Nlrp9b	T	C	7: 19,783,435 (GRCm39)	L926P	probably damaging	Het
Notch2	G	A	3: 98,009,668 (GRCm39)	D532N	probably damaging	Het
Olfm4	A	T	14: 80,249,249 (GRCm39)	Y122F	probably benign	Het
Or52e19b	T	A	7: 103,032,487 (GRCm39)	T241S	probably damaging	Het
Or52r1	A	G	7: 102,537,000 (GRCm39)	M120T	probably damaging	Het
Or56a4	A	T	7: 104,806,006 (GRCm39)	Y294*	probably null	Het
Or5g24-ps1	T	C	2: 85,464,367 (GRCm39)	V198A	probably benign	Het
Or5p76	T	C	7: 108,123,035 (GRCm39)	T41A	probably damaging	Het
Or5t18	A	G	2: 86,637,160 (GRCm39)	L61P	possibly damaging	Het
P2rx2	A	T	5: 110,488,138 (GRCm39)	M472K	probably benign	Het
Pbxip1	A	G	3: 89,354,941 (GRCm39)	K487E	probably benign	Het
Plxnb2	A	G	15: 89,045,122 (GRCm39)	V1108A	probably benign	Het
Polq	A	G	16: 36,881,394 (GRCm39)	N1186S	probably benign	Het
Prex2	G	A	1: 11,207,028 (GRCm39)	V529I	probably benign	Het
Rgs6	T	G	12: 82,698,615 (GRCm39)	S5A	probably benign	Het
Rp9	G	T	9: 22,360,082 (GRCm39)	S171*	probably null	Het
Sec11c	T	A	18: 65,942,568 (GRCm39)	I47N	possibly damaging	Het
Sh2b1	GCCACGGGGACCAGCTC	GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC	7: 126,066,756 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GACCAGCTCAGCCACGGG	GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG	7: 126,066,746 (GRCm39)		probably benign	Het
Slco1a8	A	G	6: 141,940,511 (GRCm39)	S137P	possibly damaging	Het
Sorcs1	A	G	19: 50,213,651 (GRCm39)	M692T	possibly damaging	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tcea2	A	G	2: 181,322,243 (GRCm39)	D15G	probably damaging	Het
Tep1	T	C	14: 51,066,429 (GRCm39)	S2344G	possibly damaging	Het
Ttc6	T	A	12: 57,784,404 (GRCm39)	Y1824*	probably null	Het
Ubqln5	T	C	7: 103,777,985 (GRCm39)	T280A	probably benign	Het
Ush1c	T	C	7: 45,869,934 (GRCm39)	R342G	probably benign	Het
Vmn1r185	T	A	7: 26,311,056 (GRCm39)	I150F	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r86	A	G	7: 12,836,261 (GRCm39)	M205T	probably damaging	Het
Vps13d	A	T	4: 144,896,956 (GRCm39)	Y321*	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
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
R9638:Por	UTSW	5	135,754,615 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGGACAGCTTTGTTCTCC -3'
(R):5'- GCAGCCCACAGAAAGGAAGTTC -3'

Sequencing Primer
(F):5'- TTCTCCTAATGGGAAAGGGGG -3'
(R):5'- CCCACAGAAAGGAAGTTCGCTTTTG -3'

Posted On

2022-04-18