Incidental Mutation 'R4282:Por'
ID 322937
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 041650-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4282 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 135698894-135764180 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 135744815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 26 (T26K)
Ref Sequence ENSEMBL: ENSMUSP00000121022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005651] [ENSMUST00000122113] [ENSMUST00000153500] [ENSMUST00000153515]
AlphaFold P37040
Predicted Effect probably benign
Transcript: ENSMUST00000005651
AA Change: T26K

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: T26K

DomainStartEndE-ValueType
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
AA Change: T26K

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: T26K

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000147515
Predicted Effect probably benign
Transcript: ENSMUST00000153500
AA Change: T26K

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121531
Gene: ENSMUSG00000005514
AA Change: T26K

DomainStartEndE-ValueType
transmembrane domain 22 44 N/A INTRINSIC
Pfam:Flavodoxin_1 82 219 5.9e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153515
AA Change: T26K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121022
Gene: ENSMUSG00000005514
AA Change: T26K

DomainStartEndE-ValueType
transmembrane domain 22 44 N/A INTRINSIC
Pfam:Flavodoxin_1 82 219 3.2e-41 PFAM
Meta Mutation Damage Score 0.3184 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G probably damaging Het
Other mutations in Por
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACCCTCACTCTGAAGCGTTC -3'
(R):5'- CAGGAAGCTGGCTCCTTATGTC -3'

Sequencing Primer
(F):5'- AGCGTTCAGATGGGCAC -3'
(R):5'- CACCTTGGGGAACAGTGTG -3'
Posted On 2015-06-20