Incidental Mutation 'R1755:Por'
ID 194768
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 039787-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1755 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135698894-135764180 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 135758339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 105 (Y105*)
Ref Sequence ENSEMBL: ENSMUSP00000121022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005651] [ENSMUST00000122113] [ENSMUST00000127096] [ENSMUST00000153500] [ENSMUST00000153515]
AlphaFold P37040
Predicted Effect probably null
Transcript: ENSMUST00000005651
AA Change: Y105*
SMART Domains Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: Y105*

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 null
Transcript: ENSMUST00000122113
AA Change: Y105*
SMART Domains Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: Y105*

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 probably null
Transcript: ENSMUST00000127096
AA Change: Y150*
SMART Domains Protein: ENSMUSP00000119138
Gene: ENSMUSG00000005514
AA Change: Y150*

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Flavodoxin_1 127 168 5.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149684
Predicted Effect probably null
Transcript: ENSMUST00000153500
AA Change: Y105*
SMART Domains Protein: ENSMUSP00000121531
Gene: ENSMUSG00000005514
AA Change: Y105*

DomainStartEndE-ValueType
transmembrane domain 22 44 N/A INTRINSIC
Pfam:Flavodoxin_1 82 219 5.9e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000153515
AA Change: Y105*
SMART Domains Protein: ENSMUSP00000121022
Gene: ENSMUSG00000005514
AA Change: Y105*

DomainStartEndE-ValueType
transmembrane domain 22 44 N/A INTRINSIC
Pfam:Flavodoxin_1 82 219 3.2e-41 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G A 8: 88,315,585 (GRCm39) R225H possibly damaging Het
9330159F19Rik A T 10: 29,098,290 (GRCm39) H199L possibly damaging Het
Acaca AC A 11: 84,167,390 (GRCm39) probably null Het
Adam23 G A 1: 63,582,329 (GRCm39) V326M probably damaging Het
Aldh1a2 T A 9: 71,169,023 (GRCm39) Y168* probably null Het
Ano6 A G 15: 95,870,451 (GRCm39) K869E possibly damaging Het
Aplp2 G A 9: 31,088,400 (GRCm39) A106V probably damaging Het
Arhgdib T A 6: 136,906,612 (GRCm39) K30* probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atg7 A G 6: 114,650,638 (GRCm39) T83A possibly damaging Het
Card9 T C 2: 26,249,546 (GRCm39) E5G probably damaging Het
Cars1 A G 7: 143,123,194 (GRCm39) V474A probably damaging Het
Cd300ld2 A G 11: 114,904,601 (GRCm39) F89L probably benign Het
Celf2 T A 2: 6,889,769 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,451,205 (GRCm39) D2174G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cox6b2 A G 7: 4,754,937 (GRCm39) F74S probably damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Ddx3y A G Y: 1,279,543 (GRCm39) I107T probably benign Het
Dnah5 A T 15: 28,326,782 (GRCm39) Y1997F probably damaging Het
Dync2i1 A G 12: 116,189,649 (GRCm39) L620P probably damaging Het
Epha4 A T 1: 77,364,460 (GRCm39) I683N probably damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gmip A G 8: 70,266,774 (GRCm39) I296M probably damaging Het
Gpr37l1 A G 1: 135,094,639 (GRCm39) S202P probably damaging Het
Ifi208 C A 1: 173,505,476 (GRCm39) D75E possibly damaging Het
Il24 T C 1: 130,811,680 (GRCm39) N132S possibly damaging Het
Katnal2 A G 18: 77,099,763 (GRCm39) C124R probably benign Het
Kcnq3 A T 15: 65,867,270 (GRCm39) L791Q probably damaging Het
Kcns3 T A 12: 11,141,445 (GRCm39) D418V probably benign Het
Kif13a A G 13: 46,906,089 (GRCm39) V618A possibly damaging Het
Kif13a A T 13: 46,927,154 (GRCm39) V1179E possibly damaging Het
Lpp A G 16: 24,663,874 (GRCm39) I259V probably benign Het
Mapkapk2 A G 1: 130,986,087 (GRCm39) probably null Het
Marchf7 T C 2: 60,065,265 (GRCm39) S514P probably benign Het
Nr4a2 T A 2: 56,999,104 (GRCm39) L381F probably damaging Het
Nt5dc3 A G 10: 86,660,115 (GRCm39) D328G probably damaging Het
Obox6 T C 7: 15,568,445 (GRCm39) K144E probably damaging Het
Oga A T 19: 45,746,845 (GRCm39) M735K possibly damaging Het
Olfml2b G A 1: 170,509,346 (GRCm39) V565M probably damaging Het
Or1d2 T C 11: 74,255,819 (GRCm39) V108A probably damaging Het
Orc3 G A 4: 34,575,114 (GRCm39) A590V possibly damaging Het
Picalm T C 7: 89,809,757 (GRCm39) S78P possibly damaging Het
Ppara A G 15: 85,682,180 (GRCm39) K292R probably benign Het
Pramel27 T C 4: 143,577,380 (GRCm39) F3S probably damaging Het
Prss59 T G 6: 40,903,096 (GRCm39) Y92S probably damaging Het
Ralgds T A 2: 28,440,558 (GRCm39) I844N probably damaging Het
Rttn T C 18: 89,027,441 (GRCm39) Y519H probably damaging Het
Scn9a A G 2: 66,332,060 (GRCm39) V1261A probably benign Het
Slc2a2 T A 3: 28,767,811 (GRCm39) probably null Het
Slc5a7 T C 17: 54,600,006 (GRCm39) M136V probably benign Het
Smc4 C A 3: 68,941,441 (GRCm39) A1232E probably damaging Het
Smg1 A T 7: 117,802,287 (GRCm39) C270* probably null Het
Sparcl1 C T 5: 104,240,690 (GRCm39) E245K probably benign Het
Taf2 T C 15: 54,879,850 (GRCm39) H1162R probably damaging Het
Tlr3 T C 8: 45,851,010 (GRCm39) D105G probably benign Het
Tmem62 T C 2: 120,814,958 (GRCm39) probably null Het
Triobp G A 15: 78,850,679 (GRCm39) A278T probably benign Het
Ufd1 T G 16: 18,642,003 (GRCm39) C151W probably damaging Het
Upk1b T G 16: 38,600,402 (GRCm39) M193L probably benign Het
Usp15 A G 10: 122,968,949 (GRCm39) M334T probably damaging Het
Utp20 A G 10: 88,645,631 (GRCm39) S541P probably benign Het
Vmn1r61 A T 7: 5,614,302 (GRCm39) L4* probably null Het
Vmn2r96 G A 17: 18,802,915 (GRCm39) G83D possibly damaging Het
Zbtb8a T C 4: 129,248,110 (GRCm39) D387G possibly damaging Het
Zfp106 A T 2: 120,365,656 (GRCm39) N250K probably damaging Het
Zfp292 A G 4: 34,811,043 (GRCm39) V667A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACAGCATCTATGACAGCCAGGAGAG -3'
(R):5'- TTGTGAGGAACAGCATGGGCAC -3'

Sequencing Primer
(F):5'- CCAGGAGAGAGAGGACCCTTAG -3'
(R):5'- AGAAGGGACTCCACTGGC -3'
Posted On 2014-05-23