Incidental Mutation 'R5580:Por'
ID 438377
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 043134-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5580 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135698894-135764180 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135762675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 430 (I430F)
Ref Sequence ENSEMBL: ENSMUSP00000112924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005651] [ENSMUST00000043378] [ENSMUST00000122113] [ENSMUST00000127096] [ENSMUST00000153515] [ENSMUST00000153500] [ENSMUST00000153399]
AlphaFold P37040
Predicted Effect possibly damaging
Transcript: ENSMUST00000005651
AA Change: I430F

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: I430F

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: ENSMUST00000043378
SMART Domains Protein: ENSMUSP00000045252
Gene: ENSMUSG00000039886

DomainStartEndE-ValueType
Pfam:TMPIT 13 336 4.2e-159 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122113
AA Change: I430F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: I430F

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 benign
Transcript: ENSMUST00000127096
SMART Domains Protein: ENSMUSP00000119138
Gene: ENSMUSG00000005514

DomainStartEndE-ValueType
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: ENSMUST00000147515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199952
Predicted Effect probably benign
Transcript: ENSMUST00000153515
SMART Domains Protein: ENSMUSP00000121022
Gene: ENSMUSG00000005514

DomainStartEndE-ValueType
transmembrane domain 22 44 N/A INTRINSIC
Pfam:Flavodoxin_1 82 219 3.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153500
SMART Domains Protein: ENSMUSP00000121531
Gene: ENSMUSG00000005514

DomainStartEndE-ValueType
transmembrane domain 22 44 N/A INTRINSIC
Pfam:Flavodoxin_1 82 219 5.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153399
SMART Domains Protein: ENSMUSP00000120834
Gene: ENSMUSG00000039886

DomainStartEndE-ValueType
Pfam:TMPIT 12 93 9e-23 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik A G 7: 43,900,664 (GRCm39) T73A possibly damaging Het
A1bg A T 15: 60,790,881 (GRCm39) V365E probably benign Het
Abcg5 A C 17: 84,967,582 (GRCm39) V406G probably damaging Het
Adamts12 A G 15: 11,152,086 (GRCm39) Y192C probably benign Het
Add3 C T 19: 53,233,642 (GRCm39) S649L probably damaging Het
Adgrg6 A T 10: 14,286,228 (GRCm39) C1129* probably null Het
Arsb T A 13: 93,944,053 (GRCm39) V248D probably damaging Het
AW554918 A T 18: 25,472,922 (GRCm39) N39I probably damaging Het
Cacna1b A T 2: 24,540,566 (GRCm39) I1383N probably damaging Het
Caprin2 A T 6: 148,760,232 (GRCm39) V625D possibly damaging Het
Cd9 A G 6: 125,441,420 (GRCm39) L67P probably damaging Het
Cdh5 T A 8: 104,852,126 (GRCm39) Y80* probably null Het
Csf2ra A G 19: 61,214,655 (GRCm39) L223P probably damaging Het
Cyp2c67 T C 19: 39,604,094 (GRCm39) K421E probably damaging Het
Dzank1 T C 2: 144,348,098 (GRCm39) R223G probably damaging Het
Emilin2 A G 17: 71,582,225 (GRCm39) V167A probably benign Het
Eps8l3 A G 3: 107,788,919 (GRCm39) T81A probably damaging Het
Esrra T C 19: 6,897,755 (GRCm39) M1V probably null Het
Evpl C A 11: 116,125,058 (GRCm39) A135S probably benign Het
Fam193a A G 5: 34,578,132 (GRCm39) I209V probably benign Het
Fbxl19 C A 7: 127,350,168 (GRCm39) C253* probably null Het
Fer1l5 T A 1: 36,424,539 (GRCm39) Y305* probably null Het
Fzd2 A C 11: 102,496,665 (GRCm39) I370L probably damaging Het
Gnl3 T C 14: 30,737,242 (GRCm39) K212R probably benign Het
Golm1 A G 13: 59,790,179 (GRCm39) L207P probably benign Het
Gphn T A 12: 78,538,818 (GRCm39) F155I probably damaging Het
Grhl1 G A 12: 24,659,739 (GRCm39) G500S probably benign Het
Gucd1 C A 10: 75,346,968 (GRCm39) G55V possibly damaging Het
Haus6 A T 4: 86,517,503 (GRCm39) I287K possibly damaging Het
Hmcn1 G A 1: 150,453,290 (GRCm39) P5342S probably benign Het
Hspa12a A G 19: 58,788,092 (GRCm39) S577P probably benign Het
Ido2 T A 8: 25,040,882 (GRCm39) I113F possibly damaging Het
Ifrd2 C T 9: 107,469,511 (GRCm39) P396S probably damaging Het
Igkv4-86 T A 6: 68,887,990 (GRCm39) probably benign Het
Ipo11 A G 13: 107,037,255 (GRCm39) V196A probably benign Het
Itih2 T C 2: 10,128,287 (GRCm39) E138G probably damaging Het
Kidins220 T G 12: 25,097,896 (GRCm39) C1179G probably benign Het
Kif20b T A 19: 34,927,128 (GRCm39) probably null Het
Klk1 T A 7: 43,878,238 (GRCm39) Y63N probably benign Het
L3mbtl3 T G 10: 26,179,604 (GRCm39) D517A unknown Het
Lars1 G T 18: 42,347,916 (GRCm39) P969H probably damaging Het
Lrp1 C T 10: 127,424,389 (GRCm39) V766I probably benign Het
Lrrc8c A G 5: 105,755,553 (GRCm39) I443V probably benign Het
Lsg1 T C 16: 30,387,985 (GRCm39) M439V probably null Het
Magi2 T A 5: 20,420,422 (GRCm39) M286K probably benign Het
Med11 T C 11: 70,342,891 (GRCm39) probably null Het
Med13l A G 5: 118,889,695 (GRCm39) K1819E possibly damaging Het
Ms4a14 T A 19: 11,280,590 (GRCm39) Q656L probably benign Het
Muc5b A G 7: 141,415,084 (GRCm39) T2677A possibly damaging Het
Myo7a A T 7: 97,722,367 (GRCm39) L1186H probably damaging Het
Naca C A 10: 127,876,462 (GRCm39) probably benign Het
Nbeal1 T C 1: 60,281,761 (GRCm39) I828T probably benign Het
Ncor1 A T 11: 62,280,604 (GRCm39) C75* probably null Het
Nepn A C 10: 52,280,398 (GRCm39) S497R probably damaging Het
Nf2 A G 11: 4,753,689 (GRCm39) F222L probably damaging Het
Nlrp9b A C 7: 19,757,089 (GRCm39) T109P probably damaging Het
Nr1h4 A T 10: 89,352,302 (GRCm39) F22I probably benign Het
Ogg1 A G 6: 113,306,337 (GRCm39) Y178C probably damaging Het
Or1e22 G T 11: 73,377,036 (GRCm39) P205T probably benign Het
Or4b12 C A 2: 90,096,694 (GRCm39) V27L probably benign Het
Or5b119 T A 19: 13,456,791 (GRCm39) Y257F probably damaging Het
Or5b21 G A 19: 12,839,168 (GRCm39) V10M possibly damaging Het
Or5d14 A T 2: 87,880,668 (GRCm39) M100K possibly damaging Het
Osr1 G A 12: 9,629,325 (GRCm39) R66Q probably damaging Het
Pi4ka A G 16: 17,098,951 (GRCm39) S1978P probably damaging Het
Pik3c2g A T 6: 139,603,531 (GRCm39) Q239L probably damaging Het
Pin1rt1 A G 2: 104,544,670 (GRCm39) I154T probably damaging Het
Pkdcc A G 17: 83,527,511 (GRCm39) T230A probably damaging Het
Prb1c T C 6: 132,338,432 (GRCm39) N262S unknown Het
Prkcsh T A 9: 21,922,551 (GRCm39) probably null Het
Pros1 A G 16: 62,746,689 (GRCm39) probably null Het
Pus10 T A 11: 23,622,556 (GRCm39) L59I probably benign Het
Pxmp2 A G 5: 110,431,542 (GRCm39) V67A possibly damaging Het
Rab3gap1 C A 1: 127,858,727 (GRCm39) A612E probably benign Het
Rpap2 A G 5: 107,768,011 (GRCm39) E206G probably benign Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Ryr3 C T 2: 112,672,293 (GRCm39) G1393R probably damaging Het
Scara5 T C 14: 65,968,528 (GRCm39) M267T probably benign Het
Sema5a A T 15: 32,575,031 (GRCm39) I380F probably benign Het
Slc36a3 A G 11: 55,026,279 (GRCm39) S180P probably benign Het
Slc44a5 A G 3: 153,966,922 (GRCm39) K536R probably benign Het
Smg1 T C 7: 117,748,125 (GRCm39) probably benign Het
Spata31d1e A T 13: 59,890,070 (GRCm39) D583E probably benign Het
Strc T C 2: 121,205,493 (GRCm39) K879R probably damaging Het
Swt1 T C 1: 151,260,206 (GRCm39) E731G probably benign Het
Syngap1 G A 17: 27,181,305 (GRCm39) A9T probably damaging Het
Tex15 C T 8: 34,062,457 (GRCm39) T903I probably damaging Het
Tg A G 15: 66,557,149 (GRCm39) I937V possibly damaging Het
Tm9sf4 T C 2: 153,024,350 (GRCm39) Y58H probably damaging Het
Tsen2 A T 6: 115,554,941 (GRCm39) D458V probably damaging Het
Ttn T A 2: 76,748,146 (GRCm39) D4301V probably benign Het
Txk C A 5: 72,864,932 (GRCm39) L314F probably damaging Het
Ube3b A G 5: 114,553,384 (GRCm39) T919A probably benign Het
Ubn2 A G 6: 38,460,187 (GRCm39) M641V probably damaging Het
Usp4 C T 9: 108,243,058 (GRCm39) T242I probably benign Het
Usp53 A G 3: 122,727,883 (GRCm39) S900P probably benign Het
Vmn1r225 T C 17: 20,723,101 (GRCm39) Y181H probably damaging Het
Vmn1r83 T A 7: 12,055,800 (GRCm39) I86L probably benign Het
Vmn2r65 T C 7: 84,596,802 (GRCm39) I84M probably damaging Het
Vstm2b A G 7: 40,552,050 (GRCm39) H126R probably damaging Het
Zfp524 A T 7: 5,021,416 (GRCm39) I315F probably benign Het
Zfp975 A T 7: 42,314,513 (GRCm39) L20* probably null 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
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
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'- AACACCTGCACAAGATGGCG -3'
(R):5'- GACTTCGCTTCATACTCCACAG -3'

Sequencing Primer
(F):5'- TGCACAAGATGGCGTCCTC -3'
(R):5'- TGTGAGCGGGGCTTCAAC -3'
Posted On 2016-10-26