Incidental Mutation 'R9081:Egln2'
ID 690011
Institutional Source Beutler Lab
Gene Symbol Egln2
Ensembl Gene ENSMUSG00000058709
Gene Name egl-9 family hypoxia-inducible factor 2
Synonyms SM-20, Hif-p4h-1, Ier4, Phd1, 0610011A13Rik
MMRRC Submission 068900-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9081 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 26858083-26866227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26864286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 213 (V213A)
Ref Sequence ENSEMBL: ENSMUSP00000078966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080058] [ENSMUST00000093040] [ENSMUST00000108382] [ENSMUST00000153511] [ENSMUST00000154724]
AlphaFold Q91YE2
Predicted Effect probably benign
Transcript: ENSMUST00000080058
AA Change: V213A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078966
Gene: ENSMUSG00000058709
AA Change: V213A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 64 73 N/A INTRINSIC
Blast:P4Hc 75 136 3e-14 BLAST
low complexity region 154 174 N/A INTRINSIC
P4Hc 201 387 9.71e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093040
SMART Domains Protein: ENSMUSP00000090727
Gene: ENSMUSG00000053291

DomainStartEndE-ValueType
RAB 9 172 2.47e-101 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108382
AA Change: V213A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104019
Gene: ENSMUSG00000058709
AA Change: V213A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 64 73 N/A INTRINSIC
Blast:P4Hc 75 136 3e-14 BLAST
low complexity region 154 174 N/A INTRINSIC
P4Hc 201 387 9.71e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153511
SMART Domains Protein: ENSMUSP00000138477
Gene: ENSMUSG00000053291

DomainStartEndE-ValueType
Pfam:Arf 3 97 1.8e-11 PFAM
Pfam:Miro 10 95 9.5e-15 PFAM
Pfam:Ras 10 95 7.8e-35 PFAM
Pfam:Gtr1_RagA 10 98 4.8e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154724
SMART Domains Protein: ENSMUSP00000122859
Gene: ENSMUSG00000095538

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
SH3 46 112 8.92e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygotes are viable with no apparent abnormalities in cardiovascular, hematopoietic, or placental morphology and development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,502 (GRCm39) V271E probably damaging Het
Abca1 A G 4: 53,109,162 (GRCm39) probably null Het
Abcb11 C T 2: 69,122,388 (GRCm39) C365Y possibly damaging Het
Abcd2 A T 15: 91,075,772 (GRCm39) W14R probably damaging Het
Acmsd A G 1: 127,687,468 (GRCm39) D250G possibly damaging Het
Ahnak T A 19: 8,985,890 (GRCm39) D2391E possibly damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Cbr1 G T 16: 93,406,994 (GRCm39) G237* probably null Het
Cdr2l T A 11: 115,284,939 (GRCm39) V425E probably damaging Het
Chd9 A T 8: 91,704,144 (GRCm39) K693* probably null Het
Clgn T G 8: 84,153,169 (GRCm39) D590E probably damaging Het
Col14a1 T A 15: 55,291,387 (GRCm39) S952T unknown Het
Crip3 T C 17: 46,740,959 (GRCm39) L90P probably benign Het
Dchs1 A G 7: 105,403,636 (GRCm39) S2969P probably benign Het
Dnai2 T A 11: 114,629,493 (GRCm39) D173E probably damaging Het
Dnpep A T 1: 75,291,060 (GRCm39) F257Y probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Eps8 A G 6: 137,504,415 (GRCm39) I106T probably benign Het
Evi5 A G 5: 107,963,571 (GRCm39) F379L probably benign Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fpgs A T 2: 32,577,500 (GRCm39) probably benign Het
Garnl3 T G 2: 32,896,920 (GRCm39) D573A possibly damaging Het
Gja8 A G 3: 96,826,676 (GRCm39) S329P probably damaging Het
Gzf1 T A 2: 148,525,317 (GRCm39) probably benign Het
Hgs T A 11: 120,366,076 (GRCm39) probably benign Het
Ifi203 A G 1: 173,757,048 (GRCm39) I245T unknown Het
Ighv1-74 C A 12: 115,766,454 (GRCm39) W55C probably damaging Het
Iqcb1 A G 16: 36,656,006 (GRCm39) K131R probably null Het
Kit A T 5: 75,801,218 (GRCm39) M539L probably benign Het
Klk1 A G 7: 43,874,952 (GRCm39) probably benign Het
Krt84 C T 15: 101,440,814 (GRCm39) G126D unknown Het
Lama5 A T 2: 179,833,930 (GRCm39) C1473* probably null Het
Loxl3 T C 6: 83,025,638 (GRCm39) V332A possibly damaging Het
Mcf2l T A 8: 13,068,697 (GRCm39) Y1120N probably damaging Het
Meioc G A 11: 102,565,001 (GRCm39) V150M probably benign Het
Mybpc1 T G 10: 88,389,168 (GRCm39) Y400S probably damaging Het
Ncmap T C 4: 135,104,292 (GRCm39) probably benign Het
Noc2l A G 4: 156,326,224 (GRCm39) Y437C probably damaging Het
Nol8 A T 13: 49,814,881 (GRCm39) M330L probably benign Het
Or10d4c A T 9: 39,558,196 (GRCm39) Y58F probably damaging Het
Or5b113 C T 19: 13,342,019 (GRCm39) T9I probably benign Het
P4ha1 T C 10: 59,184,185 (GRCm39) Y216H probably damaging Het
Pamr1 A T 2: 102,441,933 (GRCm39) D174V probably damaging Het
Pdcd1 C T 1: 93,968,880 (GRCm39) probably null Het
Plec A G 15: 76,059,908 (GRCm39) V3343A probably damaging Het
Pnliprp1 A T 19: 58,723,406 (GRCm39) I266F probably benign Het
Poglut2 T A 1: 44,153,966 (GRCm39) Q161L probably benign Het
Ppp1r12b C T 1: 134,705,085 (GRCm39) V868I probably benign Het
Ppp2r2b A T 18: 42,781,825 (GRCm39) H325Q probably benign Het
Rif1 C T 2: 52,000,989 (GRCm39) T1481I probably damaging Het
Rnf213 A T 11: 119,357,062 (GRCm39) D4204V Het
Rps6kl1 T C 12: 85,185,881 (GRCm39) N409S probably damaging Het
Rundc1 T G 11: 101,316,053 (GRCm39) W42G probably damaging Het
Sec1 C T 7: 45,333,987 (GRCm39) probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Shc2 T C 10: 79,462,762 (GRCm39) probably null Het
Slc19a1 T C 10: 76,877,750 (GRCm39) V95A possibly damaging Het
Slc22a5 A T 11: 53,762,447 (GRCm39) D333E probably damaging Het
Specc1 A C 11: 62,010,051 (GRCm39) R522S possibly damaging Het
Syne2 C T 12: 76,016,290 (GRCm39) Q3291* probably null Het
Taar7e G A 10: 23,913,893 (GRCm39) V128I probably benign Het
Tdrd3 A G 14: 87,743,717 (GRCm39) N555S probably benign Het
Themis C T 10: 28,544,582 (GRCm39) probably benign Het
Tjp1 A G 7: 64,964,010 (GRCm39) V945A possibly damaging Het
Tom1 G A 8: 75,778,151 (GRCm39) V78I probably damaging Het
Usp13 A G 3: 32,935,542 (GRCm39) T323A probably benign Het
Usp49 T C 17: 47,984,236 (GRCm39) S414P possibly damaging Het
Vmn1r104 G A 7: 20,268,378 (GRCm39) S206N probably damaging Het
Vps45 A T 3: 95,940,125 (GRCm39) V446E probably benign Het
Wwc1 T C 11: 35,782,331 (GRCm39) K222R probably benign Het
Zc3h13 CAGAGACCGGGACAGAAGGAGAGAC CAGAGAC 14: 75,569,381 (GRCm39) probably benign Het
Other mutations in Egln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Egln2 APN 7 26,859,717 (GRCm39) missense probably null 0.03
IGL01975:Egln2 APN 7 26,859,745 (GRCm39) missense possibly damaging 0.50
IGL02261:Egln2 APN 7 26,859,291 (GRCm39) missense possibly damaging 0.78
R0268:Egln2 UTSW 7 26,864,672 (GRCm39) missense possibly damaging 0.57
R1276:Egln2 UTSW 7 26,864,430 (GRCm39) unclassified probably benign
R1455:Egln2 UTSW 7 26,859,796 (GRCm39) missense probably damaging 1.00
R4569:Egln2 UTSW 7 26,859,008 (GRCm39) missense probably damaging 1.00
R4656:Egln2 UTSW 7 26,858,618 (GRCm39) missense probably benign 0.00
R7201:Egln2 UTSW 7 26,859,744 (GRCm39) missense probably damaging 1.00
R7216:Egln2 UTSW 7 26,859,254 (GRCm39) missense probably damaging 1.00
R7302:Egln2 UTSW 7 26,864,310 (GRCm39) missense probably damaging 0.98
Z1177:Egln2 UTSW 7 26,864,415 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTACCTTGGTGCGCCCATTG -3'
(R):5'- AAAGTGGTATGGGCTGTGAC -3'

Sequencing Primer
(F):5'- ATTACTGCGTCCACGTGAG -3'
(R):5'- TGTGACAGCGGTGCCAG -3'
Posted On 2021-11-19