Incidental Mutation 'R4958:Ereg'
ID 381698
Institutional Source Beutler Lab
Gene Symbol Ereg
Ensembl Gene ENSMUSG00000029377
Gene Name epiregulin
Synonyms EPR
MMRRC Submission 042555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R4958 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 91222481-91241505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91237970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 152 (V152A)
Ref Sequence ENSEMBL: ENSMUSP00000031324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031324]
AlphaFold Q61521
Predicted Effect probably damaging
Transcript: ENSMUST00000031324
AA Change: V152A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031324
Gene: ENSMUSG00000029377
AA Change: V152A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF 60 97 2.9e-2 SMART
transmembrane domain 112 134 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice for one allele develop chronic dermatitis. Homozygous null mice for another allele display increased sensitivity to dextran sulfate sodium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd7 A G 6: 18,866,722 (GRCm39) S81G probably benign Het
Arel1 T C 12: 84,973,078 (GRCm39) K573R possibly damaging Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Atp1a4 T A 1: 172,058,718 (GRCm39) D909V probably damaging Het
Cdh2 T G 18: 16,760,622 (GRCm39) probably null Het
Col6a1 A T 10: 76,559,339 (GRCm39) I99N probably damaging Het
Dennd4c A G 4: 86,699,916 (GRCm39) T256A probably damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Gm4950 T C 18: 51,998,641 (GRCm39) T105A probably benign Het
Hsf2 T C 10: 57,377,467 (GRCm39) I121T probably damaging Het
Kmt2a A T 9: 44,759,764 (GRCm39) L728Q probably damaging Het
Llgl1 G T 11: 60,602,261 (GRCm39) R768L probably benign Het
Lyst A G 13: 13,810,048 (GRCm39) I573V probably benign Het
Macf1 G T 4: 123,369,157 (GRCm39) T303K probably damaging Het
Map3k5 A T 10: 19,899,535 (GRCm39) Q264L possibly damaging Het
Mboat1 T C 13: 30,408,376 (GRCm39) S180P probably damaging Het
Mfsd6 T C 1: 52,700,183 (GRCm39) D655G probably damaging Het
Myh2 A G 11: 67,083,785 (GRCm39) E1521G possibly damaging Het
Nsd2 T A 5: 34,049,366 (GRCm39) S1200R probably damaging Het
Or51k2 T C 7: 103,595,808 (GRCm39) F12L probably damaging Het
Or52n2b T C 7: 104,565,668 (GRCm39) I278M probably damaging Het
Or6z3 G A 7: 6,464,057 (GRCm39) C183Y probably damaging Het
Or8h9 T C 2: 86,789,449 (GRCm39) M118V possibly damaging Het
Pbrm1 T C 14: 30,796,784 (GRCm39) I875T probably damaging Het
Pla2g1b T A 5: 115,608,885 (GRCm39) F26I probably damaging Het
Plscr4 A G 9: 92,366,814 (GRCm39) N143D possibly damaging Het
Rab11fip1 G T 8: 27,644,841 (GRCm39) R315S probably damaging Het
Rptor G A 11: 119,748,217 (GRCm39) R727Q probably benign Het
Serac1 A T 17: 6,119,657 (GRCm39) V91D probably benign Het
Slco1a6 C A 6: 142,091,431 (GRCm39) G90C probably damaging Het
Sulf1 A G 1: 12,867,134 (GRCm39) Y106C probably benign Het
Syt13 G A 2: 92,783,794 (GRCm39) V355M probably damaging Het
Tjp1 G A 7: 64,985,850 (GRCm39) R314* probably null Het
Tshr A G 12: 91,504,961 (GRCm39) D633G probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Znrf4 A G 17: 56,818,701 (GRCm39) F202S probably damaging Het
Zswim8 T A 14: 20,763,533 (GRCm39) W427R probably damaging Het
Other mutations in Ereg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Ereg APN 5 91,222,638 (GRCm39) missense probably benign
IGL01643:Ereg APN 5 91,234,637 (GRCm39) missense probably benign 0.10
IGL01927:Ereg APN 5 91,234,671 (GRCm39) missense probably damaging 1.00
IGL03355:Ereg APN 5 91,236,440 (GRCm39) splice site probably benign
I0000:Ereg UTSW 5 91,237,068 (GRCm39) missense probably benign 0.08
R0245:Ereg UTSW 5 91,222,659 (GRCm39) missense possibly damaging 0.73
R4366:Ereg UTSW 5 91,234,659 (GRCm39) missense probably benign 0.21
R5422:Ereg UTSW 5 91,222,666 (GRCm39) critical splice donor site probably null
R5911:Ereg UTSW 5 91,222,552 (GRCm39) utr 5 prime probably benign
R6838:Ereg UTSW 5 91,236,323 (GRCm39) missense probably benign 0.00
R8356:Ereg UTSW 5 91,237,993 (GRCm39) missense possibly damaging 0.58
R8456:Ereg UTSW 5 91,237,993 (GRCm39) missense possibly damaging 0.58
R8712:Ereg UTSW 5 91,237,013 (GRCm39) missense possibly damaging 0.94
X0009:Ereg UTSW 5 91,237,943 (GRCm39) missense probably benign 0.29
Z1176:Ereg UTSW 5 91,237,979 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CCTAAACGGTTGGACAATGGG -3'
(R):5'- CTCTCTAAGCACTGCATCAGC -3'

Sequencing Primer
(F):5'- GGGACACCGTTCTCTTGC -3'
(R):5'- CTCTAAGCACTGCATCAGCTTAATG -3'
Posted On 2016-04-27