Incidental Mutation 'R8356:Ereg'
ID 645764
Institutional Source Beutler Lab
Gene Symbol Ereg
Ensembl Gene ENSMUSG00000029377
Gene Name epiregulin
Synonyms EPR
MMRRC Submission 067870-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R8356 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 91222481-91241505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91237993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 160 (P160S)
Ref Sequence ENSEMBL: ENSMUSP00000031324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031324]
AlphaFold Q61521
Predicted Effect possibly damaging
Transcript: ENSMUST00000031324
AA Change: P160S

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031324
Gene: ENSMUSG00000029377
AA Change: P160S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,842,360 (GRCm39) E1098G probably benign Het
Akap1 T A 11: 88,725,557 (GRCm39) probably null Het
Arhgap26 T C 18: 39,244,901 (GRCm39) V182A possibly damaging Het
Arhgef19 A G 4: 140,977,926 (GRCm39) K545R probably benign Het
Asph C T 4: 9,537,722 (GRCm39) R352Q probably benign Het
B3glct T A 5: 149,650,254 (GRCm39) I119N probably damaging Het
Bltp3b A G 10: 89,647,954 (GRCm39) T1339A probably benign Het
Camsap3 C T 8: 3,650,679 (GRCm39) R236* probably null Het
Ccser2 A T 14: 36,612,331 (GRCm39) M792K probably benign Het
Ceacam5 C T 7: 17,479,624 (GRCm39) T247I possibly damaging Het
Dnah9 A G 11: 66,047,764 (GRCm39) S19P probably damaging Het
Dtwd1 A G 2: 126,000,451 (GRCm39) E129G probably damaging Het
Ebf3 T A 7: 136,800,916 (GRCm39) M490L probably benign Het
Erbb4 A G 1: 68,110,789 (GRCm39) L1008S probably damaging Het
Exoc6b ATTT ATTTT 6: 84,821,077 (GRCm39) probably null Het
Fmn1 A G 2: 113,195,385 (GRCm39) T362A unknown Het
Gm14326 A T 2: 177,590,312 (GRCm39) D16E probably benign Het
H1f8 A T 6: 115,925,745 (GRCm39) M181L probably benign Het
H3c1 A T 13: 23,946,083 (GRCm39) F85Y probably damaging Het
Herc6 A T 6: 57,575,548 (GRCm39) T190S probably benign Het
Lama1 T G 17: 68,044,491 (GRCm39) I130S Het
Letm2 T C 8: 26,071,729 (GRCm39) D391G probably damaging Het
Map3k9 T C 12: 81,780,892 (GRCm39) I423V probably damaging Het
Melk T A 4: 44,312,191 (GRCm39) C168S possibly damaging Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Naa16 A T 14: 79,596,915 (GRCm39) N356K probably benign Het
Nup214 A G 2: 31,929,372 (GRCm39) N1873S probably benign Het
Or2y1f C T 11: 49,184,385 (GRCm39) P79L probably damaging Het
Or8b41 T A 9: 38,054,981 (GRCm39) C178* probably null Het
Pom121 A G 5: 135,410,032 (GRCm39) F1042L unknown Het
Pramel51 T A 12: 88,143,986 (GRCm39) T284S probably benign Het
Pxdn T C 12: 30,061,889 (GRCm39) S1334P probably damaging Het
Ranbp1 C T 16: 18,063,170 (GRCm39) E69K probably damaging Het
Rasl11a T C 5: 146,782,045 (GRCm39) S7P probably damaging Het
Rev1 G A 1: 38,098,324 (GRCm39) R740* probably null Het
Rnf157 C T 11: 116,240,246 (GRCm39) V443M probably benign Het
Scn3a T A 2: 65,291,017 (GRCm39) T1910S probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Siah2 T C 3: 58,583,503 (GRCm39) N261S probably benign Het
Sumf2 T G 5: 129,889,003 (GRCm39) W264G possibly damaging Het
Tal1 G T 4: 114,920,625 (GRCm39) A100S probably benign Het
Tox2 G T 2: 163,046,550 (GRCm39) R9L unknown Het
Traj46 A G 14: 54,409,795 (GRCm39) E1G Het
Unc80 A G 1: 66,680,788 (GRCm39) D2128G possibly damaging Het
Usp21 A T 1: 171,112,290 (GRCm39) F308I probably damaging Het
Vgf A T 5: 137,061,265 (GRCm39) I476F probably damaging Het
Vmn1r142 T A 7: 21,862,748 (GRCm39) H238L probably benign Het
Vps35 G A 8: 85,987,934 (GRCm39) T739I possibly damaging Het
Wdr95 G T 5: 149,502,572 (GRCm39) C279F probably damaging Het
Zbtb32 T C 7: 30,289,381 (GRCm39) S94G unknown Het
Zdhhc13 T A 7: 48,452,747 (GRCm39) I153N 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
R4958:Ereg UTSW 5 91,237,970 (GRCm39) missense probably damaging 1.00
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
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'- TGTCTGGGCATTTTACATAAGCTC -3'
(R):5'- TCTCTCTAAGCACTGCATCAGC -3'

Sequencing Primer
(F):5'- GGCATTTTACATAAGCTCTTGGAGTC -3'
(R):5'- CTCTAAGCACTGCATCAGCTTAATG -3'
Posted On 2020-09-02