Incidental Mutation 'IGL02250:Areg'
ID 286360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Areg
Ensembl Gene ENSMUSG00000029378
Gene Name amphiregulin
Synonyms Mcub, Sdgf, AR
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02250
Quality Score
Status
Chromosome 5
Chromosomal Location 91287458-91296291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91288967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 91 (I91K)
Ref Sequence ENSEMBL: ENSMUSP00000031325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031325]
AlphaFold P31955
Predicted Effect possibly damaging
Transcript: ENSMUST00000031325
AA Change: I91K

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031325
Gene: ENSMUSG00000029378
AA Change: I91K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
EGF 138 175 7.41e0 SMART
transmembrane domain 193 215 N/A INTRINSIC
low complexity region 222 240 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the epidermal growth factor (EGF) family and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and has been shown to play a role in immunity, inflammation, tissue repair, and lung and mammary gland development. Homozygous knockout mice for this gene exhibit impaired immune system regulation in the skin and gene expression changes characteristic of chronic liver damage. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired development of mammary gland ducts in pubescent females. Mutant ducts show retarded elongation with few terminal end buds. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T A 7: 28,329,135 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Arf1 G A 11: 59,103,993 (GRCm39) R79C probably benign Het
Bbs2 A T 8: 94,819,054 (GRCm39) I105N probably benign Het
Ccdc158 A T 5: 92,756,337 (GRCm39) I1090N probably damaging Het
Ccdc90b T A 7: 92,223,823 (GRCm39) probably benign Het
Cep57 A T 9: 13,721,939 (GRCm39) F221I probably damaging Het
Ckap5 C T 2: 91,379,246 (GRCm39) A62V probably damaging Het
Cntn5 G A 9: 10,145,336 (GRCm39) R125C probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cxxc1 T A 18: 74,352,240 (GRCm39) D321E probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dnm1l A G 16: 16,139,550 (GRCm39) probably benign Het
Eif2d T A 1: 131,088,166 (GRCm39) S184T probably benign Het
Emcn T A 3: 137,124,747 (GRCm39) probably benign Het
Fry A T 5: 150,326,899 (GRCm39) probably benign Het
Gas2 T A 7: 51,537,786 (GRCm39) M37K probably damaging Het
Habp2 A G 19: 56,297,361 (GRCm39) S100G probably benign Het
Kcnj5 A G 9: 32,229,052 (GRCm39) C49R probably damaging Het
Lhx2 T A 2: 38,244,845 (GRCm39) D236E probably benign Het
Megf8 T A 7: 25,042,000 (GRCm39) S1273T probably benign Het
Mrps2 T C 2: 28,359,557 (GRCm39) I138T possibly damaging Het
Mta1 T C 12: 113,090,418 (GRCm39) S175P possibly damaging Het
Npat T A 9: 53,460,251 (GRCm39) Y66* probably null Het
Nup160 A G 2: 90,539,214 (GRCm39) R798G probably damaging Het
Or52n2c T C 7: 104,574,222 (GRCm39) I250V probably damaging Het
Or8b54 C A 9: 38,686,850 (GRCm39) Q100K probably damaging Het
Plxnc1 C T 10: 94,706,893 (GRCm39) G548E probably benign Het
Radil A G 5: 142,529,529 (GRCm39) S56P probably damaging Het
Rpgrip1l A T 8: 91,959,489 (GRCm39) M1137K probably benign Het
Serpina1c T G 12: 103,863,487 (GRCm39) M238L probably benign Het
Tbc1d14 A G 5: 36,728,863 (GRCm39) S168P probably damaging Het
Tmem209 A G 6: 30,487,387 (GRCm39) S498P probably damaging Het
Utrn A G 10: 12,312,135 (GRCm39) Y607H probably damaging Het
Vipr1 A G 9: 121,494,255 (GRCm39) I279V probably benign Het
Vmn2r67 T G 7: 84,805,008 (GRCm39) N35H probably benign Het
Xirp2 C T 2: 67,344,356 (GRCm39) T2199I probably benign Het
Zfp423 A G 8: 88,509,883 (GRCm39) S86P probably damaging Het
Zfp831 A G 2: 174,489,994 (GRCm39) K1254E possibly damaging Het
Zfp873 T A 10: 81,894,252 (GRCm39) M1K probably null Het
Other mutations in Areg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Areg APN 5 91,288,954 (GRCm39) missense probably damaging 0.99
IGL01929:Areg APN 5 91,292,312 (GRCm39) missense probably benign
IGL01971:Areg APN 5 91,288,870 (GRCm39) missense probably benign 0.03
R1436:Areg UTSW 5 91,287,664 (GRCm39) start gained probably benign
R1674:Areg UTSW 5 91,291,485 (GRCm39) missense probably damaging 0.96
R1699:Areg UTSW 5 91,291,357 (GRCm39) missense probably damaging 1.00
R4239:Areg UTSW 5 91,291,375 (GRCm39) missense probably damaging 1.00
R4240:Areg UTSW 5 91,291,375 (GRCm39) missense probably damaging 1.00
R4613:Areg UTSW 5 91,291,363 (GRCm39) missense probably benign 0.34
R4738:Areg UTSW 5 91,294,583 (GRCm39) missense possibly damaging 0.91
R5040:Areg UTSW 5 91,292,198 (GRCm39) missense possibly damaging 0.94
R5305:Areg UTSW 5 91,292,308 (GRCm39) missense probably damaging 1.00
R5987:Areg UTSW 5 91,294,577 (GRCm39) missense possibly damaging 0.83
R6075:Areg UTSW 5 91,291,456 (GRCm39) missense probably damaging 0.99
R7210:Areg UTSW 5 91,288,764 (GRCm39) nonsense probably null
R8165:Areg UTSW 5 91,291,492 (GRCm39) missense probably damaging 0.97
R9054:Areg UTSW 5 91,292,217 (GRCm39) missense probably damaging 1.00
R9498:Areg UTSW 5 91,294,553 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16