Incidental Mutation 'R6075:Areg'
ID 482693
Institutional Source Beutler Lab
Gene Symbol Areg
Ensembl Gene ENSMUSG00000029378
Gene Name amphiregulin
Synonyms Mcub, Sdgf, AR
MMRRC Submission 044236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6075 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 91287458-91296291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91291456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 133 (K133M)
Ref Sequence ENSEMBL: ENSMUSP00000031325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031325]
AlphaFold P31955
Predicted Effect probably damaging
Transcript: ENSMUST00000031325
AA Change: K133M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031325
Gene: ENSMUSG00000029378
AA Change: K133M

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atxn2l A T 7: 126,091,689 (GRCm39) D1076E possibly damaging Het
Barhl1 T C 2: 28,805,231 (GRCm39) Y154C probably damaging Het
BC048507 A G 13: 68,011,823 (GRCm39) T67A probably benign Het
Cacna1g T A 11: 94,307,491 (GRCm39) I1746F probably damaging Het
Ccdc34 T C 2: 109,874,580 (GRCm39) I313T possibly damaging Het
Cma1 T A 14: 56,179,771 (GRCm39) I138F probably damaging Het
Col5a2 A G 1: 45,542,008 (GRCm39) S23P unknown Het
Csmd2 C A 4: 128,380,658 (GRCm39) S2071R probably benign Het
Cyp2j11 T G 4: 96,233,322 (GRCm39) N125H probably benign Het
Dchs2 A G 3: 83,262,368 (GRCm39) R2879G possibly damaging Het
Dnah11 A T 12: 118,068,586 (GRCm39) C1591S probably damaging Het
Dock9 C T 14: 121,783,385 (GRCm39) R2038H probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo21 G A 5: 118,126,948 (GRCm39) R233H probably damaging Het
Firrm T C 1: 163,805,656 (GRCm39) Y316C probably damaging Het
Gm6526 A G 14: 43,986,331 (GRCm39) I86V probably damaging Het
Gpr107 T A 2: 31,042,384 (GRCm39) V5E probably benign Het
Hat1 A T 2: 71,240,585 (GRCm39) D93V probably benign Het
Kctd21 T A 7: 96,996,614 (GRCm39) L29Q probably damaging Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Lsamp A G 16: 41,954,788 (GRCm39) K229E probably benign Het
Mcm5 A G 8: 75,840,825 (GRCm39) D210G probably damaging Het
Mdn1 T C 4: 32,689,581 (GRCm39) V930A possibly damaging Het
Megf6 T A 4: 154,347,056 (GRCm39) C652* probably null Het
Nae1 A T 8: 105,251,001 (GRCm39) L196H possibly damaging Het
Ncor1 G T 11: 62,208,675 (GRCm39) D156E probably damaging Het
Nop14 A T 5: 34,817,235 (GRCm39) V52E probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Parp14 A T 16: 35,677,389 (GRCm39) C860S probably damaging Het
Ptpn4 T C 1: 119,692,866 (GRCm39) Y161C probably damaging Het
Ptpn9 T A 9: 56,968,430 (GRCm39) M590K probably benign Het
Ptprq A G 10: 107,361,621 (GRCm39) I2130T probably damaging Het
Pudp C A 18: 50,701,299 (GRCm39) G145W probably damaging Het
Pxk A G 14: 8,150,964 (GRCm38) K423R probably benign Het
Ryr1 A G 7: 28,786,863 (GRCm39) S1584P probably damaging Het
Scap G A 9: 110,207,845 (GRCm39) R518H probably damaging Het
Slc5a12 T C 2: 110,447,092 (GRCm39) L200P probably damaging Het
Sntg1 T A 1: 8,749,338 (GRCm39) *72Y probably null Het
Speer4f1 A C 5: 17,684,482 (GRCm39) Q170P possibly damaging Het
Taar7d A C 10: 23,903,558 (GRCm39) I147L probably benign Het
Tet2 T C 3: 133,177,196 (GRCm39) K1284E possibly damaging Het
Trpm2 A C 10: 77,770,877 (GRCm39) probably null Het
Washc2 T A 6: 116,204,327 (GRCm39) S412T probably benign Het
Zfyve26 A G 12: 79,340,628 (GRCm39) V82A possibly damaging 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
IGL02250:Areg APN 5 91,288,967 (GRCm39) missense possibly damaging 0.83
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
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
Predicted Primers PCR Primer
(F):5'- CCAAAGTAGCTCTCAGTGCTG -3'
(R):5'- TCCTTGGTTTACACACTGGAAAAG -3'

Posted On 2017-07-14