Incidental Mutation 'R2269:Ager'
ID 242360
Institutional Source Beutler Lab
Gene Symbol Ager
Ensembl Gene ENSMUSG00000015452
Gene Name advanced glycosylation end product-specific receptor
Synonyms RAGE
MMRRC Submission 040269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R2269 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34816836-34819910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34818124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 185 (I185F)
Ref Sequence ENSEMBL: ENSMUSP00000134579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015596] [ENSMUST00000015622] [ENSMUST00000038149] [ENSMUST00000174496] [ENSMUST00000173992] [ENSMUST00000174069] [ENSMUST00000173328] [ENSMUST00000174532] [ENSMUST00000183827]
AlphaFold Q62151
Predicted Effect probably benign
Transcript: ENSMUST00000015596
AA Change: I194F

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: I194F

DomainStartEndE-ValueType
IG 23 117 2.44e-7 SMART
Pfam:C2-set_2 123 217 4.3e-24 PFAM
IGc2 248 306 7.63e-18 SMART
transmembrane domain 339 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000015622
SMART Domains Protein: ENSMUSP00000015622
Gene: ENSMUSG00000015478

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
RING 27 67 1.5e-8 SMART
transmembrane domain 118 140 N/A INTRINSIC
transmembrane domain 160 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038149
SMART Domains Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
low complexity region 7 49 N/A INTRINSIC
Pfam:PBC 50 243 1.3e-97 PFAM
HOX 244 309 1.9e-18 SMART
low complexity region 327 353 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172932
SMART Domains Protein: ENSMUSP00000133660
Gene: ENSMUSG00000015452

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174496
AA Change: I194F

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: I194F

DomainStartEndE-ValueType
IG 23 117 2.44e-7 SMART
Pfam:C2-set_2 123 217 3.4e-24 PFAM
IGc2 248 306 7.63e-18 SMART
transmembrane domain 330 352 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173992
AA Change: I185F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: I185F

DomainStartEndE-ValueType
IG 23 108 3.23e-7 SMART
Pfam:C2-set_2 114 208 3.3e-24 PFAM
IGc2 239 297 7.63e-18 SMART
transmembrane domain 321 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174069
AA Change: I194F

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
AA Change: I194F

DomainStartEndE-ValueType
IG 23 117 2.44e-7 SMART
Pfam:C2-set_2 123 217 2.5e-24 PFAM
IGc2 248 306 7.63e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173589
SMART Domains Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174475
Predicted Effect probably benign
Transcript: ENSMUST00000173328
SMART Domains Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
Pfam:PBC 1 161 5e-84 PFAM
HOX 162 227 1.9e-18 SMART
low complexity region 245 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174532
SMART Domains Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
Pfam:PBC 1 148 3.5e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184846
Predicted Effect probably benign
Transcript: ENSMUST00000183827
SMART Domains Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
Pfam:PBC 1 183 9.5e-98 PFAM
HOX 184 249 1.9e-18 SMART
low complexity region 267 293 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (79/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
PHENOTYPE: Homozygotes for a null allele show increased bone mass and strength, reduced osteoclast number, abnormal blood vessel healing, and altered development of nephropathy and pain perception in induced diabetes. Homozygotes for another null allele show restored diabetes-induced angiogenic responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Abca8a A C 11: 109,917,718 (GRCm39) F1574V probably damaging Het
Adh6a A T 3: 138,034,857 (GRCm39) I329L probably benign Het
Agap2 T A 10: 126,918,297 (GRCm39) probably benign Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Arhgef16 T A 4: 154,369,490 (GRCm39) H329L probably damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Banp A G 8: 122,702,662 (GRCm39) T70A probably benign Het
Bcl11b T C 12: 107,881,910 (GRCm39) T802A possibly damaging Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Cflar G A 1: 58,780,206 (GRCm39) probably null Het
Clec16a G A 16: 10,462,650 (GRCm39) R656H probably damaging Het
Cntn1 A G 15: 92,192,863 (GRCm39) probably benign Het
Coasy A G 11: 100,976,708 (GRCm39) T493A probably benign Het
Col16a1 C A 4: 129,946,711 (GRCm39) H111Q probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp3a41b A T 5: 145,514,976 (GRCm39) V83D probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Decr2 C A 17: 26,302,858 (GRCm39) V173L probably benign Het
Defb11 A G 8: 22,395,444 (GRCm39) *78Q probably null Het
Dock3 C A 9: 106,818,525 (GRCm39) V1190F probably damaging Het
Dusp1 A T 17: 26,726,093 (GRCm39) I200N probably damaging Het
Efna1 G A 3: 89,183,646 (GRCm39) A60V possibly damaging Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Epb41 T A 4: 131,691,458 (GRCm39) N623I probably benign Het
Fbxw22 C T 9: 109,213,062 (GRCm39) R295K probably benign Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gbe1 C T 16: 70,233,840 (GRCm39) A239V probably damaging Het
Gpatch3 C T 4: 133,311,118 (GRCm39) A518V possibly damaging Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hnrnpul1 A G 7: 25,450,299 (GRCm39) Y138H probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Klhl31 A G 9: 77,557,440 (GRCm39) D52G possibly damaging Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lrrc43 A T 5: 123,641,354 (GRCm39) T513S probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh5 T C 15: 73,664,997 (GRCm39) N258D probably benign Het
Mrpl28 T C 17: 26,345,285 (GRCm39) V235A probably benign Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or1e23 A G 11: 73,407,309 (GRCm39) S239P probably damaging Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Pkhd1 C T 1: 20,604,759 (GRCm39) probably null Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Pxdn T A 12: 30,055,774 (GRCm39) V1220E probably damaging Het
Robo1 T A 16: 72,775,660 (GRCm39) F728L probably benign Het
Rtel1 G T 2: 180,977,796 (GRCm39) Q292H probably benign Het
Sh3bp4 G A 1: 89,073,314 (GRCm39) V721I possibly damaging Het
Slc2a10 T A 2: 165,356,701 (GRCm39) C120* probably null Het
Srd5a2 T C 17: 74,331,485 (GRCm39) R171G probably damaging Het
Srsf4 T C 4: 131,624,993 (GRCm39) V130A probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbx1 T C 16: 18,400,744 (GRCm39) probably null Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tmem252 T C 19: 24,651,455 (GRCm39) I8T probably benign Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r107 T C 17: 20,595,817 (GRCm39) I790T possibly damaging Het
Vmn2r77 T C 7: 86,460,897 (GRCm39) V741A probably benign Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Ylpm1 T A 12: 85,061,824 (GRCm39) V575E unknown Het
Zbp1 T A 2: 173,060,616 (GRCm39) probably benign Het
Zfp280d C A 9: 72,209,052 (GRCm39) probably benign Het
Zkscan5 A G 5: 145,142,277 (GRCm39) Y58C probably damaging Het
Other mutations in Ager
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01808:Ager APN 17 34,818,431 (GRCm39) missense probably damaging 0.97
IGL02143:Ager APN 17 34,818,092 (GRCm39) missense probably damaging 1.00
IGL02219:Ager APN 17 34,819,094 (GRCm39) missense probably damaging 0.97
R1337:Ager UTSW 17 34,819,596 (GRCm39) critical splice donor site probably null
R1584:Ager UTSW 17 34,819,692 (GRCm39) missense probably damaging 1.00
R5804:Ager UTSW 17 34,817,157 (GRCm39) missense probably damaging 0.98
R5881:Ager UTSW 17 34,819,051 (GRCm39) missense probably damaging 1.00
R5939:Ager UTSW 17 34,817,175 (GRCm39) missense probably damaging 1.00
R6276:Ager UTSW 17 34,817,728 (GRCm39) missense possibly damaging 0.86
R6551:Ager UTSW 17 34,818,442 (GRCm39) splice site probably null
R7009:Ager UTSW 17 34,819,710 (GRCm39) missense probably damaging 1.00
R8212:Ager UTSW 17 34,819,586 (GRCm39) missense possibly damaging 0.71
R8843:Ager UTSW 17 34,819,716 (GRCm39) missense probably benign 0.03
R9025:Ager UTSW 17 34,819,594 (GRCm39) missense probably damaging 1.00
R9089:Ager UTSW 17 34,819,579 (GRCm39) missense probably benign 0.09
R9237:Ager UTSW 17 34,816,869 (GRCm39) start codon destroyed probably null 0.92
R9357:Ager UTSW 17 34,817,541 (GRCm39) missense probably damaging 0.98
R9665:Ager UTSW 17 34,819,090 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- GACCCTTAGCTGGCACTTAG -3'
(R):5'- CAGGCATGAAGTCCATCAGG -3'

Sequencing Primer
(F):5'- TCTGATTCCCGATGGCAAAG -3'
(R):5'- TGGGATTGACTCTTGCC -3'
Posted On 2014-10-16