Incidental Mutation 'R4665:Adgre1'
ID 351870
Institutional Source Beutler Lab
Gene Symbol Adgre1
Ensembl Gene ENSMUSG00000004730
Gene Name adhesion G protein-coupled receptor E1
Synonyms DD7A5-7, EGF-TM7, Emr1, Ly71, F4/80, TM7LN3
MMRRC Submission 041923-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R4665 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57665691-57790527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57787947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 905 (T905A)
Ref Sequence ENSEMBL: ENSMUSP00000083971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004850] [ENSMUST00000086763]
AlphaFold Q61549
Predicted Effect probably benign
Transcript: ENSMUST00000004850
AA Change: T905A

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: T905A

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
EGF 35 80 1.43e-1 SMART
EGF_CA 81 122 3.59e-7 SMART
EGF_CA 133 172 4.56e-9 SMART
EGF_CA 173 221 1.29e-8 SMART
EGF_CA 222 271 2.31e-10 SMART
EGF_CA 272 318 1.06e-9 SMART
EGF_CA 319 367 1.18e-7 SMART
GPS 591 641 2.57e-19 SMART
Pfam:7tm_2 644 885 2.1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086763
AA Change: T905A

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: T905A

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
EGF 35 80 1.43e-1 SMART
EGF_CA 81 122 3.59e-7 SMART
EGF_CA 133 172 4.56e-9 SMART
EGF_CA 173 221 1.29e-8 SMART
EGF_CA 222 271 2.31e-10 SMART
EGF_CA 272 318 1.06e-9 SMART
EGF_CA 319 367 1.18e-7 SMART
GPS 591 641 2.57e-19 SMART
Pfam:7tm_2 644 885 2.1e-63 PFAM
Meta Mutation Damage Score 0.1583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (89/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice fail to develop peripheral tolerance after inoculation with antigen because of a lack of efferent regulatory T cell development. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(3) Chemically induced(1)

Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,902,059 (GRCm39) M76K probably null Het
Abcc4 A G 14: 118,766,414 (GRCm39) I886T probably benign Het
Adam6a T C 12: 113,507,992 (GRCm39) Y122H possibly damaging Het
Arap2 A G 5: 62,827,312 (GRCm39) F969L possibly damaging Het
Arhgef4 G T 1: 34,845,113 (GRCm39) G1439V possibly damaging Het
Atm A G 9: 53,375,529 (GRCm39) W2097R probably benign Het
Atmin A G 8: 117,684,698 (GRCm39) D786G probably damaging Het
AU016765 T A 17: 64,826,916 (GRCm39) noncoding transcript Het
Capn1 A T 19: 6,061,045 (GRCm39) N253K probably benign Het
Cdc42bpa A G 1: 179,972,130 (GRCm39) T527A probably damaging Het
Chmp7 A T 14: 69,958,404 (GRCm39) V255D probably damaging Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Cpsf2 T C 12: 101,949,466 (GRCm39) S61P probably damaging Het
Cpvl C T 6: 53,908,918 (GRCm39) E282K probably benign Het
Crygn T A 5: 24,956,019 (GRCm39) probably benign Het
Csde1 C T 3: 102,954,388 (GRCm39) T386M probably damaging Het
Cux1 G A 5: 136,315,653 (GRCm39) T1129I probably damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dhx16 T C 17: 36,190,835 (GRCm39) V11A probably damaging Het
Dnah10 T C 5: 124,905,536 (GRCm39) M4060T possibly damaging Het
Duox1 C T 2: 122,149,956 (GRCm39) P116S probably benign Het
Eif5b A G 1: 38,084,793 (GRCm39) E880G probably damaging Het
Eml6 A T 11: 29,769,007 (GRCm39) Y67* probably null Het
Faim2 C A 15: 99,422,581 (GRCm39) probably null Het
Faim2 T G 15: 99,422,582 (GRCm39) S72R probably benign Het
Fanca T C 8: 123,995,711 (GRCm39) T1364A probably damaging Het
Fhip1a A T 3: 85,637,988 (GRCm39) W104R probably damaging Het
Gak A G 5: 108,730,826 (GRCm39) I860T probably benign Het
Garem2 C A 5: 30,319,665 (GRCm39) R376S probably damaging Het
Gdf2 A G 14: 33,667,408 (GRCm39) T377A probably damaging Het
Gm2431 A T 7: 141,811,440 (GRCm39) C155S unknown Het
Gm5814 A G 17: 47,721,288 (GRCm39) M1V probably null Het
Gm5901 C G 7: 105,026,438 (GRCm39) Q69E possibly damaging Het
Gm9945 A G 11: 53,371,202 (GRCm39) probably benign Het
Gmps T C 3: 63,908,956 (GRCm39) V486A probably benign Het
Gtf2ird1 T A 5: 134,412,756 (GRCm39) E55V probably damaging Het
Hoxa11 T A 6: 52,220,483 (GRCm39) N267Y probably damaging Het
Ifngr2 C A 16: 91,356,926 (GRCm39) H153Q possibly damaging Het
Ift172 G T 5: 31,442,598 (GRCm39) Q190K possibly damaging Het
Iqch A G 9: 63,352,853 (GRCm39) V899A probably damaging Het
Lactb2 T C 1: 13,717,624 (GRCm39) E133G probably damaging Het
Lig3 G A 11: 82,691,076 (GRCm39) V110M probably damaging Het
Lin54 C A 5: 100,600,943 (GRCm39) Q262H possibly damaging Het
Lingo3 G A 10: 80,671,372 (GRCm39) T186I probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Ly86 T A 13: 37,559,010 (GRCm39) F70I probably damaging Het
Mospd2 A T X: 163,730,329 (GRCm39) S301T probably benign Het
Mroh2a A C 1: 88,169,340 (GRCm39) I672L probably benign Het
Myo15a A T 11: 60,395,705 (GRCm39) probably null Het
Nme8 C G 13: 19,858,605 (GRCm39) A78P probably damaging Het
Obscn C T 11: 59,015,578 (GRCm39) V965M probably damaging Het
Or10ag57 T A 2: 87,218,220 (GRCm39) I57K probably damaging Het
Parn T C 16: 13,358,967 (GRCm39) K592E probably benign Het
Pax6 C A 2: 105,514,343 (GRCm39) probably benign Het
Pdcd6 A T 13: 74,465,325 (GRCm39) M1K probably null Het
Pex11b T C 3: 96,551,151 (GRCm39) L198P possibly damaging Het
Phldb3 C T 7: 24,310,852 (GRCm39) A28V probably benign Het
Pkn3 C A 2: 29,975,469 (GRCm39) probably benign Het
Pknox1 T C 17: 31,814,300 (GRCm39) probably null Het
Ptprg A C 14: 12,215,288 (GRCm38) I1092L possibly damaging Het
Pxylp1 A C 9: 96,707,338 (GRCm39) I281M probably damaging Het
Ramac C T 7: 81,418,178 (GRCm39) R78W probably damaging Het
Retreg2 G T 1: 75,121,310 (GRCm39) L195F probably damaging Het
Rgs20 G C 1: 5,091,231 (GRCm39) F66L probably benign Het
Ripk4 C T 16: 97,556,273 (GRCm39) V157I probably damaging Het
Ryr2 T C 13: 11,765,571 (GRCm39) probably null Het
Scaper A T 9: 55,819,339 (GRCm39) S125R probably damaging Het
Sec16a C T 2: 26,302,970 (GRCm39) probably benign Het
Slc35f6 T C 5: 30,812,957 (GRCm39) L37P probably damaging Het
Slc6a12 T A 6: 121,335,972 (GRCm39) probably benign Het
Slc9a5 A G 8: 106,094,760 (GRCm39) K784E probably damaging Het
Snd1 T C 6: 28,707,053 (GRCm39) V455A probably damaging Het
Ssbp2 A T 13: 91,687,454 (GRCm39) I46L possibly damaging Het
Stil A G 4: 114,898,841 (GRCm39) D1157G probably benign Het
Tax1bp1 T A 6: 52,714,116 (GRCm39) C271S probably benign Het
Tdpoz6 G A 3: 93,599,776 (GRCm39) H198Y probably damaging Het
Tdrd6 T A 17: 43,935,007 (GRCm39) M2014L probably benign Het
Thsd7a T A 6: 12,504,012 (GRCm39) I381F possibly damaging Het
Thsd7a T A 6: 12,337,313 (GRCm39) T1235S possibly damaging Het
Tmprss11d T C 5: 86,457,260 (GRCm39) D133G probably damaging Het
Tpr C T 1: 150,320,150 (GRCm39) R2233W probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vgll1 A G X: 56,137,792 (GRCm39) R54G possibly damaging Het
Wdr72 A G 9: 74,117,306 (GRCm39) T673A probably benign Het
Zfp169 C T 13: 48,644,339 (GRCm39) probably benign Het
Zfp319 G A 8: 96,052,201 (GRCm39) probably benign Het
Other mutations in Adgre1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Adgre1 APN 17 57,757,055 (GRCm39) missense probably benign 0.00
IGL00966:Adgre1 APN 17 57,726,335 (GRCm39) missense probably benign 0.04
IGL01680:Adgre1 APN 17 57,709,620 (GRCm39) missense unknown
IGL01724:Adgre1 APN 17 57,751,064 (GRCm39) nonsense probably null
IGL02172:Adgre1 APN 17 57,785,879 (GRCm39) missense probably damaging 1.00
IGL02260:Adgre1 APN 17 57,754,891 (GRCm39) missense probably benign 0.01
IGL02272:Adgre1 APN 17 57,757,021 (GRCm39) nonsense probably null
IGL02336:Adgre1 APN 17 57,718,024 (GRCm39) nonsense probably null
IGL02346:Adgre1 APN 17 57,750,919 (GRCm39) missense probably benign 0.15
IGL02398:Adgre1 APN 17 57,709,824 (GRCm39) nonsense probably null
IGL02618:Adgre1 APN 17 57,751,021 (GRCm39) missense possibly damaging 0.66
IGL02690:Adgre1 APN 17 57,787,921 (GRCm39) missense probably damaging 1.00
IGL02936:Adgre1 APN 17 57,785,833 (GRCm39) missense probably benign 0.26
IGL03112:Adgre1 APN 17 57,755,029 (GRCm39) splice site probably null
IGL03350:Adgre1 APN 17 57,708,908 (GRCm39) missense probably benign 0.16
F480 UTSW 17 57,751,063 (GRCm39) missense probably damaging 1.00
lomax UTSW 17 57,709,811 (GRCm39) missense unknown
Onion UTSW 17 57,709,841 (GRCm39) nonsense probably null
Scallion UTSW 17 57,708,977 (GRCm39) missense possibly damaging 0.90
R0049:Adgre1 UTSW 17 57,709,841 (GRCm39) nonsense probably null
R0153:Adgre1 UTSW 17 57,750,939 (GRCm39) missense possibly damaging 0.92
R0277:Adgre1 UTSW 17 57,751,060 (GRCm39) missense probably benign 0.00
R0278:Adgre1 UTSW 17 57,754,872 (GRCm39) missense probably benign 0.07
R0323:Adgre1 UTSW 17 57,751,060 (GRCm39) missense probably benign 0.00
R0389:Adgre1 UTSW 17 57,713,839 (GRCm39) missense possibly damaging 0.80
R0492:Adgre1 UTSW 17 57,709,742 (GRCm39) missense unknown
R0621:Adgre1 UTSW 17 57,748,359 (GRCm39) missense probably damaging 0.98
R0647:Adgre1 UTSW 17 57,718,003 (GRCm39) missense probably damaging 1.00
R1310:Adgre1 UTSW 17 57,754,936 (GRCm39) missense probably benign 0.00
R1601:Adgre1 UTSW 17 57,748,353 (GRCm39) missense probably benign 0.01
R1689:Adgre1 UTSW 17 57,756,921 (GRCm39) missense probably benign 0.31
R1708:Adgre1 UTSW 17 57,708,974 (GRCm39) missense possibly damaging 0.93
R1796:Adgre1 UTSW 17 57,748,350 (GRCm39) missense probably benign 0.43
R1839:Adgre1 UTSW 17 57,748,299 (GRCm39) missense probably benign 0.00
R1860:Adgre1 UTSW 17 57,748,363 (GRCm39) missense probably benign 0.00
R2165:Adgre1 UTSW 17 57,726,338 (GRCm39) missense probably damaging 0.97
R2219:Adgre1 UTSW 17 57,708,912 (GRCm39) missense possibly damaging 0.92
R2519:Adgre1 UTSW 17 57,717,956 (GRCm39) missense probably damaging 1.00
R3874:Adgre1 UTSW 17 57,708,925 (GRCm39) missense probably benign 0.08
R3911:Adgre1 UTSW 17 57,754,860 (GRCm39) missense probably damaging 1.00
R4190:Adgre1 UTSW 17 57,709,811 (GRCm39) missense unknown
R4439:Adgre1 UTSW 17 57,754,954 (GRCm39) missense probably damaging 1.00
R4513:Adgre1 UTSW 17 57,717,947 (GRCm39) missense probably benign 0.34
R4529:Adgre1 UTSW 17 57,727,519 (GRCm39) missense possibly damaging 0.92
R4543:Adgre1 UTSW 17 57,713,874 (GRCm39) missense probably benign 0.07
R4610:Adgre1 UTSW 17 57,757,073 (GRCm39) missense possibly damaging 0.50
R4911:Adgre1 UTSW 17 57,754,832 (GRCm39) missense possibly damaging 0.57
R4928:Adgre1 UTSW 17 57,751,064 (GRCm39) nonsense probably null
R4942:Adgre1 UTSW 17 57,713,903 (GRCm39) missense probably damaging 1.00
R4946:Adgre1 UTSW 17 57,750,918 (GRCm39) missense probably benign 0.33
R4953:Adgre1 UTSW 17 57,748,321 (GRCm39) missense probably damaging 0.99
R5107:Adgre1 UTSW 17 57,708,977 (GRCm39) missense possibly damaging 0.90
R5366:Adgre1 UTSW 17 57,709,817 (GRCm39) missense probably benign 0.39
R5590:Adgre1 UTSW 17 57,752,034 (GRCm39) missense probably damaging 1.00
R5619:Adgre1 UTSW 17 57,727,437 (GRCm39) missense probably benign 0.15
R5699:Adgre1 UTSW 17 57,788,007 (GRCm39) missense probably benign 0.43
R5734:Adgre1 UTSW 17 57,750,990 (GRCm39) missense probably benign 0.00
R5860:Adgre1 UTSW 17 57,752,034 (GRCm39) missense probably damaging 1.00
R6039:Adgre1 UTSW 17 57,713,859 (GRCm39) missense probably benign 0.28
R6039:Adgre1 UTSW 17 57,713,859 (GRCm39) missense probably benign 0.28
R6149:Adgre1 UTSW 17 57,752,018 (GRCm39) missense probably benign 0.08
R6478:Adgre1 UTSW 17 57,708,955 (GRCm39) missense possibly damaging 0.81
R6709:Adgre1 UTSW 17 57,713,917 (GRCm39) missense probably benign 0.10
R6864:Adgre1 UTSW 17 57,785,879 (GRCm39) missense probably damaging 1.00
R6945:Adgre1 UTSW 17 57,727,399 (GRCm39) missense probably benign 0.39
R6945:Adgre1 UTSW 17 57,717,844 (GRCm39) missense probably benign 0.01
R6988:Adgre1 UTSW 17 57,715,445 (GRCm39) missense probably benign 0.00
R7019:Adgre1 UTSW 17 57,717,945 (GRCm39) missense probably damaging 0.98
R7154:Adgre1 UTSW 17 57,751,087 (GRCm39) splice site probably null
R7347:Adgre1 UTSW 17 57,727,441 (GRCm39) missense probably damaging 1.00
R7459:Adgre1 UTSW 17 57,756,933 (GRCm39) missense probably damaging 1.00
R7709:Adgre1 UTSW 17 57,709,519 (GRCm39) missense unknown
R7939:Adgre1 UTSW 17 57,756,938 (GRCm39) missense probably damaging 0.98
R7977:Adgre1 UTSW 17 57,754,987 (GRCm39) missense possibly damaging 0.54
R7987:Adgre1 UTSW 17 57,754,987 (GRCm39) missense possibly damaging 0.54
R8187:Adgre1 UTSW 17 57,727,349 (GRCm39) missense probably benign 0.00
R8210:Adgre1 UTSW 17 57,752,061 (GRCm39) missense possibly damaging 0.94
R8223:Adgre1 UTSW 17 57,668,692 (GRCm39) missense probably damaging 0.99
R8344:Adgre1 UTSW 17 57,715,459 (GRCm39) missense probably benign 0.12
R8698:Adgre1 UTSW 17 57,709,003 (GRCm39) missense probably benign 0.05
R9236:Adgre1 UTSW 17 57,709,782 (GRCm39) nonsense probably null
R9262:Adgre1 UTSW 17 57,754,941 (GRCm39) missense probably damaging 1.00
R9303:Adgre1 UTSW 17 57,748,275 (GRCm39) missense probably benign 0.00
R9305:Adgre1 UTSW 17 57,748,275 (GRCm39) missense probably benign 0.00
R9605:Adgre1 UTSW 17 57,718,083 (GRCm39) missense probably benign 0.00
R9661:Adgre1 UTSW 17 57,748,368 (GRCm39) missense possibly damaging 0.70
R9678:Adgre1 UTSW 17 57,750,997 (GRCm39) missense probably damaging 0.96
R9751:Adgre1 UTSW 17 57,757,101 (GRCm39) missense probably null 0.06
R9785:Adgre1 UTSW 17 57,785,930 (GRCm39) missense probably damaging 1.00
Z1176:Adgre1 UTSW 17 57,668,729 (GRCm39) missense possibly damaging 0.76
Z1177:Adgre1 UTSW 17 57,726,374 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GTGCAGCCATGTTGGTACC -3'
(R):5'- GAGCACACTTAGCAGTCAGC -3'

Sequencing Primer
(F):5'- GGAGCTATCCATTGGAGCATATCC -3'
(R):5'- CAGTACTGACAGAAGGTATTTTTCGG -3'
Posted On 2015-10-08