Incidental Mutation 'R8223:Adgre1'
ID 636860
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 067641-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R8223 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 57665691-57790527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57668692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 18 (W18R)
Ref Sequence ENSEMBL: ENSMUSP00000004850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004850] [ENSMUST00000086763]
AlphaFold Q61549
Predicted Effect probably damaging
Transcript: ENSMUST00000004850
AA Change: W18R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: W18R

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 damaging
Transcript: ENSMUST00000086763
AA Change: W18R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: W18R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,620,222 (GRCm39) Y2417* probably null Het
Apold1 T A 6: 134,961,148 (GRCm39) S201T probably benign Het
Arhgap31 G A 16: 38,424,084 (GRCm39) P661S probably benign Het
Cacfd1 T C 2: 26,908,396 (GRCm39) V110A possibly damaging Het
Capn2 A G 1: 182,310,099 (GRCm39) probably null Het
Chadl T C 15: 81,579,335 (GRCm39) E98G possibly damaging Het
Crxos T C 7: 15,631,394 (GRCm39) Y31H probably benign Het
Cyp4f14 A C 17: 33,130,627 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,689,839 (GRCm39) I95T probably benign Het
Dars1 T C 1: 128,299,961 (GRCm39) E341G probably benign Het
Dchs1 G T 7: 105,411,824 (GRCm39) R1431S possibly damaging Het
Dop1a T A 9: 86,400,345 (GRCm39) H1001Q probably damaging Het
Efemp1 T C 11: 28,804,528 (GRCm39) Y19H probably benign Het
Eml1 T G 12: 108,502,569 (GRCm39) F726V probably benign Het
Fdx1 A T 9: 51,859,921 (GRCm39) D136E probably benign Het
Ganab A T 19: 8,888,192 (GRCm39) D446V probably damaging Het
Gusb A G 5: 130,018,953 (GRCm39) V561A probably benign Het
Hcn1 A T 13: 118,010,406 (GRCm39) D328V unknown Het
Hdgfl1 A G 13: 26,954,047 (GRCm39) Y9H probably damaging Het
Hes3 T A 4: 152,371,572 (GRCm39) S101C probably damaging Het
Igkv2-112 T C 6: 68,197,579 (GRCm39) S84P probably benign Het
Ints9 C T 14: 65,257,809 (GRCm39) P330S possibly damaging Het
Kdm7a A T 6: 39,126,235 (GRCm39) N583K probably damaging Het
Klhl10 C T 11: 100,338,227 (GRCm39) T322M probably damaging Het
Kmt2c A T 5: 25,529,216 (GRCm39) V1545D possibly damaging Het
Laptm5 T C 4: 130,653,511 (GRCm39) probably null Het
Ldlr A G 9: 21,658,546 (GRCm39) T833A probably damaging Het
Llgl1 G T 11: 60,593,648 (GRCm39) L40F possibly damaging Het
Lrrc14 T C 15: 76,598,756 (GRCm39) L464S probably damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Lysmd3 T A 13: 81,817,386 (GRCm39) L121H Het
Map2 T C 1: 66,464,649 (GRCm39) S1680P probably damaging Het
Med12l T C 3: 58,993,784 (GRCm39) V583A possibly damaging Het
Mfsd4b5 A G 10: 39,846,246 (GRCm39) Y445H probably damaging Het
Morf4l1 G A 9: 89,979,475 (GRCm39) P169S probably benign Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Ola1 A G 2: 72,929,694 (GRCm39) L303P probably damaging Het
Or1j19 T A 2: 36,677,409 (GRCm39) Y291N Het
Or1o2 T C 17: 37,542,727 (GRCm39) D178G possibly damaging Het
Or7e166 T C 9: 19,624,705 (GRCm39) I194T probably benign Het
Or9i2 G T 19: 13,816,225 (GRCm39) T104K probably damaging Het
Pdlim3 A T 8: 46,353,562 (GRCm39) H99L possibly damaging Het
Plagl2 G T 2: 153,073,461 (GRCm39) T480N probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptprq C T 10: 107,535,499 (GRCm39) R422Q probably benign Het
Rad18 T A 6: 112,664,982 (GRCm39) R51* probably null Het
Rpap3 T A 15: 97,589,185 (GRCm39) T250S probably benign Het
Serpinb11 T C 1: 107,305,262 (GRCm39) Y213H probably benign Het
Slc15a4 A G 5: 127,686,080 (GRCm39) F201L possibly damaging Het
Slc25a4 A G 8: 46,663,896 (GRCm39) S22P probably damaging Het
Slfn1 T A 11: 83,012,245 (GRCm39) N120K probably damaging Het
Smok3c T C 5: 138,063,655 (GRCm39) S381P probably benign Het
Sry T A Y: 2,663,204 (GRCm39) Q152L unknown Het
Taar2 T A 10: 23,817,248 (GRCm39) W263R probably damaging Het
Thnsl1 T A 2: 21,216,924 (GRCm39) V226E probably benign Het
Tmeff2 T C 1: 51,172,279 (GRCm39) probably null Het
Tox A G 4: 6,842,408 (GRCm39) Y41H probably damaging Het
Trank1 T A 9: 111,194,957 (GRCm39) Y994N probably damaging Het
Trim9 C T 12: 70,297,789 (GRCm39) A713T probably damaging Het
Tub T A 7: 108,628,533 (GRCm39) M393K probably benign Het
Ube4a A G 9: 44,871,333 (GRCm39) L22P possibly damaging Het
Usp47 A G 7: 111,703,583 (GRCm39) K1165R probably damaging Het
Usp6nl T A 2: 6,435,327 (GRCm39) I362K probably damaging Het
Vmn1r217 T C 13: 23,298,369 (GRCm39) I178V probably benign Het
Vmn1r45 T A 6: 89,910,074 (GRCm39) T299S probably damaging Het
Vmn2r5 A T 3: 64,398,726 (GRCm39) L751* probably null Het
Xkr8 G A 4: 132,458,246 (GRCm39) P144L probably damaging Het
Zfpm2 T C 15: 40,616,355 (GRCm39) I35T 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
R4665:Adgre1 UTSW 17 57,787,947 (GRCm39) missense probably benign 0.20
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
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'- TTGTTTGAGCATAGCCAACTTTCC -3'
(R):5'- TGCTTCTGCCTTTAACTGGG -3'

Sequencing Primer
(F):5'- TGGGGCATATGATCTTCCCAAGAC -3'
(R):5'- GTCCCACAAAGTATAAGGGTCATCTG -3'
Posted On 2020-07-13