Incidental Mutation 'R0153:Adgre1'
ID 22878
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 038436-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R0153 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 57665691-57790527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57750939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 538 (S538T)
Ref Sequence ENSEMBL: ENSMUSP00000083971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004850] [ENSMUST00000086763]
AlphaFold Q61549
Predicted Effect possibly damaging
Transcript: ENSMUST00000004850
AA Change: S538T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: S538T

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 possibly damaging
Transcript: ENSMUST00000086763
AA Change: S538T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: S538T

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 0.1501 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency 97% (99/102)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,119 (GRCm39) M406V probably benign Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Alms1 T A 6: 85,618,363 (GRCm39) I2803N possibly damaging Het
Amn1 G T 6: 149,090,091 (GRCm39) probably benign Het
Arid1b G A 17: 5,393,207 (GRCm39) A2246T probably damaging Het
BC024139 T C 15: 76,005,947 (GRCm39) E418G probably damaging Het
Bok A G 1: 93,614,239 (GRCm39) D24G probably damaging Het
Cabp2 T C 19: 4,134,913 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,995,582 (GRCm39) probably benign Het
Ccdc178 T C 18: 22,283,492 (GRCm39) T13A probably benign Het
Ccdc42 G T 11: 68,478,476 (GRCm39) V33F possibly damaging Het
Clcn7 G A 17: 25,368,176 (GRCm39) probably benign Het
Cluh A G 11: 74,548,176 (GRCm39) probably benign Het
Cr1l A T 1: 194,797,164 (GRCm39) probably benign Het
Cracdl A G 1: 37,663,720 (GRCm39) V726A probably benign Het
Csnk1g3 T A 18: 54,051,861 (GRCm39) probably benign Het
Depdc5 T C 5: 33,091,281 (GRCm39) probably benign Het
Dgkh A C 14: 78,807,569 (GRCm39) Y1149* probably null Het
Dipk2a G T 9: 94,406,533 (GRCm39) D291E probably benign Het
Dnai1 A G 4: 41,635,162 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,196,256 (GRCm39) V497A probably benign Het
Efcab2 A G 1: 178,302,451 (GRCm39) E65G possibly damaging Het
Eif4a3l1 A T 6: 136,305,842 (GRCm39) D101V probably damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fgfr4 A G 13: 55,309,198 (GRCm39) probably benign Het
Garin5b A T 7: 4,773,286 (GRCm39) L177Q probably damaging Het
Gm10720 A C 9: 3,015,787 (GRCm39) S44R probably null Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm6471 A T 7: 142,385,368 (GRCm39) noncoding transcript Het
Hnrnpm C T 17: 33,865,489 (GRCm39) R724Q probably damaging Het
Homer1 C T 13: 93,528,254 (GRCm39) T117I possibly damaging Het
Hoxd4 A T 2: 74,557,801 (GRCm39) Q60L probably damaging Het
Ift172 T C 5: 31,417,968 (GRCm39) R1274G probably benign Het
Ino80d A G 1: 63,097,477 (GRCm39) S806P probably damaging Het
Itga10 T C 3: 96,561,016 (GRCm39) V627A probably benign Het
Itgb2l A G 16: 96,238,569 (GRCm39) Y77H possibly damaging Het
Kel A T 6: 41,678,877 (GRCm39) H195Q probably benign Het
Klhdc7a A G 4: 139,694,582 (GRCm39) S122P possibly damaging Het
Krt71 T A 15: 101,643,141 (GRCm39) I456F possibly damaging Het
Lats1 T A 10: 7,567,339 (GRCm39) S37T probably damaging Het
Lrp1b T A 2: 41,013,031 (GRCm39) H1858L possibly damaging Het
Matk A T 10: 81,098,676 (GRCm39) T461S probably benign Het
Meikin A G 11: 54,300,468 (GRCm39) probably benign Het
Muc6 T C 7: 141,214,029 (GRCm39) Q2832R possibly damaging Het
Myo10 T C 15: 25,781,324 (GRCm39) F194L possibly damaging Het
Nbas G A 12: 13,323,877 (GRCm39) probably benign Het
Nme4 A G 17: 26,312,831 (GRCm39) probably null Het
Or13p8 A T 4: 118,583,530 (GRCm39) I29F possibly damaging Het
Or4c112 T A 2: 88,853,540 (GRCm39) N269I probably benign Het
Or5w13 A G 2: 87,523,948 (GRCm39) S93P probably benign Het
Or7g32 T A 9: 19,408,233 (GRCm39) L63H probably damaging Het
Or8g34 T C 9: 39,372,967 (GRCm39) V80A probably damaging Het
Pacsin2 T C 15: 83,261,862 (GRCm39) Q473R probably benign Het
Patz1 A G 11: 3,243,288 (GRCm39) H427R probably damaging Het
Pkp3 A G 7: 140,663,256 (GRCm39) Y367C probably damaging Het
Prdm2 G A 4: 142,860,338 (GRCm39) P984L possibly damaging Het
Rev3l T A 10: 39,750,124 (GRCm39) C3091* probably null Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rpl5 T C 5: 108,052,623 (GRCm39) F140L probably benign Het
Sec24a A C 11: 51,591,653 (GRCm39) I1014M probably benign Het
Serpinb11 A G 1: 107,299,933 (GRCm39) H93R probably benign Het
Shank2 C A 7: 143,623,872 (GRCm39) H286N probably benign Het
Sipa1l2 G T 8: 126,148,637 (GRCm39) Q1651K probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc30a5 A T 13: 100,963,002 (GRCm39) F75L possibly damaging Het
Slco1a1 G T 6: 141,856,427 (GRCm39) probably benign Het
Smg5 C T 3: 88,261,179 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Taf8 A T 17: 47,809,177 (GRCm39) probably benign Het
Tars3 A G 7: 65,333,829 (GRCm39) D617G probably damaging Het
Tbc1d5 A T 17: 51,291,715 (GRCm39) probably benign Het
Tfcp2 C G 15: 100,412,708 (GRCm39) E315Q probably damaging Het
Tmf1 A T 6: 97,147,345 (GRCm39) S540R probably damaging Het
Tmprss4 T C 9: 45,095,634 (GRCm39) Q70R probably benign Het
Trip13 G T 13: 74,068,183 (GRCm39) A266E possibly damaging Het
Ttc24 T A 3: 87,982,234 (GRCm39) probably benign Het
Ttll5 T A 12: 85,878,740 (GRCm39) I49N probably damaging Het
Tut7 G A 13: 59,930,150 (GRCm39) R962* probably null Het
Ube2ql1 A T 13: 69,886,711 (GRCm39) M250K possibly damaging Het
Vmn1r87 A T 7: 12,866,211 (GRCm39) D25E probably damaging Het
Vmn2r84 A G 10: 130,227,877 (GRCm39) Y120H probably benign Het
Wdr6 G A 9: 108,452,441 (GRCm39) R481C probably damaging Het
Zdhhc17 A T 10: 110,790,955 (GRCm39) Y371* probably null Het
Zfp292 T C 4: 34,811,185 (GRCm39) N620D probably benign Het
Zfp932 T A 5: 110,154,834 (GRCm39) Y11N 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
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
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'- ATGTTGCTCCACAGGCCATTGG -3'
(R):5'- AACCTGGATGTGCTGGAGGGTATAG -3'

Sequencing Primer
(F):5'- GCCTCAACTGATCTGAAAATTCTTGG -3'
(R):5'- TAGATAATAGGCTTGGAGAAGTCCTC -3'
Posted On 2013-04-16