Incidental Mutation 'R4953:Adgre1'
ID 381437
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 042550-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R4953 (G1)
Quality Score 220
Status Validated
Chromosome 17
Chromosomal Location 57665691-57790527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57748321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 507 (G507E)
Ref Sequence ENSEMBL: ENSMUSP00000083971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004850] [ENSMUST00000086763]
AlphaFold Q61549
Predicted Effect probably damaging
Transcript: ENSMUST00000004850
AA Change: G507E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: G507E

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: G507E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: G507E

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 0.1894 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (113/116)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,128,525 (GRCm39) Y129H probably damaging Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Agpat5 G A 8: 18,918,971 (GRCm39) V118I probably benign Het
Aif1 T C 17: 35,390,074 (GRCm39) probably null Het
Akr1c6 A T 13: 4,488,608 (GRCm39) probably null Het
Akt2 T A 7: 27,337,597 (GRCm39) probably null Het
Ankrd35 T A 3: 96,590,989 (GRCm39) L425Q possibly damaging Het
Arhgap40 A G 2: 158,385,326 (GRCm39) T520A possibly damaging Het
Arhgef28 T A 13: 98,066,062 (GRCm39) D1597V possibly damaging Het
Aspm A G 1: 139,399,472 (GRCm39) D1079G probably benign Het
Atp1a2 A T 1: 172,119,009 (GRCm39) probably benign Het
Cage1 C A 13: 38,207,406 (GRCm39) E252D possibly damaging Het
Ccdc185 A G 1: 182,576,582 (GRCm39) S36P possibly damaging Het
Cd300a T C 11: 114,784,247 (GRCm39) V85A probably damaging Het
Cd38 A C 5: 44,064,887 (GRCm39) D235A possibly damaging Het
Cdcp1 T C 9: 123,009,088 (GRCm39) K530R probably benign Het
Ceacam20 T A 7: 19,705,651 (GRCm39) L214Q probably damaging Het
Cntn4 G A 6: 106,502,379 (GRCm39) A379T probably benign Het
Col4a2 A T 8: 11,479,505 (GRCm39) E796V probably benign Het
Copa A G 1: 171,910,453 (GRCm39) probably benign Het
Cpa5 A G 6: 30,631,363 (GRCm39) T426A possibly damaging Het
Csmd1 A G 8: 16,249,931 (GRCm39) F1016L probably damaging Het
Cyb5r3 A T 15: 83,042,822 (GRCm39) L290* probably null Het
Ddx42 A G 11: 106,133,766 (GRCm39) T581A probably damaging Het
Deaf1 C T 7: 140,902,381 (GRCm39) G221S probably damaging Het
Dnah6 A G 6: 73,165,366 (GRCm39) S580P probably benign Het
Dock1 A G 7: 134,754,017 (GRCm39) E1598G probably benign Het
Drg2 T C 11: 60,350,262 (GRCm39) probably benign Het
Eif3f C A 7: 108,533,847 (GRCm39) probably benign Het
Fam184a G T 10: 53,574,901 (GRCm39) T236K probably benign Het
Gas7 C T 11: 67,550,876 (GRCm39) T126M possibly damaging Het
Gckr T G 5: 31,465,608 (GRCm39) F408C probably damaging Het
Gm17472 A G 6: 42,958,004 (GRCm39) D91G probably damaging Het
Gm5117 G A 8: 32,228,608 (GRCm39) noncoding transcript Het
Gsto1 T A 19: 47,843,759 (GRCm39) I47N probably damaging Het
Hck C T 2: 152,976,597 (GRCm39) P244S probably damaging Het
Hif3a T C 7: 16,784,490 (GRCm39) T250A probably damaging Het
Hmcn1 A T 1: 150,752,111 (GRCm39) probably benign Het
Impa1 G A 3: 10,380,340 (GRCm39) S247F probably damaging Het
Ints14 G C 9: 64,889,340 (GRCm39) R397P probably damaging Het
Iqgap1 T C 7: 80,373,524 (GRCm39) probably null Het
Krt1c T C 15: 101,722,377 (GRCm39) K436R probably damaging Het
Lama3 G A 18: 12,581,362 (GRCm39) C607Y probably damaging Het
Loxl4 G T 19: 42,599,133 (GRCm39) probably benign Het
Lrrc8d C T 5: 105,961,234 (GRCm39) T548M probably damaging Het
Man1b1 T A 2: 25,228,196 (GRCm39) D155E probably damaging Het
Mapk8ip2 C T 15: 89,341,431 (GRCm39) P214L probably benign Het
Mast1 G A 8: 85,645,357 (GRCm39) T696I probably damaging Het
Muc15 C T 2: 110,561,617 (GRCm39) P18S probably damaging Het
Mybl2 T C 2: 162,922,716 (GRCm39) S205P probably damaging Het
Mylk T C 16: 34,809,331 (GRCm39) S1763P probably damaging Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nfib A G 4: 82,271,808 (GRCm39) M252T probably benign Het
Nid2 C A 14: 19,828,146 (GRCm39) Y261* probably null Het
Nmd3 C T 3: 69,638,970 (GRCm39) R187C possibly damaging Het
Nomo1 G T 7: 45,700,155 (GRCm39) probably benign Het
Npy4r A G 14: 33,868,437 (GRCm39) F284L probably damaging Het
Nt5dc2 T C 14: 30,860,878 (GRCm39) V351A possibly damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or5b121 T A 19: 13,507,178 (GRCm39) L91Q probably null Het
Or5g27 T A 2: 85,410,069 (GRCm39) L162* probably null Het
Pcdhb12 T A 18: 37,569,209 (GRCm39) D118E probably damaging Het
Pdcd11 C T 19: 47,116,404 (GRCm39) T1518I probably benign Het
Pde6a T A 18: 61,364,434 (GRCm39) C163* probably null Het
Pign A T 1: 105,572,227 (GRCm39) W314R probably benign Het
Pip5k1b T A 19: 24,367,799 (GRCm39) H76L probably damaging Het
Plcz1 T C 6: 139,974,277 (GRCm39) N55S possibly damaging Het
Pou5f1 A T 17: 35,821,438 (GRCm39) H350L possibly damaging Het
Rchy1 A T 5: 92,110,487 (GRCm39) probably null Het
Ric8b A G 10: 84,793,946 (GRCm39) T270A possibly damaging Het
Rprml A G 11: 103,540,644 (GRCm39) E13G probably benign Het
Secisbp2 T A 13: 51,836,063 (GRCm39) I719N probably damaging Het
Sergef C T 7: 46,283,259 (GRCm39) R148H probably benign Het
Serpina6 T A 12: 103,618,221 (GRCm39) probably null Het
Sirpb1b C A 3: 15,613,887 (GRCm39) W65L probably damaging Het
Slc32a1 A T 2: 158,455,977 (GRCm39) I211F possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Smarce1 A G 11: 99,105,977 (GRCm39) V226A probably benign Het
Spata31d1b A T 13: 59,864,097 (GRCm39) E415V probably damaging Het
Speg G A 1: 75,400,508 (GRCm39) R2556H possibly damaging Het
Suclg2 A C 6: 95,543,417 (GRCm39) V338G probably damaging Het
Tarbp1 T C 8: 127,174,184 (GRCm39) E874G possibly damaging Het
Tex14 G T 11: 87,427,727 (GRCm39) probably null Het
Trim36 T A 18: 46,329,245 (GRCm39) D53V possibly damaging Het
Tsga10ip T A 19: 5,444,368 (GRCm39) Y21F possibly damaging Het
Ttn C T 2: 76,620,289 (GRCm39) V15849M probably damaging Het
Ube3b T C 5: 114,539,471 (GRCm39) S421P probably benign Het
Unc5a A T 13: 55,147,683 (GRCm39) M498L probably benign Het
Vipr2 A G 12: 116,107,876 (GRCm39) I420M probably benign Het
Vmn1r179 T A 7: 23,628,515 (GRCm39) H235Q probably damaging Het
Vps35 T A 8: 86,008,475 (GRCm39) I267F probably damaging Het
Wdr26 G A 1: 181,025,216 (GRCm39) R279W probably damaging Het
Xpo6 C A 7: 125,768,443 (GRCm39) R88L probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp105 T A 9: 122,758,880 (GRCm39) S184T probably benign Het
Zfp574 G A 7: 24,780,388 (GRCm39) R470H probably damaging Het
Zswim9 T A 7: 13,003,484 (GRCm39) H122L probably damaging 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
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'- TTGAGCCACCCTTTAAAGCTTC -3'
(R):5'- CTGCCTGTACATAGAGCCATC -3'

Sequencing Primer
(F):5'- AAAGCTTCTTGGTTTCTTGGACAG -3'
(R):5'- TAGAACTCAGTGGAAAGCCTTAC -3'
Posted On 2016-04-27