Incidental Mutation 'R8698:Adgre1'
ID 668885
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 068552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R8698 (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 C at 57709003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
Ref Sequence ENSEMBL: ENSMUSP00000004850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004850] [ENSMUST00000086763]
AlphaFold Q61549
Predicted Effect probably benign
Transcript: ENSMUST00000004850
AA Change: S65P

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: S65P

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: S65P

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: S65P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,247,250 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,306,714 (GRCm39) N1384S probably benign Het
Adgrl4 G T 3: 151,203,512 (GRCm39) C124F probably damaging Het
Aldh1b1 G A 4: 45,802,942 (GRCm39) G160D probably damaging Het
Alpi T G 1: 87,028,208 (GRCm39) D205A probably damaging Het
AW146154 C A 7: 41,129,934 (GRCm39) R394L probably benign Het
Bcl10 G A 3: 145,639,022 (GRCm39) M221I probably benign Het
Brpf3 G A 17: 29,037,436 (GRCm39) R768H probably damaging Het
Cad G T 5: 31,234,819 (GRCm39) R2116L probably benign Het
Cand2 G T 6: 115,763,852 (GRCm39) R258L probably damaging Het
Car4 A T 11: 84,855,009 (GRCm39) N119I probably benign Het
Carmil1 C T 13: 24,220,229 (GRCm39) G1165D probably damaging Het
Ccdc66 T C 14: 27,212,647 (GRCm39) T403A probably benign Het
Cdon T G 9: 35,398,269 (GRCm39) probably null Het
Cemip T C 7: 83,607,790 (GRCm39) I739V probably damaging Het
Cep85l A G 10: 53,234,201 (GRCm39) I59T probably damaging Het
Clec4f A T 6: 83,630,267 (GRCm39) V97D probably benign Het
Cnot6l A G 5: 96,225,149 (GRCm39) C515R probably damaging Het
Cntnap2 G A 6: 47,026,156 (GRCm39) G935D probably damaging Het
Cntrl A G 2: 35,023,974 (GRCm39) H553R probably damaging Het
Cops3 A G 11: 59,708,886 (GRCm39) S423P probably damaging Het
Cox15 C T 19: 43,739,948 (GRCm39) R39H probably benign Het
Ctnna2 A G 6: 77,630,100 (GRCm39) V131A probably benign Het
Dcst2 T A 3: 89,276,044 (GRCm39) F392I probably benign Het
Decr1 A G 4: 15,922,483 (GRCm39) probably null Het
Dennd3 A C 15: 73,394,154 (GRCm39) T60P possibly damaging Het
Dipk1a A T 5: 108,057,776 (GRCm39) F261I probably damaging Het
Dmxl2 T C 9: 54,281,953 (GRCm39) N2859S probably benign Het
Dnah12 A T 14: 26,428,418 (GRCm39) I280F probably benign Het
Dnah8 A C 17: 31,094,009 (GRCm39) D4701A probably damaging Het
Dyrk1a C A 16: 94,487,414 (GRCm39) H541Q possibly damaging Het
Eml4 T C 17: 83,785,345 (GRCm39) S906P probably benign Het
Fam169a G T 13: 97,243,578 (GRCm39) V203F probably damaging Het
Fmn1 C T 2: 113,260,152 (GRCm39) L682F unknown Het
Gli2 T C 1: 118,769,887 (GRCm39) Y555C probably damaging Het
Gm3278 A G 14: 16,081,505 (GRCm39) Y130C possibly damaging Het
Gm8237 T A 14: 5,863,554 (GRCm38) Y37F probably damaging Het
Golga4 T G 9: 118,385,029 (GRCm39) L717R probably damaging Het
Gtpbp4 C T 13: 9,024,249 (GRCm39) R568H probably benign Het
Il1f10 A G 2: 24,183,197 (GRCm39) N47S probably damaging Het
Itga6 A G 2: 71,673,618 (GRCm39) H884R probably benign Het
Kdm1a T C 4: 136,286,518 (GRCm39) K482R probably benign Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 T A 2: 69,278,583 (GRCm39) R3923S probably benign Het
Lrp2 C T 2: 69,288,767 (GRCm39) V3700M probably benign Het
Lrrk2 A G 15: 91,636,400 (GRCm39) D1458G probably benign Het
Mapre2 T A 18: 24,011,090 (GRCm39) S233T probably benign Het
Mki67 T C 7: 135,296,937 (GRCm39) D2699G possibly damaging Het
Mthfr T A 4: 148,128,947 (GRCm39) Y214* probably null Het
Ncoa6 A T 2: 155,257,041 (GRCm39) M834K possibly damaging Het
Neurl2 C T 2: 164,675,054 (GRCm39) D103N probably benign Het
Niban3 T A 8: 72,060,159 (GRCm39) I93N unknown Het
Or1j15 T C 2: 36,458,915 (GRCm39) Y102H possibly damaging Het
Or2ag16 A T 7: 106,352,571 (GRCm39) V8E probably benign Het
Or2b7 G A 13: 21,739,890 (GRCm39) L101F probably damaging Het
P2ry14 A G 3: 59,022,596 (GRCm39) V288A possibly damaging Het
Pde6b G T 5: 108,576,105 (GRCm39) S730I possibly damaging Het
Pdpk1 A T 17: 24,298,542 (GRCm39) V496D probably damaging Het
Plekho2 A T 9: 65,463,554 (GRCm39) L432M probably damaging Het
Ppa2 T C 3: 133,082,362 (GRCm39) L151P unknown Het
Ppp2r3c G A 12: 55,328,499 (GRCm39) T422I probably benign Het
Prelid3a T C 18: 67,610,122 (GRCm39) S151P probably damaging Het
Rad21l G A 2: 151,487,373 (GRCm39) P537L probably damaging Het
Sacs T A 14: 61,450,802 (GRCm39) S4283T probably benign Het
Samd9l A T 6: 3,373,843 (GRCm39) D1139E probably benign Het
Scn9a G T 2: 66,366,628 (GRCm39) H718Q probably benign Het
Slc1a3 A T 15: 8,668,636 (GRCm39) I443N probably damaging Het
Slc22a6 A G 19: 8,600,889 (GRCm39) M361V probably benign Het
Slc8a2 A G 7: 15,891,132 (GRCm39) Y724C probably damaging Het
Slf1 A T 13: 77,197,284 (GRCm39) S777T possibly damaging Het
Sltm T C 9: 70,494,352 (GRCm39) S901P probably benign Het
Smc1b A T 15: 84,997,047 (GRCm39) H524Q probably benign Het
Spast T C 17: 74,666,341 (GRCm39) S225P probably benign Het
Srsf12 C T 4: 33,231,246 (GRCm39) R252W probably damaging Het
Syne1 A G 10: 5,179,229 (GRCm39) L4415P probably damaging Het
Tmem117 A T 15: 94,535,990 (GRCm39) Y8F probably benign Het
Tmem241 T C 18: 12,197,288 (GRCm39) D180G possibly damaging Het
Tomm40 C T 7: 19,444,890 (GRCm39) V164I probably benign Het
Ttc41 T C 10: 86,548,841 (GRCm39) Y12H probably benign Het
Twnk T C 19: 44,996,299 (GRCm39) V244A probably benign Het
Ugt1a8 T C 1: 88,015,952 (GRCm39) S122P probably damaging Het
Vmn1r78 A G 7: 11,886,539 (GRCm39) K50R probably benign Het
Vmn2r10 A G 5: 109,151,390 (GRCm39) F75L probably benign Het
Wbp4 G T 14: 79,707,573 (GRCm39) Y179* probably null Het
Zfp106 A G 2: 120,354,600 (GRCm39) probably null Het
Zfp974 A T 7: 27,610,361 (GRCm39) C455S possibly 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
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
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'- TCATAGGCAGGAGACTCTAGGG -3'
(R):5'- TCAGATTCACAAGGTTCCTTCC -3'

Sequencing Primer
(F):5'- AGACTCTAGGGTGTGACTCCTC -3'
(R):5'- AAGGTTCCTTCCCTTGGACATATG -3'
Posted On 2021-04-30