Incidental Mutation 'R5366:Adgre1'
ID 429381
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 042944-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R5366 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57665691-57790527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57709817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 158 (C158Y)
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: C158Y

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: C158Y

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: C158Y

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: C158Y

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 0.9156 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 100% (77/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,831,665 (GRCm39) N1229S possibly damaging Het
Ahnak T A 19: 8,994,099 (GRCm39) S5128T possibly damaging Het
Ankrd36 T A 11: 5,542,841 (GRCm39) C322* probably null Het
Ano1 T A 7: 144,207,946 (GRCm39) T113S possibly damaging Het
Apeh A T 9: 107,969,005 (GRCm39) S321T probably benign Het
Atg4d T A 9: 21,179,948 (GRCm39) V273D probably damaging Het
Cacna2d4 A G 6: 119,251,279 (GRCm39) D489G probably damaging Het
Cd47 T C 16: 49,716,736 (GRCm39) F256L probably damaging Het
Cd84 A T 1: 171,700,872 (GRCm39) D211V probably damaging Het
Cfap46 A G 7: 139,230,802 (GRCm39) L942P probably damaging Het
Cfh A C 1: 140,063,973 (GRCm39) C434W probably damaging Het
Chst2 T C 9: 95,287,518 (GRCm39) D276G probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Degs1 C A 1: 182,106,927 (GRCm39) D111Y probably benign Het
Dhps T A 8: 85,801,413 (GRCm39) D313E probably damaging Het
Dipk1c T A 18: 84,748,720 (GRCm39) L106Q probably damaging Het
Dock9 A G 14: 121,815,615 (GRCm39) C1645R probably damaging Het
Efcab7 A C 4: 99,761,931 (GRCm39) D407A possibly damaging Het
Eif3a G T 19: 60,767,971 (GRCm39) T189N probably benign Het
Ep300 T A 15: 81,500,301 (GRCm39) L57M probably benign Het
Exoc6b T A 6: 84,867,513 (GRCm39) I300L probably benign Het
Fzd8 T C 18: 9,213,880 (GRCm39) S321P probably damaging Het
Garre1 A T 7: 33,941,713 (GRCm39) M657K possibly damaging Het
Gm9920 T A 15: 54,975,705 (GRCm39) probably benign Het
Gucy2c A G 6: 136,697,739 (GRCm39) I668T probably damaging Het
Irgc C T 7: 24,132,851 (GRCm39) probably benign Het
Jsrp1 G T 10: 80,646,030 (GRCm39) S143* probably null Het
Kctd4 T C 14: 76,200,259 (GRCm39) Y77H probably damaging Het
Klhdc1 T A 12: 69,329,924 (GRCm39) I351N probably damaging Het
Klra17 C T 6: 129,851,858 (GRCm39) E5K possibly damaging Het
Mapk8 A T 14: 33,112,686 (GRCm39) V211E probably damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mrc1 T C 2: 14,326,725 (GRCm39) Y1208H probably benign Het
Mrps16 A T 14: 20,441,523 (GRCm39) S94T probably benign Het
Muc5ac A G 7: 141,361,287 (GRCm39) T1533A probably benign Het
Myh10 A T 11: 68,651,518 (GRCm39) D287V probably damaging Het
Obscn T C 11: 58,971,086 (GRCm39) T2476A probably damaging Het
Olfm2 T A 9: 20,579,708 (GRCm39) T356S probably benign Het
Or4f60 T C 2: 111,902,823 (GRCm39) Y35C possibly damaging Het
P2rx2 T A 5: 110,489,694 (GRCm39) N108I probably damaging Het
Pbx4 A T 8: 70,322,820 (GRCm39) T309S probably benign Het
Phyhip C A 14: 70,704,295 (GRCm39) H171Q probably benign Het
Pou4f3 A G 18: 42,528,819 (GRCm39) E254G probably damaging Het
Pxdn C A 12: 30,052,899 (GRCm39) H845Q probably damaging Het
Rgcc T C 14: 79,529,123 (GRCm39) T111A probably benign Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sgsm1 C A 5: 113,398,905 (GRCm39) E722D possibly damaging Het
Soat1 A T 1: 156,272,181 (GRCm39) D101E probably benign Het
Spag5 T A 11: 78,211,152 (GRCm39) probably null Het
Spata31 A T 13: 65,068,273 (GRCm39) E140D probably damaging Het
Srrm2 T A 17: 24,037,678 (GRCm39) S1537T probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tbc1d4 G T 14: 101,845,412 (GRCm39) T162K possibly damaging Het
Tmem163 A C 1: 127,428,042 (GRCm39) probably benign Het
Tmem43 T C 6: 91,455,240 (GRCm39) V72A probably benign Het
Tmprss11c G A 5: 86,429,993 (GRCm39) T24I possibly damaging Het
Trerf1 A T 17: 47,626,116 (GRCm39) noncoding transcript Het
Trim44 A G 2: 102,230,476 (GRCm39) L185P probably damaging Het
Tspyl1 A G 10: 34,158,341 (GRCm39) D22G possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tyro3 G A 2: 119,635,312 (GRCm39) R201Q probably damaging Het
Ubxn2a T A 12: 4,930,741 (GRCm39) K206N probably benign Het
Usp17lb G T 7: 104,489,615 (GRCm39) H436Q possibly damaging Het
Vps9d1 A G 8: 123,971,853 (GRCm39) I584T possibly damaging Het
Vrk1 T A 12: 106,022,078 (GRCm39) M131K possibly damaging Het
Wdr87-ps A C 7: 29,232,964 (GRCm39) noncoding transcript Het
Zfp827 A T 8: 79,912,333 (GRCm39) K986N possibly damaging Het
Zswim4 A G 8: 84,939,419 (GRCm39) M821T 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
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'- TGCGCAGGTAATATCCTCAGG -3'
(R):5'- TACACAAGTTGGGCCTCTGC -3'

Sequencing Primer
(F):5'- GCAGGTAATATCCTCAGGCTCTCTG -3'
(R):5'- TCCTCAGAGGAGAAGATGGTG -3'
Posted On 2016-09-06