Incidental Mutation 'R6149:Adgre1'
ID 489105
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 044296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R6149 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 57665691-57790527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57752018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 589 (K589E)
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: K589E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: K589E

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: K589E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: K589E

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 0.1125 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 99% (69/70)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik T A 1: 161,777,211 (GRCm39) R115S probably benign Het
Adgrv1 A T 13: 81,330,893 (GRCm39) L74Q probably damaging Het
Avil A G 10: 126,842,451 (GRCm39) I77V probably benign Het
Best2 T C 8: 85,739,896 (GRCm39) E57G probably benign Het
Cacna1a T C 8: 85,296,581 (GRCm39) C1200R probably damaging Het
Catsperb T A 12: 101,516,098 (GRCm39) I578K probably damaging Het
Chsy1 A G 7: 65,775,133 (GRCm39) Y154C probably damaging Het
Chuk A G 19: 44,090,270 (GRCm39) V74A probably damaging Het
Ckb T C 12: 111,638,248 (GRCm39) S49G probably damaging Het
Crtac1 A G 19: 42,272,048 (GRCm39) Y632H unknown Het
Ern1 C A 11: 106,296,641 (GRCm39) E770* probably null Het
Fam114a2 A C 11: 57,378,415 (GRCm39) V450G probably benign Het
Fgf15 C T 7: 144,453,506 (GRCm39) Q125* probably null Het
Frem2 A T 3: 53,458,762 (GRCm39) S2036T probably damaging Het
Fxr2 G A 11: 69,540,030 (GRCm39) V296I probably benign Het
Gm15264 C A 3: 94,640,736 (GRCm39) noncoding transcript Het
Ifi213 A T 1: 173,421,581 (GRCm39) S103T probably benign Het
Igkv5-37 T A 6: 69,940,472 (GRCm39) Q57H probably damaging Het
Il1rap A G 16: 26,530,969 (GRCm39) Y435C probably damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Lcor T A 19: 41,573,641 (GRCm39) W799R probably damaging Het
Lnp1 C T 16: 56,737,735 (GRCm39) E118K probably benign Het
Lrif1 A C 3: 106,639,643 (GRCm39) K243Q possibly damaging Het
Lrp1b G T 2: 40,765,165 (GRCm39) probably null Het
Lvrn G A 18: 47,017,499 (GRCm39) V610I probably benign Het
Med1 T C 11: 98,074,679 (GRCm39) K67R possibly damaging Het
Midn T C 10: 79,990,291 (GRCm39) S278P probably damaging Het
Nrap A G 19: 56,377,885 (GRCm39) V35A possibly damaging Het
Nynrin A T 14: 56,091,780 (GRCm39) Q32L possibly damaging Het
Oog1 C T 12: 87,653,043 (GRCm39) T113I possibly damaging Het
Or10ak7 A G 4: 118,791,628 (GRCm39) L139P probably damaging Het
Or10j3 G T 1: 173,031,582 (GRCm39) V220F probably benign Het
Or4x11 C T 2: 89,867,860 (GRCm39) A199V probably benign Het
Or5b21 A T 19: 12,839,723 (GRCm39) I195F probably benign Het
Or6a2 T C 7: 106,600,807 (GRCm39) I87V probably benign Het
Otogl C T 10: 107,717,314 (GRCm39) V386I probably benign Het
Patj A G 4: 98,312,562 (GRCm39) N300S possibly damaging Het
Pcdhb16 T A 18: 37,612,208 (GRCm39) D389E possibly damaging Het
Pdcd6ip T C 9: 113,488,939 (GRCm39) I699V probably benign Het
Pfas A G 11: 68,882,771 (GRCm39) V790A probably benign Het
Plppr4 A T 3: 117,116,043 (GRCm39) C605S probably benign Het
Ppl G A 16: 4,925,460 (GRCm39) Q60* probably null Het
Ppp1r1c A G 2: 79,586,810 (GRCm39) K52R possibly damaging Het
Pramel29 A G 4: 143,933,983 (GRCm39) S375P probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Rpe65 G A 3: 159,319,780 (GRCm39) E217K probably benign Het
Rufy4 T C 1: 74,186,892 (GRCm39) I560T probably benign Het
Ryr2 T C 13: 11,683,903 (GRCm39) S3054G probably benign Het
Serpinb6a A T 13: 34,102,343 (GRCm39) L273H probably damaging Het
Sf3b1 A T 1: 55,046,666 (GRCm39) W293R probably damaging Het
Sik1 A T 17: 32,067,771 (GRCm39) S435T possibly damaging Het
Slc2a12 G T 10: 22,540,401 (GRCm39) M85I probably benign Het
Stk36 T C 1: 74,673,388 (GRCm39) S1094P probably benign Het
Tctn1 A T 5: 122,384,649 (GRCm39) Y393N probably benign Het
Tex9 C T 9: 72,369,282 (GRCm39) probably null Het
Thbs2 A G 17: 14,899,942 (GRCm39) probably null Het
Tmprss7 A T 16: 45,494,268 (GRCm39) C412* probably null Het
Tpp1 T C 7: 105,396,934 (GRCm39) T399A probably benign Het
Trim25 T A 11: 88,906,362 (GRCm39) V387D probably benign Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Vill T G 9: 118,887,482 (GRCm39) V82G possibly damaging Het
Vmn1r189 T C 13: 22,286,054 (GRCm39) D261G probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r111 G A 17: 22,767,796 (GRCm39) T567I probably benign Het
Vmn2r60 A G 7: 41,786,400 (GRCm39) Y401C probably damaging Het
Zc3h11a G A 1: 133,566,613 (GRCm39) R69* probably null 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
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'- CTGCTGAGCTATCTTCCTGG -3'
(R):5'- CTCAGGAAAACATGAATGAGCTACC -3'

Sequencing Primer
(F):5'- GCTATCTTCCTGGCTCTGAAAGAAG -3'
(R):5'- TGAGCTACCAATACTCACCGTAAG -3'
Posted On 2017-10-10