Incidental Mutation 'R5860:Adgre1'
ID |
453875 |
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 |
044072-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R5860 (G1)
|
Quality Score |
189 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57665691-57790527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57752034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 594
(I594N)
|
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: I594N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000004850 Gene: ENSMUSG00000004730 AA Change: I594N
Domain | Start | End | E-Value | Type |
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: I594N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083971 Gene: ENSMUSG00000004730 AA Change: I594N
Domain | Start | End | E-Value | Type |
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 |
0.4430 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.8%
|
Validation Efficiency |
97% (75/77) |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568A12Rik |
A |
G |
1: 34,524,661 (GRCm39) |
|
noncoding transcript |
Het |
A2ml1 |
T |
C |
6: 128,518,024 (GRCm39) |
T1421A |
probably benign |
Het |
Actr8 |
T |
A |
14: 29,708,242 (GRCm39) |
Y150* |
probably null |
Het |
Adamts1 |
A |
G |
16: 85,595,432 (GRCm39) |
C249R |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,669,344 (GRCm39) |
L119H |
probably damaging |
Het |
Atf6 |
G |
A |
1: 170,669,345 (GRCm39) |
L119F |
possibly damaging |
Het |
B3gat2 |
G |
A |
1: 23,854,400 (GRCm39) |
W33* |
probably null |
Het |
Bach2 |
A |
G |
4: 32,580,268 (GRCm39) |
D831G |
probably damaging |
Het |
Ccnk |
A |
T |
12: 108,153,466 (GRCm39) |
I76F |
probably damaging |
Het |
Cdyl |
A |
C |
13: 36,042,066 (GRCm39) |
K368T |
possibly damaging |
Het |
Chi3l1 |
A |
G |
1: 134,112,909 (GRCm39) |
T114A |
probably benign |
Het |
Cnppd1 |
A |
G |
1: 75,113,131 (GRCm39) |
V379A |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,159 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
T |
C |
2: 91,854,399 (GRCm39) |
S18G |
probably benign |
Het |
Crybg3 |
A |
C |
16: 59,385,632 (GRCm39) |
D197E |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,527 (GRCm39) |
|
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,950,080 (GRCm39) |
C146R |
probably damaging |
Het |
Cyp2c39 |
A |
T |
19: 39,525,270 (GRCm39) |
D191V |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,421,242 (GRCm39) |
A393T |
probably damaging |
Het |
Dhx30 |
G |
A |
9: 109,913,645 (GRCm39) |
T1126I |
probably damaging |
Het |
Dock2 |
C |
T |
11: 34,206,562 (GRCm39) |
G1345R |
probably damaging |
Het |
Dsc1 |
T |
C |
18: 20,228,081 (GRCm39) |
E425G |
probably damaging |
Het |
Dynlt2b |
A |
G |
16: 32,247,614 (GRCm39) |
Y143C |
probably damaging |
Het |
Exosc8 |
C |
T |
3: 54,642,463 (GRCm39) |
|
probably benign |
Het |
Fat1 |
C |
T |
8: 45,504,166 (GRCm39) |
A4553V |
probably benign |
Het |
Flnb |
T |
A |
14: 7,931,135 (GRCm38) |
L2119Q |
probably damaging |
Het |
Fnbp4 |
T |
A |
2: 90,587,826 (GRCm39) |
D401E |
probably benign |
Het |
Glyctk |
T |
C |
9: 106,032,906 (GRCm39) |
E369G |
possibly damaging |
Het |
Gm14149 |
C |
A |
2: 151,066,225 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
T |
C |
9: 118,387,174 (GRCm39) |
L1432P |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,023,196 (GRCm39) |
S623T |
probably benign |
Het |
Insc |
A |
C |
7: 114,390,383 (GRCm39) |
S85R |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,821,496 (GRCm39) |
R126H |
probably damaging |
Het |
M1ap |
T |
A |
6: 82,980,795 (GRCm39) |
L227Q |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,067,187 (GRCm39) |
I569T |
probably damaging |
Het |
Mbd1 |
C |
A |
18: 74,409,768 (GRCm39) |
C339* |
probably null |
Het |
Moxd2 |
T |
A |
6: 40,857,341 (GRCm39) |
Y473F |
probably damaging |
Het |
Mrgpra6 |
T |
C |
7: 46,839,099 (GRCm39) |
H2R |
probably benign |
Het |
Mtus1 |
T |
G |
8: 41,529,303 (GRCm39) |
L742F |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,270,160 (GRCm39) |
Y21H |
probably benign |
Het |
Notch4 |
G |
T |
17: 34,801,392 (GRCm39) |
C1080F |
probably damaging |
Het |
Nsd3 |
C |
A |
8: 26,156,107 (GRCm39) |
P558Q |
probably damaging |
Het |
Oas1e |
A |
T |
5: 120,930,015 (GRCm39) |
S168T |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,234,285 (GRCm39) |
S119P |
probably damaging |
Het |
Or2y15 |
A |
G |
11: 49,350,563 (GRCm39) |
D19G |
probably damaging |
Het |
Or8g20 |
T |
A |
9: 39,395,767 (GRCm39) |
M261L |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,631,504 (GRCm39) |
I1135T |
possibly damaging |
Het |
Prex1 |
G |
A |
2: 166,486,604 (GRCm39) |
|
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,486 (GRCm39) |
|
probably benign |
Het |
Rapsn |
T |
C |
2: 90,875,859 (GRCm39) |
V359A |
probably damaging |
Het |
Ric1 |
A |
G |
19: 29,577,245 (GRCm39) |
S1050G |
possibly damaging |
Het |
Rnft2 |
A |
G |
5: 118,366,868 (GRCm39) |
I290T |
possibly damaging |
Het |
Senp7 |
C |
A |
16: 55,975,722 (GRCm39) |
A476E |
possibly damaging |
Het |
Serpinh1 |
G |
A |
7: 98,995,571 (GRCm39) |
S337L |
probably damaging |
Het |
Slc5a12 |
C |
A |
2: 110,427,969 (GRCm39) |
A8D |
probably benign |
Het |
Smg5 |
T |
A |
3: 88,250,214 (GRCm39) |
C109S |
probably damaging |
Het |
Speer4b |
T |
C |
5: 27,705,226 (GRCm39) |
H49R |
possibly damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,664 (GRCm39) |
I89V |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,648,399 (GRCm39) |
|
probably null |
Het |
Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
Tpgs1 |
G |
A |
10: 79,505,545 (GRCm39) |
G101D |
probably damaging |
Het |
Trim13 |
T |
G |
14: 61,842,188 (GRCm39) |
S68R |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,620,053 (GRCm39) |
N1577S |
|
Het |
Vwf |
G |
T |
6: 125,656,228 (GRCm39) |
|
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,207,868 (GRCm39) |
|
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
Het |
Zftraf1 |
T |
C |
15: 76,540,615 (GRCm39) |
Y101C |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably damaging |
Het |
|
Other mutations in Adgre1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- GTAGTCCGACACCAGATCAAGC -3'
(R):5'- AGACACAAGATGGTCTGCC -3'
Sequencing Primer
(F):5'- CACCACTACAGACTAGAATACAGTAG -3'
(R):5'- CTAGGTTTTAGGCAAGATACTCAGG -3'
|
Posted On |
2017-02-10 |