Incidental Mutation 'R3911:Adgre1'
ID |
309426 |
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 |
040909-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R3911 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57665691-57790527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 57754860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 653
(V653L)
|
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: V653L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000004850 Gene: ENSMUSG00000004730 AA Change: V653L
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: V653L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083971 Gene: ENSMUSG00000004730 AA Change: V653L
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 |
0.4169 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (71/71) |
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 |
Abcb9 |
T |
A |
5: 124,227,909 (GRCm39) |
I111F |
probably benign |
Het |
Abcc12 |
A |
C |
8: 87,255,048 (GRCm39) |
|
probably benign |
Het |
Aebp2 |
T |
A |
6: 140,593,707 (GRCm39) |
D230E |
probably damaging |
Het |
Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
Casp8 |
A |
T |
1: 58,872,864 (GRCm39) |
S267C |
probably damaging |
Het |
Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
Cd2ap |
T |
A |
17: 43,126,980 (GRCm39) |
|
probably null |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Clip1 |
T |
A |
5: 123,728,897 (GRCm39) |
E1155D |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,866,375 (GRCm39) |
E841G |
probably damaging |
Het |
Cntrl |
G |
A |
2: 35,010,061 (GRCm39) |
R245H |
probably damaging |
Het |
Cyp2b23 |
A |
T |
7: 26,380,842 (GRCm39) |
S128T |
probably benign |
Het |
Dhrs11 |
A |
T |
11: 84,712,579 (GRCm39) |
I196N |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
Edc3 |
A |
T |
9: 57,655,686 (GRCm39) |
I479F |
possibly damaging |
Het |
Emg1 |
T |
A |
6: 124,682,009 (GRCm39) |
M172L |
probably benign |
Het |
Epha7 |
G |
A |
4: 28,938,680 (GRCm39) |
V512I |
probably benign |
Het |
Exoc7 |
T |
C |
11: 116,197,731 (GRCm39) |
D27G |
probably benign |
Het |
Fasl |
C |
A |
1: 161,615,760 (GRCm39) |
C32F |
probably benign |
Het |
Flg |
A |
T |
3: 93,187,307 (GRCm39) |
H253L |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
Gm17067 |
T |
A |
7: 42,360,104 (GRCm39) |
I43L |
possibly damaging |
Het |
Gpld1 |
A |
G |
13: 25,146,305 (GRCm39) |
Y183C |
probably damaging |
Het |
Gpr137c |
C |
A |
14: 45,516,392 (GRCm39) |
P327T |
probably benign |
Het |
Hepacam2 |
A |
G |
6: 3,494,477 (GRCm39) |
M1T |
probably null |
Het |
Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
A |
12: 119,131,740 (GRCm39) |
E635V |
possibly damaging |
Het |
Kat14 |
T |
C |
2: 144,245,982 (GRCm39) |
V469A |
probably damaging |
Het |
Kcnj15 |
C |
T |
16: 95,097,329 (GRCm39) |
T317I |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhl18 |
A |
T |
9: 110,265,151 (GRCm39) |
L285Q |
probably damaging |
Het |
Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
Krtap4-8 |
A |
T |
11: 99,670,863 (GRCm39) |
C203S |
unknown |
Het |
Lsp1 |
C |
T |
7: 142,040,098 (GRCm39) |
S75F |
probably damaging |
Het |
Map1b |
A |
G |
13: 99,567,580 (GRCm39) |
S1714P |
unknown |
Het |
Mcm2 |
A |
G |
6: 88,865,234 (GRCm39) |
I481T |
probably damaging |
Het |
Mcpt9 |
T |
C |
14: 56,265,136 (GRCm39) |
T122A |
probably benign |
Het |
Megf10 |
A |
T |
18: 57,422,465 (GRCm39) |
R947W |
probably damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
Or51ai2 |
A |
T |
7: 103,586,616 (GRCm39) |
N10Y |
possibly damaging |
Het |
Pank4 |
A |
G |
4: 155,054,058 (GRCm39) |
Y79C |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,670,171 (GRCm39) |
N386K |
probably benign |
Het |
Pfkm |
A |
G |
15: 98,022,928 (GRCm39) |
M362V |
probably benign |
Het |
Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
Pou4f1 |
C |
T |
14: 104,703,611 (GRCm39) |
A274T |
unknown |
Het |
Proc |
A |
G |
18: 32,256,758 (GRCm39) |
L303P |
probably damaging |
Het |
Ptk2b |
C |
T |
14: 66,394,517 (GRCm39) |
G821D |
possibly damaging |
Het |
Rlim |
T |
C |
X: 103,006,267 (GRCm39) |
T545A |
probably benign |
Het |
Serpinb6c |
T |
C |
13: 34,077,888 (GRCm39) |
N161D |
probably benign |
Het |
Sf3b1 |
G |
A |
1: 55,058,548 (GRCm39) |
Q14* |
probably null |
Het |
Sh3d19 |
G |
A |
3: 86,014,534 (GRCm39) |
V442M |
possibly damaging |
Het |
Slc30a8 |
A |
G |
15: 52,185,097 (GRCm39) |
I140V |
probably benign |
Het |
Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
Strap |
T |
G |
6: 137,712,380 (GRCm39) |
C10G |
probably damaging |
Het |
Tcf7 |
C |
A |
11: 52,173,793 (GRCm39) |
|
probably benign |
Het |
Tmem114 |
A |
T |
16: 8,230,054 (GRCm39) |
M116K |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,988,884 (GRCm39) |
S113P |
probably damaging |
Het |
Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
Tns2 |
T |
C |
15: 102,022,272 (GRCm39) |
|
probably null |
Het |
Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,132,151 (GRCm39) |
V791D |
probably benign |
Het |
Vmn2r99 |
T |
C |
17: 19,614,635 (GRCm39) |
F785S |
possibly damaging |
Het |
Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
Wdr35 |
A |
T |
12: 9,036,077 (GRCm39) |
I283F |
probably benign |
Het |
Wnt10b |
G |
T |
15: 98,672,219 (GRCm39) |
A166E |
possibly 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 |
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 |
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'- GCACAGAGTATCATGGATAACATTC -3'
(R):5'- CAGATGGTGCAGCTGGATAG -3'
Sequencing Primer
(F):5'- TCATGGATAACATTCAGATCATTCTG -3'
(R):5'- CAGCTGGATAGGGGTACACC -3'
|
Posted On |
2015-04-17 |