Incidental Mutation 'R9236:Adgre1'
| ID |
700513 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R9236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57665691-57790527 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 57709782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 146
(Y146*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004850]
[ENSMUST00000086763]
|
| AlphaFold |
Q61549 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004850
AA Change: Y146*
|
| SMART Domains |
Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: Y146*
| 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 null
Transcript: ENSMUST00000086763
AA Change: Y146*
|
| SMART Domains |
Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: Y146*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,626,712 (GRCm39) |
T1514A |
probably benign |
Het |
| Abcb1b |
G |
A |
5: 8,874,893 (GRCm39) |
|
probably null |
Het |
| Adam12 |
A |
C |
7: 133,614,022 (GRCm39) |
L109R |
probably benign |
Het |
| Ap5m1 |
G |
T |
14: 49,311,064 (GRCm39) |
V45L |
probably benign |
Het |
| Bpifa5 |
A |
T |
2: 154,006,150 (GRCm39) |
I113F |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,600,424 (GRCm39) |
M1639K |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,051 (GRCm39) |
E974G |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,428,125 (GRCm39) |
C980R |
probably damaging |
Het |
| Cggbp1 |
C |
T |
16: 64,676,318 (GRCm39) |
A128V |
probably benign |
Het |
| Col7a1 |
G |
T |
9: 108,789,684 (GRCm39) |
R898L |
unknown |
Het |
| Cycs |
C |
T |
6: 50,543,507 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,938 (GRCm39) |
Y68* |
probably null |
Het |
| Dock9 |
T |
C |
14: 121,876,970 (GRCm39) |
D467G |
probably damaging |
Het |
| Eif2s1 |
A |
T |
12: 78,921,343 (GRCm39) |
I83L |
probably benign |
Het |
| Eppk1 |
T |
A |
15: 75,990,510 (GRCm39) |
R2124* |
probably null |
Het |
| Fkbp15 |
G |
C |
4: 62,254,664 (GRCm39) |
L279V |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,992,460 (GRCm39) |
V412A |
unknown |
Het |
| Gfap |
A |
G |
11: 102,786,327 (GRCm39) |
I194T |
probably damaging |
Het |
| Gpatch2 |
C |
A |
1: 186,965,977 (GRCm39) |
T350K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,490,643 (GRCm39) |
G783D |
possibly damaging |
Het |
| Hipk1 |
A |
T |
3: 103,671,789 (GRCm39) |
W437R |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,809,396 (GRCm39) |
P1136S |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,368,221 (GRCm39) |
N130K |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 64,982,383 (GRCm39) |
I532V |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lrba |
T |
A |
3: 86,261,066 (GRCm39) |
I1474K |
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,186,772 (GRCm39) |
E371G |
unknown |
Het |
| Myo5b |
T |
A |
18: 74,853,934 (GRCm39) |
D1184E |
probably benign |
Het |
| N4bp2l2 |
A |
G |
5: 150,585,479 (GRCm39) |
M167T |
probably benign |
Het |
| N4bp2l2 |
T |
C |
5: 150,585,734 (GRCm39) |
H82R |
probably benign |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,712 (GRCm39) |
E118G |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,492,153 (GRCm39) |
V119E |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Ntmt1 |
T |
A |
2: 30,712,407 (GRCm39) |
L150Q |
probably damaging |
Het |
| Or5b99 |
G |
T |
19: 12,976,763 (GRCm39) |
V138F |
probably damaging |
Het |
| Or7g21 |
A |
G |
9: 19,033,206 (GRCm39) |
*315W |
probably null |
Het |
| Or8b40 |
A |
T |
9: 38,027,496 (GRCm39) |
M140L |
possibly damaging |
Het |
| Or8h7 |
C |
T |
2: 86,720,622 (GRCm39) |
S299N |
probably benign |
Het |
| Osbpl8 |
A |
G |
10: 111,106,496 (GRCm39) |
N301S |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,839,003 (GRCm39) |
S51T |
probably benign |
Het |
| Pitx2 |
A |
G |
3: 129,009,345 (GRCm39) |
K88R |
probably damaging |
Het |
| Pnma8b |
A |
T |
7: 16,679,964 (GRCm39) |
D316V |
unknown |
Het |
| Pop1 |
C |
A |
15: 34,499,558 (GRCm39) |
P41Q |
probably damaging |
Het |
| Rcor1 |
A |
C |
12: 111,070,080 (GRCm39) |
K292N |
|
Het |
| Rps6kc1 |
C |
T |
1: 190,532,200 (GRCm39) |
D601N |
probably damaging |
Het |
| Sema7a |
A |
T |
9: 57,862,408 (GRCm39) |
I204F |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,698,702 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,644,308 (GRCm39) |
T983A |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,194,158 (GRCm39) |
R213* |
probably null |
Het |
| Tbc1d2 |
G |
A |
4: 46,609,029 (GRCm39) |
T736I |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Trip12 |
A |
C |
1: 84,703,550 (GRCm39) |
L1895R |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,594 (GRCm39) |
Y1289F |
probably damaging |
Het |
| Vmn1r70 |
G |
A |
7: 10,368,016 (GRCm39) |
C168Y |
probably damaging |
Het |
| Vtcn1 |
C |
A |
3: 100,795,533 (GRCm39) |
R167S |
probably benign |
Het |
| Zfp369 |
G |
A |
13: 65,445,010 (GRCm39) |
V718I |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,032,354 (GRCm39) |
T529A |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,836,922 (GRCm39) |
N46D |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,610,342 (GRCm39) |
V461A |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,378,312 (GRCm39) |
N1024S |
probably benign |
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 |
|
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 |
|
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'- CTGGGAAAGACTGGATTCTGG -3'
(R):5'- ATACACAAGTTGGGCCTCTGC -3'
Sequencing Primer
(F):5'- AAAGACTGGATTCTGGGAAGTTTG -3'
(R):5'- TCCTCAGAGGAGAAGATGGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation