Incidental Mutation 'R6988:Adgre1'
| ID |
543111 |
| 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: 0.188)
|
| Stock # |
R6988 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57665691-57790527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57715445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 255
(S255F)
|
| 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: S255F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: S255F
| 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 benign
Transcript: ENSMUST00000086763
AA Change: S255F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: S255F
| 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: 99.2%
- 20x: 97.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
G |
4: 137,181,890 (GRCm39) |
L15W |
probably damaging |
Het |
| 4930550C14Rik |
G |
A |
9: 53,323,056 (GRCm39) |
V31I |
possibly damaging |
Het |
| Aadacl4fm4 |
A |
G |
4: 144,412,895 (GRCm39) |
F15S |
probably benign |
Het |
| Aff4 |
T |
G |
11: 53,289,064 (GRCm39) |
S404R |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,283,757 (GRCm39) |
|
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 97,014,757 (GRCm39) |
I1342K |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,908 (GRCm39) |
D626E |
possibly damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,616,348 (GRCm39) |
V332I |
probably benign |
Het |
| AY358078 |
A |
G |
14: 52,063,644 (GRCm39) |
E430G |
probably damaging |
Het |
| B4gat1 |
T |
A |
19: 5,090,462 (GRCm39) |
I395N |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,467,311 (GRCm39) |
I878N |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,394,868 (GRCm39) |
Q745* |
probably null |
Het |
| Ccl19 |
A |
T |
4: 42,754,885 (GRCm39) |
I87N |
probably damaging |
Het |
| Ces2g |
G |
C |
8: 105,690,540 (GRCm39) |
G107A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,902,335 (GRCm39) |
T14A |
unknown |
Het |
| Dnah7a |
T |
C |
1: 53,621,784 (GRCm39) |
I1114V |
possibly damaging |
Het |
| Dnah7c |
T |
C |
1: 46,705,373 (GRCm39) |
I2462T |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,862,249 (GRCm39) |
F208S |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,417 (GRCm39) |
E3993G |
probably damaging |
Het |
| Erv3 |
C |
T |
2: 131,697,886 (GRCm39) |
D158N |
possibly damaging |
Het |
| Exoc6 |
T |
A |
19: 37,597,539 (GRCm39) |
F647I |
probably damaging |
Het |
| Fbrs |
G |
A |
7: 127,078,680 (GRCm39) |
|
probably benign |
Het |
| Fgfr1op2 |
T |
C |
6: 146,491,463 (GRCm39) |
F109L |
probably damaging |
Het |
| Fv1 |
T |
C |
4: 147,953,728 (GRCm39) |
F98S |
possibly damaging |
Het |
| H2-M10.1 |
T |
C |
17: 36,636,484 (GRCm39) |
K107E |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,256,201 (GRCm39) |
Q1436L |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,383 (GRCm39) |
Y79C |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
| Mnt |
C |
A |
11: 74,733,635 (GRCm39) |
|
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,852,883 (GRCm39) |
T112A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,982 (GRCm39) |
D506G |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,263,806 (GRCm39) |
R81* |
probably null |
Het |
| Or6c2 |
T |
A |
10: 129,362,542 (GRCm39) |
S149T |
probably benign |
Het |
| Or6c217 |
G |
C |
10: 129,738,278 (GRCm39) |
F100L |
probably damaging |
Het |
| Pole |
G |
T |
5: 110,477,449 (GRCm39) |
V1863F |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 144,000,577 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,825,363 (GRCm39) |
K636E |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,033,754 (GRCm39) |
Y1151F |
probably benign |
Het |
| Rrad |
A |
G |
8: 105,357,268 (GRCm39) |
V93A |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,221,553 (GRCm39) |
R118* |
probably null |
Het |
| Slc27a3 |
T |
C |
3: 90,293,597 (GRCm39) |
N596S |
probably benign |
Het |
| Snx19 |
C |
A |
9: 30,340,231 (GRCm39) |
D456E |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,127,733 (GRCm39) |
D1759G |
possibly damaging |
Het |
| Supt20 |
T |
C |
3: 54,606,018 (GRCm39) |
S35P |
probably damaging |
Het |
| Syde2 |
G |
T |
3: 145,725,564 (GRCm39) |
R885L |
probably benign |
Het |
| Synm |
G |
A |
7: 67,383,406 (GRCm39) |
L1419F |
probably damaging |
Het |
| Tekt2 |
A |
G |
4: 126,217,236 (GRCm39) |
F221L |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,586,941 (GRCm39) |
I90T |
possibly damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trib2 |
A |
G |
12: 15,865,339 (GRCm39) |
S79P |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,900,969 (GRCm39) |
M1084V |
probably benign |
Het |
| Vmn1r181 |
T |
C |
7: 23,684,272 (GRCm39) |
F246L |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,510 (GRCm39) |
D2G |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,080,716 (GRCm39) |
E1357G |
probably benign |
Het |
| Zhx3 |
A |
G |
2: 160,621,788 (GRCm39) |
M793T |
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 |
|
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'- GTATATGGCTTCATTTCTTCACAGTC -3'
(R):5'- GTGCCAGCTGCTGTAGGC -3'
Sequencing Primer
(F):5'- CCAAGAGTCCAGATGTCTGAGTCTG -3'
(R):5'- CCACTGTAAGCAAGGACA -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation