Incidental Mutation 'R8223:Adgre1'
ID |
636860 |
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 |
067641-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R8223 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
57665691-57790527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57668692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 18
(W18R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004850
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004850]
[ENSMUST00000086763]
|
AlphaFold |
Q61549 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004850
AA Change: W18R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000004850 Gene: ENSMUSG00000004730 AA Change: W18R
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: W18R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000083971 Gene: ENSMUSG00000004730 AA Change: W18R
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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.2%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
A |
6: 85,620,222 (GRCm39) |
Y2417* |
probably null |
Het |
Apold1 |
T |
A |
6: 134,961,148 (GRCm39) |
S201T |
probably benign |
Het |
Arhgap31 |
G |
A |
16: 38,424,084 (GRCm39) |
P661S |
probably benign |
Het |
Cacfd1 |
T |
C |
2: 26,908,396 (GRCm39) |
V110A |
possibly damaging |
Het |
Capn2 |
A |
G |
1: 182,310,099 (GRCm39) |
|
probably null |
Het |
Chadl |
T |
C |
15: 81,579,335 (GRCm39) |
E98G |
possibly damaging |
Het |
Crxos |
T |
C |
7: 15,631,394 (GRCm39) |
Y31H |
probably benign |
Het |
Cyp4f14 |
A |
C |
17: 33,130,627 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
C |
17: 32,689,839 (GRCm39) |
I95T |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,299,961 (GRCm39) |
E341G |
probably benign |
Het |
Dchs1 |
G |
T |
7: 105,411,824 (GRCm39) |
R1431S |
possibly damaging |
Het |
Dop1a |
T |
A |
9: 86,400,345 (GRCm39) |
H1001Q |
probably damaging |
Het |
Efemp1 |
T |
C |
11: 28,804,528 (GRCm39) |
Y19H |
probably benign |
Het |
Eml1 |
T |
G |
12: 108,502,569 (GRCm39) |
F726V |
probably benign |
Het |
Fdx1 |
A |
T |
9: 51,859,921 (GRCm39) |
D136E |
probably benign |
Het |
Ganab |
A |
T |
19: 8,888,192 (GRCm39) |
D446V |
probably damaging |
Het |
Gusb |
A |
G |
5: 130,018,953 (GRCm39) |
V561A |
probably benign |
Het |
Hcn1 |
A |
T |
13: 118,010,406 (GRCm39) |
D328V |
unknown |
Het |
Hdgfl1 |
A |
G |
13: 26,954,047 (GRCm39) |
Y9H |
probably damaging |
Het |
Hes3 |
T |
A |
4: 152,371,572 (GRCm39) |
S101C |
probably damaging |
Het |
Igkv2-112 |
T |
C |
6: 68,197,579 (GRCm39) |
S84P |
probably benign |
Het |
Ints9 |
C |
T |
14: 65,257,809 (GRCm39) |
P330S |
possibly damaging |
Het |
Kdm7a |
A |
T |
6: 39,126,235 (GRCm39) |
N583K |
probably damaging |
Het |
Klhl10 |
C |
T |
11: 100,338,227 (GRCm39) |
T322M |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,529,216 (GRCm39) |
V1545D |
possibly damaging |
Het |
Laptm5 |
T |
C |
4: 130,653,511 (GRCm39) |
|
probably null |
Het |
Ldlr |
A |
G |
9: 21,658,546 (GRCm39) |
T833A |
probably damaging |
Het |
Llgl1 |
G |
T |
11: 60,593,648 (GRCm39) |
L40F |
possibly damaging |
Het |
Lrrc14 |
T |
C |
15: 76,598,756 (GRCm39) |
L464S |
probably damaging |
Het |
Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
Lysmd3 |
T |
A |
13: 81,817,386 (GRCm39) |
L121H |
|
Het |
Map2 |
T |
C |
1: 66,464,649 (GRCm39) |
S1680P |
probably damaging |
Het |
Med12l |
T |
C |
3: 58,993,784 (GRCm39) |
V583A |
possibly damaging |
Het |
Mfsd4b5 |
A |
G |
10: 39,846,246 (GRCm39) |
Y445H |
probably damaging |
Het |
Morf4l1 |
G |
A |
9: 89,979,475 (GRCm39) |
P169S |
probably benign |
Het |
Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
Ola1 |
A |
G |
2: 72,929,694 (GRCm39) |
L303P |
probably damaging |
Het |
Or1j19 |
T |
A |
2: 36,677,409 (GRCm39) |
Y291N |
|
Het |
Or1o2 |
T |
C |
17: 37,542,727 (GRCm39) |
D178G |
possibly damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,705 (GRCm39) |
I194T |
probably benign |
Het |
Or9i2 |
G |
T |
19: 13,816,225 (GRCm39) |
T104K |
probably damaging |
Het |
Pdlim3 |
A |
T |
8: 46,353,562 (GRCm39) |
H99L |
possibly damaging |
Het |
Plagl2 |
G |
T |
2: 153,073,461 (GRCm39) |
T480N |
probably benign |
Het |
Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,535,499 (GRCm39) |
R422Q |
probably benign |
Het |
Rad18 |
T |
A |
6: 112,664,982 (GRCm39) |
R51* |
probably null |
Het |
Rpap3 |
T |
A |
15: 97,589,185 (GRCm39) |
T250S |
probably benign |
Het |
Serpinb11 |
T |
C |
1: 107,305,262 (GRCm39) |
Y213H |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,686,080 (GRCm39) |
F201L |
possibly damaging |
Het |
Slc25a4 |
A |
G |
8: 46,663,896 (GRCm39) |
S22P |
probably damaging |
Het |
Slfn1 |
T |
A |
11: 83,012,245 (GRCm39) |
N120K |
probably damaging |
Het |
Smok3c |
T |
C |
5: 138,063,655 (GRCm39) |
S381P |
probably benign |
Het |
Sry |
T |
A |
Y: 2,663,204 (GRCm39) |
Q152L |
unknown |
Het |
Taar2 |
T |
A |
10: 23,817,248 (GRCm39) |
W263R |
probably damaging |
Het |
Thnsl1 |
T |
A |
2: 21,216,924 (GRCm39) |
V226E |
probably benign |
Het |
Tmeff2 |
T |
C |
1: 51,172,279 (GRCm39) |
|
probably null |
Het |
Tox |
A |
G |
4: 6,842,408 (GRCm39) |
Y41H |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,194,957 (GRCm39) |
Y994N |
probably damaging |
Het |
Trim9 |
C |
T |
12: 70,297,789 (GRCm39) |
A713T |
probably damaging |
Het |
Tub |
T |
A |
7: 108,628,533 (GRCm39) |
M393K |
probably benign |
Het |
Ube4a |
A |
G |
9: 44,871,333 (GRCm39) |
L22P |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,703,583 (GRCm39) |
K1165R |
probably damaging |
Het |
Usp6nl |
T |
A |
2: 6,435,327 (GRCm39) |
I362K |
probably damaging |
Het |
Vmn1r217 |
T |
C |
13: 23,298,369 (GRCm39) |
I178V |
probably benign |
Het |
Vmn1r45 |
T |
A |
6: 89,910,074 (GRCm39) |
T299S |
probably damaging |
Het |
Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
Xkr8 |
G |
A |
4: 132,458,246 (GRCm39) |
P144L |
probably damaging |
Het |
Zfpm2 |
T |
C |
15: 40,616,355 (GRCm39) |
I35T |
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 |
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'- TTGTTTGAGCATAGCCAACTTTCC -3'
(R):5'- TGCTTCTGCCTTTAACTGGG -3'
Sequencing Primer
(F):5'- TGGGGCATATGATCTTCCCAAGAC -3'
(R):5'- GTCCCACAAAGTATAAGGGTCATCTG -3'
|
Posted On |
2020-07-13 |