Incidental Mutation 'IGL01707:Adgre5'
| ID |
104626 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adgre5
|
| Ensembl Gene |
ENSMUSG00000002885 |
| Gene Name |
adhesion G protein-coupled receptor E5 |
| Synonyms |
EGF-TM7 receptor, Cd97 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01707
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84449874-84467812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84450976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 725
(T725S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002964]
[ENSMUST00000019576]
[ENSMUST00000075843]
[ENSMUST00000109802]
[ENSMUST00000109810]
[ENSMUST00000166939]
[ENSMUST00000212949]
[ENSMUST00000172396]
[ENSMUST00000140521]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002964
AA Change: T631S
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000002964
Gene: ENSMUSG00000002885
AA Change: T631S
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
30 |
68 |
1.63e1 |
SMART |
|
EGF_CA
|
69 |
119 |
5.92e-8 |
SMART |
|
EGF_CA
|
120 |
167 |
1.78e-11 |
SMART |
|
GPS
|
384 |
430 |
2.18e-8 |
SMART |
|
Pfam:Dicty_CAR
|
431 |
703 |
1.3e-8 |
PFAM |
|
Pfam:7tm_2
|
432 |
672 |
8.1e-68 |
PFAM |
|
low complexity region
|
704 |
714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019576
|
| SMART Domains |
Protein: ENSMUSP00000019576
Gene: ENSMUSG00000005481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
63 |
264 |
4.06e-54 |
SMART |
|
HELICc
|
300 |
381 |
9.09e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075843
AA Change: T725S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075240
Gene: ENSMUSG00000002885
AA Change: T725S
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
30 |
68 |
1.63e1 |
SMART |
|
EGF_CA
|
69 |
119 |
5.92e-8 |
SMART |
|
EGF_CA
|
165 |
213 |
1.38e-8 |
SMART |
|
EGF_CA
|
214 |
261 |
1.78e-11 |
SMART |
|
GPS
|
478 |
524 |
2.18e-8 |
SMART |
|
Pfam:Dicty_CAR
|
525 |
798 |
4.6e-8 |
PFAM |
|
Pfam:7tm_2
|
526 |
766 |
5.3e-68 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109802
AA Change: T680S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105427
Gene: ENSMUSG00000002885
AA Change: T680S
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
30 |
68 |
1.63e1 |
SMART |
|
EGF_CA
|
69 |
119 |
5.92e-8 |
SMART |
|
EGF_CA
|
120 |
168 |
1.38e-8 |
SMART |
|
EGF_CA
|
169 |
216 |
1.78e-11 |
SMART |
|
GPS
|
433 |
479 |
2.18e-8 |
SMART |
|
Pfam:Dicty_CAR
|
480 |
752 |
5.3e-8 |
PFAM |
|
Pfam:7tm_2
|
481 |
721 |
7.5e-67 |
PFAM |
|
low complexity region
|
753 |
763 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109810
|
| SMART Domains |
Protein: ENSMUSP00000105435
Gene: ENSMUSG00000005481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
63 |
264 |
4.06e-54 |
SMART |
|
HELICc
|
300 |
381 |
9.09e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138789
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166939
AA Change: T629S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128220
Gene: ENSMUSG00000002885
AA Change: T629S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
EGF
|
28 |
66 |
1.63e1 |
SMART |
|
EGF_CA
|
67 |
117 |
5.92e-8 |
SMART |
|
EGF_CA
|
118 |
165 |
1.78e-11 |
SMART |
|
GPS
|
382 |
428 |
2.18e-8 |
SMART |
|
Pfam:Dicty_CAR
|
429 |
701 |
2.1e-7 |
PFAM |
|
Pfam:7tm_2
|
430 |
670 |
1.7e-66 |
PFAM |
|
low complexity region
|
702 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184114
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172396
|
| SMART Domains |
Protein: ENSMUSP00000132222
Gene: ENSMUSG00000005481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
63 |
264 |
4.06e-54 |
SMART |
|
HELICc
|
300 |
381 |
9.09e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140521
|
| SMART Domains |
Protein: ENSMUSP00000116101
Gene: ENSMUSG00000005481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
63 |
208 |
2.82e-21 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype apart from mild granulocytosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,027,879 (GRCm39) |
R404L |
probably damaging |
Het |
| Acot6 |
C |
A |
12: 84,147,763 (GRCm39) |
S6R |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,301 (GRCm39) |
Q222L |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,816,389 (GRCm39) |
K766N |
possibly damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,273 (GRCm39) |
S1387P |
probably damaging |
Het |
| Camk2a |
G |
A |
18: 61,093,122 (GRCm39) |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,928,296 (GRCm39) |
I30V |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,916,178 (GRCm39) |
S150T |
possibly damaging |
Het |
| Cox4i2 |
T |
C |
2: 152,598,956 (GRCm39) |
Y38H |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,276,798 (GRCm39) |
Y867H |
possibly damaging |
Het |
| Dbh |
G |
A |
2: 27,055,556 (GRCm39) |
C10Y |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,106,178 (GRCm39) |
V332A |
probably damaging |
Het |
| Gnb3 |
G |
T |
6: 124,816,652 (GRCm39) |
A11E |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,814,935 (GRCm39) |
R2725G |
probably damaging |
Het |
| Kdm4c |
C |
T |
4: 74,255,164 (GRCm39) |
L573F |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,505,096 (GRCm39) |
Q3404L |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,791,909 (GRCm39) |
H231R |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,895,357 (GRCm39) |
D371V |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,623,440 (GRCm39) |
I705V |
probably benign |
Het |
| Nutm2 |
A |
T |
13: 50,623,753 (GRCm39) |
N150I |
probably damaging |
Het |
| Or51a7 |
T |
C |
7: 102,615,126 (GRCm39) |
I273T |
probably damaging |
Het |
| Or51aa5 |
A |
T |
7: 103,167,141 (GRCm39) |
I150N |
probably damaging |
Het |
| Phb2 |
A |
G |
6: 124,690,998 (GRCm39) |
Q52R |
probably benign |
Het |
| Plekhh1 |
T |
A |
12: 79,125,738 (GRCm39) |
V1258E |
probably benign |
Het |
| Pou2f1 |
A |
T |
1: 165,742,685 (GRCm39) |
N69K |
probably damaging |
Het |
| Rapsn |
T |
A |
2: 90,873,585 (GRCm39) |
M297K |
probably benign |
Het |
| Senp5 |
A |
C |
16: 31,808,588 (GRCm39) |
V195G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,517 (GRCm39) |
V68A |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,631 (GRCm39) |
R1301S |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,837,864 (GRCm39) |
Y1600C |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,864 (GRCm39) |
I864T |
possibly damaging |
Het |
| Wif1 |
T |
A |
10: 120,919,890 (GRCm39) |
|
probably null |
Het |
| Zdhhc15 |
G |
A |
X: 103,609,422 (GRCm39) |
R208C |
probably damaging |
Het |
|
| Other mutations in Adgre5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Adgre5
|
APN |
8 |
84,455,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01365:Adgre5
|
APN |
8 |
84,450,518 (GRCm39) |
splice site |
probably null |
|
|
IGL01661:Adgre5
|
APN |
8 |
84,454,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01760:Adgre5
|
APN |
8 |
84,458,586 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02207:Adgre5
|
APN |
8 |
84,454,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Adgre5
|
APN |
8 |
84,451,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03194:Adgre5
|
APN |
8 |
84,460,647 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
BB001:Adgre5
|
UTSW |
8 |
84,456,029 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
BB011:Adgre5
|
UTSW |
8 |
84,456,029 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
PIT4453001:Adgre5
|
UTSW |
8 |
84,451,089 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0024:Adgre5
|
UTSW |
8 |
84,454,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Adgre5
|
UTSW |
8 |
84,451,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Adgre5
|
UTSW |
8 |
84,458,624 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0485:Adgre5
|
UTSW |
8 |
84,458,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0522:Adgre5
|
UTSW |
8 |
84,456,805 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0940:Adgre5
|
UTSW |
8 |
84,460,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1372:Adgre5
|
UTSW |
8 |
84,454,949 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1617:Adgre5
|
UTSW |
8 |
84,456,806 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1679:Adgre5
|
UTSW |
8 |
84,456,034 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1917:Adgre5
|
UTSW |
8 |
84,455,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1918:Adgre5
|
UTSW |
8 |
84,455,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2072:Adgre5
|
UTSW |
8 |
84,454,433 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2831:Adgre5
|
UTSW |
8 |
84,455,023 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5250:Adgre5
|
UTSW |
8 |
84,460,069 (GRCm39) |
missense |
probably benign |
|
|
R5512:Adgre5
|
UTSW |
8 |
84,455,715 (GRCm39) |
missense |
probably benign |
|
|
R6077:Adgre5
|
UTSW |
8 |
84,454,595 (GRCm39) |
missense |
probably benign |
|
|
R7486:Adgre5
|
UTSW |
8 |
84,450,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Adgre5
|
UTSW |
8 |
84,456,025 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7924:Adgre5
|
UTSW |
8 |
84,456,029 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8388:Adgre5
|
UTSW |
8 |
84,456,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Adgre5
|
UTSW |
8 |
84,452,563 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9625:Adgre5
|
UTSW |
8 |
84,450,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation