Incidental Mutation 'IGL02483:Adgre5'
ID |
295305 |
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 # |
IGL02483
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
84449874-84467812 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 84451882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 512
(I512L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105427
(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 |
probably damaging
Transcript: ENSMUST00000002964
AA Change: I463L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000002964 Gene: ENSMUSG00000002885 AA Change: I463L
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 |
possibly damaging
Transcript: ENSMUST00000075843
AA Change: I557L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000075240 Gene: ENSMUSG00000002885 AA Change: I557L
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 |
probably damaging
Transcript: ENSMUST00000109802
AA Change: I512L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105427 Gene: ENSMUSG00000002885 AA Change: I512L
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 |
possibly damaging
Transcript: ENSMUST00000166939
AA Change: I461L
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128220 Gene: ENSMUSG00000002885 AA Change: I461L
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: ENSMUST00000139797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184114
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140606
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154075
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212949
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
C |
A |
19: 8,980,672 (GRCm39) |
T652N |
probably benign |
Het |
Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,900,605 (GRCm39) |
H659L |
probably damaging |
Het |
Cad |
A |
G |
5: 31,218,170 (GRCm39) |
|
probably null |
Het |
Car6 |
T |
A |
4: 150,280,586 (GRCm39) |
N86I |
probably damaging |
Het |
Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
Cyp2c39 |
T |
A |
19: 39,525,231 (GRCm39) |
I178N |
probably damaging |
Het |
Cysltr1 |
C |
A |
X: 105,621,728 (GRCm39) |
V253L |
probably damaging |
Het |
Dgcr6 |
G |
A |
16: 17,883,038 (GRCm39) |
A6T |
possibly damaging |
Het |
Dis3l |
T |
C |
9: 64,226,362 (GRCm39) |
|
probably null |
Het |
Erc2 |
T |
A |
14: 27,375,028 (GRCm39) |
L82Q |
probably damaging |
Het |
Ercc6l |
T |
C |
X: 101,188,275 (GRCm39) |
T745A |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,635,990 (GRCm39) |
V54A |
possibly damaging |
Het |
Foxd3 |
C |
T |
4: 99,545,265 (GRCm39) |
S135F |
probably damaging |
Het |
Fut7 |
T |
A |
2: 25,313,888 (GRCm39) |
F21Y |
possibly damaging |
Het |
Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
Gm4950 |
A |
T |
18: 51,998,406 (GRCm39) |
M183K |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
Hpd |
A |
T |
5: 123,320,641 (GRCm39) |
|
probably null |
Het |
Imp4 |
T |
C |
1: 34,483,356 (GRCm39) |
|
probably null |
Het |
Itgbl1 |
A |
T |
14: 124,065,155 (GRCm39) |
|
probably benign |
Het |
Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
Kdr |
C |
T |
5: 76,096,954 (GRCm39) |
|
probably null |
Het |
Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
Lrrc28 |
T |
C |
7: 67,267,731 (GRCm39) |
|
probably benign |
Het |
Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
Map3k8 |
A |
G |
18: 4,349,318 (GRCm39) |
|
probably benign |
Het |
Mcm3 |
A |
G |
1: 20,873,796 (GRCm39) |
S775P |
possibly damaging |
Het |
Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
Nbas |
C |
T |
12: 13,374,295 (GRCm39) |
A541V |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,455,063 (GRCm39) |
Q2578* |
probably null |
Het |
Nlrp4f |
T |
A |
13: 65,342,548 (GRCm39) |
T366S |
probably benign |
Het |
Oma1 |
C |
T |
4: 103,182,309 (GRCm39) |
R271* |
probably null |
Het |
Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
Or4c111 |
G |
T |
2: 88,843,547 (GRCm39) |
T287N |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,903,688 (GRCm39) |
F1058S |
possibly damaging |
Het |
Psen2 |
T |
A |
1: 180,062,626 (GRCm39) |
M239L |
probably damaging |
Het |
Psme3ip1 |
A |
G |
8: 95,315,394 (GRCm39) |
|
probably benign |
Het |
Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,187,861 (GRCm39) |
E506G |
probably damaging |
Het |
Rnpepl1 |
C |
T |
1: 92,843,629 (GRCm39) |
P250S |
probably damaging |
Het |
Sfr1 |
G |
A |
19: 47,721,227 (GRCm39) |
|
probably benign |
Het |
Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
Tmem184a |
T |
C |
5: 139,798,832 (GRCm39) |
E39G |
probably benign |
Het |
Trim66 |
C |
T |
7: 109,076,837 (GRCm39) |
|
probably benign |
Het |
Ugt2b35 |
A |
G |
5: 87,149,004 (GRCm39) |
Y85C |
possibly damaging |
Het |
Uts2r |
G |
T |
11: 121,051,213 (GRCm39) |
G26C |
possibly damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
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 |
IGL01707:Adgre5
|
APN |
8 |
84,450,976 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |