Incidental Mutation 'IGL01365:Adgre5'
ID |
75911 |
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 # |
IGL01365
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
84449874-84467812 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 84450518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132222
(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 null
Transcript: ENSMUST00000002964
AA Change: S720*
|
SMART Domains |
Protein: ENSMUSP00000002964 Gene: ENSMUSG00000002885 AA Change: S720*
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 null
Transcript: ENSMUST00000075843
AA Change: S814*
|
SMART Domains |
Protein: ENSMUSP00000075240 Gene: ENSMUSG00000002885 AA Change: S814*
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 null
Transcript: ENSMUST00000109802
AA Change: S769*
|
SMART Domains |
Protein: ENSMUSP00000105427 Gene: ENSMUSG00000002885 AA Change: S769*
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 |
probably null
Transcript: ENSMUST00000166939
AA Change: S718*
|
SMART Domains |
Protein: ENSMUSP00000128220 Gene: ENSMUSG00000002885 AA Change: S718*
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: ENSMUST00000140606
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184114
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138789
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154075
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212949
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139797
|
Predicted Effect |
probably null
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
T |
C |
10: 85,469,680 (GRCm39) |
V867A |
possibly damaging |
Het |
Agtr1a |
A |
G |
13: 30,565,811 (GRCm39) |
Y292C |
probably damaging |
Het |
CK137956 |
A |
G |
4: 127,845,135 (GRCm39) |
S203P |
probably benign |
Het |
Cnbd1 |
C |
T |
4: 18,860,576 (GRCm39) |
G390D |
probably damaging |
Het |
Cttnbp2nl |
T |
C |
3: 104,912,346 (GRCm39) |
T513A |
probably damaging |
Het |
Dppa2 |
A |
G |
16: 48,134,276 (GRCm39) |
K67R |
possibly damaging |
Het |
Kif3a |
A |
G |
11: 53,484,350 (GRCm39) |
K486E |
possibly damaging |
Het |
Lmnb2 |
G |
T |
10: 80,740,818 (GRCm39) |
Q151K |
probably benign |
Het |
Lmtk3 |
T |
A |
7: 45,440,331 (GRCm39) |
L223Q |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,937,449 (GRCm39) |
I901T |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,284,962 (GRCm39) |
Y3624C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,216,089 (GRCm39) |
Y428* |
probably null |
Het |
Myb |
A |
G |
10: 21,028,401 (GRCm39) |
I154T |
probably benign |
Het |
Or14a256 |
T |
C |
7: 86,265,205 (GRCm39) |
Y216C |
probably damaging |
Het |
Parp9 |
C |
T |
16: 35,768,324 (GRCm39) |
T168I |
possibly damaging |
Het |
Pramel7 |
T |
C |
2: 87,321,757 (GRCm39) |
|
probably benign |
Het |
Ptar1 |
T |
A |
19: 23,683,165 (GRCm39) |
W140R |
probably damaging |
Het |
Sec14l2 |
G |
T |
11: 4,048,317 (GRCm39) |
D400E |
probably benign |
Het |
Setd3 |
A |
T |
12: 108,124,165 (GRCm39) |
Y175N |
probably damaging |
Het |
Slc5a8 |
C |
T |
10: 88,727,959 (GRCm39) |
|
probably benign |
Het |
Slc8a3 |
A |
G |
12: 81,362,150 (GRCm39) |
V223A |
probably damaging |
Het |
Srsf1 |
G |
T |
11: 87,940,007 (GRCm39) |
R173L |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,100,878 (GRCm39) |
|
probably null |
Het |
Tead2 |
T |
A |
7: 44,866,675 (GRCm39) |
D11E |
probably damaging |
Het |
Trappc12 |
T |
A |
12: 28,797,401 (GRCm39) |
I44F |
probably damaging |
Het |
Ttll9 |
T |
C |
2: 152,842,054 (GRCm39) |
Y303H |
possibly damaging |
Het |
Vmn1r28 |
T |
A |
6: 58,242,176 (GRCm39) |
N6K |
possibly 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 |
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 |
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 |
2013-10-07 |