Incidental Mutation 'IGL00340:Adgre5'
ID |
5008 |
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 # |
IGL00340
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
84449874-84467812 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84455030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 221
(M221L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002964]
[ENSMUST00000075843]
[ENSMUST00000109802]
[ENSMUST00000166939]
[ENSMUST00000212949]
[ENSMUST00000172396]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002964
AA Change: M223L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000002964 Gene: ENSMUSG00000002885 AA Change: M223L
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: ENSMUST00000075843
AA Change: M317L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000075240 Gene: ENSMUSG00000002885 AA Change: M317L
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 benign
Transcript: ENSMUST00000109802
AA Change: M272L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000105427 Gene: ENSMUSG00000002885 AA Change: M272L
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 |
noncoding transcript
Transcript: ENSMUST00000139797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140606
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154075
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166939
AA Change: M221L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000128220 Gene: ENSMUSG00000002885 AA Change: M221L
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: ENSMUST00000184114
|
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 |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
G |
A |
5: 89,849,525 (GRCm39) |
H632Y |
probably damaging |
Het |
Apba2 |
A |
T |
7: 64,386,689 (GRCm39) |
I439F |
possibly damaging |
Het |
Arid1b |
C |
A |
17: 5,371,559 (GRCm39) |
N632K |
probably damaging |
Het |
Bcas3 |
A |
T |
11: 85,256,417 (GRCm39) |
I60L |
probably damaging |
Het |
Brd9 |
T |
C |
13: 74,086,666 (GRCm39) |
S56P |
probably damaging |
Het |
Ccdc57 |
T |
A |
11: 120,751,295 (GRCm39) |
D925V |
possibly damaging |
Het |
Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
Cdhr3 |
T |
C |
12: 33,102,208 (GRCm39) |
T410A |
probably benign |
Het |
Cimap3 |
A |
G |
3: 105,921,824 (GRCm39) |
V33A |
probably benign |
Het |
Ddx60 |
G |
T |
8: 62,411,680 (GRCm39) |
D511Y |
probably damaging |
Het |
Drc7 |
C |
A |
8: 95,782,629 (GRCm39) |
|
probably benign |
Het |
Dysf |
A |
G |
6: 84,118,933 (GRCm39) |
E1290G |
probably benign |
Het |
Fam168b |
T |
C |
1: 34,875,883 (GRCm39) |
M1V |
probably null |
Het |
Farsa |
A |
G |
8: 85,590,886 (GRCm39) |
K208R |
probably damaging |
Het |
Fnip2 |
A |
G |
3: 79,425,368 (GRCm39) |
|
probably benign |
Het |
Gm17535 |
A |
T |
9: 3,035,111 (GRCm39) |
H170L |
probably benign |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gm5852 |
T |
C |
3: 93,634,501 (GRCm39) |
|
noncoding transcript |
Het |
Gnb2 |
T |
C |
5: 137,528,968 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,373,494 (GRCm39) |
N143S |
probably damaging |
Het |
Hcn1 |
C |
A |
13: 117,739,513 (GRCm39) |
Q92K |
unknown |
Het |
Helb |
T |
C |
10: 119,934,150 (GRCm39) |
I678V |
possibly damaging |
Het |
Hnrnpl |
C |
A |
7: 28,512,798 (GRCm39) |
A118D |
probably damaging |
Het |
Klhl14 |
G |
A |
18: 21,784,921 (GRCm39) |
P169S |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,481,904 (GRCm39) |
|
probably benign |
Het |
Lmod2 |
A |
G |
6: 24,598,051 (GRCm39) |
E57G |
probably damaging |
Het |
Lrch4 |
T |
C |
5: 137,636,009 (GRCm39) |
I300T |
possibly damaging |
Het |
Lrp6 |
A |
G |
6: 134,433,053 (GRCm39) |
V1426A |
probably benign |
Het |
Lrrc39 |
A |
G |
3: 116,364,630 (GRCm39) |
|
probably benign |
Het |
Mamstr |
G |
A |
7: 45,293,709 (GRCm39) |
V262I |
probably benign |
Het |
Mob1b |
A |
T |
5: 88,904,014 (GRCm39) |
T217S |
probably benign |
Het |
Mocs3 |
G |
A |
2: 168,073,411 (GRCm39) |
R286H |
possibly damaging |
Het |
Mpo |
A |
T |
11: 87,693,443 (GRCm39) |
Q27L |
probably benign |
Het |
Ncdn |
A |
T |
4: 126,640,981 (GRCm39) |
D506E |
probably benign |
Het |
Noxa1 |
A |
G |
2: 24,984,914 (GRCm39) |
I8T |
probably benign |
Het |
Oma1 |
G |
T |
4: 103,176,565 (GRCm39) |
A110S |
probably benign |
Het |
Or10a48 |
C |
T |
7: 108,424,280 (GRCm39) |
V309I |
probably benign |
Het |
Or13a18 |
T |
A |
7: 140,190,666 (GRCm39) |
S196T |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,830,346 (GRCm39) |
Y131C |
probably damaging |
Het |
Pde4a |
A |
C |
9: 21,122,357 (GRCm39) |
K694T |
probably benign |
Het |
Phc1 |
A |
G |
6: 122,299,958 (GRCm39) |
|
probably benign |
Het |
Pias1 |
A |
G |
9: 62,830,578 (GRCm39) |
V187A |
probably damaging |
Het |
Pigf |
C |
A |
17: 87,327,876 (GRCm39) |
L130F |
probably null |
Het |
Pkd1 |
G |
T |
17: 24,799,069 (GRCm39) |
V2763L |
probably damaging |
Het |
Potefam1 |
G |
T |
2: 111,051,107 (GRCm39) |
L230I |
probably damaging |
Het |
Ppp1r8 |
T |
C |
4: 132,561,992 (GRCm39) |
Y76C |
probably damaging |
Het |
Ppp6r3 |
C |
A |
19: 3,568,324 (GRCm39) |
G158V |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,698,924 (GRCm39) |
I1136V |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,412,790 (GRCm39) |
I1770V |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,070,185 (GRCm39) |
I148F |
probably damaging |
Het |
Stard3 |
T |
C |
11: 98,268,285 (GRCm39) |
Y239H |
probably damaging |
Het |
Stau1 |
T |
C |
2: 166,792,729 (GRCm39) |
Y412C |
probably benign |
Het |
Sucnr1 |
A |
G |
3: 59,994,053 (GRCm39) |
I194V |
probably benign |
Het |
Tanc1 |
A |
G |
2: 59,621,185 (GRCm39) |
T335A |
possibly damaging |
Het |
Tmem126a |
T |
C |
7: 90,101,963 (GRCm39) |
T79A |
probably benign |
Het |
Trav9-2 |
A |
T |
14: 53,828,840 (GRCm39) |
Y70F |
probably benign |
Het |
Tspear |
A |
G |
10: 77,709,070 (GRCm39) |
E432G |
probably benign |
Het |
Ube2o |
T |
C |
11: 116,435,580 (GRCm39) |
R403G |
probably benign |
Het |
Unc80 |
C |
A |
1: 66,645,618 (GRCm39) |
S1431R |
possibly damaging |
Het |
Usp24 |
G |
A |
4: 106,258,336 (GRCm39) |
C1578Y |
probably damaging |
Het |
Vsig10 |
A |
T |
5: 117,489,652 (GRCm39) |
M473L |
probably benign |
Het |
Xpot |
T |
A |
10: 121,441,549 (GRCm39) |
M559L |
probably benign |
Het |
|
Other mutations in Adgre5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |