Incidental Mutation 'R0024:Adgre5'
| ID |
15159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgre5
|
| Ensembl Gene |
ENSMUSG00000002885 |
| Gene Name |
adhesion G protein-coupled receptor E5 |
| Synonyms |
EGF-TM7 receptor, Cd97 |
| MMRRC Submission |
038319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0024 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84449874-84467812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84454913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 260
(T260A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002964]
[ENSMUST00000019576]
[ENSMUST00000075843]
[ENSMUST00000109802]
[ENSMUST00000109810]
[ENSMUST00000166939]
[ENSMUST00000212949]
[ENSMUST00000172396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002964
AA Change: T262A
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002964
Gene: ENSMUSG00000002885
AA Change: T262A
| 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: T356A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075240
Gene: ENSMUSG00000002885
AA Change: T356A
| 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: T311A
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105427
Gene: ENSMUSG00000002885
AA Change: T311A
| 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: ENSMUST00000139797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140606
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166939
AA Change: T260A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128220
Gene: ENSMUSG00000002885
AA Change: T260A
| 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 |
noncoding transcript
Transcript: ENSMUST00000154075
|
| 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 |
|
| Meta Mutation Damage Score |
0.3010 |
| Coding Region Coverage |
- 1x: 79.2%
- 3x: 69.7%
- 10x: 44.0%
- 20x: 23.5%
|
| Validation Efficiency |
95% (75/79) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Akip1 |
T |
C |
7: 109,303,345 (GRCm39) |
S63P |
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,580 (GRCm39) |
P254S |
possibly damaging |
Het |
| Aqp8 |
T |
C |
7: 123,066,663 (GRCm39) |
I256T |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
| Astn1 |
G |
A |
1: 158,511,785 (GRCm39) |
S1209N |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,576,818 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
| Cadm4 |
T |
C |
7: 24,202,169 (GRCm39) |
L336P |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,123,866 (GRCm39) |
H1131R |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 27,999,586 (GRCm39) |
|
probably benign |
Het |
| Dscam |
G |
A |
16: 96,394,585 (GRCm39) |
R1906* |
probably null |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,869,340 (GRCm39) |
T676A |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,420,507 (GRCm39) |
M428T |
probably benign |
Het |
| Fry |
T |
G |
5: 150,304,268 (GRCm39) |
S553A |
probably benign |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Gm14340 |
T |
A |
2: 180,466,043 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9457 |
A |
C |
8: 4,863,131 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,401,687 (GRCm39) |
T473A |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
| Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,828 (GRCm39) |
T164A |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,955,109 (GRCm39) |
Y701N |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,133,399 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,303 (GRCm39) |
I79N |
possibly damaging |
Het |
| Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rsc1a1 |
T |
C |
4: 141,412,583 (GRCm39) |
K110E |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,025,537 (GRCm39) |
|
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,688,956 (GRCm39) |
|
probably benign |
Het |
| Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,994,756 (GRCm39) |
|
probably null |
Het |
| Ttc27 |
T |
C |
17: 75,077,259 (GRCm39) |
F385L |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
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 |
|
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 |
|
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 |
2012-12-12 |
Incidental Mutation