Incidental Mutation 'R6077:Adgre5'
| ID |
482794 |
| 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 |
044238-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84449874-84467812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84454595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 301
(S301P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002964]
[ENSMUST00000019576]
[ENSMUST00000075843]
[ENSMUST00000109802]
[ENSMUST00000109810]
[ENSMUST00000166939]
[ENSMUST00000212949]
[ENSMUST00000140521]
[ENSMUST00000172396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002964
AA Change: S303P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002964
Gene: ENSMUSG00000002885
AA Change: S303P
| 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 benign
Transcript: ENSMUST00000075843
AA Change: S397P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075240
Gene: ENSMUSG00000002885
AA Change: S397P
| 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: S352P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105427
Gene: ENSMUSG00000002885
AA Change: S352P
| 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: ENSMUST00000139797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166939
AA Change: S301P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128220
Gene: ENSMUSG00000002885
AA Change: S301P
| 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 |
noncoding transcript
Transcript: ENSMUST00000140606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184114
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212949
|
| 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 |
|
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
T |
11: 100,410,583 (GRCm39) |
V132I |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,081 (GRCm39) |
L1335* |
probably null |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,525 (GRCm39) |
Y21C |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,071 (GRCm39) |
S112R |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,382,058 (GRCm39) |
|
probably null |
Het |
| Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
| C2cd4d |
A |
T |
3: 94,271,615 (GRCm39) |
R294W |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,220,875 (GRCm39) |
I352V |
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,803,969 (GRCm39) |
S547R |
probably benign |
Het |
| Cdyl2 |
G |
T |
8: 117,316,129 (GRCm39) |
N286K |
probably damaging |
Het |
| Fam186a |
C |
A |
15: 99,840,584 (GRCm39) |
V1887L |
possibly damaging |
Het |
| Fat4 |
C |
T |
3: 39,056,951 (GRCm39) |
R4216C |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,740,663 (GRCm39) |
W361R |
probably damaging |
Het |
| Helz2 |
G |
A |
2: 180,874,831 (GRCm39) |
P1888S |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,833 (GRCm39) |
F840L |
possibly damaging |
Het |
| Kansl2 |
T |
C |
15: 98,429,312 (GRCm39) |
D146G |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,746 (GRCm39) |
V297A |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,982,618 (GRCm39) |
T720A |
possibly damaging |
Het |
| Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
| Large2 |
C |
T |
2: 92,196,915 (GRCm39) |
R423K |
probably benign |
Het |
| Lgals3bp |
A |
G |
11: 118,290,568 (GRCm39) |
V13A |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,837 (GRCm39) |
I381V |
probably benign |
Het |
| Mastl |
A |
T |
2: 23,045,806 (GRCm39) |
I23N |
probably damaging |
Het |
| Mettl23 |
T |
C |
11: 116,739,728 (GRCm39) |
V1A |
possibly damaging |
Het |
| Mindy2 |
A |
G |
9: 70,538,363 (GRCm39) |
V324A |
probably damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,501,845 (GRCm39) |
L633Q |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,102,273 (GRCm39) |
E855K |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,066,006 (GRCm39) |
A2026T |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Or2w1 |
A |
T |
13: 21,317,463 (GRCm39) |
I173F |
probably benign |
Het |
| Otulin |
T |
C |
15: 27,611,696 (GRCm39) |
T166A |
probably benign |
Het |
| P2ry14 |
T |
A |
3: 59,022,798 (GRCm39) |
R230W |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,162,073 (GRCm39) |
E83G |
probably damaging |
Het |
| Raet1e |
C |
A |
10: 22,057,887 (GRCm39) |
T218N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Safb |
G |
A |
17: 56,909,956 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,527,940 (GRCm39) |
N850I |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,381 (GRCm39) |
D297G |
possibly damaging |
Het |
| Tcf7l2 |
A |
T |
19: 55,905,868 (GRCm39) |
K278* |
probably null |
Het |
| Tesmin |
T |
C |
19: 3,439,260 (GRCm39) |
V104A |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
| Tmc4 |
T |
C |
7: 3,670,526 (GRCm39) |
T522A |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,408,141 (GRCm39) |
I274F |
possibly damaging |
Het |
| Topbp1 |
A |
G |
9: 103,210,189 (GRCm39) |
K916E |
probably damaging |
Het |
| Trdv1 |
A |
G |
14: 54,119,513 (GRCm39) |
D58G |
probably benign |
Het |
| Ube2g2 |
G |
T |
10: 77,458,139 (GRCm39) |
|
probably benign |
Het |
| Unc5d |
G |
T |
8: 29,165,335 (GRCm39) |
Q747K |
possibly damaging |
Het |
| Xpo6 |
A |
G |
7: 125,709,124 (GRCm39) |
V819A |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,412,559 (GRCm39) |
|
probably benign |
Het |
| Zfp317 |
T |
A |
9: 19,558,184 (GRCm39) |
W133R |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAGGCGAGCTTTTCAGTG -3'
(R):5'- ATGTTACCACAGTGCACCAC -3'
Sequencing Primer
(F):5'- GTTCGTGTTGGTCAGGAAGAC -3'
(R):5'- GTGCACCACGGCCAAACTTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation