Incidental Mutation 'R1679:Adgre5'
| ID |
188353 |
| 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 |
039715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1679 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84449874-84467812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84456034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 254
(R254L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002964]
[ENSMUST00000075843]
[ENSMUST00000109802]
[ENSMUST00000149368]
[ENSMUST00000166939]
[ENSMUST00000212949]
[ENSMUST00000172396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002964
AA Change: R160L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000002964
Gene: ENSMUSG00000002885
AA Change: R160L
| 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: R254L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000075240
Gene: ENSMUSG00000002885
AA Change: R254L
| 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: R209L
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000105427
Gene: ENSMUSG00000002885
AA Change: R209L
| 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 |
probably benign
Transcript: ENSMUST00000149368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166939
AA Change: R158L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000128220
Gene: ENSMUSG00000002885
AA Change: R158L
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adam6a |
A |
G |
12: 113,508,376 (GRCm39) |
M250V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,707,671 (GRCm39) |
L525Q |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,688,210 (GRCm39) |
I205F |
probably benign |
Het |
| Bmp5 |
T |
C |
9: 75,746,877 (GRCm39) |
V245A |
probably benign |
Het |
| Capn8 |
T |
C |
1: 182,441,032 (GRCm39) |
S489P |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,533,316 (GRCm39) |
L76P |
probably damaging |
Het |
| Cd164l2 |
A |
G |
4: 132,948,810 (GRCm39) |
T49A |
probably benign |
Het |
| Cdc25c |
T |
C |
18: 34,880,348 (GRCm39) |
T129A |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,761,553 (GRCm39) |
D847G |
probably benign |
Het |
| Crim1 |
G |
A |
17: 78,508,228 (GRCm39) |
A11T |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,832,082 (GRCm39) |
L1449H |
possibly damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,736 (GRCm39) |
K276* |
probably null |
Het |
| Cyp2c50 |
C |
A |
19: 40,099,859 (GRCm39) |
T430K |
possibly damaging |
Het |
| Ddb2 |
C |
T |
2: 91,064,595 (GRCm39) |
R105Q |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,077,543 (GRCm39) |
Y900H |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,914,001 (GRCm39) |
F100L |
probably damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,940,970 (GRCm39) |
G542D |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,843 (GRCm39) |
|
probably null |
Het |
| Gm21886 |
T |
C |
18: 80,132,954 (GRCm39) |
Y68C |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,784,492 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,382,320 (GRCm39) |
T211A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,872,778 (GRCm39) |
D16G |
unknown |
Het |
| Isg20l2 |
T |
A |
3: 87,839,392 (GRCm39) |
M201K |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,314,822 (GRCm39) |
S405R |
probably damaging |
Het |
| Kdsr |
T |
A |
1: 106,680,956 (GRCm39) |
I81F |
probably benign |
Het |
| Leprotl1 |
T |
G |
8: 34,607,986 (GRCm39) |
L7F |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,700,373 (GRCm39) |
I60K |
probably damaging |
Het |
| Mto1 |
A |
G |
9: 78,372,245 (GRCm39) |
T572A |
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,332,396 (GRCm39) |
T2287I |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,422 (GRCm39) |
T40A |
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,746,438 (GRCm39) |
S550P |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,859 (GRCm39) |
N286I |
probably damaging |
Het |
| Phactr1 |
G |
A |
13: 43,210,756 (GRCm39) |
V193I |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,248,257 (GRCm39) |
Y317F |
possibly damaging |
Het |
| Pih1d1 |
T |
C |
7: 44,809,250 (GRCm39) |
|
probably null |
Het |
| Rictor |
T |
C |
15: 6,797,571 (GRCm39) |
I309T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,391 (GRCm39) |
D216G |
probably damaging |
Het |
| Slc20a2 |
T |
G |
8: 23,028,846 (GRCm39) |
S106A |
possibly damaging |
Het |
| Srprb |
A |
G |
9: 103,069,406 (GRCm39) |
|
probably benign |
Het |
| Stx11 |
A |
T |
10: 12,817,580 (GRCm39) |
I48N |
probably damaging |
Het |
| Vmn1r29 |
A |
T |
6: 58,285,003 (GRCm39) |
Y241F |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,192 (GRCm39) |
C347* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,785,956 (GRCm39) |
V361A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGGAGCAGATTCTGGACTTCAAC -3'
(R):5'- TCCTGTACCACTGAATGAGGCCAC -3'
Sequencing Primer
(F):5'- TGTATGAAAAAGTCCAACCTCCTGG -3'
(R):5'- AGTACCTCAGGCCAGAGACTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation