Incidental Mutation 'IGL02617:Adgrg5'
ID |
300695 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adgrg5
|
Ensembl Gene |
ENSMUSG00000061577 |
Gene Name |
adhesion G protein-coupled receptor G5 |
Synonyms |
Gpr114, PGR27, LOC382045 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02617
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
95650322-95669908 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95660610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 79
(D79G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074570]
[ENSMUST00000128308]
[ENSMUST00000153448]
[ENSMUST00000166802]
|
AlphaFold |
Q3V3Z3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074570
AA Change: D83G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000074155 Gene: ENSMUSG00000061577 AA Change: D83G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
87 |
95 |
N/A |
INTRINSIC |
GPS
|
181 |
234 |
4.7e-13 |
SMART |
Pfam:7tm_2
|
240 |
494 |
2.1e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128308
AA Change: D79G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000120217 Gene: ENSMUSG00000061577 AA Change: D79G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
83 |
91 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142991
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153448
|
SMART Domains |
Protein: ENSMUSP00000122780 Gene: ENSMUSG00000061577
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166802
AA Change: D83G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000132628 Gene: ENSMUSG00000061577 AA Change: D83G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
87 |
95 |
N/A |
INTRINSIC |
GPS
|
181 |
234 |
1.37e-14 |
SMART |
Pfam:7tm_2
|
241 |
495 |
1.3e-36 |
PFAM |
|
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 adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,394,807 (GRCm39) |
Q172* |
probably null |
Het |
Aga |
G |
A |
8: 53,973,348 (GRCm39) |
D249N |
possibly damaging |
Het |
Aifm3 |
A |
G |
16: 17,318,397 (GRCm39) |
Q170R |
probably null |
Het |
Cdh2 |
T |
A |
18: 16,760,661 (GRCm39) |
N512Y |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,472,648 (GRCm39) |
I385T |
probably benign |
Het |
Clic6 |
A |
G |
16: 92,296,206 (GRCm39) |
K289E |
probably benign |
Het |
Ctcf |
G |
T |
8: 106,403,842 (GRCm39) |
|
probably benign |
Het |
Fat1 |
T |
C |
8: 45,488,628 (GRCm39) |
Y3447H |
probably benign |
Het |
Fhip1a |
A |
T |
3: 85,580,344 (GRCm39) |
D620E |
probably benign |
Het |
Fmo2 |
T |
A |
1: 162,704,490 (GRCm39) |
Q472L |
probably damaging |
Het |
Gcnt3 |
C |
A |
9: 69,941,444 (GRCm39) |
G375W |
probably damaging |
Het |
Golga3 |
T |
A |
5: 110,336,612 (GRCm39) |
V417E |
probably benign |
Het |
Hivep3 |
T |
C |
4: 119,952,641 (GRCm39) |
L319P |
probably benign |
Het |
Kctd13 |
A |
G |
7: 126,541,504 (GRCm39) |
K248R |
possibly damaging |
Het |
Magel2 |
G |
A |
7: 62,029,946 (GRCm39) |
R950H |
unknown |
Het |
Niban1 |
T |
A |
1: 151,447,296 (GRCm39) |
S6T |
probably benign |
Het |
Nmt2 |
A |
G |
2: 3,315,750 (GRCm39) |
I247V |
probably benign |
Het |
Or14a256 |
T |
G |
7: 86,264,872 (GRCm39) |
H327P |
probably benign |
Het |
Or1e30 |
T |
A |
11: 73,678,560 (GRCm39) |
N265K |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,570,099 (GRCm39) |
V415A |
probably benign |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Prr27 |
T |
A |
5: 87,990,518 (GRCm39) |
N43K |
probably benign |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Sec24a |
A |
T |
11: 51,603,014 (GRCm39) |
|
probably null |
Het |
Srek1ip1 |
C |
A |
13: 104,973,984 (GRCm39) |
H130Q |
possibly damaging |
Het |
Trio |
C |
T |
15: 27,841,935 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,608,614 (GRCm39) |
|
probably benign |
Het |
Vmn2r65 |
C |
A |
7: 84,589,549 (GRCm39) |
S789I |
probably damaging |
Het |
Zbtb17 |
A |
G |
4: 141,192,399 (GRCm39) |
Q448R |
probably damaging |
Het |
|
Other mutations in Adgrg5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01340:Adgrg5
|
APN |
8 |
95,664,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0483:Adgrg5
|
UTSW |
8 |
95,660,136 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0539:Adgrg5
|
UTSW |
8 |
95,665,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R0580:Adgrg5
|
UTSW |
8 |
95,663,972 (GRCm39) |
critical splice donor site |
probably null |
|
R0650:Adgrg5
|
UTSW |
8 |
95,660,785 (GRCm39) |
critical splice donor site |
probably null |
|
R0652:Adgrg5
|
UTSW |
8 |
95,660,785 (GRCm39) |
critical splice donor site |
probably null |
|
R0828:Adgrg5
|
UTSW |
8 |
95,668,413 (GRCm39) |
splice site |
probably null |
|
R1546:Adgrg5
|
UTSW |
8 |
95,668,258 (GRCm39) |
missense |
probably benign |
0.27 |
R1567:Adgrg5
|
UTSW |
8 |
95,664,326 (GRCm39) |
missense |
probably damaging |
0.97 |
R1695:Adgrg5
|
UTSW |
8 |
95,664,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R1753:Adgrg5
|
UTSW |
8 |
95,668,680 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1852:Adgrg5
|
UTSW |
8 |
95,664,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Adgrg5
|
UTSW |
8 |
95,661,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R2051:Adgrg5
|
UTSW |
8 |
95,668,695 (GRCm39) |
missense |
probably benign |
0.01 |
R2190:Adgrg5
|
UTSW |
8 |
95,660,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R2299:Adgrg5
|
UTSW |
8 |
95,665,204 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2568:Adgrg5
|
UTSW |
8 |
95,660,649 (GRCm39) |
missense |
probably damaging |
0.99 |
R4283:Adgrg5
|
UTSW |
8 |
95,664,326 (GRCm39) |
missense |
probably benign |
0.21 |
R4512:Adgrg5
|
UTSW |
8 |
95,660,652 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4825:Adgrg5
|
UTSW |
8 |
95,668,362 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5422:Adgrg5
|
UTSW |
8 |
95,660,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R5427:Adgrg5
|
UTSW |
8 |
95,661,730 (GRCm39) |
missense |
probably benign |
0.27 |
R6186:Adgrg5
|
UTSW |
8 |
95,660,652 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6522:Adgrg5
|
UTSW |
8 |
95,668,696 (GRCm39) |
missense |
probably benign |
0.13 |
R6608:Adgrg5
|
UTSW |
8 |
95,668,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R6810:Adgrg5
|
UTSW |
8 |
95,660,570 (GRCm39) |
missense |
probably damaging |
0.97 |
R6816:Adgrg5
|
UTSW |
8 |
95,668,311 (GRCm39) |
missense |
probably damaging |
0.99 |
R7214:Adgrg5
|
UTSW |
8 |
95,660,646 (GRCm39) |
missense |
|
|
R7686:Adgrg5
|
UTSW |
8 |
95,664,430 (GRCm39) |
missense |
|
|
R7955:Adgrg5
|
UTSW |
8 |
95,664,325 (GRCm39) |
missense |
|
|
R9383:Adgrg5
|
UTSW |
8 |
95,661,162 (GRCm39) |
missense |
|
|
R9653:Adgrg5
|
UTSW |
8 |
95,663,864 (GRCm39) |
missense |
|
|
R9729:Adgrg5
|
UTSW |
8 |
95,668,133 (GRCm39) |
missense |
|
|
X0027:Adgrg5
|
UTSW |
8 |
95,663,966 (GRCm39) |
missense |
probably benign |
0.07 |
Z1176:Adgrg5
|
UTSW |
8 |
95,661,779 (GRCm39) |
missense |
|
|
|
Posted On |
2015-04-16 |