Incidental Mutation 'R6186:Adgrg5'
ID |
502178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrg5
|
Ensembl Gene |
ENSMUSG00000061577 |
Gene Name |
adhesion G protein-coupled receptor G5 |
Synonyms |
Gpr114, PGR27, LOC382045 |
MMRRC Submission |
044326-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6186 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
95650322-95669908 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95660652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 93
(V93A)
|
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: V97A
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000074155 Gene: ENSMUSG00000061577 AA Change: V97A
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 |
possibly damaging
Transcript: ENSMUST00000128308
AA Change: V93A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000120217 Gene: ENSMUSG00000061577 AA Change: V93A
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: V97A
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000132628 Gene: ENSMUSG00000061577 AA Change: V97A
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 |
|
Meta Mutation Damage Score |
0.2609 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
G |
10: 10,298,502 (GRCm39) |
S409P |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,552,018 (GRCm39) |
V420I |
probably benign |
Het |
Ankrd36 |
T |
G |
11: 5,593,812 (GRCm39) |
D472E |
possibly damaging |
Het |
Apbb1 |
T |
C |
7: 105,216,933 (GRCm39) |
E250G |
probably damaging |
Het |
Cacna2d4 |
G |
A |
6: 119,258,650 (GRCm39) |
E579K |
possibly damaging |
Het |
Capn7 |
G |
T |
14: 31,092,875 (GRCm39) |
G780W |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,805,394 (GRCm39) |
E2419G |
possibly damaging |
Het |
Cep164 |
A |
T |
9: 45,705,407 (GRCm39) |
S363R |
probably damaging |
Het |
Cfap221 |
T |
A |
1: 119,862,340 (GRCm39) |
I581F |
probably damaging |
Het |
Cog2 |
C |
A |
8: 125,273,425 (GRCm39) |
T588N |
probably damaging |
Het |
Cyp2a5 |
T |
C |
7: 26,542,813 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
Evx1 |
T |
C |
6: 52,291,203 (GRCm39) |
|
probably null |
Het |
Fam186a |
T |
C |
15: 99,845,206 (GRCm39) |
H346R |
unknown |
Het |
Fam53b |
T |
A |
7: 132,317,445 (GRCm39) |
D399V |
possibly damaging |
Het |
Fcho2 |
T |
A |
13: 98,951,591 (GRCm39) |
N9I |
probably benign |
Het |
Fjx1 |
T |
C |
2: 102,281,152 (GRCm39) |
E261G |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Fkbpl |
T |
C |
17: 34,865,153 (GRCm39) |
F307S |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,676,449 (GRCm39) |
I594T |
probably damaging |
Het |
Inpp4b |
T |
A |
8: 82,772,863 (GRCm39) |
V719E |
probably damaging |
Het |
Ldlr |
C |
T |
9: 21,635,055 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,377,968 (GRCm39) |
V1419A |
probably damaging |
Het |
Mapkap1 |
A |
G |
2: 34,453,126 (GRCm39) |
T340A |
possibly damaging |
Het |
Mark2 |
A |
G |
19: 7,260,567 (GRCm39) |
V403A |
probably benign |
Het |
Mast3 |
T |
C |
8: 71,238,127 (GRCm39) |
T521A |
probably damaging |
Het |
Mrtfa |
T |
C |
15: 80,900,853 (GRCm39) |
K546R |
probably damaging |
Het |
Myo1h |
C |
T |
5: 114,457,864 (GRCm39) |
T125I |
possibly damaging |
Het |
Ndufa8 |
A |
G |
2: 35,929,752 (GRCm39) |
V118A |
probably benign |
Het |
Nphs1 |
A |
G |
7: 30,165,059 (GRCm39) |
T551A |
probably damaging |
Het |
Or2k2 |
T |
C |
4: 58,784,948 (GRCm39) |
Y258C |
probably damaging |
Het |
Or4k15c |
T |
A |
14: 50,321,982 (GRCm39) |
D52V |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,746,830 (GRCm39) |
L1343P |
probably benign |
Het |
Pdcd1 |
T |
A |
1: 93,967,846 (GRCm39) |
R202* |
probably null |
Het |
Pramel52-ps |
T |
A |
5: 94,531,835 (GRCm39) |
Y240N |
probably benign |
Het |
Prkab2 |
A |
G |
3: 97,571,307 (GRCm39) |
|
probably null |
Het |
Ptdss2 |
T |
C |
7: 140,734,862 (GRCm39) |
|
probably benign |
Het |
Rap1b |
G |
T |
10: 117,656,457 (GRCm39) |
F78L |
probably damaging |
Het |
Rbl2 |
C |
T |
8: 91,833,358 (GRCm39) |
T711I |
probably damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,035,693 (GRCm39) |
I126T |
probably damaging |
Het |
Rimoc1 |
C |
A |
15: 4,015,851 (GRCm39) |
D238Y |
possibly damaging |
Het |
Rnf123 |
A |
C |
9: 107,947,157 (GRCm39) |
S210A |
possibly damaging |
Het |
Shank1 |
T |
A |
7: 44,001,990 (GRCm39) |
F1228L |
probably benign |
Het |
Spata31f3 |
T |
C |
4: 42,872,000 (GRCm39) |
K125R |
possibly damaging |
Het |
Sumo1 |
C |
A |
1: 59,683,729 (GRCm39) |
V38L |
probably benign |
Het |
Sycp2 |
C |
T |
2: 178,025,353 (GRCm39) |
S363N |
probably damaging |
Het |
Tbx2 |
G |
T |
11: 85,728,672 (GRCm39) |
E352* |
probably null |
Het |
Timm44 |
T |
C |
8: 4,316,824 (GRCm39) |
N270D |
probably damaging |
Het |
Topaz1 |
A |
T |
9: 122,577,891 (GRCm39) |
Q267L |
probably benign |
Het |
Trp63 |
T |
C |
16: 25,695,483 (GRCm39) |
|
probably benign |
Het |
Ushbp1 |
T |
A |
8: 71,843,647 (GRCm39) |
T264S |
possibly damaging |
Het |
Vav3 |
A |
G |
3: 109,423,383 (GRCm39) |
Y334C |
probably damaging |
Het |
Wdr36 |
G |
C |
18: 32,985,954 (GRCm39) |
A553P |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,300,617 (GRCm39) |
I2378K |
probably damaging |
Het |
Zfp276 |
T |
A |
8: 123,982,672 (GRCm39) |
Y145* |
probably null |
Het |
Zfp458 |
T |
C |
13: 67,405,701 (GRCm39) |
E246G |
probably damaging |
Het |
Zfp526 |
A |
G |
7: 24,925,561 (GRCm39) |
T607A |
probably benign |
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 |
IGL02617:Adgrg5
|
APN |
8 |
95,660,610 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTGTCTCCAGATCCTTC -3'
(R):5'- TGTTTACACCAGGGTCCTAAAAGG -3'
Sequencing Primer
(F):5'- CTCCCATTTCTAGGCATATCCACAG -3'
(R):5'- AGGTAACCGTAGCTGCTACCAG -3'
|
Posted On |
2018-02-27 |