Incidental Mutation 'R5101:Adgrg3'
ID |
392361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrg3
|
Ensembl Gene |
ENSMUSG00000060470 |
Gene Name |
adhesion G protein-coupled receptor G3 |
Synonyms |
Pb99, A030001G24Rik, Gpr97 |
MMRRC Submission |
042852-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5101 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
95744320-95771878 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95763563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 288
(F288S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051259]
|
AlphaFold |
Q8R0T6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051259
AA Change: F288S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000051079 Gene: ENSMUSG00000060470 AA Change: F288S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
GPS
|
209 |
256 |
3.45e-11 |
SMART |
Pfam:7tm_2
|
260 |
509 |
5.1e-33 |
PFAM |
low complexity region
|
520 |
531 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212570
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice display normal B and T cell development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
T |
C |
12: 21,423,406 (GRCm39) |
T10A |
possibly damaging |
Het |
Ago2 |
A |
G |
15: 72,991,339 (GRCm39) |
V533A |
probably damaging |
Het |
Akap9 |
T |
G |
5: 4,051,748 (GRCm39) |
V1505G |
probably damaging |
Het |
Apob |
T |
C |
12: 8,061,934 (GRCm39) |
I3439T |
probably benign |
Het |
C1qtnf7 |
T |
A |
5: 43,773,314 (GRCm39) |
Y204* |
probably null |
Het |
Cdc42bpb |
T |
C |
12: 111,265,549 (GRCm39) |
E1461G |
probably damaging |
Het |
Cdh3 |
C |
T |
8: 107,268,024 (GRCm39) |
A353V |
possibly damaging |
Het |
Clec4d |
A |
G |
6: 123,244,071 (GRCm39) |
Y60C |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,228,111 (GRCm39) |
T2326S |
possibly damaging |
Het |
Cnot1 |
G |
A |
8: 96,486,815 (GRCm39) |
L631F |
possibly damaging |
Het |
Cntnap5a |
C |
T |
1: 116,370,026 (GRCm39) |
T881I |
probably benign |
Het |
Col6a1 |
T |
A |
10: 76,545,740 (GRCm39) |
T911S |
unknown |
Het |
Ctsw |
A |
G |
19: 5,515,703 (GRCm39) |
V287A |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 44,017,622 (GRCm39) |
E2G |
unknown |
Het |
Cytip |
A |
T |
2: 58,037,911 (GRCm39) |
I151N |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,909,577 (GRCm39) |
T4399A |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,846,980 (GRCm39) |
I883N |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,395,608 (GRCm39) |
*530W |
probably null |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gp1ba |
G |
A |
11: 70,532,225 (GRCm39) |
V664M |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,245,913 (GRCm39) |
I481N |
probably damaging |
Het |
Gvin-ps5 |
T |
C |
7: 105,929,096 (GRCm39) |
|
noncoding transcript |
Het |
Ildr2 |
A |
G |
1: 166,135,331 (GRCm39) |
D342G |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,391 (GRCm39) |
I327T |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,588,348 (GRCm39) |
C988* |
probably null |
Het |
Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
Mast4 |
T |
C |
13: 102,872,864 (GRCm39) |
D2168G |
probably benign |
Het |
Myo6 |
G |
T |
9: 80,177,321 (GRCm39) |
E606* |
probably null |
Het |
Nek7 |
A |
G |
1: 138,443,431 (GRCm39) |
V174A |
probably benign |
Het |
Nid1 |
T |
A |
13: 13,658,339 (GRCm39) |
C695S |
probably damaging |
Het |
Nme8 |
A |
G |
13: 19,875,017 (GRCm39) |
|
probably null |
Het |
Nr2c2 |
T |
C |
6: 92,131,497 (GRCm39) |
|
probably null |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2ag18 |
A |
T |
7: 106,405,420 (GRCm39) |
I83K |
possibly damaging |
Het |
Or4x11 |
A |
G |
2: 89,867,391 (GRCm39) |
M43V |
probably benign |
Het |
Or51ab3 |
G |
A |
7: 103,201,150 (GRCm39) |
E53K |
probably damaging |
Het |
Or9g19 |
A |
G |
2: 85,600,268 (GRCm39) |
N41S |
probably damaging |
Het |
Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
Psapl1 |
T |
A |
5: 36,361,494 (GRCm39) |
C29S |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,291,850 (GRCm39) |
V1632D |
probably damaging |
Het |
Slc22a1 |
C |
T |
17: 12,886,129 (GRCm39) |
G168D |
probably damaging |
Het |
Smad4 |
A |
G |
18: 73,808,931 (GRCm39) |
V112A |
probably benign |
Het |
Smc4 |
T |
C |
3: 68,935,845 (GRCm39) |
V796A |
probably benign |
Het |
Smco4 |
A |
G |
9: 15,455,968 (GRCm39) |
E18G |
unknown |
Het |
Spata31e2 |
T |
C |
1: 26,722,417 (GRCm39) |
E921G |
possibly damaging |
Het |
Sugp2 |
A |
G |
8: 70,713,139 (GRCm39) |
E1035G |
probably damaging |
Het |
Syde2 |
T |
C |
3: 145,721,393 (GRCm39) |
S820P |
probably damaging |
Het |
Syn2 |
T |
C |
6: 115,240,860 (GRCm39) |
L410P |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,844,811 (GRCm39) |
N466S |
probably damaging |
Het |
Uba1y |
T |
G |
Y: 821,447 (GRCm39) |
|
probably null |
Het |
Unc79 |
T |
C |
12: 103,078,769 (GRCm39) |
S1645P |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,576,217 (GRCm39) |
S363C |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,571,563 (GRCm39) |
Y458H |
probably damaging |
Het |
|
Other mutations in Adgrg3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01096:Adgrg3
|
APN |
8 |
95,766,221 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01724:Adgrg3
|
APN |
8 |
95,766,053 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02111:Adgrg3
|
APN |
8 |
95,761,627 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02142:Adgrg3
|
APN |
8 |
95,766,483 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02577:Adgrg3
|
APN |
8 |
95,766,555 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02940:Adgrg3
|
APN |
8 |
95,760,084 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL03395:Adgrg3
|
APN |
8 |
95,761,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R0111:Adgrg3
|
UTSW |
8 |
95,761,738 (GRCm39) |
splice site |
probably benign |
|
R0288:Adgrg3
|
UTSW |
8 |
95,766,568 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0403:Adgrg3
|
UTSW |
8 |
95,763,550 (GRCm39) |
missense |
probably benign |
0.07 |
R1553:Adgrg3
|
UTSW |
8 |
95,766,896 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1667:Adgrg3
|
UTSW |
8 |
95,760,001 (GRCm39) |
nonsense |
probably null |
|
R1686:Adgrg3
|
UTSW |
8 |
95,759,997 (GRCm39) |
missense |
probably benign |
0.02 |
R1872:Adgrg3
|
UTSW |
8 |
95,760,070 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1882:Adgrg3
|
UTSW |
8 |
95,766,943 (GRCm39) |
missense |
probably benign |
0.03 |
R1924:Adgrg3
|
UTSW |
8 |
95,762,562 (GRCm39) |
missense |
probably benign |
|
R1998:Adgrg3
|
UTSW |
8 |
95,763,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R2090:Adgrg3
|
UTSW |
8 |
95,766,558 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2696:Adgrg3
|
UTSW |
8 |
95,747,702 (GRCm39) |
missense |
probably benign |
0.01 |
R3846:Adgrg3
|
UTSW |
8 |
95,767,049 (GRCm39) |
missense |
probably benign |
0.07 |
R4013:Adgrg3
|
UTSW |
8 |
95,761,727 (GRCm39) |
splice site |
probably benign |
|
R4405:Adgrg3
|
UTSW |
8 |
95,763,536 (GRCm39) |
missense |
probably benign |
0.15 |
R4622:Adgrg3
|
UTSW |
8 |
95,767,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R4878:Adgrg3
|
UTSW |
8 |
95,761,714 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5309:Adgrg3
|
UTSW |
8 |
95,766,492 (GRCm39) |
missense |
probably benign |
0.00 |
R5312:Adgrg3
|
UTSW |
8 |
95,766,492 (GRCm39) |
missense |
probably benign |
0.00 |
R5353:Adgrg3
|
UTSW |
8 |
95,762,556 (GRCm39) |
missense |
probably damaging |
0.99 |
R5820:Adgrg3
|
UTSW |
8 |
95,766,221 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6240:Adgrg3
|
UTSW |
8 |
95,766,544 (GRCm39) |
missense |
probably benign |
0.23 |
R6272:Adgrg3
|
UTSW |
8 |
95,762,889 (GRCm39) |
missense |
noncoding transcript |
|
R7110:Adgrg3
|
UTSW |
8 |
95,761,591 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7645:Adgrg3
|
UTSW |
8 |
95,761,392 (GRCm39) |
intron |
probably benign |
|
R8178:Adgrg3
|
UTSW |
8 |
95,761,675 (GRCm39) |
missense |
probably damaging |
0.98 |
R8397:Adgrg3
|
UTSW |
8 |
95,767,141 (GRCm39) |
missense |
probably benign |
0.01 |
R8730:Adgrg3
|
UTSW |
8 |
95,766,556 (GRCm39) |
missense |
probably benign |
0.09 |
R8951:Adgrg3
|
UTSW |
8 |
95,761,362 (GRCm39) |
intron |
probably benign |
|
R9100:Adgrg3
|
UTSW |
8 |
95,762,891 (GRCm39) |
intron |
probably benign |
|
R9523:Adgrg3
|
UTSW |
8 |
95,766,186 (GRCm39) |
missense |
probably benign |
0.06 |
R9583:Adgrg3
|
UTSW |
8 |
95,760,071 (GRCm39) |
missense |
probably benign |
0.00 |
R9589:Adgrg3
|
UTSW |
8 |
95,760,093 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0017:Adgrg3
|
UTSW |
8 |
95,744,398 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTGCAGTGGTCCAGCTTC -3'
(R):5'- GTTGGCCAATCTGAGTTGAATTTC -3'
Sequencing Primer
(F):5'- AGCTTCTGTCCCTGGGAGAG -3'
(R):5'- AATCTGAGTTGAATTTCTGCCTC -3'
|
Posted On |
2016-06-15 |