Incidental Mutation 'R5353:Adgrg3'
| ID |
423908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrg3
|
| Ensembl Gene |
ENSMUSG00000060470 |
| Gene Name |
adhesion G protein-coupled receptor G3 |
| Synonyms |
Pb99, A030001G24Rik, Gpr97 |
| MMRRC Submission |
042932-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5353 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95744320-95771878 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95762556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 202
(H202L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051259]
|
| AlphaFold |
Q8R0T6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051259
AA Change: H202L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051079
Gene: ENSMUSG00000060470
AA Change: H202L
| 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 |
unknown
Transcript: ENSMUST00000212570
AA Change: H165L
|
| Meta Mutation Damage Score |
0.8995 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
G |
18: 61,934,470 (GRCm39) |
S649P |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,496 (GRCm39) |
M35L |
probably benign |
Het |
| Anln |
G |
T |
9: 22,271,813 (GRCm39) |
R681S |
probably damaging |
Het |
| Aprt |
A |
T |
8: 123,302,147 (GRCm39) |
M1K |
probably null |
Het |
| Arid3b |
G |
T |
9: 57,702,320 (GRCm39) |
|
probably null |
Het |
| Cbl |
A |
G |
9: 44,084,620 (GRCm39) |
F172L |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,617,521 (GRCm39) |
V1340L |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,928,593 (GRCm39) |
Y148H |
probably damaging |
Het |
| Cog7 |
A |
C |
7: 121,540,470 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
A |
T |
15: 76,486,771 (GRCm39) |
I255N |
probably damaging |
Het |
| Crebzf |
G |
A |
7: 90,092,622 (GRCm39) |
G134R |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,849,661 (GRCm39) |
S1705G |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,726,082 (GRCm39) |
H1409Q |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,478,632 (GRCm39) |
D232G |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,489,168 (GRCm39) |
V3480L |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
G |
T |
1: 174,330,572 (GRCm39) |
G321W |
unknown |
Het |
| Greb1 |
A |
T |
12: 16,738,567 (GRCm39) |
Y1465* |
probably null |
Het |
| Hdac9 |
G |
A |
12: 34,443,392 (GRCm39) |
Q330* |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,354,639 (GRCm39) |
T298I |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,464 (GRCm39) |
D1055G |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,946,660 (GRCm39) |
S487P |
probably damaging |
Het |
| Naa38 |
G |
A |
11: 69,287,408 (GRCm39) |
V110I |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,969,557 (GRCm39) |
H303R |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,222,125 (GRCm38) |
C49R |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,099 (GRCm39) |
V103A |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,324 (GRCm39) |
Y200H |
probably damaging |
Het |
| Ovch2 |
T |
A |
7: 107,393,631 (GRCm39) |
E165V |
probably damaging |
Het |
| Phyh |
A |
T |
2: 4,947,012 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
G |
A |
9: 105,545,137 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
C |
2: 121,142,201 (GRCm39) |
V1416G |
probably benign |
Het |
| Ppm1b |
T |
C |
17: 85,301,537 (GRCm39) |
V139A |
probably benign |
Het |
| Ppp1r12a |
T |
G |
10: 108,097,077 (GRCm39) |
|
probably null |
Het |
| Pramel20 |
A |
G |
4: 143,297,807 (GRCm39) |
T76A |
probably benign |
Het |
| Psmc5 |
G |
T |
11: 106,152,327 (GRCm39) |
A115S |
probably damaging |
Het |
| Ptpn5 |
T |
A |
7: 46,731,642 (GRCm39) |
E409V |
probably benign |
Het |
| Ptprg |
T |
A |
14: 11,554,235 (GRCm38) |
|
probably benign |
Het |
| Qrich1 |
G |
T |
9: 108,422,164 (GRCm39) |
V593F |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,385,741 (GRCm39) |
I175V |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,493,387 (GRCm39) |
F88S |
possibly damaging |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Spred2 |
A |
G |
11: 19,968,155 (GRCm39) |
D208G |
possibly damaging |
Het |
| Surf1 |
T |
C |
2: 26,804,204 (GRCm39) |
T197A |
probably benign |
Het |
| Taco1 |
G |
A |
11: 105,963,539 (GRCm39) |
|
probably null |
Het |
| Tas2r109 |
A |
G |
6: 132,957,594 (GRCm39) |
V112A |
possibly damaging |
Het |
| Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,319,182 (GRCm39) |
I280T |
probably benign |
Het |
| Yipf2 |
A |
G |
9: 21,503,228 (GRCm39) |
Y80H |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,548,178 (GRCm39) |
V120A |
possibly 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 |
|
R5101:Adgrg3
|
UTSW |
8 |
95,763,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CTTGATAGGGCAGGTAAGGTC -3'
(R):5'- CCCACACATTTATGAACATGGGG -3'
Sequencing Primer
(F):5'- GGTAAGGTCAGCCCATCCCATAG -3'
(R):5'- TTCACGTGTGCAGGGCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation