Incidental Mutation 'R2696:Adgrg3'
ID |
251070 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrg3
|
Ensembl Gene |
ENSMUSG00000060470 |
Gene Name |
adhesion G protein-coupled receptor G3 |
Synonyms |
Pb99, A030001G24Rik, Gpr97 |
MMRRC Submission |
040434-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2696 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
95744320-95771878 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95747702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 65
(N65S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051259]
|
AlphaFold |
Q8R0T6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051259
AA Change: N65S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000051079 Gene: ENSMUSG00000060470 AA Change: N65S
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: ENSMUST00000211994
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212558
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212951
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,668,228 (GRCm39) |
T540S |
probably benign |
Het |
Acp7 |
G |
T |
7: 28,314,001 (GRCm39) |
H369Q |
probably benign |
Het |
Anln |
A |
G |
9: 22,272,259 (GRCm39) |
V620A |
probably benign |
Het |
Atp10a |
T |
A |
7: 58,463,366 (GRCm39) |
S966R |
probably benign |
Het |
Atp8b3 |
T |
A |
10: 80,370,017 (GRCm39) |
Q132L |
possibly damaging |
Het |
Col4a1 |
T |
A |
8: 11,285,092 (GRCm39) |
|
probably null |
Het |
Ddx21 |
T |
C |
10: 62,429,871 (GRCm39) |
H291R |
possibly damaging |
Het |
Dlgap3 |
A |
G |
4: 127,088,416 (GRCm39) |
Y4C |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,278,722 (GRCm39) |
N1106D |
probably benign |
Het |
Esyt1 |
T |
C |
10: 128,352,914 (GRCm39) |
D662G |
probably damaging |
Het |
F830016B08Rik |
T |
A |
18: 60,433,808 (GRCm39) |
V297E |
possibly damaging |
Het |
Faf1 |
T |
A |
4: 109,698,525 (GRCm39) |
N328K |
possibly damaging |
Het |
Gdf3 |
A |
C |
6: 122,583,859 (GRCm39) |
F169L |
probably benign |
Het |
Ifi213 |
G |
A |
1: 173,417,590 (GRCm39) |
T274I |
probably benign |
Het |
Igf2r |
T |
C |
17: 12,914,231 (GRCm39) |
D1746G |
possibly damaging |
Het |
Ighv1-75 |
T |
C |
12: 115,797,826 (GRCm39) |
K32R |
probably benign |
Het |
Ipo8 |
T |
A |
6: 148,698,239 (GRCm39) |
Q594L |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,384,890 (GRCm39) |
I402N |
probably benign |
Het |
Med18 |
G |
A |
4: 132,187,281 (GRCm39) |
R118W |
probably damaging |
Het |
Mmrn2 |
A |
G |
14: 34,120,372 (GRCm39) |
E414G |
probably damaging |
Het |
Myo6 |
A |
G |
9: 80,168,176 (GRCm39) |
T447A |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,279,935 (GRCm39) |
E27G |
probably benign |
Het |
Ngly1 |
T |
C |
14: 16,283,439 (GRCm38) |
L406S |
possibly damaging |
Het |
Or14j1 |
T |
C |
17: 38,145,998 (GRCm39) |
I36T |
probably benign |
Het |
Or51l4 |
A |
G |
7: 103,404,735 (GRCm39) |
I19T |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,629,585 (GRCm39) |
Y156C |
probably damaging |
Het |
Pkd2l1 |
T |
A |
19: 44,145,708 (GRCm39) |
T172S |
probably benign |
Het |
Pknox2 |
G |
A |
9: 36,820,987 (GRCm39) |
R292* |
probably null |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Polr3e |
T |
C |
7: 120,532,600 (GRCm39) |
L212P |
probably damaging |
Het |
Ppp4r4 |
A |
G |
12: 103,547,653 (GRCm39) |
I215M |
possibly damaging |
Het |
Psmg2 |
T |
C |
18: 67,781,288 (GRCm39) |
Y127H |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptp4a1 |
A |
T |
1: 30,985,213 (GRCm39) |
M4K |
probably benign |
Het |
R3hcc1l |
A |
T |
19: 42,552,427 (GRCm39) |
I475L |
possibly damaging |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rsf1 |
GGC |
GGCGGCGGCGGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
Sec63 |
T |
A |
10: 42,659,522 (GRCm39) |
I70N |
probably benign |
Het |
Slc2a5 |
A |
C |
4: 150,205,203 (GRCm39) |
K4T |
probably benign |
Het |
Slc4a3 |
A |
G |
1: 75,532,119 (GRCm39) |
Y939C |
possibly damaging |
Het |
Slc7a15 |
T |
C |
12: 8,579,345 (GRCm39) |
*229W |
probably null |
Het |
Slco1a6 |
C |
A |
6: 142,058,662 (GRCm39) |
G206C |
probably damaging |
Het |
Spata9 |
A |
G |
13: 76,125,895 (GRCm39) |
Q126R |
probably benign |
Het |
Speg |
A |
T |
1: 75,383,570 (GRCm39) |
D1186V |
probably benign |
Het |
Spink5 |
T |
G |
18: 44,115,359 (GRCm39) |
M197R |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,697,363 (GRCm39) |
D1975G |
probably benign |
Het |
Syngap1 |
T |
A |
17: 27,176,385 (GRCm39) |
C224* |
probably null |
Het |
Ttn |
T |
C |
2: 76,698,807 (GRCm39) |
|
probably benign |
Het |
Txnrd1 |
G |
A |
10: 82,721,116 (GRCm39) |
E397K |
probably benign |
Het |
Ugt2b36 |
A |
T |
5: 87,237,344 (GRCm39) |
M313K |
probably damaging |
Het |
Ulk3 |
A |
G |
9: 57,497,724 (GRCm39) |
I74V |
possibly damaging |
Het |
Zcchc4 |
T |
C |
5: 52,953,573 (GRCm39) |
V194A |
probably damaging |
Het |
Zfp27 |
C |
T |
7: 29,595,792 (GRCm39) |
A58T |
possibly damaging |
Het |
Zfp398 |
T |
G |
6: 47,843,879 (GRCm39) |
*512E |
probably null |
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 |
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 |
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'- TGAGGTGGGAATGCCAGTTC -3'
(R):5'- TCCTAATCAGTAGCAACTCTGATGAC -3'
Sequencing Primer
(F):5'- GATGGACCAGCTACCTCTCCTAG -3'
(R):5'- TCAGTAGCAACTCTGATGACCAAGG -3'
|
Posted On |
2014-12-04 |