Incidental Mutation 'IGL03171:Adgrf3'
| ID |
411852 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adgrf3
|
| Ensembl Gene |
ENSMUSG00000067642 |
| Gene Name |
adhesion G protein-coupled receptor F3 |
| Synonyms |
Gpr113, LOC381628, PGR23 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
30193431-30205722 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30196294 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 42
(L42Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088117]
[ENSMUST00000125367]
|
| AlphaFold |
Q58Y75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088117
AA Change: L912Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: L912Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
Blast:IG
|
163 |
252 |
2e-20 |
BLAST |
|
Blast:CCP
|
341 |
399 |
1e-6 |
BLAST |
|
low complexity region
|
403 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
483 |
N/A |
INTRINSIC |
|
GPS
|
632 |
684 |
2.68e-17 |
SMART |
|
Pfam:7tm_2
|
687 |
935 |
1e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125367
AA Change: L42Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120958
Gene: ENSMUSG00000067642
AA Change: L42Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
A |
6: 83,162,395 (GRCm38) |
F434Y |
possibly damaging |
Het |
| Adam19 |
G |
T |
11: 46,138,854 (GRCm38) |
A709S |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,241,163 (GRCm38) |
N1264S |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,981,241 (GRCm38) |
K2721T |
probably benign |
Het |
| Efr3b |
C |
T |
12: 3,968,622 (GRCm38) |
A575T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,594,263 (GRCm38) |
E341G |
probably damaging |
Het |
| Ezh2 |
G |
A |
6: 47,540,781 (GRCm38) |
R574* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,110,014 (GRCm38) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,380,809 (GRCm38) |
Y555H |
probably damaging |
Het |
| Gm17175 |
A |
C |
14: 51,571,608 (GRCm38) |
S100R |
probably damaging |
Het |
| Gm4778 |
C |
A |
3: 94,266,455 (GRCm38) |
H257N |
probably benign |
Het |
| Gm527 |
T |
C |
12: 64,921,157 (GRCm38) |
Y118H |
probably damaging |
Het |
| Gm8765 |
T |
A |
13: 50,702,352 (GRCm38) |
S675R |
probably benign |
Het |
| H2-M10.4 |
G |
T |
17: 36,461,250 (GRCm38) |
T202N |
probably damaging |
Het |
| Igf1 |
A |
T |
10: 87,864,821 (GRCm38) |
T36S |
probably damaging |
Het |
| Ints8 |
C |
T |
4: 11,231,702 (GRCm38) |
V428I |
probably benign |
Het |
| Itga6 |
G |
A |
2: 71,841,329 (GRCm38) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,225,498 (GRCm38) |
E1210G |
possibly damaging |
Het |
| Kdm2a |
A |
T |
19: 4,356,764 (GRCm38) |
V134E |
probably damaging |
Het |
| Limch1 |
C |
A |
5: 67,034,194 (GRCm38) |
N947K |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,273 (GRCm38) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,216,364 (GRCm38) |
|
probably benign |
Het |
| Ogg1 |
A |
G |
6: 113,333,414 (GRCm38) |
I274V |
possibly damaging |
Het |
| Ola1 |
A |
T |
2: 73,156,853 (GRCm38) |
I145K |
probably benign |
Het |
| Olfr458 |
G |
A |
6: 42,460,530 (GRCm38) |
T163I |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 10,576,533 (GRCm38) |
V166A |
possibly damaging |
Het |
| Pira2 |
T |
A |
7: 3,842,605 (GRCm38) |
E260V |
probably damaging |
Het |
| Prickle3 |
T |
C |
X: 7,665,287 (GRCm38) |
C277R |
probably damaging |
Het |
| Psen1 |
A |
G |
12: 83,714,864 (GRCm38) |
T147A |
probably damaging |
Het |
| Pxk |
C |
T |
14: 8,151,014 (GRCm38) |
|
probably benign |
Het |
| Scn11a |
G |
A |
9: 119,819,847 (GRCm38) |
P50L |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,345,592 (GRCm38) |
V281L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,739,166 (GRCm38) |
I551T |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,100,540 (GRCm38) |
I281N |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,967,029 (GRCm38) |
K209E |
probably benign |
Het |
| Trip6 |
C |
T |
5: 137,312,884 (GRCm38) |
R190Q |
probably benign |
Het |
| Ttc30a1 |
C |
T |
2: 75,980,507 (GRCm38) |
A411T |
probably benign |
Het |
| Ubqln1 |
T |
A |
13: 58,180,858 (GRCm38) |
E426D |
probably damaging |
Het |
| Zfp607b |
C |
A |
7: 27,693,595 (GRCm38) |
N49K |
possibly damaging |
Het |
|
| Other mutations in Adgrf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03080:Adgrf3
|
APN |
5 |
30,196,829 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0010:Adgrf3
|
UTSW |
5 |
30,205,609 (GRCm38) |
splice site |
probably benign |
|
|
R0042:Adgrf3
|
UTSW |
5 |
30,197,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0140:Adgrf3
|
UTSW |
5 |
30,196,381 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0617:Adgrf3
|
UTSW |
5 |
30,195,080 (GRCm38) |
missense |
probably benign |
0.25 |
|
R0748:Adgrf3
|
UTSW |
5 |
30,196,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1291:Adgrf3
|
UTSW |
5 |
30,199,534 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1330:Adgrf3
|
UTSW |
5 |
30,195,095 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1468:Adgrf3
|
UTSW |
5 |
30,202,229 (GRCm38) |
splice site |
probably benign |
|
|
R1695:Adgrf3
|
UTSW |
5 |
30,203,555 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1716:Adgrf3
|
UTSW |
5 |
30,197,551 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1844:Adgrf3
|
UTSW |
5 |
30,199,213 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1935:Adgrf3
|
UTSW |
5 |
30,202,306 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1936:Adgrf3
|
UTSW |
5 |
30,202,306 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2059:Adgrf3
|
UTSW |
5 |
30,199,491 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2656:Adgrf3
|
UTSW |
5 |
30,196,438 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2913:Adgrf3
|
UTSW |
5 |
30,196,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2914:Adgrf3
|
UTSW |
5 |
30,196,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2987:Adgrf3
|
UTSW |
5 |
30,197,360 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3797:Adgrf3
|
UTSW |
5 |
30,196,823 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R3798:Adgrf3
|
UTSW |
5 |
30,196,823 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R3799:Adgrf3
|
UTSW |
5 |
30,196,823 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R3934:Adgrf3
|
UTSW |
5 |
30,200,434 (GRCm38) |
unclassified |
probably benign |
|
|
R4043:Adgrf3
|
UTSW |
5 |
30,204,362 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4080:Adgrf3
|
UTSW |
5 |
30,197,369 (GRCm38) |
nonsense |
probably null |
|
|
R4575:Adgrf3
|
UTSW |
5 |
30,202,257 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4754:Adgrf3
|
UTSW |
5 |
30,197,617 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4819:Adgrf3
|
UTSW |
5 |
30,198,444 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4893:Adgrf3
|
UTSW |
5 |
30,200,478 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4991:Adgrf3
|
UTSW |
5 |
30,199,148 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5686:Adgrf3
|
UTSW |
5 |
30,197,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5965:Adgrf3
|
UTSW |
5 |
30,205,639 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5997:Adgrf3
|
UTSW |
5 |
30,198,362 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6103:Adgrf3
|
UTSW |
5 |
30,196,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6244:Adgrf3
|
UTSW |
5 |
30,197,533 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6409:Adgrf3
|
UTSW |
5 |
30,197,314 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6575:Adgrf3
|
UTSW |
5 |
30,196,524 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6745:Adgrf3
|
UTSW |
5 |
30,203,603 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6790:Adgrf3
|
UTSW |
5 |
30,196,387 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6813:Adgrf3
|
UTSW |
5 |
30,197,521 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7202:Adgrf3
|
UTSW |
5 |
30,204,380 (GRCm38) |
nonsense |
probably null |
|
|
R7250:Adgrf3
|
UTSW |
5 |
30,195,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7353:Adgrf3
|
UTSW |
5 |
30,198,497 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7634:Adgrf3
|
UTSW |
5 |
30,202,247 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7658:Adgrf3
|
UTSW |
5 |
30,197,206 (GRCm38) |
missense |
probably benign |
0.41 |
|
R8037:Adgrf3
|
UTSW |
5 |
30,199,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8281:Adgrf3
|
UTSW |
5 |
30,197,303 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8717:Adgrf3
|
UTSW |
5 |
30,198,581 (GRCm38) |
unclassified |
probably benign |
|
|
R8857:Adgrf3
|
UTSW |
5 |
30,197,067 (GRCm38) |
nonsense |
probably null |
|
|
R8926:Adgrf3
|
UTSW |
5 |
30,200,448 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9391:Adgrf3
|
UTSW |
5 |
30,195,073 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9446:Adgrf3
|
UTSW |
5 |
30,196,959 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9522:Adgrf3
|
UTSW |
5 |
30,199,484 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
Z1088:Adgrf3
|
UTSW |
5 |
30,199,120 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2016-08-02 |
Incidental Mutation