Incidental Mutation 'R2656:Adgrf3'
| ID |
252733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf3
|
| Ensembl Gene |
ENSMUSG00000067642 |
| Gene Name |
adhesion G protein-coupled receptor F3 |
| Synonyms |
Gpr113, LOC381628, PGR23 |
| MMRRC Submission |
040431-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2656 (G1)
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
30193431-30205722 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30196438 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 864
(V864D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088117]
[ENSMUST00000125367]
|
| AlphaFold |
Q58Y75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088117
AA Change: V864D
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: V864D
| 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 benign
Transcript: ENSMUST00000125367
|
| SMART Domains |
Protein: ENSMUSP00000120958
Gene: ENSMUSG00000067642
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,117,696 (GRCm38) |
C655R |
probably damaging |
Het |
| Angptl3 |
A |
G |
4: 99,037,964 (GRCm38) |
I444V |
probably benign |
Het |
| Atp8b2 |
C |
T |
3: 89,941,758 (GRCm38) |
A1090T |
probably benign |
Het |
| Bcl2l2 |
C |
T |
14: 54,885,432 (GRCm38) |
R47C |
probably benign |
Het |
| Ces2a |
G |
A |
8: 104,736,134 (GRCm38) |
M118I |
probably benign |
Het |
| Cyp4a29 |
T |
G |
4: 115,249,724 (GRCm38) |
L193V |
possibly damaging |
Het |
| Dpp8 |
A |
G |
9: 65,080,804 (GRCm38) |
Y877C |
probably damaging |
Het |
| Enpp6 |
C |
T |
8: 47,082,418 (GRCm38) |
R33* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,979,045 (GRCm38) |
D1903N |
possibly damaging |
Het |
| Ggt1 |
T |
A |
10: 75,581,385 (GRCm38) |
Y5* |
probably null |
Het |
| Gm14412 |
A |
T |
2: 177,315,200 (GRCm38) |
C301S |
unknown |
Het |
| Gpatch2l |
T |
A |
12: 86,288,810 (GRCm38) |
D428E |
probably damaging |
Het |
| Grin2b |
C |
T |
6: 135,733,429 (GRCm38) |
G1040S |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,681,828 (GRCm38) |
D126G |
possibly damaging |
Het |
| Itgam |
T |
G |
7: 128,116,815 (GRCm38) |
L1120R |
probably null |
Het |
| Kank4 |
T |
C |
4: 98,778,957 (GRCm38) |
N418D |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,622,671 (GRCm38) |
V355A |
possibly damaging |
Het |
| Lonrf2 |
C |
T |
1: 38,815,960 (GRCm38) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 41,511,581 (GRCm38) |
C240S |
probably damaging |
Het |
| Mapk8ip3 |
T |
G |
17: 24,912,807 (GRCm38) |
E386A |
probably damaging |
Het |
| Mtmr14 |
A |
G |
6: 113,240,366 (GRCm38) |
I80V |
probably benign |
Het |
| Nav2 |
A |
C |
7: 49,545,942 (GRCm38) |
D961A |
probably damaging |
Het |
| Nmt2 |
A |
G |
2: 3,307,013 (GRCm38) |
D107G |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,246,868 (GRCm38) |
K761E |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,348,678 (GRCm38) |
T641A |
probably benign |
Het |
| Ogdhl |
T |
G |
14: 32,332,826 (GRCm38) |
F244V |
possibly damaging |
Het |
| Or2ag17 |
T |
A |
7: 106,790,513 (GRCm38) |
T163S |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 104,011,865 (GRCm38) |
S279L |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,063,984 (GRCm38) |
H191L |
probably benign |
Het |
| Or5b97 |
A |
G |
19: 12,901,666 (GRCm38) |
I38T |
probably benign |
Het |
| Pfpl |
T |
C |
19: 12,430,236 (GRCm38) |
I617T |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,865,407 (GRCm38) |
|
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,503,370 (GRCm38) |
E411G |
probably benign |
Het |
| Prpsap2 |
C |
A |
11: 61,730,225 (GRCm38) |
M343I |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,752,891 (GRCm38) |
V72A |
probably benign |
Het |
| Ranbp17 |
A |
T |
11: 33,243,122 (GRCm38) |
D977E |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,052,176 (GRCm38) |
S238P |
probably damaging |
Het |
| Scap |
C |
T |
9: 110,374,019 (GRCm38) |
R254W |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,526,518 (GRCm38) |
D194G |
probably damaging |
Het |
| Shisa7 |
T |
C |
7: 4,829,819 (GRCm38) |
H481R |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,741,048 (GRCm38) |
Y323H |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,519,315 (GRCm38) |
I568V |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,223,941 (GRCm38) |
S144P |
probably benign |
Het |
| Tmem69 |
T |
A |
4: 116,553,590 (GRCm38) |
K61M |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,941,265 (GRCm38) |
D134G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,894,270 (GRCm38) |
|
probably benign |
Het |
| Vwf |
A |
G |
6: 125,555,361 (GRCm38) |
T26A |
probably benign |
Het |
| Zbtb16 |
A |
T |
9: 48,832,688 (GRCm38) |
I108N |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,780,430 (GRCm38) |
Y497N |
probably damaging |
Het |
| Zfp652 |
A |
G |
11: 95,749,329 (GRCm38) |
S27G |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,172,852 (GRCm38) |
T632A |
possibly damaging |
Het |
| Znhit6 |
T |
C |
3: 145,578,169 (GRCm38) |
|
probably null |
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 |
|
IGL03171:Adgrf3
|
APN |
5 |
30,196,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGGAGGCTGTTGAGAATG -3'
(R):5'- AGCACGTAGTCCTCTCACTG -3'
Sequencing Primer
(F):5'- CTGTTGAGAATGGAAAAGGCGTAGTG -3'
(R):5'- ACGTAGTCCTCTCACTGATGGTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation