Incidental Mutation 'R6745:Adgrf3'
| ID |
530524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf3
|
| Ensembl Gene |
ENSMUSG00000067642 |
| Gene Name |
adhesion G protein-coupled receptor F3 |
| Synonyms |
Gpr113, LOC381628, PGR23 |
| MMRRC Submission |
044862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30193431-30205722 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30203603 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 59
(V59A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088117]
|
| AlphaFold |
Q58Y75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088117
AA Change: V59A
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: V59A
| 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 |
noncoding transcript
Transcript: ENSMUST00000135322
|
| Meta Mutation Damage Score |
0.1429 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
G |
T |
10: 10,390,197 (GRCm38) |
T1040K |
probably damaging |
Het |
| Ankk1 |
G |
T |
9: 49,416,180 (GRCm38) |
H566Q |
probably benign |
Het |
| Avil |
A |
C |
10: 127,014,119 (GRCm38) |
D613A |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,670,836 (GRCm38) |
N613S |
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,387,167 (GRCm38) |
T326A |
probably benign |
Het |
| Clasp2 |
A |
T |
9: 113,875,270 (GRCm38) |
R558* |
probably null |
Het |
| Cmbl |
A |
G |
15: 31,589,787 (GRCm38) |
D221G |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,338,622 (GRCm38) |
|
probably benign |
Het |
| Creb5 |
A |
T |
6: 53,604,532 (GRCm38) |
M172L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,552,244 (GRCm38) |
V2291A |
possibly damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,814,179 (GRCm38) |
V181G |
probably damaging |
Het |
| D430042O09Rik |
T |
C |
7: 125,770,650 (GRCm38) |
S137P |
probably benign |
Het |
| Dclk1 |
T |
A |
3: 55,477,808 (GRCm38) |
S40T |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,808,812 (GRCm38) |
M3053I |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,707,228 (GRCm38) |
I268K |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,705,842 (GRCm38) |
D396H |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,705,843 (GRCm38) |
K395N |
probably damaging |
Het |
| Gpbp1 |
G |
A |
13: 111,453,385 (GRCm38) |
R59C |
probably benign |
Het |
| Ifi47 |
T |
G |
11: 49,095,502 (GRCm38) |
I32S |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,360,270 (GRCm38) |
V166A |
unknown |
Het |
| Kdm5d |
T |
A |
Y: 927,112 (GRCm38) |
C617S |
probably benign |
Homo |
| Kif20b |
T |
G |
19: 34,928,876 (GRCm38) |
S55A |
possibly damaging |
Het |
| Klhl1 |
C |
T |
14: 96,280,002 (GRCm38) |
|
probably null |
Het |
| Kndc1 |
C |
T |
7: 139,920,976 (GRCm38) |
T727I |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 66,273,001 (GRCm38) |
I298N |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,308,179 (GRCm38) |
R1448L |
probably damaging |
Het |
| Mup4 |
C |
T |
4: 59,960,091 (GRCm38) |
V58M |
possibly damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,190,664 (GRCm38) |
F467S |
probably damaging |
Het |
| Olfr112 |
T |
A |
17: 37,563,579 (GRCm38) |
H244L |
probably damaging |
Het |
| Pla2g4a |
G |
T |
1: 149,886,230 (GRCm38) |
Q151K |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 21,983,698 (GRCm38) |
Q713L |
probably benign |
Het |
| Pomgnt1 |
T |
A |
4: 116,153,883 (GRCm38) |
S210T |
probably damaging |
Het |
| Prb1 |
T |
C |
6: 132,209,420 (GRCm38) |
|
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,747,360 (GRCm38) |
D101G |
probably damaging |
Het |
| Ranbp3 |
A |
G |
17: 56,709,308 (GRCm38) |
D359G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,822,317 (GRCm38) |
I531F |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,730,355 (GRCm38) |
N265S |
possibly damaging |
Het |
| Slc51b |
T |
C |
9: 65,412,930 (GRCm38) |
E85G |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 139,122,893 (GRCm38) |
R195W |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,042,610 (GRCm38) |
T819A |
possibly damaging |
Het |
| Ugt1a9 |
A |
T |
1: 88,071,176 (GRCm38) |
E116V |
probably benign |
Het |
| Zswim5 |
C |
G |
4: 116,975,204 (GRCm38) |
P543A |
probably 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 |
|
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 |
|
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 |
|
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'- ATCTTGGGCAAGCTGTCTAG -3'
(R):5'- CATAGACCAGAGTGCTTCCC -3'
Sequencing Primer
(F):5'- TCTAGCTGGAGAATTGGGGAGC -3'
(R):5'- ATGGGAGTTGTTACCATCCTGCAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation