Incidental Mutation 'R5147:Adgrf2'
ID |
395178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrf2
|
Ensembl Gene |
ENSMUSG00000057899 |
Gene Name |
adhesion G protein-coupled receptor F2 |
Synonyms |
PGR20, Gpr111 |
MMRRC Submission |
042731-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5147 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
43007021-43053070 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43021574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 417
(Y417H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109244
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113614]
|
AlphaFold |
E9Q4J9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113614
AA Change: Y417H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109244 Gene: ENSMUSG00000057899 AA Change: Y417H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
GPS
|
325 |
376 |
2.05e-4 |
SMART |
Pfam:7tm_2
|
378 |
625 |
4.1e-29 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter allele exhibit normal viability and fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,149 (GRCm39) |
Y2121H |
probably benign |
Het |
Ap5z1 |
A |
C |
5: 142,452,265 (GRCm39) |
D66A |
probably benign |
Het |
Cachd1 |
T |
A |
4: 100,821,688 (GRCm39) |
Y422N |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,773,700 (GRCm39) |
G114D |
probably benign |
Het |
Cgref1 |
C |
T |
5: 31,091,049 (GRCm39) |
G255E |
probably benign |
Het |
Cyp2a22 |
A |
C |
7: 26,635,750 (GRCm39) |
L271R |
probably damaging |
Het |
Dcp2 |
G |
T |
18: 44,550,662 (GRCm39) |
E379* |
probably null |
Het |
Fhl3 |
T |
A |
4: 124,601,724 (GRCm39) |
D277E |
probably benign |
Het |
Gm19684 |
C |
T |
17: 36,439,411 (GRCm39) |
V190M |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,867,375 (GRCm39) |
D29G |
probably benign |
Het |
Il31 |
T |
C |
5: 123,620,121 (GRCm39) |
|
probably benign |
Het |
Ilk |
T |
C |
7: 105,391,774 (GRCm39) |
C422R |
possibly damaging |
Het |
Itga1 |
T |
G |
13: 115,121,678 (GRCm39) |
D777A |
possibly damaging |
Het |
Kank3 |
A |
G |
17: 34,041,176 (GRCm39) |
D556G |
probably damaging |
Het |
Lrit3 |
A |
G |
3: 129,597,574 (GRCm39) |
S36P |
possibly damaging |
Het |
Magi1 |
C |
T |
6: 93,724,248 (GRCm39) |
E256K |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Mymk |
C |
T |
2: 26,952,299 (GRCm39) |
M148I |
probably benign |
Het |
Nlrp12 |
T |
A |
7: 3,290,003 (GRCm39) |
I170F |
possibly damaging |
Het |
Odad3 |
T |
C |
9: 21,906,158 (GRCm39) |
E260G |
probably benign |
Het |
Or5al7 |
A |
T |
2: 85,992,378 (GRCm39) |
I305K |
possibly damaging |
Het |
Or5an11 |
T |
A |
19: 12,246,268 (GRCm39) |
S225T |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,799,003 (GRCm39) |
T1803I |
possibly damaging |
Het |
Ppp2r2b |
C |
T |
18: 42,778,942 (GRCm39) |
V398I |
probably benign |
Het |
Ppp2r5e |
T |
A |
12: 75,516,544 (GRCm39) |
R214S |
probably damaging |
Het |
Prss16 |
T |
C |
13: 22,190,264 (GRCm39) |
D298G |
possibly damaging |
Het |
Qprt |
G |
A |
7: 126,707,622 (GRCm39) |
R189W |
probably damaging |
Het |
Rara |
C |
T |
11: 98,841,550 (GRCm39) |
S36F |
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,003,264 (GRCm39) |
V465A |
probably damaging |
Het |
Slc22a1 |
C |
T |
17: 12,869,838 (GRCm39) |
G508R |
probably damaging |
Het |
Slco2a1 |
C |
A |
9: 102,927,468 (GRCm39) |
F120L |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,062,340 (GRCm39) |
L864* |
probably null |
Het |
Tssk4 |
A |
G |
14: 55,888,430 (GRCm39) |
I100V |
possibly damaging |
Het |
Vgll4 |
A |
G |
6: 114,867,576 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
G |
7: 6,011,818 (GRCm39) |
I139L |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,456,824 (GRCm39) |
P757S |
probably benign |
Het |
Ythdc2 |
G |
A |
18: 44,977,359 (GRCm39) |
G385E |
probably damaging |
Het |
|
Other mutations in Adgrf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00885:Adgrf2
|
APN |
17 |
43,025,206 (GRCm39) |
splice site |
probably benign |
|
IGL01089:Adgrf2
|
APN |
17 |
43,021,049 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01601:Adgrf2
|
APN |
17 |
43,020,940 (GRCm39) |
missense |
probably benign |
|
IGL01765:Adgrf2
|
APN |
17 |
43,030,426 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02946:Adgrf2
|
APN |
17 |
43,021,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R0498:Adgrf2
|
UTSW |
17 |
43,025,206 (GRCm39) |
splice site |
probably benign |
|
R0720:Adgrf2
|
UTSW |
17 |
43,024,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R0831:Adgrf2
|
UTSW |
17 |
43,021,334 (GRCm39) |
missense |
probably damaging |
0.96 |
R1664:Adgrf2
|
UTSW |
17 |
43,025,305 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2008:Adgrf2
|
UTSW |
17 |
43,021,013 (GRCm39) |
missense |
probably damaging |
0.96 |
R2306:Adgrf2
|
UTSW |
17 |
43,024,010 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2519:Adgrf2
|
UTSW |
17 |
43,021,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R3713:Adgrf2
|
UTSW |
17 |
43,023,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R3736:Adgrf2
|
UTSW |
17 |
43,021,903 (GRCm39) |
missense |
probably benign |
0.32 |
R4272:Adgrf2
|
UTSW |
17 |
43,021,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R4273:Adgrf2
|
UTSW |
17 |
43,021,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R4422:Adgrf2
|
UTSW |
17 |
43,024,046 (GRCm39) |
missense |
probably benign |
|
R4732:Adgrf2
|
UTSW |
17 |
43,021,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Adgrf2
|
UTSW |
17 |
43,021,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R4906:Adgrf2
|
UTSW |
17 |
43,022,084 (GRCm39) |
missense |
probably benign |
|
R5053:Adgrf2
|
UTSW |
17 |
43,021,334 (GRCm39) |
missense |
probably damaging |
0.96 |
R5078:Adgrf2
|
UTSW |
17 |
43,021,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R5089:Adgrf2
|
UTSW |
17 |
43,020,988 (GRCm39) |
missense |
probably benign |
0.00 |
R5953:Adgrf2
|
UTSW |
17 |
43,021,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R5968:Adgrf2
|
UTSW |
17 |
43,026,063 (GRCm39) |
critical splice donor site |
probably null |
|
R6791:Adgrf2
|
UTSW |
17 |
43,021,774 (GRCm39) |
missense |
probably benign |
0.02 |
R7138:Adgrf2
|
UTSW |
17 |
43,021,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R7612:Adgrf2
|
UTSW |
17 |
43,025,271 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7670:Adgrf2
|
UTSW |
17 |
43,022,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R8291:Adgrf2
|
UTSW |
17 |
43,021,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R8418:Adgrf2
|
UTSW |
17 |
43,021,477 (GRCm39) |
missense |
probably benign |
0.01 |
R8510:Adgrf2
|
UTSW |
17 |
43,030,431 (GRCm39) |
nonsense |
probably null |
|
R9736:Adgrf2
|
UTSW |
17 |
43,022,212 (GRCm39) |
missense |
probably benign |
0.42 |
X0061:Adgrf2
|
UTSW |
17 |
43,023,965 (GRCm39) |
missense |
probably benign |
0.37 |
X0067:Adgrf2
|
UTSW |
17 |
43,021,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTGGGCAGTGTATGAAAC -3'
(R):5'- CAAGCTGTTTGCCGTTGTC -3'
Sequencing Primer
(F):5'- AGGAGAGCCTTGGCAAGCATC -3'
(R):5'- CGTTGTCGGCCGAATAAGTTATATAC -3'
|
Posted On |
2016-06-21 |