Incidental Mutation 'R3736:Adgrf2'
ID |
270144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrf2
|
Ensembl Gene |
ENSMUSG00000057899 |
Gene Name |
adhesion G protein-coupled receptor F2 |
Synonyms |
PGR20, Gpr111 |
MMRRC Submission |
040723-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3736 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
43007021-43053070 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43021903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 307
(E307G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109244
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113614]
|
AlphaFold |
E9Q4J9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113614
AA Change: E307G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109244 Gene: ENSMUSG00000057899 AA Change: E307G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (53/53) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
A |
7: 29,273,996 (GRCm39) |
|
noncoding transcript |
Het |
Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,768,497 (GRCm39) |
K686R |
probably benign |
Het |
Ang2 |
G |
A |
14: 51,433,113 (GRCm39) |
R90* |
probably null |
Het |
Ankrd11 |
A |
T |
8: 123,618,524 (GRCm39) |
V1776D |
probably damaging |
Het |
Atp12a |
G |
A |
14: 56,611,884 (GRCm39) |
V353I |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,661,819 (GRCm39) |
Y127H |
possibly damaging |
Het |
C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
Ccdc158 |
A |
C |
5: 92,780,283 (GRCm39) |
L930R |
possibly damaging |
Het |
Ccdc162 |
T |
C |
10: 41,465,564 (GRCm39) |
|
probably null |
Het |
Cep170b |
A |
T |
12: 112,707,438 (GRCm39) |
I395F |
probably damaging |
Het |
Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
Clcn3 |
T |
A |
8: 61,436,686 (GRCm39) |
|
probably benign |
Het |
Ctps1 |
T |
C |
4: 120,400,943 (GRCm39) |
T459A |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,332,836 (GRCm39) |
R503S |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
Evi5 |
A |
T |
5: 107,966,849 (GRCm39) |
V224D |
probably damaging |
Het |
F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
Irag1 |
A |
G |
7: 110,523,170 (GRCm39) |
V297A |
probably benign |
Het |
Irag2 |
G |
A |
6: 145,106,596 (GRCm39) |
|
probably benign |
Het |
Kcnk10 |
A |
G |
12: 98,456,171 (GRCm39) |
V203A |
probably benign |
Het |
Lef1 |
C |
T |
3: 130,984,715 (GRCm39) |
P160S |
possibly damaging |
Het |
Lyn |
G |
T |
4: 3,745,330 (GRCm39) |
W78C |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
Mogs |
C |
A |
6: 83,093,757 (GRCm39) |
T242K |
possibly damaging |
Het |
Morc3 |
T |
A |
16: 93,671,700 (GRCm39) |
V910E |
probably damaging |
Het |
Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,027,320 (GRCm39) |
Y234C |
probably damaging |
Het |
Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
Or5p76 |
A |
G |
7: 108,122,626 (GRCm39) |
V177A |
possibly damaging |
Het |
Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,631,427 (GRCm39) |
F1161I |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,533,324 (GRCm39) |
S151G |
probably damaging |
Het |
Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
Shtn1 |
A |
T |
19: 59,010,700 (GRCm39) |
S256T |
probably benign |
Het |
Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
Suclg2 |
T |
A |
6: 95,474,677 (GRCm39) |
I363F |
probably damaging |
Het |
Tas2r134 |
C |
A |
2: 51,517,786 (GRCm39) |
N88K |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 56,005,189 (GRCm39) |
Y815H |
probably damaging |
Het |
Tnrc6b |
G |
C |
15: 80,773,364 (GRCm39) |
|
probably benign |
Het |
Vti1a |
T |
A |
19: 55,369,364 (GRCm39) |
|
probably null |
Het |
Zfp273 |
T |
A |
13: 67,973,626 (GRCm39) |
C251* |
probably null |
Het |
Zfp683 |
C |
A |
4: 133,784,742 (GRCm39) |
Q330K |
probably benign |
Het |
Zfpm1 |
G |
A |
8: 123,050,475 (GRCm39) |
C117Y |
possibly damaging |
Het |
Zscan4d |
T |
C |
7: 10,896,803 (GRCm39) |
N189S |
probably benign |
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 |
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 |
R5147:Adgrf2
|
UTSW |
17 |
43,021,574 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CAGGGCTTTCCAACGTGTTG -3'
(R):5'- CGTTCTCAATGCGAATTAATGAGAC -3'
Sequencing Primer
(F):5'- CGTGTTGGGAGACATTAGAATG -3'
(R):5'- CTCAATGCGAATTAATGAGACAAGTG -3'
|
Posted On |
2015-03-18 |