Incidental Mutation 'R0720:Adgrf2'
ID |
63532 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrf2
|
Ensembl Gene |
ENSMUSG00000057899 |
Gene Name |
adhesion G protein-coupled receptor F2 |
Synonyms |
PGR20, Gpr111 |
MMRRC Submission |
038902-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0720 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
43007021-43053070 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43024063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 136
(I136T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109244
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113614]
|
AlphaFold |
E9Q4J9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113614
AA Change: I136T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109244 Gene: ENSMUSG00000057899 AA Change: I136T
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 |
0.2078 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
98% (44/45) |
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 |
Bbs7 |
T |
C |
3: 36,646,572 (GRCm39) |
D416G |
probably damaging |
Het |
Commd4 |
G |
T |
9: 57,062,718 (GRCm39) |
D179E |
probably benign |
Het |
Cyp3a57 |
T |
C |
5: 145,327,213 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,314,007 (GRCm39) |
N1941S |
probably null |
Het |
Dynap |
T |
C |
18: 70,374,055 (GRCm39) |
D157G |
unknown |
Het |
Entrep2 |
A |
G |
7: 64,469,658 (GRCm39) |
|
probably benign |
Het |
Eri3 |
T |
C |
4: 117,410,242 (GRCm39) |
|
probably null |
Het |
Fbxo25 |
A |
G |
8: 13,985,222 (GRCm39) |
Y305C |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,530,241 (GRCm39) |
D36G |
probably benign |
Het |
Gas2l3 |
T |
C |
10: 89,249,805 (GRCm39) |
T438A |
probably benign |
Het |
Gcm1 |
A |
T |
9: 77,971,923 (GRCm39) |
Y288F |
possibly damaging |
Het |
Gm3164 |
C |
A |
14: 4,442,719 (GRCm38) |
S218R |
probably benign |
Het |
Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
Htra3 |
T |
C |
5: 35,811,453 (GRCm39) |
I392M |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,840,515 (GRCm39) |
M262V |
possibly damaging |
Het |
Lrrc47 |
T |
C |
4: 154,104,344 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
T |
4: 123,326,718 (GRCm39) |
N4926K |
probably damaging |
Het |
Mllt10 |
T |
C |
2: 18,201,406 (GRCm39) |
S631P |
probably benign |
Het |
Nlrp14 |
A |
G |
7: 106,781,220 (GRCm39) |
H139R |
probably benign |
Het |
Or1e34 |
T |
A |
11: 73,778,688 (GRCm39) |
N170I |
probably benign |
Het |
Or5w20 |
A |
T |
2: 87,727,013 (GRCm39) |
T157S |
probably benign |
Het |
Ptger2 |
T |
C |
14: 45,226,590 (GRCm39) |
C57R |
probably benign |
Het |
Rhot1 |
T |
C |
11: 80,114,769 (GRCm39) |
V59A |
probably damaging |
Het |
Rmdn2 |
G |
A |
17: 79,975,458 (GRCm39) |
|
probably null |
Het |
Rxfp2 |
G |
T |
5: 149,967,584 (GRCm39) |
K148N |
probably benign |
Het |
Sec23a |
G |
A |
12: 59,018,057 (GRCm39) |
T623M |
probably damaging |
Het |
Smcr8 |
T |
C |
11: 60,669,269 (GRCm39) |
L139P |
probably damaging |
Het |
Spag6l |
A |
T |
16: 16,584,960 (GRCm39) |
|
probably benign |
Het |
Taar1 |
T |
C |
10: 23,796,971 (GRCm39) |
I223T |
probably damaging |
Het |
Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
Tnfsf18 |
A |
G |
1: 161,331,156 (GRCm39) |
Y102C |
possibly damaging |
Het |
Tns1 |
A |
G |
1: 73,964,740 (GRCm39) |
L1297P |
probably benign |
Het |
Txndc8 |
C |
T |
4: 57,984,245 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,973,235 (GRCm39) |
N2622S |
probably damaging |
Het |
Vmn2r99 |
T |
A |
17: 19,599,305 (GRCm39) |
F330I |
probably benign |
Het |
Zdhhc2 |
T |
A |
8: 40,925,948 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- TTCCCCAATGAGATAACCTACTGTCCG -3'
(R):5'- GGCTGTCCTTTCAGAAGACCAGATTAG -3'
Sequencing Primer
(F):5'- GAGATAACCTACTGTCCGGTCTG -3'
(R):5'- GGTCAAGATATTCTACCCTAGATGC -3'
|
Posted On |
2013-07-30 |