Incidental Mutation 'R5953:Adgrf2'
| ID |
471025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf2
|
| Ensembl Gene |
ENSMUSG00000057899 |
| Gene Name |
adhesion G protein-coupled receptor F2 |
| Synonyms |
PGR20, Gpr111 |
| MMRRC Submission |
043245-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5953 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
43007021-43053070 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43021229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 532
(N532D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113614]
|
| AlphaFold |
E9Q4J9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113614
AA Change: N532D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109244
Gene: ENSMUSG00000057899
AA Change: N532D
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,960,241 (GRCm39) |
S675T |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,780,416 (GRCm39) |
L212P |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,043,225 (GRCm39) |
T751A |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,682,285 (GRCm39) |
E220G |
probably benign |
Het |
| Cd209d |
A |
T |
8: 3,927,979 (GRCm39) |
|
probably null |
Het |
| Cenpp |
T |
C |
13: 49,806,161 (GRCm39) |
D2G |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Clec4a3 |
G |
T |
6: 122,946,451 (GRCm39) |
V232L |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,968,156 (GRCm39) |
H792Y |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,206,220 (GRCm39) |
T470S |
probably benign |
Het |
| Cym |
T |
A |
3: 107,120,783 (GRCm39) |
D274V |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,890,049 (GRCm39) |
C627Y |
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,289,903 (GRCm39) |
I111N |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,027,871 (GRCm39) |
Y310F |
probably damaging |
Het |
| Fam217b |
C |
T |
2: 178,062,153 (GRCm39) |
S39F |
probably damaging |
Het |
| Fam234b |
G |
T |
6: 135,202,705 (GRCm39) |
R353L |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,147,572 (GRCm39) |
I404V |
probably benign |
Het |
| Il1rl1 |
T |
A |
1: 40,481,833 (GRCm39) |
D180E |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,369,182 (GRCm39) |
C256* |
probably null |
Het |
| Intu |
A |
C |
3: 40,633,980 (GRCm39) |
L404F |
probably damaging |
Het |
| Jmy |
G |
A |
13: 93,635,624 (GRCm39) |
T64M |
possibly damaging |
Het |
| Mpl |
C |
A |
4: 118,311,707 (GRCm39) |
S302I |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,311,708 (GRCm39) |
S302C |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,287,951 (GRCm39) |
D241Y |
probably damaging |
Het |
| Nlrp3 |
C |
T |
11: 59,437,617 (GRCm39) |
H99Y |
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,732 (GRCm39) |
I133F |
possibly damaging |
Het |
| Or6c216 |
C |
G |
10: 129,678,483 (GRCm39) |
V143L |
probably benign |
Het |
| Pglyrp1 |
A |
T |
7: 18,624,238 (GRCm39) |
I174F |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,099,815 (GRCm39) |
I1936N |
|
Het |
| Plekhm3 |
C |
T |
1: 64,977,054 (GRCm39) |
E139K |
probably damaging |
Het |
| Pomk |
C |
A |
8: 26,473,076 (GRCm39) |
L292F |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,504,148 (GRCm39) |
I1103T |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,266,401 (GRCm39) |
D38G |
probably damaging |
Het |
| Rapsn |
T |
C |
2: 90,872,308 (GRCm39) |
V214A |
probably benign |
Het |
| S100a9 |
T |
A |
3: 90,600,234 (GRCm39) |
K54M |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,570 (GRCm39) |
Y1964H |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,464,780 (GRCm39) |
N331S |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,958,677 (GRCm39) |
C252S |
probably damaging |
Het |
| Snx9 |
G |
T |
17: 5,958,678 (GRCm39) |
C252F |
probably damaging |
Het |
| Trem1 |
A |
T |
17: 48,544,220 (GRCm39) |
M82L |
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 |
|
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 |
|
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'- AGTGACCATTAATGACTGTGGC -3'
(R):5'- TTCTGGATGCTTGCCAAGG -3'
Sequencing Primer
(F):5'- GTGACCATTAATGACTGTGGCTATCC -3'
(R):5'- GATGCTTGCCAAGGCTCTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation