Incidental Mutation 'R8751:Adgrf5'
ID |
663882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrf5
|
Ensembl Gene |
ENSMUSG00000056492 |
Gene Name |
adhesion G protein-coupled receptor F5 |
Synonyms |
8430401C09Rik, Gpr116 |
MMRRC Submission |
068594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8751 (G1)
|
Quality Score |
186.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
43671342-43770448 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 43748574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 468
(V468I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109229
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113599]
[ENSMUST00000225004]
[ENSMUST00000225962]
[ENSMUST00000226087]
|
AlphaFold |
G5E8Q8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113599
AA Change: V468I
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109229 Gene: ENSMUSG00000056492 AA Change: V468I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Blast:EGF
|
118 |
161 |
8e-14 |
BLAST |
Pfam:SEA
|
165 |
263 |
9.2e-14 |
PFAM |
IG
|
276 |
366 |
1.54e-4 |
SMART |
Blast:IG_like
|
374 |
464 |
2e-31 |
BLAST |
IG
|
475 |
561 |
1.04e-1 |
SMART |
low complexity region
|
815 |
823 |
N/A |
INTRINSIC |
GPS
|
949 |
1004 |
6.49e-16 |
SMART |
Pfam:7tm_2
|
1011 |
1264 |
1.2e-35 |
PFAM |
low complexity region
|
1328 |
1347 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225004
AA Change: V82I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225962
AA Change: V223I
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226087
AA Change: V468I
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, decreased body weight and respiratory distress associated with pulmonary alveolar proteinosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
T |
A |
15: 11,215,813 (GRCm39) |
I278N |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,129,492 (GRCm39) |
W702R |
probably damaging |
Het |
Ahnak |
A |
C |
19: 8,987,509 (GRCm39) |
K2931T |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,761,849 (GRCm39) |
|
probably benign |
Het |
Birc6 |
G |
A |
17: 74,955,135 (GRCm39) |
V3480I |
probably damaging |
Het |
Bpifa5 |
A |
T |
2: 154,007,432 (GRCm39) |
I125L |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
Ccm2l |
A |
T |
2: 152,909,695 (GRCm39) |
I16F |
probably benign |
Het |
Cep72 |
G |
A |
13: 74,198,303 (GRCm39) |
S359F |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,838,100 (GRCm39) |
N844S |
unknown |
Het |
Col7a1 |
C |
T |
9: 108,796,730 (GRCm39) |
P1623S |
possibly damaging |
Het |
Crybg1 |
T |
C |
10: 43,880,838 (GRCm39) |
K117E |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,845,402 (GRCm39) |
C54R |
|
Het |
Dlg1 |
A |
G |
16: 31,600,648 (GRCm39) |
T211A |
probably benign |
Het |
Emc1 |
C |
A |
4: 139,097,279 (GRCm39) |
H724N |
possibly damaging |
Het |
Epg5 |
A |
C |
18: 78,008,223 (GRCm39) |
N784H |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,008,225 (GRCm39) |
N784K |
probably benign |
Het |
Epg5 |
A |
T |
18: 78,008,224 (GRCm39) |
N784I |
possibly damaging |
Het |
Erc2 |
A |
G |
14: 27,802,145 (GRCm39) |
E771G |
possibly damaging |
Het |
Exo1 |
T |
C |
1: 175,719,678 (GRCm39) |
V241A |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,946,002 (GRCm39) |
T1632A |
probably benign |
Het |
Fbxo21 |
T |
A |
5: 118,140,127 (GRCm39) |
M529K |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,646,134 (GRCm39) |
E276G |
probably benign |
Het |
Frem1 |
G |
A |
4: 82,889,015 (GRCm39) |
T1069I |
probably damaging |
Het |
Gapvd1 |
A |
C |
2: 34,568,078 (GRCm39) |
F1429V |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,229,117 (GRCm39) |
E510G |
possibly damaging |
Het |
Gm17087 |
A |
T |
17: 8,785,510 (GRCm39) |
H64Q |
probably damaging |
Het |
Gm19965 |
A |
T |
1: 116,749,867 (GRCm39) |
Y516F |
unknown |
Het |
Hdac5 |
A |
T |
11: 102,109,280 (GRCm39) |
I38N |
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,501,838 (GRCm39) |
C4190* |
probably null |
Het |
Helb |
A |
T |
10: 119,925,412 (GRCm39) |
D988E |
probably benign |
Het |
Herc6 |
C |
T |
6: 57,639,359 (GRCm39) |
S909L |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,751,010 (GRCm39) |
V1692E |
probably damaging |
Het |
Ino80 |
A |
G |
2: 119,237,389 (GRCm39) |
Y1107H |
probably benign |
Het |
Kif9 |
A |
T |
9: 110,330,724 (GRCm39) |
Y350F |
probably benign |
Het |
Lct |
T |
A |
1: 128,221,534 (GRCm39) |
T1570S |
probably benign |
Het |
Lias |
T |
A |
5: 65,557,193 (GRCm39) |
N203K |
probably benign |
Het |
Lrrtm4 |
A |
G |
6: 79,999,092 (GRCm39) |
N168S |
probably damaging |
Het |
Ltf |
A |
T |
9: 110,860,192 (GRCm39) |
K538* |
probably null |
Het |
Lysmd4 |
A |
G |
7: 66,875,787 (GRCm39) |
D150G |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,739,462 (GRCm39) |
D572G |
probably benign |
Het |
Meiob |
T |
C |
17: 25,047,008 (GRCm39) |
|
probably null |
Het |
Ncor2 |
T |
C |
5: 125,115,964 (GRCm39) |
Y130C |
|
Het |
Ntmt2 |
T |
A |
1: 163,544,738 (GRCm39) |
T82S |
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,409,072 (GRCm39) |
S118P |
probably benign |
Het |
Or10g3 |
A |
G |
14: 52,610,420 (GRCm39) |
F30S |
probably benign |
Het |
Or2t45 |
A |
G |
11: 58,669,213 (GRCm39) |
T87A |
probably benign |
Het |
Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
Parp14 |
A |
T |
16: 35,677,181 (GRCm39) |
M929K |
probably benign |
Het |
Pcdh8 |
T |
C |
14: 80,006,229 (GRCm39) |
E778G |
probably benign |
Het |
Pgls |
T |
C |
8: 72,047,838 (GRCm39) |
V211A |
probably benign |
Het |
Pkd2 |
T |
A |
5: 104,637,151 (GRCm39) |
M588K |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,231,269 (GRCm39) |
N860S |
probably benign |
Het |
Psg19 |
C |
T |
7: 18,530,888 (GRCm39) |
V89M |
probably benign |
Het |
Reln |
T |
C |
5: 22,147,672 (GRCm39) |
H2426R |
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,885,050 (GRCm39) |
N428K |
possibly damaging |
Het |
Slc12a4 |
C |
T |
8: 106,676,285 (GRCm39) |
|
probably null |
Het |
Slc25a3 |
T |
C |
10: 90,952,960 (GRCm39) |
I314V |
probably benign |
Het |
Slc29a1 |
C |
A |
17: 45,900,688 (GRCm39) |
V125F |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,085,981 (GRCm39) |
C583S |
probably damaging |
Het |
Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
Smg7 |
T |
C |
1: 152,719,129 (GRCm39) |
D874G |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,729,723 (GRCm39) |
K132* |
probably null |
Het |
Tap1 |
A |
G |
17: 34,412,133 (GRCm39) |
K446R |
probably benign |
Het |
Tcam1 |
A |
T |
11: 106,176,443 (GRCm39) |
T390S |
possibly damaging |
Het |
Tnik |
A |
G |
3: 28,666,057 (GRCm39) |
N687D |
probably damaging |
Het |
Trim42 |
T |
C |
9: 97,251,852 (GRCm39) |
R16G |
possibly damaging |
Het |
Vcp |
A |
C |
4: 42,984,658 (GRCm39) |
L411W |
probably damaging |
Het |
Vma21-ps |
C |
A |
4: 52,496,973 (GRCm39) |
G91V |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r67 |
C |
T |
7: 84,801,450 (GRCm39) |
C162Y |
probably benign |
Het |
Vmn2r-ps117 |
A |
G |
17: 19,044,021 (GRCm39) |
T366A |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,066,190 (GRCm39) |
K54E |
probably damaging |
Het |
|
Other mutations in Adgrf5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Adgrf5
|
APN |
17 |
43,760,806 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL00590:Adgrf5
|
APN |
17 |
43,764,038 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01128:Adgrf5
|
APN |
17 |
43,733,400 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01131:Adgrf5
|
APN |
17 |
43,733,400 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01132:Adgrf5
|
APN |
17 |
43,733,400 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01392:Adgrf5
|
APN |
17 |
43,760,903 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01475:Adgrf5
|
APN |
17 |
43,761,245 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01614:Adgrf5
|
APN |
17 |
43,735,362 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01654:Adgrf5
|
APN |
17 |
43,762,061 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02053:Adgrf5
|
APN |
17 |
43,761,058 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02175:Adgrf5
|
APN |
17 |
43,761,901 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02416:Adgrf5
|
APN |
17 |
43,755,871 (GRCm39) |
splice site |
probably null |
|
IGL02525:Adgrf5
|
APN |
17 |
43,760,854 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03035:Adgrf5
|
APN |
17 |
43,741,518 (GRCm39) |
missense |
possibly damaging |
0.80 |
duct_tape
|
UTSW |
17 |
43,756,006 (GRCm39) |
missense |
probably benign |
0.04 |
Flypaper
|
UTSW |
17 |
43,733,552 (GRCm39) |
splice site |
probably benign |
|
goop
|
UTSW |
17 |
43,752,860 (GRCm39) |
missense |
probably damaging |
0.99 |
Heaped
|
UTSW |
17 |
43,757,927 (GRCm39) |
missense |
possibly damaging |
0.93 |
la_brea
|
UTSW |
17 |
43,763,214 (GRCm39) |
critical splice donor site |
probably null |
|
Motel
|
UTSW |
17 |
43,761,271 (GRCm39) |
missense |
probably damaging |
1.00 |
noel
|
UTSW |
17 |
43,741,503 (GRCm39) |
missense |
probably damaging |
1.00 |
Schmutzfinger
|
UTSW |
17 |
43,735,709 (GRCm39) |
nonsense |
probably null |
|
sticky
|
UTSW |
17 |
43,748,462 (GRCm39) |
missense |
probably damaging |
0.98 |
sweetie
|
UTSW |
17 |
43,761,874 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4812001:Adgrf5
|
UTSW |
17 |
43,761,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R0699:Adgrf5
|
UTSW |
17 |
43,733,552 (GRCm39) |
splice site |
probably null |
|
R0972:Adgrf5
|
UTSW |
17 |
43,761,874 (GRCm39) |
missense |
probably damaging |
0.96 |
R1521:Adgrf5
|
UTSW |
17 |
43,741,443 (GRCm39) |
missense |
probably benign |
0.03 |
R1523:Adgrf5
|
UTSW |
17 |
43,761,044 (GRCm39) |
missense |
probably benign |
0.00 |
R1758:Adgrf5
|
UTSW |
17 |
43,735,484 (GRCm39) |
critical splice donor site |
probably null |
|
R1767:Adgrf5
|
UTSW |
17 |
43,761,455 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1799:Adgrf5
|
UTSW |
17 |
43,750,958 (GRCm39) |
missense |
probably damaging |
0.98 |
R1800:Adgrf5
|
UTSW |
17 |
43,761,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Adgrf5
|
UTSW |
17 |
43,737,896 (GRCm39) |
splice site |
probably null |
|
R1888:Adgrf5
|
UTSW |
17 |
43,737,896 (GRCm39) |
splice site |
probably null |
|
R2057:Adgrf5
|
UTSW |
17 |
43,739,477 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2058:Adgrf5
|
UTSW |
17 |
43,739,477 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2059:Adgrf5
|
UTSW |
17 |
43,739,477 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2410:Adgrf5
|
UTSW |
17 |
43,766,157 (GRCm39) |
missense |
probably benign |
0.11 |
R2568:Adgrf5
|
UTSW |
17 |
43,748,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R2847:Adgrf5
|
UTSW |
17 |
43,733,531 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2848:Adgrf5
|
UTSW |
17 |
43,733,531 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3800:Adgrf5
|
UTSW |
17 |
43,757,951 (GRCm39) |
splice site |
probably benign |
|
R3856:Adgrf5
|
UTSW |
17 |
43,757,927 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4021:Adgrf5
|
UTSW |
17 |
43,741,605 (GRCm39) |
splice site |
probably benign |
|
R4075:Adgrf5
|
UTSW |
17 |
43,761,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R4366:Adgrf5
|
UTSW |
17 |
43,752,860 (GRCm39) |
missense |
probably damaging |
0.99 |
R4409:Adgrf5
|
UTSW |
17 |
43,752,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R4570:Adgrf5
|
UTSW |
17 |
43,756,006 (GRCm39) |
missense |
probably benign |
0.04 |
R4616:Adgrf5
|
UTSW |
17 |
43,763,331 (GRCm39) |
missense |
probably benign |
0.38 |
R4623:Adgrf5
|
UTSW |
17 |
43,761,874 (GRCm39) |
missense |
probably benign |
0.16 |
R4645:Adgrf5
|
UTSW |
17 |
43,748,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R5211:Adgrf5
|
UTSW |
17 |
43,733,511 (GRCm39) |
missense |
probably benign |
0.32 |
R5268:Adgrf5
|
UTSW |
17 |
43,761,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R5280:Adgrf5
|
UTSW |
17 |
43,737,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R5326:Adgrf5
|
UTSW |
17 |
43,750,965 (GRCm39) |
missense |
probably damaging |
0.98 |
R5762:Adgrf5
|
UTSW |
17 |
43,741,586 (GRCm39) |
missense |
probably null |
0.16 |
R5856:Adgrf5
|
UTSW |
17 |
43,757,011 (GRCm39) |
missense |
probably benign |
0.09 |
R6007:Adgrf5
|
UTSW |
17 |
43,748,462 (GRCm39) |
missense |
probably damaging |
0.98 |
R6153:Adgrf5
|
UTSW |
17 |
43,761,974 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6451:Adgrf5
|
UTSW |
17 |
43,735,709 (GRCm39) |
nonsense |
probably null |
|
R6535:Adgrf5
|
UTSW |
17 |
43,750,920 (GRCm39) |
missense |
probably benign |
0.05 |
R6536:Adgrf5
|
UTSW |
17 |
43,733,552 (GRCm39) |
splice site |
probably benign |
|
R6602:Adgrf5
|
UTSW |
17 |
43,761,195 (GRCm39) |
missense |
probably benign |
0.32 |
R6882:Adgrf5
|
UTSW |
17 |
43,761,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R6992:Adgrf5
|
UTSW |
17 |
43,763,214 (GRCm39) |
critical splice donor site |
probably null |
|
R7137:Adgrf5
|
UTSW |
17 |
43,761,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R7170:Adgrf5
|
UTSW |
17 |
43,757,029 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7313:Adgrf5
|
UTSW |
17 |
43,763,368 (GRCm39) |
critical splice donor site |
probably null |
|
R7313:Adgrf5
|
UTSW |
17 |
43,755,974 (GRCm39) |
missense |
probably benign |
0.01 |
R7331:Adgrf5
|
UTSW |
17 |
43,748,484 (GRCm39) |
missense |
probably damaging |
0.99 |
R7346:Adgrf5
|
UTSW |
17 |
43,762,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R7350:Adgrf5
|
UTSW |
17 |
43,739,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7667:Adgrf5
|
UTSW |
17 |
43,756,930 (GRCm39) |
missense |
probably benign |
0.01 |
R7717:Adgrf5
|
UTSW |
17 |
43,761,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R7731:Adgrf5
|
UTSW |
17 |
43,761,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R7877:Adgrf5
|
UTSW |
17 |
43,752,729 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7950:Adgrf5
|
UTSW |
17 |
43,762,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R7988:Adgrf5
|
UTSW |
17 |
43,750,704 (GRCm39) |
intron |
probably benign |
|
R8188:Adgrf5
|
UTSW |
17 |
43,741,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R8219:Adgrf5
|
UTSW |
17 |
43,760,750 (GRCm39) |
missense |
probably benign |
0.13 |
R8284:Adgrf5
|
UTSW |
17 |
43,766,161 (GRCm39) |
missense |
unknown |
|
R8460:Adgrf5
|
UTSW |
17 |
43,750,699 (GRCm39) |
intron |
probably benign |
|
R8504:Adgrf5
|
UTSW |
17 |
43,757,840 (GRCm39) |
missense |
probably benign |
0.01 |
R8852:Adgrf5
|
UTSW |
17 |
43,763,989 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9196:Adgrf5
|
UTSW |
17 |
43,755,995 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9418:Adgrf5
|
UTSW |
17 |
43,737,864 (GRCm39) |
missense |
probably benign |
0.00 |
R9671:Adgrf5
|
UTSW |
17 |
43,760,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R9734:Adgrf5
|
UTSW |
17 |
43,763,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R9756:Adgrf5
|
UTSW |
17 |
43,761,137 (GRCm39) |
missense |
probably benign |
0.01 |
R9765:Adgrf5
|
UTSW |
17 |
43,748,491 (GRCm39) |
missense |
probably damaging |
1.00 |
X0017:Adgrf5
|
UTSW |
17 |
43,737,936 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Adgrf5
|
UTSW |
17 |
43,755,944 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Adgrf5
|
UTSW |
17 |
43,755,926 (GRCm39) |
missense |
probably benign |
0.17 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGTTTATATCATTGCAGGGAAC -3'
(R):5'- TGAACAACATGGTTAGTTTCTTCCC -3'
Sequencing Primer
(F):5'- GGAACCCAGAATCAGACCTAGAGTC -3'
(R):5'- TTTCCGACCCAACCCAATTTAAAATG -3'
|
Posted On |
2021-03-08 |