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 |
Gpr116, 8430401C09Rik |
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 |
43360451-43459557 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 43437683 bp (GRCm38)
|
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: 11,215,727 (GRCm38) |
I278N |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,311,628 (GRCm38) |
W702R |
probably damaging |
Het |
Ahnak |
A |
C |
19: 9,010,145 (GRCm38) |
K2931T |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,926,019 (GRCm38) |
|
probably benign |
Het |
Birc6 |
G |
A |
17: 74,648,140 (GRCm38) |
V3480I |
probably damaging |
Het |
Bpifa5 |
A |
T |
2: 154,165,512 (GRCm38) |
I125L |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,705,319 (GRCm38) |
D773G |
possibly damaging |
Het |
Ccm2l |
A |
T |
2: 153,067,775 (GRCm38) |
I16F |
probably benign |
Het |
Cep72 |
G |
A |
13: 74,050,184 (GRCm38) |
S359F |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,947,274 (GRCm38) |
N844S |
unknown |
Het |
Col7a1 |
C |
T |
9: 108,967,662 (GRCm38) |
P1623S |
possibly damaging |
Het |
Crybg1 |
T |
C |
10: 44,004,842 (GRCm38) |
K117E |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,982,006 (GRCm38) |
C54R |
|
Het |
Dlg1 |
A |
G |
16: 31,781,830 (GRCm38) |
T211A |
probably benign |
Het |
Emc1 |
C |
A |
4: 139,369,968 (GRCm38) |
H724N |
possibly damaging |
Het |
Epg5 |
T |
A |
18: 77,965,010 (GRCm38) |
N784K |
probably benign |
Het |
Epg5 |
A |
T |
18: 77,965,009 (GRCm38) |
N784I |
possibly damaging |
Het |
Epg5 |
A |
C |
18: 77,965,008 (GRCm38) |
N784H |
probably benign |
Het |
Erc2 |
A |
G |
14: 28,080,188 (GRCm38) |
E771G |
possibly damaging |
Het |
Exo1 |
T |
C |
1: 175,892,112 (GRCm38) |
V241A |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,891,853 (GRCm38) |
T1632A |
probably benign |
Het |
Fbxo21 |
T |
A |
5: 118,002,062 (GRCm38) |
M529K |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,918,823 (GRCm38) |
E276G |
probably benign |
Het |
Frem1 |
G |
A |
4: 82,970,778 (GRCm38) |
T1069I |
probably damaging |
Het |
Gapvd1 |
A |
C |
2: 34,678,066 (GRCm38) |
F1429V |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,081,251 (GRCm38) |
E510G |
possibly damaging |
Het |
Gm17087 |
A |
T |
17: 8,566,678 (GRCm38) |
H64Q |
probably damaging |
Het |
Gm19965 |
A |
T |
1: 116,822,137 (GRCm38) |
Y516F |
unknown |
Het |
Hdac5 |
A |
T |
11: 102,218,454 (GRCm38) |
I38N |
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,363,775 (GRCm38) |
C4190* |
probably null |
Het |
Helb |
A |
T |
10: 120,089,507 (GRCm38) |
D988E |
probably benign |
Het |
Herc6 |
C |
T |
6: 57,662,374 (GRCm38) |
S909L |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,602,891 (GRCm38) |
V1692E |
probably damaging |
Het |
Ino80 |
A |
G |
2: 119,406,908 (GRCm38) |
Y1107H |
probably benign |
Het |
Kif9 |
A |
T |
9: 110,501,656 (GRCm38) |
Y350F |
probably benign |
Het |
Lct |
T |
A |
1: 128,293,797 (GRCm38) |
T1570S |
probably benign |
Het |
Lias |
T |
A |
5: 65,399,850 (GRCm38) |
N203K |
probably benign |
Het |
Lrrtm4 |
A |
G |
6: 80,022,109 (GRCm38) |
N168S |
probably damaging |
Het |
Ltf |
A |
T |
9: 111,031,124 (GRCm38) |
K538* |
probably null |
Het |
Lysmd4 |
A |
G |
7: 67,226,039 (GRCm38) |
D150G |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,534,464 (GRCm38) |
D572G |
probably benign |
Het |
Meiob |
T |
C |
17: 24,828,034 (GRCm38) |
|
probably null |
Het |
Ncor2 |
T |
C |
5: 125,038,900 (GRCm38) |
Y130C |
|
Het |
Ntmt2 |
T |
A |
1: 163,717,169 (GRCm38) |
T82S |
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,255,596 (GRCm38) |
S118P |
probably benign |
Het |
Or10g3 |
A |
G |
14: 52,372,963 (GRCm38) |
F30S |
probably benign |
Het |
Or2t45 |
A |
G |
11: 58,778,387 (GRCm38) |
T87A |
probably benign |
Het |
Or8b55 |
T |
A |
9: 38,816,039 (GRCm38) |
C179S |
probably damaging |
Het |
Parp14 |
A |
T |
16: 35,856,811 (GRCm38) |
M929K |
probably benign |
Het |
Pcdh8 |
T |
C |
14: 79,768,789 (GRCm38) |
E778G |
probably benign |
Het |
Pgls |
T |
C |
8: 71,595,194 (GRCm38) |
V211A |
probably benign |
Het |
Pkd2 |
T |
A |
5: 104,489,285 (GRCm38) |
M588K |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,192,110 (GRCm38) |
N860S |
probably benign |
Het |
Psg19 |
C |
T |
7: 18,796,963 (GRCm38) |
V89M |
probably benign |
Het |
Reln |
T |
C |
5: 21,942,674 (GRCm38) |
H2426R |
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,701,067 (GRCm38) |
N428K |
possibly damaging |
Het |
Slc12a4 |
C |
T |
8: 105,949,653 (GRCm38) |
|
probably null |
Het |
Slc25a3 |
T |
C |
10: 91,117,098 (GRCm38) |
I314V |
probably benign |
Het |
Slc29a1 |
C |
A |
17: 45,589,762 (GRCm38) |
V125F |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 105,359,349 (GRCm38) |
C583S |
probably damaging |
Het |
Slco2b1 |
G |
A |
7: 99,660,052 (GRCm38) |
Q691* |
probably null |
Het |
Smg7 |
T |
C |
1: 152,843,378 (GRCm38) |
D874G |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,729,637 (GRCm38) |
K132* |
probably null |
Het |
Tap1 |
A |
G |
17: 34,193,159 (GRCm38) |
K446R |
probably benign |
Het |
Tcam1 |
A |
T |
11: 106,285,617 (GRCm38) |
T390S |
possibly damaging |
Het |
Tnik |
A |
G |
3: 28,611,908 (GRCm38) |
N687D |
probably damaging |
Het |
Trim42 |
T |
C |
9: 97,369,799 (GRCm38) |
R16G |
possibly damaging |
Het |
Vcp |
A |
C |
4: 42,984,658 (GRCm38) |
L411W |
probably damaging |
Het |
Vma21-ps |
C |
A |
4: 52,496,973 (GRCm38) |
G91V |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,926,467 (GRCm38) |
T109A |
probably benign |
Het |
Vmn2r67 |
C |
T |
7: 85,152,242 (GRCm38) |
C162Y |
probably benign |
Het |
Vmn2r-ps117 |
A |
G |
17: 18,823,759 (GRCm38) |
T366A |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,235,846 (GRCm38) |
K54E |
probably damaging |
Het |
|
Other mutations in Adgrf5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Adgrf5
|
APN |
17 |
43,449,915 (GRCm38) |
missense |
possibly damaging |
0.79 |
IGL00590:Adgrf5
|
APN |
17 |
43,453,147 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01128:Adgrf5
|
APN |
17 |
43,422,509 (GRCm38) |
missense |
possibly damaging |
0.95 |
IGL01131:Adgrf5
|
APN |
17 |
43,422,509 (GRCm38) |
missense |
possibly damaging |
0.95 |
IGL01132:Adgrf5
|
APN |
17 |
43,422,509 (GRCm38) |
missense |
possibly damaging |
0.95 |
IGL01392:Adgrf5
|
APN |
17 |
43,450,012 (GRCm38) |
missense |
probably benign |
0.00 |
IGL01475:Adgrf5
|
APN |
17 |
43,450,354 (GRCm38) |
missense |
probably benign |
0.00 |
IGL01614:Adgrf5
|
APN |
17 |
43,424,471 (GRCm38) |
missense |
possibly damaging |
0.53 |
IGL01654:Adgrf5
|
APN |
17 |
43,451,170 (GRCm38) |
missense |
possibly damaging |
0.89 |
IGL02053:Adgrf5
|
APN |
17 |
43,450,167 (GRCm38) |
missense |
possibly damaging |
0.47 |
IGL02175:Adgrf5
|
APN |
17 |
43,451,010 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02416:Adgrf5
|
APN |
17 |
43,444,980 (GRCm38) |
splice site |
probably null |
|
IGL02525:Adgrf5
|
APN |
17 |
43,449,963 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03035:Adgrf5
|
APN |
17 |
43,430,627 (GRCm38) |
missense |
possibly damaging |
0.80 |
duct_tape
|
UTSW |
17 |
43,445,115 (GRCm38) |
missense |
probably benign |
0.04 |
Flypaper
|
UTSW |
17 |
43,422,661 (GRCm38) |
splice site |
probably benign |
|
goop
|
UTSW |
17 |
43,441,969 (GRCm38) |
missense |
probably damaging |
0.99 |
Heaped
|
UTSW |
17 |
43,447,036 (GRCm38) |
missense |
possibly damaging |
0.93 |
la_brea
|
UTSW |
17 |
43,452,323 (GRCm38) |
critical splice donor site |
probably null |
|
Motel
|
UTSW |
17 |
43,450,380 (GRCm38) |
missense |
probably damaging |
1.00 |
noel
|
UTSW |
17 |
43,430,612 (GRCm38) |
missense |
probably damaging |
1.00 |
Schmutzfinger
|
UTSW |
17 |
43,424,818 (GRCm38) |
nonsense |
probably null |
|
sticky
|
UTSW |
17 |
43,437,571 (GRCm38) |
missense |
probably damaging |
0.98 |
sweetie
|
UTSW |
17 |
43,450,983 (GRCm38) |
missense |
probably damaging |
0.96 |
PIT4812001:Adgrf5
|
UTSW |
17 |
43,450,369 (GRCm38) |
missense |
probably damaging |
1.00 |
R0699:Adgrf5
|
UTSW |
17 |
43,422,661 (GRCm38) |
splice site |
probably null |
|
R0972:Adgrf5
|
UTSW |
17 |
43,450,983 (GRCm38) |
missense |
probably damaging |
0.96 |
R1521:Adgrf5
|
UTSW |
17 |
43,430,552 (GRCm38) |
missense |
probably benign |
0.03 |
R1523:Adgrf5
|
UTSW |
17 |
43,450,153 (GRCm38) |
missense |
probably benign |
0.00 |
R1758:Adgrf5
|
UTSW |
17 |
43,424,593 (GRCm38) |
critical splice donor site |
probably null |
|
R1767:Adgrf5
|
UTSW |
17 |
43,450,564 (GRCm38) |
missense |
possibly damaging |
0.87 |
R1799:Adgrf5
|
UTSW |
17 |
43,440,067 (GRCm38) |
missense |
probably damaging |
0.98 |
R1800:Adgrf5
|
UTSW |
17 |
43,451,082 (GRCm38) |
missense |
probably damaging |
1.00 |
R1888:Adgrf5
|
UTSW |
17 |
43,427,005 (GRCm38) |
splice site |
probably null |
|
R1888:Adgrf5
|
UTSW |
17 |
43,427,005 (GRCm38) |
splice site |
probably null |
|
R2057:Adgrf5
|
UTSW |
17 |
43,428,586 (GRCm38) |
missense |
possibly damaging |
0.88 |
R2058:Adgrf5
|
UTSW |
17 |
43,428,586 (GRCm38) |
missense |
possibly damaging |
0.88 |
R2059:Adgrf5
|
UTSW |
17 |
43,428,586 (GRCm38) |
missense |
possibly damaging |
0.88 |
R2410:Adgrf5
|
UTSW |
17 |
43,455,266 (GRCm38) |
missense |
probably benign |
0.11 |
R2568:Adgrf5
|
UTSW |
17 |
43,437,671 (GRCm38) |
missense |
probably damaging |
1.00 |
R2847:Adgrf5
|
UTSW |
17 |
43,422,640 (GRCm38) |
missense |
possibly damaging |
0.69 |
R2848:Adgrf5
|
UTSW |
17 |
43,422,640 (GRCm38) |
missense |
possibly damaging |
0.69 |
R3800:Adgrf5
|
UTSW |
17 |
43,447,060 (GRCm38) |
splice site |
probably benign |
|
R3856:Adgrf5
|
UTSW |
17 |
43,447,036 (GRCm38) |
missense |
possibly damaging |
0.93 |
R4021:Adgrf5
|
UTSW |
17 |
43,430,714 (GRCm38) |
splice site |
probably benign |
|
R4075:Adgrf5
|
UTSW |
17 |
43,450,195 (GRCm38) |
missense |
probably damaging |
1.00 |
R4366:Adgrf5
|
UTSW |
17 |
43,441,969 (GRCm38) |
missense |
probably damaging |
0.99 |
R4409:Adgrf5
|
UTSW |
17 |
43,441,847 (GRCm38) |
missense |
probably damaging |
1.00 |
R4570:Adgrf5
|
UTSW |
17 |
43,445,115 (GRCm38) |
missense |
probably benign |
0.04 |
R4616:Adgrf5
|
UTSW |
17 |
43,452,440 (GRCm38) |
missense |
probably benign |
0.38 |
R4623:Adgrf5
|
UTSW |
17 |
43,450,983 (GRCm38) |
missense |
probably benign |
0.16 |
R4645:Adgrf5
|
UTSW |
17 |
43,437,525 (GRCm38) |
missense |
probably damaging |
1.00 |
R5211:Adgrf5
|
UTSW |
17 |
43,422,620 (GRCm38) |
missense |
probably benign |
0.32 |
R5268:Adgrf5
|
UTSW |
17 |
43,450,999 (GRCm38) |
missense |
probably damaging |
1.00 |
R5280:Adgrf5
|
UTSW |
17 |
43,426,334 (GRCm38) |
missense |
probably damaging |
1.00 |
R5326:Adgrf5
|
UTSW |
17 |
43,440,074 (GRCm38) |
missense |
probably damaging |
0.98 |
R5762:Adgrf5
|
UTSW |
17 |
43,430,695 (GRCm38) |
missense |
probably null |
0.16 |
R5856:Adgrf5
|
UTSW |
17 |
43,446,120 (GRCm38) |
missense |
probably benign |
0.09 |
R6007:Adgrf5
|
UTSW |
17 |
43,437,571 (GRCm38) |
missense |
probably damaging |
0.98 |
R6153:Adgrf5
|
UTSW |
17 |
43,451,083 (GRCm38) |
missense |
possibly damaging |
0.96 |
R6451:Adgrf5
|
UTSW |
17 |
43,424,818 (GRCm38) |
nonsense |
probably null |
|
R6535:Adgrf5
|
UTSW |
17 |
43,440,029 (GRCm38) |
missense |
probably benign |
0.05 |
R6536:Adgrf5
|
UTSW |
17 |
43,422,661 (GRCm38) |
splice site |
probably benign |
|
R6602:Adgrf5
|
UTSW |
17 |
43,450,304 (GRCm38) |
missense |
probably benign |
0.32 |
R6882:Adgrf5
|
UTSW |
17 |
43,450,380 (GRCm38) |
missense |
probably damaging |
1.00 |
R6992:Adgrf5
|
UTSW |
17 |
43,452,323 (GRCm38) |
critical splice donor site |
probably null |
|
R7137:Adgrf5
|
UTSW |
17 |
43,450,897 (GRCm38) |
missense |
probably damaging |
1.00 |
R7170:Adgrf5
|
UTSW |
17 |
43,446,138 (GRCm38) |
missense |
possibly damaging |
0.92 |
R7313:Adgrf5
|
UTSW |
17 |
43,452,477 (GRCm38) |
critical splice donor site |
probably null |
|
R7313:Adgrf5
|
UTSW |
17 |
43,445,083 (GRCm38) |
missense |
probably benign |
0.01 |
R7331:Adgrf5
|
UTSW |
17 |
43,437,593 (GRCm38) |
missense |
probably damaging |
0.99 |
R7346:Adgrf5
|
UTSW |
17 |
43,451,179 (GRCm38) |
missense |
probably damaging |
1.00 |
R7350:Adgrf5
|
UTSW |
17 |
43,428,444 (GRCm38) |
critical splice acceptor site |
probably null |
|
R7667:Adgrf5
|
UTSW |
17 |
43,446,039 (GRCm38) |
missense |
probably benign |
0.01 |
R7717:Adgrf5
|
UTSW |
17 |
43,450,753 (GRCm38) |
missense |
probably damaging |
1.00 |
R7731:Adgrf5
|
UTSW |
17 |
43,450,560 (GRCm38) |
missense |
probably damaging |
1.00 |
R7877:Adgrf5
|
UTSW |
17 |
43,441,838 (GRCm38) |
missense |
possibly damaging |
0.63 |
R7950:Adgrf5
|
UTSW |
17 |
43,451,157 (GRCm38) |
missense |
probably damaging |
0.99 |
R7988:Adgrf5
|
UTSW |
17 |
43,439,813 (GRCm38) |
intron |
probably benign |
|
R8188:Adgrf5
|
UTSW |
17 |
43,430,612 (GRCm38) |
missense |
probably damaging |
1.00 |
R8219:Adgrf5
|
UTSW |
17 |
43,449,859 (GRCm38) |
missense |
probably benign |
0.13 |
R8284:Adgrf5
|
UTSW |
17 |
43,455,270 (GRCm38) |
missense |
unknown |
|
R8460:Adgrf5
|
UTSW |
17 |
43,439,808 (GRCm38) |
intron |
probably benign |
|
R8504:Adgrf5
|
UTSW |
17 |
43,446,949 (GRCm38) |
missense |
probably benign |
0.01 |
R8852:Adgrf5
|
UTSW |
17 |
43,453,098 (GRCm38) |
missense |
possibly damaging |
0.82 |
R9196:Adgrf5
|
UTSW |
17 |
43,445,104 (GRCm38) |
missense |
possibly damaging |
0.94 |
R9418:Adgrf5
|
UTSW |
17 |
43,426,973 (GRCm38) |
missense |
probably benign |
0.00 |
R9671:Adgrf5
|
UTSW |
17 |
43,449,904 (GRCm38) |
missense |
probably damaging |
1.00 |
R9734:Adgrf5
|
UTSW |
17 |
43,452,308 (GRCm38) |
missense |
probably damaging |
1.00 |
R9756:Adgrf5
|
UTSW |
17 |
43,450,246 (GRCm38) |
missense |
probably benign |
0.01 |
R9765:Adgrf5
|
UTSW |
17 |
43,437,600 (GRCm38) |
missense |
probably damaging |
1.00 |
X0017:Adgrf5
|
UTSW |
17 |
43,427,045 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1177:Adgrf5
|
UTSW |
17 |
43,445,053 (GRCm38) |
missense |
probably benign |
0.00 |
Z1191:Adgrf5
|
UTSW |
17 |
43,445,035 (GRCm38) |
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 |