Incidental Mutation 'R0972:Adgrf5'
ID |
82910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrf5
|
Ensembl Gene |
ENSMUSG00000056492 |
Gene Name |
adhesion G protein-coupled receptor F5 |
Synonyms |
8430401C09Rik, Gpr116 |
MMRRC Submission |
039101-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0972 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
43671342-43770448 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43761874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 1190
(S1190C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113599]
[ENSMUST00000225962]
[ENSMUST00000226087]
|
AlphaFold |
G5E8Q8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082648
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113599
AA Change: S1190C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109229 Gene: ENSMUSG00000056492 AA Change: S1190C
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 |
possibly damaging
Transcript: ENSMUST00000225962
AA Change: S985C
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226087
AA Change: S1190C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
Validation Efficiency |
97% (72/74) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
A |
8: 41,208,168 (GRCm39) |
R478Q |
probably damaging |
Het |
Akr1a1 |
T |
C |
4: 116,497,204 (GRCm39) |
|
probably null |
Het |
Bco2 |
A |
T |
9: 50,447,615 (GRCm39) |
D369E |
probably benign |
Het |
Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
Brsk2 |
C |
G |
7: 141,547,441 (GRCm39) |
|
probably benign |
Het |
Cct8 |
A |
G |
16: 87,283,508 (GRCm39) |
V269A |
possibly damaging |
Het |
Cdh12 |
A |
T |
15: 21,237,850 (GRCm39) |
Q28H |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,354,624 (GRCm39) |
T896A |
probably benign |
Het |
Chrm2 |
T |
A |
6: 36,501,401 (GRCm39) |
N419K |
possibly damaging |
Het |
Clasp2 |
A |
T |
9: 113,676,773 (GRCm39) |
H168L |
possibly damaging |
Het |
Cog3 |
A |
T |
14: 75,954,610 (GRCm39) |
M643K |
probably benign |
Het |
Col6a5 |
A |
G |
9: 105,817,484 (GRCm39) |
S276P |
unknown |
Het |
Colgalt2 |
T |
C |
1: 152,347,495 (GRCm39) |
V143A |
probably damaging |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
Ddx56 |
A |
T |
11: 6,217,718 (GRCm39) |
M1K |
probably null |
Het |
Dnah3 |
C |
T |
7: 119,634,563 (GRCm39) |
|
probably null |
Het |
Dnah6 |
T |
C |
6: 73,136,176 (GRCm39) |
T988A |
possibly damaging |
Het |
Esp15 |
T |
A |
17: 39,953,557 (GRCm39) |
F15I |
possibly damaging |
Het |
Fam237b |
T |
A |
5: 5,625,512 (GRCm39) |
D69E |
probably benign |
Het |
Fbh1 |
C |
T |
2: 11,768,899 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
A |
T |
14: 62,646,127 (GRCm39) |
I572N |
possibly damaging |
Het |
Gucy1b2 |
T |
C |
14: 62,651,818 (GRCm39) |
I393V |
possibly damaging |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Herc1 |
C |
A |
9: 66,279,427 (GRCm39) |
R112S |
probably damaging |
Het |
Itga7 |
G |
A |
10: 128,778,746 (GRCm39) |
R291H |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,925,371 (GRCm39) |
L1077S |
possibly damaging |
Het |
Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
Klrc2 |
T |
C |
6: 129,635,726 (GRCm39) |
Y134C |
probably damaging |
Het |
Map2k2 |
C |
A |
10: 80,955,482 (GRCm39) |
D67E |
probably benign |
Het |
Mest |
G |
A |
6: 30,740,683 (GRCm39) |
W14* |
probably null |
Het |
Mier2 |
A |
G |
10: 79,380,455 (GRCm39) |
|
probably benign |
Het |
Mog |
A |
G |
17: 37,328,424 (GRCm39) |
V169A |
probably benign |
Het |
Mov10l1 |
T |
C |
15: 88,905,482 (GRCm39) |
V879A |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,203 (GRCm39) |
S155P |
probably damaging |
Het |
Mtmr10 |
A |
G |
7: 63,976,457 (GRCm39) |
D418G |
probably damaging |
Het |
Mtpn |
T |
C |
6: 35,498,911 (GRCm39) |
D58G |
probably null |
Het |
Myh8 |
A |
G |
11: 67,188,585 (GRCm39) |
R1056G |
probably damaging |
Het |
Nek1 |
T |
A |
8: 61,542,465 (GRCm39) |
|
probably null |
Het |
Or4k38 |
T |
C |
2: 111,165,763 (GRCm39) |
Y220C |
probably benign |
Het |
Or5al7 |
A |
C |
2: 85,992,648 (GRCm39) |
L215R |
possibly damaging |
Het |
Or8b36 |
T |
A |
9: 37,937,856 (GRCm39) |
F251L |
possibly damaging |
Het |
Pcnx1 |
G |
A |
12: 81,960,186 (GRCm39) |
D181N |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,655,592 (GRCm39) |
D495G |
probably benign |
Het |
Plppr3 |
A |
G |
10: 79,700,920 (GRCm39) |
S641P |
probably damaging |
Het |
Pramel11 |
T |
A |
4: 143,623,533 (GRCm39) |
T214S |
probably benign |
Het |
Prelp |
A |
T |
1: 133,842,414 (GRCm39) |
Y244N |
probably damaging |
Het |
Prg2 |
C |
A |
2: 84,812,393 (GRCm39) |
N34K |
probably benign |
Het |
Ptp4a1 |
A |
G |
1: 30,984,080 (GRCm39) |
V46A |
possibly damaging |
Het |
Rpl6 |
A |
G |
5: 121,346,565 (GRCm39) |
D222G |
possibly damaging |
Het |
Rtp1 |
A |
T |
16: 23,250,058 (GRCm39) |
D141V |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,449,412 (GRCm39) |
Y3819* |
probably null |
Het |
Serinc5 |
A |
G |
13: 92,825,128 (GRCm39) |
T186A |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,577,501 (GRCm39) |
S422P |
probably benign |
Het |
Slc2a8 |
A |
T |
2: 32,865,379 (GRCm39) |
V366D |
probably benign |
Het |
Smarca1 |
T |
C |
X: 46,938,864 (GRCm39) |
R715G |
possibly damaging |
Het |
Spdef |
C |
T |
17: 27,933,997 (GRCm39) |
A275T |
probably damaging |
Het |
Tcf21 |
T |
C |
10: 22,695,621 (GRCm39) |
K61R |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,061,753 (GRCm39) |
|
probably benign |
Het |
Thada |
G |
A |
17: 84,736,490 (GRCm39) |
|
probably benign |
Het |
Thap11 |
T |
A |
8: 106,582,810 (GRCm39) |
I273N |
probably damaging |
Het |
Tmem129 |
T |
A |
5: 33,812,112 (GRCm39) |
E262V |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,904,117 (GRCm39) |
Y1086C |
probably damaging |
Het |
Togaram2 |
A |
G |
17: 72,014,309 (GRCm39) |
Y619C |
probably damaging |
Het |
Top1 |
C |
T |
2: 160,562,945 (GRCm39) |
A717V |
probably damaging |
Het |
Trpm7 |
G |
A |
2: 126,646,969 (GRCm39) |
P1507S |
probably benign |
Het |
Ubr2 |
A |
T |
17: 47,245,187 (GRCm39) |
|
probably null |
Het |
Usp30 |
T |
C |
5: 114,249,925 (GRCm39) |
|
probably benign |
Het |
Vmn1r3 |
T |
A |
4: 3,185,125 (GRCm39) |
I61F |
probably damaging |
Het |
Zbtb22 |
C |
T |
17: 34,136,326 (GRCm39) |
T157I |
possibly damaging |
Het |
Zfp677 |
A |
T |
17: 21,618,572 (GRCm39) |
H543L |
probably damaging |
Het |
Zranb3 |
G |
T |
1: 127,884,383 (GRCm39) |
P1001Q |
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 |
|
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 |
R8751:Adgrf5
|
UTSW |
17 |
43,748,574 (GRCm39) |
missense |
possibly damaging |
0.80 |
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'- TGCATAGTCAACATTGCCTTTTGCC -3'
(R):5'- ACAGCATTGCTTCCCTGGATCAC -3'
Sequencing Primer
(F):5'- TCAACGAAACAGCCTGTGTG -3'
(R):5'- CTGGATCACTGTGGCAAGAC -3'
|
Posted On |
2013-11-08 |