Incidental Mutation 'R2009:Adgrf1'
ID |
219403 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrf1
|
Ensembl Gene |
ENSMUSG00000041293 |
Gene Name |
adhesion G protein-coupled receptor F1 |
Synonyms |
5031409J19Rik, Gpr110 |
MMRRC Submission |
040018-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2009 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
43581220-43635628 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 43632112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 884
(R884*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047399]
|
AlphaFold |
Q8VEC3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047399
AA Change: R884*
|
SMART Domains |
Protein: ENSMUSP00000049380 Gene: ENSMUSG00000041293 AA Change: R884*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
59 |
83 |
N/A |
INTRINSIC |
Pfam:SEA
|
150 |
238 |
3.7e-10 |
PFAM |
low complexity region
|
341 |
363 |
N/A |
INTRINSIC |
GPS
|
528 |
576 |
5.56e-15 |
SMART |
Pfam:7tm_2
|
580 |
832 |
2.1e-38 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (47/47) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
T |
A |
9: 30,833,433 (GRCm39) |
D34V |
probably benign |
Het |
Adgrg7 |
T |
C |
16: 56,582,236 (GRCm39) |
T301A |
probably benign |
Het |
Arhgef17 |
A |
G |
7: 100,530,988 (GRCm39) |
I1366T |
probably damaging |
Het |
C1s2 |
A |
T |
6: 124,612,048 (GRCm39) |
L112H |
probably damaging |
Het |
C2cd6 |
A |
T |
1: 59,042,391 (GRCm39) |
|
noncoding transcript |
Het |
Cfap74 |
G |
A |
4: 155,504,724 (GRCm39) |
R103H |
possibly damaging |
Het |
Col7a1 |
A |
T |
9: 108,797,943 (GRCm39) |
|
probably null |
Het |
Dmp1 |
A |
G |
5: 104,360,706 (GRCm39) |
S461G |
probably damaging |
Het |
Eif4g2 |
A |
T |
7: 110,673,405 (GRCm39) |
D753E |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Etv4 |
T |
C |
11: 101,665,063 (GRCm39) |
D130G |
probably damaging |
Het |
Gabbr2 |
A |
T |
4: 46,734,119 (GRCm39) |
I533N |
probably damaging |
Het |
Gne |
T |
C |
4: 44,055,273 (GRCm39) |
E234G |
probably benign |
Het |
Itga6 |
C |
A |
2: 71,647,025 (GRCm39) |
N78K |
probably benign |
Het |
Lap3 |
C |
T |
5: 45,650,899 (GRCm39) |
T33M |
probably benign |
Het |
Limd1 |
A |
G |
9: 123,308,564 (GRCm39) |
S88G |
probably benign |
Het |
Lrp1 |
G |
T |
10: 127,380,385 (GRCm39) |
T3922K |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,971,517 (GRCm39) |
|
probably benign |
Het |
Mib1 |
T |
C |
18: 10,812,118 (GRCm39) |
L263S |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,216,427 (GRCm39) |
S1474G |
probably benign |
Het |
Nkapl |
A |
C |
13: 21,651,607 (GRCm39) |
S335R |
probably damaging |
Het |
Nrg3 |
A |
G |
14: 38,092,771 (GRCm39) |
S605P |
probably damaging |
Het |
Or10x4 |
G |
T |
1: 174,218,995 (GRCm39) |
R120L |
possibly damaging |
Het |
Or52b3 |
A |
G |
7: 102,204,151 (GRCm39) |
Y220C |
probably damaging |
Het |
Patj |
G |
A |
4: 98,344,406 (GRCm39) |
D577N |
probably damaging |
Het |
Pfpl |
A |
C |
19: 12,407,319 (GRCm39) |
K523N |
possibly damaging |
Het |
Pik3c2a |
A |
C |
7: 115,963,738 (GRCm39) |
L924R |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,144,403 (GRCm39) |
R278L |
probably benign |
Het |
Prss2 |
A |
T |
6: 41,500,910 (GRCm39) |
I108F |
probably damaging |
Het |
Rnase2b |
A |
G |
14: 51,400,347 (GRCm39) |
T143A |
possibly damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Sphk2 |
A |
T |
7: 45,360,437 (GRCm39) |
H522Q |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,235,261 (GRCm39) |
|
probably null |
Het |
Tmem88 |
C |
A |
11: 69,288,602 (GRCm39) |
A106S |
probably damaging |
Het |
Trappc14 |
C |
A |
5: 138,259,191 (GRCm39) |
C434F |
probably damaging |
Het |
Trim39 |
A |
G |
17: 36,574,646 (GRCm39) |
L252S |
possibly damaging |
Het |
Trim60 |
T |
A |
8: 65,453,975 (GRCm39) |
E91D |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,641,475 (GRCm39) |
I145T |
possibly damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,595,729 (GRCm39) |
M761L |
probably benign |
Het |
Wdr4 |
G |
A |
17: 31,719,584 (GRCm39) |
|
probably benign |
Het |
Wfs1 |
A |
T |
5: 37,125,653 (GRCm39) |
S413T |
probably damaging |
Het |
Wnt2 |
A |
T |
6: 18,030,208 (GRCm39) |
W27R |
probably damaging |
Het |
Zc3h3 |
A |
T |
15: 75,651,158 (GRCm39) |
H687Q |
probably damaging |
Het |
Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
possibly damaging |
Het |
|
Other mutations in Adgrf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01343:Adgrf1
|
APN |
17 |
43,624,086 (GRCm39) |
missense |
probably null |
0.92 |
IGL01359:Adgrf1
|
APN |
17 |
43,621,577 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02131:Adgrf1
|
APN |
17 |
43,614,638 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02692:Adgrf1
|
APN |
17 |
43,614,669 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02891:Adgrf1
|
APN |
17 |
43,622,052 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03027:Adgrf1
|
APN |
17 |
43,607,605 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03296:Adgrf1
|
APN |
17 |
43,632,044 (GRCm39) |
splice site |
probably benign |
|
R0211:Adgrf1
|
UTSW |
17 |
43,607,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:Adgrf1
|
UTSW |
17 |
43,607,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Adgrf1
|
UTSW |
17 |
43,614,679 (GRCm39) |
critical splice donor site |
probably null |
|
R0488:Adgrf1
|
UTSW |
17 |
43,621,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R1591:Adgrf1
|
UTSW |
17 |
43,621,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Adgrf1
|
UTSW |
17 |
43,620,924 (GRCm39) |
missense |
probably benign |
0.01 |
R1819:Adgrf1
|
UTSW |
17 |
43,620,924 (GRCm39) |
missense |
probably benign |
0.01 |
R2032:Adgrf1
|
UTSW |
17 |
43,622,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R2140:Adgrf1
|
UTSW |
17 |
43,611,693 (GRCm39) |
missense |
probably damaging |
0.99 |
R3953:Adgrf1
|
UTSW |
17 |
43,621,098 (GRCm39) |
missense |
probably benign |
0.08 |
R4679:Adgrf1
|
UTSW |
17 |
43,621,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Adgrf1
|
UTSW |
17 |
43,622,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Adgrf1
|
UTSW |
17 |
43,614,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R4894:Adgrf1
|
UTSW |
17 |
43,609,975 (GRCm39) |
nonsense |
probably null |
|
R4895:Adgrf1
|
UTSW |
17 |
43,621,511 (GRCm39) |
missense |
probably benign |
0.33 |
R4935:Adgrf1
|
UTSW |
17 |
43,606,130 (GRCm39) |
missense |
probably benign |
0.00 |
R5027:Adgrf1
|
UTSW |
17 |
43,614,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R5373:Adgrf1
|
UTSW |
17 |
43,601,896 (GRCm39) |
start gained |
probably benign |
|
R5374:Adgrf1
|
UTSW |
17 |
43,601,896 (GRCm39) |
start gained |
probably benign |
|
R5455:Adgrf1
|
UTSW |
17 |
43,632,034 (GRCm39) |
splice site |
probably null |
|
R5579:Adgrf1
|
UTSW |
17 |
43,621,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R5985:Adgrf1
|
UTSW |
17 |
43,604,146 (GRCm39) |
missense |
probably benign |
0.00 |
R6038:Adgrf1
|
UTSW |
17 |
43,606,100 (GRCm39) |
missense |
probably benign |
0.00 |
R6038:Adgrf1
|
UTSW |
17 |
43,606,100 (GRCm39) |
missense |
probably benign |
0.00 |
R6160:Adgrf1
|
UTSW |
17 |
43,621,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R6227:Adgrf1
|
UTSW |
17 |
43,621,164 (GRCm39) |
missense |
probably benign |
0.05 |
R6500:Adgrf1
|
UTSW |
17 |
43,621,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R7066:Adgrf1
|
UTSW |
17 |
43,621,151 (GRCm39) |
missense |
probably benign |
0.05 |
R7099:Adgrf1
|
UTSW |
17 |
43,621,493 (GRCm39) |
missense |
probably benign |
0.00 |
R7561:Adgrf1
|
UTSW |
17 |
43,622,000 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8359:Adgrf1
|
UTSW |
17 |
43,621,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R8480:Adgrf1
|
UTSW |
17 |
43,606,055 (GRCm39) |
missense |
probably benign |
0.08 |
R8543:Adgrf1
|
UTSW |
17 |
43,624,097 (GRCm39) |
missense |
probably null |
0.99 |
R9023:Adgrf1
|
UTSW |
17 |
43,614,651 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9074:Adgrf1
|
UTSW |
17 |
43,601,879 (GRCm39) |
start gained |
probably benign |
|
R9207:Adgrf1
|
UTSW |
17 |
43,621,164 (GRCm39) |
missense |
probably benign |
0.05 |
R9232:Adgrf1
|
UTSW |
17 |
43,621,295 (GRCm39) |
missense |
probably benign |
0.07 |
R9425:Adgrf1
|
UTSW |
17 |
43,621,274 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9526:Adgrf1
|
UTSW |
17 |
43,616,237 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9697:Adgrf1
|
UTSW |
17 |
43,625,362 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9711:Adgrf1
|
UTSW |
17 |
43,621,580 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1177:Adgrf1
|
UTSW |
17 |
43,621,038 (GRCm39) |
missense |
probably benign |
0.14 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACACATAAAATTTTGCTTGGGC -3'
(R):5'- CACCAGATCCTCAGCATTGC -3'
Sequencing Primer
(F):5'- TTCCAGGGCAGTCAAAGC -3'
(R):5'- AGATCCTCAGCATTGCTTTACCAG -3'
|
Posted On |
2014-08-25 |