Incidental Mutation 'R9207:Adgrf1'
ID |
698603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrf1
|
Ensembl Gene |
ENSMUSG00000041293 |
Gene Name |
adhesion G protein-coupled receptor F1 |
Synonyms |
5031409J19Rik, Gpr110 |
MMRRC Submission |
068981-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9207 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
43581220-43635628 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43621164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 467
(D467G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047399]
|
AlphaFold |
Q8VEC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047399
AA Change: D467G
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000049380 Gene: ENSMUSG00000041293 AA Change: D467G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (43/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
G |
8: 60,979,657 (GRCm39) |
I173S |
probably damaging |
Het |
Actrt2 |
T |
A |
4: 154,751,920 (GRCm39) |
H72L |
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,215,616 (GRCm39) |
L226P |
|
Het |
Begain |
T |
C |
12: 108,999,250 (GRCm39) |
D507G |
probably damaging |
Het |
Bsdc1 |
A |
G |
4: 129,362,830 (GRCm39) |
N134S |
probably benign |
Het |
Ccdc39 |
C |
A |
3: 33,886,706 (GRCm39) |
E301* |
probably null |
Het |
Cdh23 |
A |
G |
10: 60,243,210 (GRCm39) |
V1055A |
probably damaging |
Het |
Efcab8 |
A |
G |
2: 153,656,339 (GRCm39) |
D591G |
unknown |
Het |
Fibcd1 |
G |
A |
2: 31,706,455 (GRCm39) |
R459C |
probably damaging |
Het |
Frem3 |
T |
G |
8: 81,340,071 (GRCm39) |
V788G |
possibly damaging |
Het |
Ftcd |
A |
T |
10: 76,422,973 (GRCm39) |
I423L |
probably benign |
Het |
Gad1 |
G |
A |
2: 70,409,546 (GRCm39) |
|
probably null |
Het |
Gm8229 |
T |
C |
14: 44,606,238 (GRCm39) |
L156P |
|
Het |
Grm7 |
T |
C |
6: 111,335,874 (GRCm39) |
Y762H |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,433,496 (GRCm39) |
V937D |
possibly damaging |
Het |
Ifnz |
T |
C |
4: 88,701,525 (GRCm39) |
V168A |
probably benign |
Het |
Irx4 |
C |
G |
13: 73,416,649 (GRCm39) |
C348W |
probably damaging |
Het |
Itgb4 |
G |
T |
11: 115,897,923 (GRCm39) |
G1603V |
probably damaging |
Het |
Krt32 |
A |
G |
11: 99,977,580 (GRCm39) |
V162A |
possibly damaging |
Het |
Mpped2 |
A |
G |
2: 106,697,319 (GRCm39) |
T265A |
probably benign |
Het |
Npas3 |
T |
C |
12: 54,114,818 (GRCm39) |
L580P |
possibly damaging |
Het |
Or4f47 |
G |
A |
2: 111,972,397 (GRCm39) |
V36M |
probably benign |
Het |
Or5b109 |
A |
T |
19: 13,212,400 (GRCm39) |
Q262L |
possibly damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,960 (GRCm39) |
M136I |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,058,117 (GRCm39) |
L3940P |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,763,904 (GRCm39) |
Y283H |
probably damaging |
Het |
Rad54l |
T |
C |
4: 115,967,215 (GRCm39) |
H281R |
probably damaging |
Het |
Rftn2 |
T |
A |
1: 55,224,149 (GRCm39) |
Q397L |
probably damaging |
Het |
Rnf166 |
C |
T |
8: 123,195,068 (GRCm39) |
A151T |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,246,113 (GRCm39) |
I604N |
possibly damaging |
Het |
Smr2 |
A |
G |
5: 88,256,726 (GRCm39) |
T135A |
unknown |
Het |
Snai2 |
C |
A |
16: 14,524,946 (GRCm39) |
H151N |
possibly damaging |
Het |
Spag6l |
A |
T |
16: 16,598,492 (GRCm39) |
I333N |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,039,139 (GRCm39) |
T1161A |
probably benign |
Het |
Sult2a1 |
G |
T |
7: 13,566,627 (GRCm39) |
A116E |
probably benign |
Het |
Tas2r120 |
T |
A |
6: 132,634,626 (GRCm39) |
L236* |
probably null |
Het |
Tchhl1 |
T |
A |
3: 93,377,819 (GRCm39) |
N174K |
possibly damaging |
Het |
Tex15 |
T |
C |
8: 34,065,784 (GRCm39) |
L1738P |
probably damaging |
Het |
Timp4 |
T |
C |
6: 115,224,270 (GRCm39) |
Y133C |
probably damaging |
Het |
Tmem25 |
A |
G |
9: 44,710,476 (GRCm39) |
|
probably null |
Het |
Tubd1 |
A |
T |
11: 86,456,537 (GRCm39) |
T399S |
probably benign |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Zfp110 |
A |
T |
7: 12,582,485 (GRCm39) |
I378L |
probably benign |
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 |
R2009:Adgrf1
|
UTSW |
17 |
43,632,112 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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'- AAGCATCAGTAGTCTCATCCCTTC -3'
(R):5'- AGCCTGCATTGCTCCATTGC -3'
Sequencing Primer
(F):5'- AGTAGTCTCATCCCTTCCATGG -3'
(R):5'- TGCTCCATTGCAACTGGCTAAAATC -3'
|
Posted On |
2022-02-07 |