Incidental Mutation 'R8480:Adgrf1'
| ID |
657504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf1
|
| Ensembl Gene |
ENSMUSG00000041293 |
| Gene Name |
adhesion G protein-coupled receptor F1 |
| Synonyms |
5031409J19Rik, Gpr110 |
| MMRRC Submission |
067924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43581220-43635628 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43606055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 60
(E60K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047399]
|
| AlphaFold |
Q8VEC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047399
AA Change: E60K
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000049380
Gene: ENSMUSG00000041293
AA Change: E60K
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (53/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
G |
A |
15: 101,108,720 (GRCm39) |
V499M |
possibly damaging |
Het |
| Adam5 |
G |
A |
8: 25,294,475 (GRCm39) |
Q375* |
probably null |
Het |
| Alb |
T |
C |
5: 90,610,630 (GRCm39) |
V70A |
probably damaging |
Het |
| Aph1b |
T |
A |
9: 66,695,709 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
G |
A |
9: 105,274,189 (GRCm39) |
R143Q |
possibly damaging |
Het |
| Aste1 |
A |
T |
9: 105,274,995 (GRCm39) |
T351S |
probably damaging |
Het |
| Bace2 |
T |
A |
16: 97,214,670 (GRCm39) |
L286Q |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,163 (GRCm39) |
G235R |
probably damaging |
Het |
| Bpnt2 |
C |
T |
4: 4,769,376 (GRCm39) |
M246I |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,848,630 (GRCm39) |
H516Q |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,842,486 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
T |
A |
2: 164,988,646 (GRCm39) |
E236D |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,975,043 (GRCm39) |
D1234G |
probably benign |
Het |
| Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
| Cpt2 |
A |
G |
4: 107,764,957 (GRCm39) |
I269T |
probably damaging |
Het |
| Dcaf7 |
T |
A |
11: 105,945,619 (GRCm39) |
S323T |
probably benign |
Het |
| Ddias |
G |
T |
7: 92,508,608 (GRCm39) |
Q436K |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,972,335 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
A |
14: 68,073,859 (GRCm39) |
I294F |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,794 (GRCm39) |
D2306E |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,280 (GRCm39) |
D626V |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,290 (GRCm39) |
T27A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,373,568 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
A |
T |
5: 149,551,029 (GRCm39) |
W406R |
probably null |
Het |
| Ighv1-66 |
C |
T |
12: 115,557,002 (GRCm39) |
G27R |
possibly damaging |
Het |
| Krt26 |
T |
C |
11: 99,228,426 (GRCm39) |
E102G |
probably damaging |
Het |
| Krt34 |
T |
A |
11: 99,930,971 (GRCm39) |
|
probably null |
Het |
| Krt36 |
T |
C |
11: 99,993,635 (GRCm39) |
D401G |
possibly damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,518,827 (GRCm39) |
G326S |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,633,802 (GRCm39) |
N758S |
probably damaging |
Het |
| Mrtfb |
A |
T |
16: 13,202,056 (GRCm39) |
|
probably null |
Het |
| Muc4 |
C |
T |
16: 32,574,421 (GRCm39) |
T957I |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,358,743 (GRCm39) |
Y831C |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,678,859 (GRCm39) |
V829E |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,557,827 (GRCm39) |
L72F |
possibly damaging |
Het |
| Or4f14d |
A |
T |
2: 111,960,330 (GRCm39) |
D275E |
possibly damaging |
Het |
| Pcdh7 |
T |
A |
5: 58,286,407 (GRCm39) |
V1161E |
probably damaging |
Het |
| Raver1 |
A |
G |
9: 21,001,576 (GRCm39) |
Y86H |
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,588,705 (GRCm39) |
H1035Q |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,411,284 (GRCm39) |
M814K |
probably benign |
Het |
| Sh3d19 |
T |
G |
3: 85,992,184 (GRCm39) |
W71G |
probably benign |
Het |
| Sidt1 |
T |
C |
16: 44,065,529 (GRCm39) |
Y759C |
probably damaging |
Het |
| Spg11 |
G |
T |
2: 121,943,560 (GRCm39) |
D197E |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
A |
T |
7: 4,939,328 (GRCm39) |
D588V |
probably damaging |
Het |
| Supt20 |
C |
A |
3: 54,614,537 (GRCm39) |
T181K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,244,015 (GRCm39) |
S1363R |
probably benign |
Het |
| Tbcel |
G |
A |
9: 42,375,169 (GRCm39) |
|
probably null |
Het |
| Ube2e3 |
T |
C |
2: 78,749,158 (GRCm39) |
L169P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,778,796 (GRCm39) |
F595S |
probably benign |
Het |
| Zfp473 |
G |
T |
7: 44,382,323 (GRCm39) |
P670Q |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,986,299 (GRCm39) |
A660V |
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 |
|
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'- AACTGGCCTAGCAGAAGTGG -3'
(R):5'- AGCAACCCTTCATTGTGGC -3'
Sequencing Primer
(F):5'- TCAGTCAATGTCTGGATGTACAG -3'
(R):5'- ACCCTTCATTGTGGCCCACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation