Incidental Mutation 'R8556:Adgrl4'
ID |
660096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrl4
|
Ensembl Gene |
ENSMUSG00000039167 |
Gene Name |
adhesion G protein-coupled receptor L4 |
Synonyms |
EGF-TM7 receptor, Eltd1, 1110033N21Rik, Etl |
MMRRC Submission |
068519-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8556 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
151143519-151250718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 151216302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 495
(I495T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
|
AlphaFold |
Q923X1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046977
AA Change: I495T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041939 Gene: ENSMUSG00000039167 AA Change: I495T
Domain | Start | End | E-Value | Type |
EGF
|
21 |
57 |
9.13e0 |
SMART |
EGF_CA
|
58 |
107 |
4.88e-9 |
SMART |
EGF_CA
|
108 |
157 |
4.88e-9 |
SMART |
Pfam:GAIN
|
182 |
390 |
6.8e-38 |
PFAM |
GPS
|
414 |
467 |
1.25e-17 |
SMART |
Pfam:7tm_2
|
473 |
709 |
2.5e-58 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (51/51) |
MGI Phenotype |
PHENOTYPE: For a targeted mutation, no significant differences were detected between homozygous mice and controls in a high-throughput screen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadvl |
A |
T |
11: 69,904,376 (GRCm39) |
M148K |
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,779,094 (GRCm39) |
Y982C |
possibly damaging |
Het |
Ankfn1 |
A |
T |
11: 89,332,268 (GRCm39) |
I426K |
possibly damaging |
Het |
Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
Cdan1 |
C |
T |
2: 120,553,471 (GRCm39) |
V971M |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,944,252 (GRCm39) |
F1074S |
probably damaging |
Het |
Crk |
A |
G |
11: 75,583,347 (GRCm39) |
K189R |
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,895,268 (GRCm39) |
L1254P |
probably damaging |
Het |
Dlec1 |
A |
G |
9: 118,955,289 (GRCm39) |
T658A |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,212,457 (GRCm39) |
D1228G |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,113,198 (GRCm39) |
Y209C |
probably benign |
Het |
Edem3 |
G |
A |
1: 151,660,586 (GRCm39) |
V283I |
possibly damaging |
Het |
Elavl1 |
A |
G |
8: 4,345,388 (GRCm39) |
S202P |
possibly damaging |
Het |
Eprs1 |
G |
A |
1: 185,152,485 (GRCm39) |
|
probably null |
Het |
Esp31 |
A |
T |
17: 38,951,942 (GRCm39) |
M1L |
probably benign |
Het |
Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
Helz2 |
A |
G |
2: 180,871,350 (GRCm39) |
V2754A |
probably damaging |
Het |
Hgsnat |
C |
T |
8: 26,443,308 (GRCm39) |
|
probably null |
Het |
Hoxb6 |
G |
T |
11: 96,191,543 (GRCm39) |
R155L |
probably damaging |
Het |
Igkv6-17 |
T |
C |
6: 70,348,746 (GRCm39) |
V39A |
probably damaging |
Het |
Iqgap1 |
G |
A |
7: 80,375,787 (GRCm39) |
L1363F |
probably damaging |
Het |
Lcor |
TCA |
T |
19: 41,546,863 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
G |
4: 123,382,136 (GRCm39) |
S476P |
probably damaging |
Het |
Mdh1b |
A |
C |
1: 63,750,141 (GRCm39) |
|
probably null |
Het |
Muc16 |
T |
A |
9: 18,552,233 (GRCm39) |
I4687L |
probably benign |
Het |
Mylk3 |
T |
C |
8: 86,053,902 (GRCm39) |
M672V |
possibly damaging |
Het |
Nbea |
A |
G |
3: 55,554,807 (GRCm39) |
F2614L |
probably benign |
Het |
Or4p8 |
A |
T |
2: 88,727,382 (GRCm39) |
C186* |
probably null |
Het |
Otop3 |
T |
A |
11: 115,235,782 (GRCm39) |
D471E |
probably benign |
Het |
Pds5b |
G |
A |
5: 150,716,073 (GRCm39) |
M1077I |
probably benign |
Het |
Plppr5 |
T |
A |
3: 117,465,679 (GRCm39) |
L310Q |
probably benign |
Het |
Ptpn13 |
G |
A |
5: 103,707,038 (GRCm39) |
E1416K |
probably damaging |
Het |
Ptprj |
A |
G |
2: 90,271,044 (GRCm39) |
L1228P |
probably damaging |
Het |
Rbm12 |
T |
C |
2: 155,938,481 (GRCm39) |
D597G |
probably damaging |
Het |
Ret |
A |
G |
6: 118,146,149 (GRCm39) |
F777L |
probably damaging |
Het |
Rrbp1 |
A |
T |
2: 143,831,045 (GRCm39) |
V374D |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,127,593 (GRCm39) |
|
probably null |
Het |
Serpina1a |
T |
A |
12: 103,822,229 (GRCm39) |
K234N |
probably damaging |
Het |
Snx20 |
T |
A |
8: 89,356,661 (GRCm39) |
M52L |
probably benign |
Het |
Svs6 |
T |
C |
2: 164,159,485 (GRCm39) |
S83P |
possibly damaging |
Het |
Tdp1 |
T |
C |
12: 99,857,527 (GRCm39) |
S29P |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,675,985 (GRCm39) |
N697S |
probably benign |
Het |
Trgc4 |
A |
G |
13: 19,528,952 (GRCm39) |
|
probably benign |
Het |
Trpv3 |
A |
G |
11: 73,178,291 (GRCm39) |
I453V |
probably benign |
Het |
Trrap |
T |
C |
5: 144,762,747 (GRCm39) |
F2407L |
probably benign |
Het |
Tsc22d4 |
T |
C |
5: 137,745,849 (GRCm39) |
S158P |
probably damaging |
Het |
Uaca |
A |
T |
9: 60,777,923 (GRCm39) |
K768M |
probably damaging |
Het |
Wdr20rt |
G |
A |
12: 65,273,739 (GRCm39) |
V228I |
probably benign |
Het |
Zbtb7b |
T |
C |
3: 89,300,444 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Adgrl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00488:Adgrl4
|
APN |
3 |
151,248,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00694:Adgrl4
|
APN |
3 |
151,145,033 (GRCm39) |
splice site |
probably benign |
|
IGL01143:Adgrl4
|
APN |
3 |
151,205,866 (GRCm39) |
splice site |
probably null |
|
IGL01359:Adgrl4
|
APN |
3 |
151,248,923 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01947:Adgrl4
|
APN |
3 |
151,216,428 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02149:Adgrl4
|
APN |
3 |
151,205,991 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02324:Adgrl4
|
APN |
3 |
151,203,511 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02562:Adgrl4
|
APN |
3 |
151,144,949 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02644:Adgrl4
|
APN |
3 |
151,198,007 (GRCm39) |
missense |
probably benign |
0.00 |
trivial
|
UTSW |
3 |
151,223,247 (GRCm39) |
missense |
probably benign |
0.07 |
R0077:Adgrl4
|
UTSW |
3 |
151,223,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Adgrl4
|
UTSW |
3 |
151,223,247 (GRCm39) |
missense |
probably benign |
0.07 |
R0331:Adgrl4
|
UTSW |
3 |
151,203,577 (GRCm39) |
missense |
probably benign |
0.00 |
R0601:Adgrl4
|
UTSW |
3 |
151,204,066 (GRCm39) |
splice site |
probably benign |
|
R0613:Adgrl4
|
UTSW |
3 |
151,248,859 (GRCm39) |
splice site |
probably benign |
|
R1293:Adgrl4
|
UTSW |
3 |
151,213,081 (GRCm39) |
missense |
probably benign |
0.00 |
R1463:Adgrl4
|
UTSW |
3 |
151,216,233 (GRCm39) |
missense |
probably damaging |
0.98 |
R1697:Adgrl4
|
UTSW |
3 |
151,223,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R1731:Adgrl4
|
UTSW |
3 |
151,246,623 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1765:Adgrl4
|
UTSW |
3 |
151,248,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R1782:Adgrl4
|
UTSW |
3 |
151,248,442 (GRCm39) |
nonsense |
probably null |
|
R1888:Adgrl4
|
UTSW |
3 |
151,144,914 (GRCm39) |
missense |
probably benign |
0.11 |
R1888:Adgrl4
|
UTSW |
3 |
151,144,914 (GRCm39) |
missense |
probably benign |
0.11 |
R1957:Adgrl4
|
UTSW |
3 |
151,216,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2128:Adgrl4
|
UTSW |
3 |
151,205,838 (GRCm39) |
missense |
probably benign |
0.00 |
R2180:Adgrl4
|
UTSW |
3 |
151,205,779 (GRCm39) |
missense |
probably damaging |
0.96 |
R2238:Adgrl4
|
UTSW |
3 |
151,205,779 (GRCm39) |
missense |
probably damaging |
0.96 |
R2474:Adgrl4
|
UTSW |
3 |
151,248,361 (GRCm39) |
missense |
probably benign |
0.01 |
R2697:Adgrl4
|
UTSW |
3 |
151,216,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R3835:Adgrl4
|
UTSW |
3 |
151,216,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R4499:Adgrl4
|
UTSW |
3 |
151,216,422 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4640:Adgrl4
|
UTSW |
3 |
151,205,947 (GRCm39) |
unclassified |
probably benign |
|
R4747:Adgrl4
|
UTSW |
3 |
151,213,077 (GRCm39) |
missense |
probably benign |
0.01 |
R5428:Adgrl4
|
UTSW |
3 |
151,248,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R5510:Adgrl4
|
UTSW |
3 |
151,203,467 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5717:Adgrl4
|
UTSW |
3 |
151,197,971 (GRCm39) |
missense |
probably benign |
0.01 |
R6106:Adgrl4
|
UTSW |
3 |
151,246,622 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6343:Adgrl4
|
UTSW |
3 |
151,223,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R6419:Adgrl4
|
UTSW |
3 |
151,144,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6468:Adgrl4
|
UTSW |
3 |
151,198,012 (GRCm39) |
missense |
probably benign |
|
R6636:Adgrl4
|
UTSW |
3 |
151,223,410 (GRCm39) |
nonsense |
probably null |
|
R6637:Adgrl4
|
UTSW |
3 |
151,223,410 (GRCm39) |
nonsense |
probably null |
|
R6687:Adgrl4
|
UTSW |
3 |
151,248,392 (GRCm39) |
missense |
probably benign |
0.00 |
R6856:Adgrl4
|
UTSW |
3 |
151,205,755 (GRCm39) |
missense |
probably benign |
0.00 |
R6887:Adgrl4
|
UTSW |
3 |
151,248,370 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7041:Adgrl4
|
UTSW |
3 |
151,144,959 (GRCm39) |
missense |
probably benign |
0.00 |
R7527:Adgrl4
|
UTSW |
3 |
151,144,887 (GRCm39) |
missense |
probably benign |
0.08 |
R7597:Adgrl4
|
UTSW |
3 |
151,248,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7751:Adgrl4
|
UTSW |
3 |
151,197,946 (GRCm39) |
missense |
probably damaging |
0.99 |
R8696:Adgrl4
|
UTSW |
3 |
151,248,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R8698:Adgrl4
|
UTSW |
3 |
151,203,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R8795:Adgrl4
|
UTSW |
3 |
151,216,416 (GRCm39) |
missense |
probably benign |
0.03 |
R9226:Adgrl4
|
UTSW |
3 |
151,198,064 (GRCm39) |
critical splice donor site |
probably null |
|
R9655:Adgrl4
|
UTSW |
3 |
151,248,450 (GRCm39) |
missense |
probably damaging |
0.96 |
R9755:Adgrl4
|
UTSW |
3 |
151,216,418 (GRCm39) |
missense |
probably benign |
0.01 |
R9767:Adgrl4
|
UTSW |
3 |
151,207,394 (GRCm39) |
missense |
probably benign |
0.16 |
R9784:Adgrl4
|
UTSW |
3 |
151,214,948 (GRCm39) |
missense |
probably damaging |
1.00 |
X0053:Adgrl4
|
UTSW |
3 |
151,203,470 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Adgrl4
|
UTSW |
3 |
151,205,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGCCACATGATTTATATCAG -3'
(R):5'- CATGTGACATGTTCGGTTAGAAAAC -3'
Sequencing Primer
(F):5'- ACAGGTTTTTCTCACCTAAATGTGC -3'
(R):5'- TGACATGTTCGGTTAGAAAACACAAG -3'
|
Posted On |
2021-01-18 |