Incidental Mutation 'R2180:Adgrl4'
ID |
237105 |
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 |
040182-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2180 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
151143519-151250718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 151205779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 164
(I164F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
[ENSMUST00000196970]
|
AlphaFold |
Q923X1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046977
AA Change: I214F
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000041939 Gene: ENSMUSG00000039167 AA Change: I214F
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129283
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141038
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155652
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196970
AA Change: I164F
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143744 Gene: ENSMUSG00000039167 AA Change: I164F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EGF
|
21 |
57 |
4.5e-2 |
SMART |
EGF_CA
|
58 |
107 |
2.5e-11 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
T |
C |
16: 85,684,812 (GRCm39) |
D377G |
probably damaging |
Het |
Anxa9 |
T |
C |
3: 95,213,735 (GRCm39) |
|
probably null |
Het |
Aox4 |
A |
T |
1: 58,252,226 (GRCm39) |
T34S |
probably benign |
Het |
Asic1 |
G |
T |
15: 99,569,846 (GRCm39) |
V56F |
probably benign |
Het |
Atpaf1 |
T |
C |
4: 115,645,557 (GRCm39) |
M1T |
probably null |
Het |
Axin1 |
A |
G |
17: 26,362,309 (GRCm39) |
T218A |
probably benign |
Het |
Bdp1 |
ATTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTC |
13: 100,197,913 (GRCm39) |
|
probably benign |
Het |
Birc6 |
T |
C |
17: 74,919,146 (GRCm39) |
I1988T |
probably benign |
Het |
Btbd7 |
A |
T |
12: 102,752,156 (GRCm39) |
D869E |
probably damaging |
Het |
Caln1 |
T |
C |
5: 130,868,249 (GRCm39) |
*220Q |
probably null |
Het |
Ccdc150 |
G |
A |
1: 54,311,706 (GRCm39) |
|
probably null |
Het |
Ccnt1 |
A |
T |
15: 98,441,481 (GRCm39) |
S596T |
possibly damaging |
Het |
Cd44 |
C |
T |
2: 102,658,955 (GRCm39) |
G640E |
possibly damaging |
Het |
Cep192 |
A |
G |
18: 67,957,813 (GRCm39) |
E582G |
possibly damaging |
Het |
Clcnkb |
G |
T |
4: 141,136,819 (GRCm39) |
|
probably null |
Het |
Dhx29 |
T |
C |
13: 113,099,406 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
C |
17: 31,059,621 (GRCm39) |
F4407S |
probably benign |
Het |
Enah |
A |
T |
1: 181,746,024 (GRCm39) |
M419K |
probably damaging |
Het |
Fancd2 |
A |
T |
6: 113,551,598 (GRCm39) |
T1055S |
probably benign |
Het |
Gigyf2 |
G |
A |
1: 87,344,642 (GRCm39) |
G525D |
probably damaging |
Het |
Gm5800 |
T |
A |
14: 51,953,451 (GRCm39) |
K55* |
probably null |
Het |
Gpr149 |
A |
G |
3: 62,511,489 (GRCm39) |
L170P |
probably damaging |
Het |
Grik4 |
A |
T |
9: 42,453,301 (GRCm39) |
Y695N |
probably benign |
Het |
Gsg1 |
A |
T |
6: 135,217,143 (GRCm39) |
V228D |
probably damaging |
Het |
Helb |
G |
A |
10: 119,941,353 (GRCm39) |
T445M |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,875,525 (GRCm39) |
D1656E |
probably damaging |
Het |
Hyou1 |
A |
T |
9: 44,299,316 (GRCm39) |
K669M |
probably benign |
Het |
Itga2 |
T |
C |
13: 114,985,917 (GRCm39) |
N953D |
possibly damaging |
Het |
Ldhd |
T |
C |
8: 112,356,018 (GRCm39) |
I122V |
probably benign |
Het |
Lrrtm1 |
A |
G |
6: 77,221,329 (GRCm39) |
D262G |
probably damaging |
Het |
Mapkapk5 |
T |
C |
5: 121,673,927 (GRCm39) |
|
probably null |
Het |
Msantd5l |
C |
A |
11: 51,145,437 (GRCm39) |
W50L |
probably damaging |
Het |
Niban1 |
A |
T |
1: 151,593,829 (GRCm39) |
H838L |
probably benign |
Het |
Numa1 |
T |
C |
7: 101,649,197 (GRCm39) |
I976T |
probably benign |
Het |
Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
Or2a12 |
C |
T |
6: 42,904,459 (GRCm39) |
T98I |
probably benign |
Het |
Or4f14b |
A |
G |
2: 111,775,348 (GRCm39) |
V151A |
probably benign |
Het |
Or52e4 |
T |
C |
7: 104,706,092 (GRCm39) |
I213T |
probably benign |
Het |
Patj |
G |
A |
4: 98,411,739 (GRCm39) |
|
probably null |
Het |
Pfas |
T |
C |
11: 68,883,013 (GRCm39) |
D757G |
possibly damaging |
Het |
Pom121l2 |
A |
G |
13: 22,166,145 (GRCm39) |
N139D |
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 101,004,214 (GRCm39) |
Y994* |
probably null |
Het |
Ppp6c |
T |
C |
2: 39,087,525 (GRCm39) |
D227G |
probably benign |
Het |
Ptpn13 |
T |
G |
5: 103,717,424 (GRCm39) |
H1855Q |
probably damaging |
Het |
Ptprh |
T |
A |
7: 4,604,867 (GRCm39) |
Q59L |
probably benign |
Het |
Rap1gap2 |
T |
C |
11: 74,283,972 (GRCm39) |
K669E |
probably benign |
Het |
Rbl2 |
T |
C |
8: 91,816,683 (GRCm39) |
S348P |
possibly damaging |
Het |
Rptor |
T |
A |
11: 119,615,970 (GRCm39) |
N161K |
probably damaging |
Het |
Satb1 |
C |
T |
17: 52,110,524 (GRCm39) |
A192T |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,345,117 (GRCm39) |
V1083A |
probably benign |
Het |
Sec14l2 |
C |
T |
11: 4,058,964 (GRCm39) |
A194T |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,862,583 (GRCm39) |
N53S |
probably benign |
Het |
Sin3b |
T |
A |
8: 73,479,923 (GRCm39) |
Y876* |
probably null |
Het |
Smchd1 |
C |
A |
17: 71,770,794 (GRCm39) |
M129I |
probably benign |
Het |
Spmip6 |
T |
A |
4: 41,507,170 (GRCm39) |
M209L |
probably benign |
Het |
Tmc1 |
T |
C |
19: 20,801,448 (GRCm39) |
Y484C |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,656,801 (GRCm39) |
S135P |
probably damaging |
Het |
Zfp266 |
A |
T |
9: 20,410,975 (GRCm39) |
C401S |
probably damaging |
Het |
Zfp738 |
G |
A |
13: 67,819,313 (GRCm39) |
T226I |
probably damaging |
Het |
Zfp871 |
G |
A |
17: 32,994,275 (GRCm39) |
T300M |
probably damaging |
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 |
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 |
R8556:Adgrl4
|
UTSW |
3 |
151,216,302 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- ACTTCCCGACCACTTAAATCTTATG -3'
(R):5'- TTTGTCGGTAACTGGTCCCAC -3'
Sequencing Primer
(F):5'- GTGTAAAATCCTCCCACAGAAATGTG -3'
(R):5'- GGTAACTGGTCCCACATTTTATG -3'
|
Posted On |
2014-10-02 |