Incidental Mutation 'R4640:Adgrl4'
ID |
386313 |
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 |
041902-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4640 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
151143519-151250718 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 151205947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
[ENSMUST00000196970]
|
AlphaFold |
Q923X1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046977
|
SMART Domains |
Protein: ENSMUSP00000041939 Gene: ENSMUSG00000039167
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 benign
Transcript: ENSMUST00000196970
|
SMART Domains |
Protein: ENSMUSP00000143744 Gene: ENSMUSG00000039167
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
93% (39/42) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
Atp11a |
A |
G |
8: 12,878,434 (GRCm39) |
|
probably benign |
Het |
Cct4 |
T |
A |
11: 22,952,297 (GRCm39) |
S463T |
probably benign |
Het |
Cfap251 |
G |
T |
5: 123,440,495 (GRCm39) |
V1094L |
probably benign |
Het |
Cnmd |
T |
C |
14: 79,894,093 (GRCm39) |
N98S |
probably damaging |
Het |
Copz2 |
A |
T |
11: 96,747,533 (GRCm39) |
Q172L |
possibly damaging |
Het |
Ctdp1 |
C |
A |
18: 80,494,369 (GRCm39) |
|
probably null |
Het |
Cyfip1 |
C |
T |
7: 55,563,199 (GRCm39) |
T865I |
possibly damaging |
Het |
Cyp2c37 |
A |
T |
19: 40,000,276 (GRCm39) |
D466V |
possibly damaging |
Het |
Dytn |
A |
G |
1: 63,682,507 (GRCm39) |
L380P |
possibly damaging |
Het |
Fam124b |
G |
A |
1: 80,191,243 (GRCm39) |
R47C |
probably damaging |
Het |
Foxe3 |
G |
A |
4: 114,782,972 (GRCm39) |
A80V |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,734 (GRCm39) |
|
noncoding transcript |
Het |
Kera |
A |
T |
10: 97,448,749 (GRCm39) |
Y323F |
probably damaging |
Het |
Lipf |
A |
T |
19: 33,946,197 (GRCm39) |
Y205F |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,698,237 (GRCm39) |
E380G |
probably benign |
Het |
Mcm2 |
A |
T |
6: 88,864,786 (GRCm39) |
H563Q |
possibly damaging |
Het |
Mindy3 |
T |
C |
2: 12,352,974 (GRCm39) |
E409G |
probably benign |
Het |
Mns1 |
A |
G |
9: 72,346,564 (GRCm39) |
K16E |
probably benign |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nlrp4g |
T |
C |
9: 124,349,153 (GRCm38) |
|
noncoding transcript |
Het |
Nrxn1 |
A |
G |
17: 90,868,196 (GRCm39) |
S1105P |
probably damaging |
Het |
Odf2l |
G |
A |
3: 144,834,706 (GRCm39) |
R186H |
probably damaging |
Het |
Or13g1 |
T |
A |
7: 85,956,274 (GRCm39) |
T16S |
probably benign |
Het |
Or2d3c |
T |
C |
7: 106,525,800 (GRCm39) |
I289V |
possibly damaging |
Het |
Phxr2 |
T |
C |
10: 98,961,931 (GRCm39) |
|
probably benign |
Het |
Plcxd3 |
T |
C |
15: 4,546,725 (GRCm39) |
F243S |
probably damaging |
Het |
Ppp1r27 |
T |
C |
11: 120,441,553 (GRCm39) |
N76D |
possibly damaging |
Het |
Ptprz1 |
A |
G |
6: 22,972,797 (GRCm39) |
T236A |
probably damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
R3hdm1 |
T |
C |
1: 128,102,975 (GRCm39) |
|
probably benign |
Het |
Sall2 |
T |
A |
14: 52,552,616 (GRCm39) |
Q193L |
probably damaging |
Het |
Srpk1 |
T |
C |
17: 28,827,698 (GRCm39) |
S39G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,564,513 (GRCm39) |
V883A |
probably damaging |
Het |
Tmem104 |
T |
A |
11: 115,134,550 (GRCm39) |
V362E |
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 |
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 |
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'- TTCTGAGGCTGAGCTCTCTC -3'
(R):5'- CAGGCCTTACCCAAGTCAGTAG -3'
Sequencing Primer
(F):5'- GAGCTCTCTCTGATGGATATAGTCAC -3'
(R):5'- GGCCTTACCCAAGTCAGTAGAATTC -3'
|
Posted On |
2016-05-11 |