Incidental Mutation 'R6468:Adgrl4'
| ID |
516418 |
| 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 |
044601-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
151143519-151250718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151198012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 91
(T91A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
[ENSMUST00000196970]
|
| AlphaFold |
Q923X1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046977
AA Change: T91A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041939
Gene: ENSMUSG00000039167
AA Change: T91A
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (57/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,177,747 (GRCm39) |
V305A |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,865,595 (GRCm39) |
I860V |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,482,866 (GRCm39) |
S132P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,062,592 (GRCm39) |
I3368T |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,946,266 (GRCm39) |
V33E |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,330,548 (GRCm39) |
V989D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,712,989 (GRCm39) |
D1807G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,854,987 (GRCm39) |
M807T |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,672,589 (GRCm39) |
D320G |
probably damaging |
Het |
| Cryzl1 |
A |
C |
16: 91,489,413 (GRCm39) |
|
probably null |
Het |
| Dcbld2 |
A |
T |
16: 58,253,736 (GRCm39) |
K158* |
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,069,575 (GRCm39) |
N437S |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,855,464 (GRCm39) |
S1496L |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,864,274 (GRCm39) |
I931R |
probably benign |
Het |
| Eif2ak4 |
C |
A |
2: 118,266,722 (GRCm39) |
L714I |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,125,509 (GRCm39) |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,409,413 (GRCm39) |
K238* |
probably null |
Het |
| Fam83f |
A |
G |
15: 80,576,312 (GRCm39) |
Y321C |
possibly damaging |
Het |
| Fanci |
A |
G |
7: 79,067,687 (GRCm39) |
I42V |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,121,728 (GRCm39) |
R1299S |
unknown |
Het |
| Gak |
G |
T |
5: 108,771,202 (GRCm39) |
C102* |
probably null |
Het |
| Gcnt7 |
A |
G |
2: 172,295,993 (GRCm39) |
L277P |
probably damaging |
Het |
| Gucy2d |
A |
G |
7: 98,099,168 (GRCm39) |
E329G |
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,040,755 (GRCm39) |
I167V |
probably damaging |
Het |
| Hdlbp |
T |
A |
1: 93,345,389 (GRCm39) |
D662V |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,155,883 (GRCm39) |
V674E |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,290,320 (GRCm39) |
Q442R |
possibly damaging |
Het |
| Lce1j |
A |
T |
3: 92,696,729 (GRCm39) |
C16* |
probably null |
Het |
| Lrat |
A |
T |
3: 82,810,799 (GRCm39) |
M74K |
probably damaging |
Het |
| Lrig2 |
G |
A |
3: 104,374,509 (GRCm39) |
R191C |
probably damaging |
Het |
| Lrrc37a |
A |
C |
11: 103,351,666 (GRCm39) |
F2558L |
unknown |
Het |
| Mctp1 |
T |
A |
13: 76,879,930 (GRCm39) |
|
probably null |
Het |
| Mecom |
T |
A |
3: 30,194,535 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
A |
G |
6: 138,118,585 (GRCm39) |
|
probably null |
Het |
| Ms4a15 |
T |
G |
19: 10,970,534 (GRCm39) |
E3A |
probably benign |
Het |
| Myo1d |
T |
C |
11: 80,448,300 (GRCm39) |
I942V |
probably benign |
Het |
| Neu2 |
A |
G |
1: 87,524,600 (GRCm39) |
Y195C |
probably damaging |
Het |
| Nipa1 |
A |
T |
7: 55,669,252 (GRCm39) |
V22E |
probably benign |
Het |
| Or4n4b |
A |
T |
14: 50,535,924 (GRCm39) |
L281I |
probably benign |
Het |
| Or6c35 |
T |
C |
10: 129,169,580 (GRCm39) |
S277P |
possibly damaging |
Het |
| Or8k25 |
T |
A |
2: 86,244,381 (GRCm39) |
N5I |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,562,389 (GRCm39) |
T1223A |
possibly damaging |
Het |
| Ppl |
T |
C |
16: 4,910,305 (GRCm39) |
D811G |
probably damaging |
Het |
| Prep |
T |
A |
10: 44,991,203 (GRCm39) |
Y290N |
probably damaging |
Het |
| Ptk6 |
A |
T |
2: 180,840,895 (GRCm39) |
H215Q |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,582,971 (GRCm39) |
I474T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,343,513 (GRCm39) |
V3626E |
possibly damaging |
Het |
| Scn4a |
C |
T |
11: 106,236,502 (GRCm39) |
V253M |
probably damaging |
Het |
| Snta1 |
T |
A |
2: 154,219,069 (GRCm39) |
D422V |
probably damaging |
Het |
| Spata31h1 |
G |
T |
10: 82,131,150 (GRCm39) |
T620K |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,203,086 (GRCm39) |
L160P |
probably benign |
Het |
| Tapbp |
T |
C |
17: 34,145,072 (GRCm39) |
F323S |
probably damaging |
Het |
| Uggt1 |
C |
T |
1: 36,212,531 (GRCm39) |
R937Q |
probably benign |
Het |
| Vash2 |
G |
A |
1: 190,710,484 (GRCm39) |
P57L |
probably damaging |
Het |
| Vmn1r4 |
G |
A |
6: 56,933,852 (GRCm39) |
V119I |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,599 (GRCm39) |
D31G |
probably benign |
Het |
| Zfp114 |
T |
C |
7: 23,877,206 (GRCm39) |
V16A |
possibly 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 |
|
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 |
|
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'- TGCTCTGAAATCACTAACCACATG -3'
(R):5'- ATGATGTCATATGCTCTCATCCTG -3'
Sequencing Primer
(F):5'- GTAATATTGTTATGAGGAAGCAAACG -3'
(R):5'- ATGTCATATGCTCTCATCCTGATTCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation