Incidental Mutation 'R3835:Adgrl4'
ID |
275578 |
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 |
040890-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3835 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
151143519-151250718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 151216254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 479
(I479T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
|
AlphaFold |
Q923X1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046977
AA Change: I479T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041939 Gene: ENSMUSG00000039167 AA Change: I479T
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
|
Meta Mutation Damage Score |
0.8192 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (43/44) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
Anapc7 |
A |
G |
5: 122,581,940 (GRCm39) |
T528A |
possibly damaging |
Het |
Ap5b1 |
A |
G |
19: 5,618,918 (GRCm39) |
T113A |
possibly damaging |
Het |
Apaf1 |
G |
A |
10: 90,895,449 (GRCm39) |
R439C |
probably benign |
Het |
Apoa5 |
A |
T |
9: 46,181,878 (GRCm39) |
H318L |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,169,911 (GRCm39) |
R1545G |
probably benign |
Het |
Btnl9 |
T |
G |
11: 49,071,512 (GRCm39) |
T104P |
probably damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,533,449 (GRCm39) |
K107R |
probably benign |
Het |
Dthd1 |
A |
T |
5: 63,007,128 (GRCm39) |
R610W |
probably damaging |
Het |
Eno1 |
T |
C |
4: 150,331,119 (GRCm39) |
S186P |
probably benign |
Het |
Gipc2 |
C |
A |
3: 151,833,823 (GRCm39) |
V153F |
probably damaging |
Het |
Gpt |
A |
G |
15: 76,582,783 (GRCm39) |
Y295C |
probably damaging |
Het |
Kcnh5 |
T |
A |
12: 74,945,044 (GRCm39) |
Q735L |
probably benign |
Het |
Lrrc10 |
A |
G |
10: 116,881,691 (GRCm39) |
N122D |
possibly damaging |
Het |
Lrrc37 |
C |
A |
11: 103,510,836 (GRCm39) |
L377F |
unknown |
Het |
Meis2 |
T |
C |
2: 115,752,228 (GRCm39) |
H301R |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
Nalcn |
A |
T |
14: 123,530,834 (GRCm39) |
|
probably benign |
Het |
Nmt2 |
T |
C |
2: 3,315,723 (GRCm39) |
|
probably benign |
Het |
Nnt |
C |
T |
13: 119,509,031 (GRCm39) |
G403R |
probably damaging |
Het |
Or4a79 |
T |
G |
2: 89,551,799 (GRCm39) |
I219L |
possibly damaging |
Het |
Or4d6 |
T |
A |
19: 12,086,764 (GRCm39) |
I49F |
possibly damaging |
Het |
Or5b109 |
A |
T |
19: 13,212,103 (GRCm39) |
D163V |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,893,631 (GRCm39) |
E468G |
probably benign |
Het |
Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,158,121 (GRCm39) |
D56G |
possibly damaging |
Het |
Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
Qtrt2 |
A |
G |
16: 43,701,435 (GRCm39) |
S42P |
probably damaging |
Het |
Rab9b |
C |
T |
X: 135,762,259 (GRCm39) |
R47Q |
possibly damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,384,710 (GRCm39) |
E606G |
probably damaging |
Het |
Setx |
C |
T |
2: 29,035,072 (GRCm39) |
S519L |
possibly damaging |
Het |
Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
Snrk |
T |
C |
9: 121,966,069 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,657,109 (GRCm39) |
D422G |
probably damaging |
Het |
Stag1 |
C |
T |
9: 100,620,035 (GRCm39) |
T46I |
probably damaging |
Het |
Tagln |
T |
C |
9: 45,843,008 (GRCm39) |
I18V |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,625,292 (GRCm39) |
T1553A |
probably benign |
Het |
Tbx18 |
C |
A |
9: 87,611,689 (GRCm39) |
A114S |
probably benign |
Het |
Ttc16 |
T |
C |
2: 32,659,322 (GRCm39) |
D259G |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,212,214 (GRCm39) |
D76G |
probably damaging |
Het |
Vmn2r24 |
G |
T |
6: 123,764,412 (GRCm39) |
D430Y |
probably benign |
Het |
Xlr3a |
T |
C |
X: 72,138,644 (GRCm39) |
E5G |
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 |
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'- GCCTGCCACATGATTTATATCAG -3'
(R):5'- GCCAGGCTGCATACCTTATTCG -3'
Sequencing Primer
(F):5'- ACAGGTTTTTCTCACCTAAATGTGC -3'
(R):5'- GGCTGCATACCTTATTCGTATTTATG -3'
|
Posted On |
2015-04-06 |