Incidental Mutation 'R2697:Adgrl4'
| ID |
251149 |
| 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 |
040435-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2697 (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 C
at 151216260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 481
(Q481P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
|
| AlphaFold |
Q923X1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046977
AA Change: Q481P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041939
Gene: ENSMUSG00000039167
AA Change: Q481P
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,619 (GRCm39) |
S46G |
unknown |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam7 |
A |
T |
14: 68,752,232 (GRCm39) |
C417* |
probably null |
Het |
| Adra2c |
C |
A |
5: 35,438,042 (GRCm39) |
N271K |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,580,097 (GRCm39) |
K2035R |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,625,305 (GRCm39) |
T182A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,308,746 (GRCm39) |
Y805H |
probably damaging |
Het |
| BC024139 |
TCCACCACCACCACCACCAC |
TCCACCACCACCACCAC |
15: 76,004,393 (GRCm39) |
|
probably benign |
Het |
| Cabp7 |
C |
T |
11: 4,688,837 (GRCm39) |
R211H |
probably damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,888 (GRCm39) |
N112S |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,873,197 (GRCm39) |
D45N |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,483,529 (GRCm39) |
Y872C |
probably damaging |
Het |
| Cradd |
A |
G |
10: 95,011,807 (GRCm39) |
L111P |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,079,815 (GRCm39) |
L155P |
probably damaging |
Het |
| Fgd2 |
A |
T |
17: 29,595,895 (GRCm39) |
T518S |
probably damaging |
Het |
| Gpam |
C |
T |
19: 55,071,641 (GRCm39) |
E367K |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,243,126 (GRCm39) |
N1826I |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,549,656 (GRCm39) |
E357G |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,755,364 (GRCm39) |
D465V |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,572,466 (GRCm39) |
V407E |
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,174,157 (GRCm39) |
V221A |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,406,688 (GRCm39) |
S144P |
possibly damaging |
Het |
| Mtfmt |
T |
C |
9: 65,359,303 (GRCm39) |
V326A |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,902,517 (GRCm39) |
D71G |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,493,274 (GRCm39) |
Y705C |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,212,859 (GRCm39) |
W311R |
probably damaging |
Het |
| Or11g27 |
C |
T |
14: 50,771,238 (GRCm39) |
A123V |
probably damaging |
Het |
| Or2a57 |
A |
T |
6: 43,213,060 (GRCm39) |
I173F |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,900 (GRCm39) |
F61S |
probably damaging |
Het |
| Or6c65 |
G |
A |
10: 129,603,793 (GRCm39) |
V143I |
probably benign |
Het |
| Osbp2 |
A |
T |
11: 3,813,407 (GRCm39) |
L154Q |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,104,377 (GRCm39) |
T633A |
probably damaging |
Het |
| Polq |
T |
G |
16: 36,862,515 (GRCm39) |
L616R |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,429 (GRCm39) |
L197S |
possibly damaging |
Het |
| Rap1gds1 |
C |
T |
3: 138,689,482 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rfng |
C |
A |
11: 120,674,865 (GRCm39) |
|
probably benign |
Het |
| Rps6ka2 |
T |
G |
17: 7,567,721 (GRCm39) |
L728R |
probably benign |
Het |
| Slc41a3 |
C |
A |
6: 90,619,302 (GRCm39) |
N360K |
possibly damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,726,397 (GRCm39) |
N239S |
probably damaging |
Het |
| Tacr1 |
T |
A |
6: 82,469,578 (GRCm39) |
I154N |
probably damaging |
Het |
| Tacstd2 |
T |
A |
6: 67,512,203 (GRCm39) |
H163L |
probably benign |
Het |
| Tent5a |
T |
C |
9: 85,206,793 (GRCm39) |
D335G |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,590,052 (GRCm39) |
S1382G |
probably benign |
Het |
| Tmem43 |
A |
G |
6: 91,456,911 (GRCm39) |
E164G |
possibly damaging |
Het |
| U2af2 |
G |
A |
7: 5,070,545 (GRCm39) |
R78H |
probably benign |
Het |
| Yipf7 |
T |
A |
5: 69,698,483 (GRCm39) |
D8V |
possibly damaging |
Het |
| Zfp58 |
G |
A |
13: 67,639,124 (GRCm39) |
H456Y |
probably damaging |
Het |
| Zfp799 |
G |
A |
17: 33,039,214 (GRCm39) |
R351* |
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,553,016 (GRCm39) |
D715G |
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 |
|
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'- TAGCCTGCCACATGATTTATATCAG -3'
(R):5'- CCAGGCTGCATACCTTATTCG -3'
Sequencing Primer
(F):5'- ACAGGTTTTTCTCACCTAAATGTGC -3'
(R):5'- GGCTGCATACCTTATTCGTATTTATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation