Incidental Mutation 'R7547:Adgrl1'
| ID |
584260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrl1
|
| Ensembl Gene |
ENSMUSG00000013033 |
| Gene Name |
adhesion G protein-coupled receptor L1 |
| Synonyms |
Lec2, 2900070I05Rik, lectomedin-2, Lphn1 |
| MMRRC Submission |
045618-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7547 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84626734-84668583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84665513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1400
(A1400V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045393]
[ENSMUST00000098595]
[ENSMUST00000124355]
[ENSMUST00000131717]
[ENSMUST00000132500]
[ENSMUST00000141158]
[ENSMUST00000152978]
|
| AlphaFold |
Q80TR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045393
AA Change: A1405V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: A1405V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
48 |
128 |
6.6e-23 |
PFAM |
|
OLF
|
142 |
398 |
8.5e-138 |
SMART |
|
low complexity region
|
405 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
470 |
N/A |
INTRINSIC |
|
HormR
|
476 |
541 |
1.4e-23 |
SMART |
|
low complexity region
|
579 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
758 |
N/A |
INTRINSIC |
|
GPS
|
797 |
849 |
3.5e-27 |
SMART |
|
Pfam:7tm_2
|
856 |
1092 |
5.3e-66 |
PFAM |
|
Pfam:Latrophilin
|
1112 |
1470 |
1.7e-177 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098595
|
| SMART Domains |
Protein: ENSMUSP00000096195
Gene: ENSMUSG00000074219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124355
|
| SMART Domains |
Protein: ENSMUSP00000116064
Gene: ENSMUSG00000013033
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
48 |
128 |
1.1e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131018
|
| SMART Domains |
Protein: ENSMUSP00000117720
Gene: ENSMUSG00000013033
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Latrophilin
|
1 |
213 |
9.2e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131717
AA Change: A1229V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: A1229V
| Domain | Start | End | E-Value | Type |
|---|
|
OLF
|
1 |
222 |
4.51e-103 |
SMART |
|
low complexity region
|
229 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
294 |
N/A |
INTRINSIC |
|
HormR
|
300 |
365 |
2.26e-21 |
SMART |
|
low complexity region
|
403 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
582 |
N/A |
INTRINSIC |
|
GPS
|
621 |
673 |
5.64e-25 |
SMART |
|
Pfam:7tm_2
|
680 |
916 |
7.9e-68 |
PFAM |
|
Pfam:Latrophilin
|
936 |
1295 |
2.7e-181 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132500
AA Change: A1445V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: A1445V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
48 |
128 |
1.6e-25 |
PFAM |
|
OLF
|
137 |
393 |
1.39e-135 |
SMART |
|
low complexity region
|
400 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
465 |
N/A |
INTRINSIC |
|
HormR
|
471 |
536 |
2.26e-21 |
SMART |
|
low complexity region
|
574 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
|
GPS
|
792 |
844 |
5.64e-25 |
SMART |
|
Pfam:7tm_2
|
851 |
1087 |
3.4e-68 |
PFAM |
|
Pfam:Latrophilin
|
1146 |
1511 |
6.4e-193 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141158
AA Change: A1400V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: A1400V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
48 |
128 |
3.4e-25 |
PFAM |
|
OLF
|
137 |
393 |
1.39e-135 |
SMART |
|
low complexity region
|
400 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
465 |
N/A |
INTRINSIC |
|
HormR
|
471 |
536 |
2.26e-21 |
SMART |
|
low complexity region
|
574 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
|
GPS
|
792 |
844 |
5.64e-25 |
SMART |
|
Pfam:7tm_2
|
851 |
1087 |
4.5e-68 |
PFAM |
|
Pfam:Latrophilin
|
1107 |
1466 |
1.1e-180 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152978
AA Change: A1450V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: A1450V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
48 |
128 |
2.1e-25 |
PFAM |
|
OLF
|
142 |
398 |
1.39e-135 |
SMART |
|
low complexity region
|
405 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
470 |
N/A |
INTRINSIC |
|
HormR
|
476 |
541 |
2.26e-21 |
SMART |
|
Pfam:GAIN
|
544 |
773 |
4.1e-59 |
PFAM |
|
GPS
|
797 |
849 |
5.64e-25 |
SMART |
|
Pfam:7tm_2
|
856 |
1092 |
2.3e-69 |
PFAM |
|
Pfam:Latrophilin
|
1112 |
1516 |
7.3e-136 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a targeted null allele at this locus are viable and fertile. Female homozygotes fail adequately to care for their litters. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,109,269 (GRCm39) |
D146E |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,738,852 (GRCm39) |
V2344A |
unknown |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,457 (GRCm39) |
F31I |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,967,521 (GRCm39) |
D182V |
probably damaging |
Het |
| Asb4 |
C |
T |
6: 5,398,350 (GRCm39) |
P105L |
probably damaging |
Het |
| Ate1 |
C |
A |
7: 130,106,539 (GRCm39) |
R274I |
probably benign |
Het |
| Ccdc43 |
A |
G |
11: 102,582,948 (GRCm39) |
V92A |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,654,290 (GRCm39) |
N548I |
possibly damaging |
Het |
| Clpb |
A |
G |
7: 101,313,503 (GRCm39) |
|
probably null |
Het |
| Ctnnal1 |
G |
A |
4: 56,817,032 (GRCm39) |
R597C |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,263,434 (GRCm39) |
K3234R |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,702,996 (GRCm39) |
K151N |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,253,573 (GRCm39) |
I1826K |
possibly damaging |
Het |
| Dnttip1 |
A |
G |
2: 164,609,799 (GRCm39) |
K289E |
probably benign |
Het |
| Eppk1 |
G |
T |
15: 75,991,740 (GRCm39) |
Q1714K |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,816,056 (GRCm39) |
D674G |
possibly damaging |
Het |
| Galnt7 |
A |
T |
8: 58,036,996 (GRCm39) |
V131D |
possibly damaging |
Het |
| Glg1 |
C |
T |
8: 111,914,393 (GRCm39) |
V464M |
possibly damaging |
Het |
| Hlcs |
G |
T |
16: 94,032,031 (GRCm39) |
S444* |
probably null |
Het |
| Larp1 |
G |
T |
11: 57,943,405 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,335,410 (GRCm39) |
Y4386C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,213,138 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,172,637 (GRCm39) |
V1557I |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,847,345 (GRCm39) |
T953A |
probably benign |
Het |
| Or5b105 |
T |
C |
19: 13,080,407 (GRCm39) |
D87G |
not run |
Het |
| Pax3 |
G |
A |
1: 78,099,231 (GRCm39) |
Q319* |
probably null |
Het |
| Ppp2r1b |
T |
A |
9: 50,773,762 (GRCm39) |
S212R |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,896 (GRCm39) |
L98P |
probably damaging |
Het |
| Ptch2 |
T |
G |
4: 116,967,161 (GRCm39) |
L646R |
probably damaging |
Het |
| Rasa2 |
T |
A |
9: 96,493,474 (GRCm39) |
E70V |
probably damaging |
Het |
| Serf2 |
A |
G |
2: 121,281,256 (GRCm39) |
N65S |
possibly damaging |
Het |
| Serpinb6b |
G |
A |
13: 33,158,907 (GRCm39) |
G155D |
probably benign |
Het |
| Serpinb6c |
A |
G |
13: 34,077,875 (GRCm39) |
I165T |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,483,785 (GRCm39) |
V949E |
unknown |
Het |
| Slc11a2 |
A |
G |
15: 100,295,651 (GRCm39) |
I490T |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,803,436 (GRCm39) |
D1126G |
probably benign |
Het |
| Tent4a |
G |
T |
13: 69,681,823 (GRCm39) |
P160Q |
probably benign |
Het |
| Tln1 |
G |
T |
4: 43,545,206 (GRCm39) |
A1003E |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trav21-dv12 |
T |
C |
14: 54,114,072 (GRCm39) |
V64A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,361,402 (GRCm39) |
E620G |
possibly damaging |
Het |
| Usp3 |
T |
C |
9: 66,449,906 (GRCm39) |
N179S |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,784,108 (GRCm39) |
T3889A |
|
Het |
| Vps35 |
C |
T |
8: 85,989,999 (GRCm39) |
V670M |
probably damaging |
Het |
| Zfp626 |
T |
C |
7: 27,517,828 (GRCm39) |
S270P |
possibly damaging |
Het |
| Zfp955a |
C |
T |
17: 33,461,797 (GRCm39) |
V112M |
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,246,806 (GRCm39) |
S165P |
possibly damaging |
Het |
|
| Other mutations in Adgrl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Adgrl1
|
APN |
8 |
84,664,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01413:Adgrl1
|
APN |
8 |
84,656,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02020:Adgrl1
|
APN |
8 |
84,659,577 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02422:Adgrl1
|
APN |
8 |
84,664,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Adgrl1
|
APN |
8 |
84,665,143 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03169:Adgrl1
|
APN |
8 |
84,658,624 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03237:Adgrl1
|
APN |
8 |
84,656,312 (GRCm39) |
splice site |
probably null |
|
|
Swiss_rolls
|
UTSW |
8 |
84,645,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0375:Adgrl1
|
UTSW |
8 |
84,661,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0505:Adgrl1
|
UTSW |
8 |
84,661,279 (GRCm39) |
splice site |
probably benign |
|
|
R0681:Adgrl1
|
UTSW |
8 |
84,661,279 (GRCm39) |
splice site |
probably benign |
|
|
R0964:Adgrl1
|
UTSW |
8 |
84,661,041 (GRCm39) |
splice site |
probably benign |
|
|
R1182:Adgrl1
|
UTSW |
8 |
84,656,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1373:Adgrl1
|
UTSW |
8 |
84,664,392 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1475:Adgrl1
|
UTSW |
8 |
84,664,979 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1610:Adgrl1
|
UTSW |
8 |
84,659,002 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1778:Adgrl1
|
UTSW |
8 |
84,656,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2089:Adgrl1
|
UTSW |
8 |
84,661,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Adgrl1
|
UTSW |
8 |
84,661,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Adgrl1
|
UTSW |
8 |
84,661,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2300:Adgrl1
|
UTSW |
8 |
84,656,746 (GRCm39) |
nonsense |
probably null |
|
|
R2403:Adgrl1
|
UTSW |
8 |
84,657,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2935:Adgrl1
|
UTSW |
8 |
84,661,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Adgrl1
|
UTSW |
8 |
84,649,633 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4191:Adgrl1
|
UTSW |
8 |
84,665,569 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4393:Adgrl1
|
UTSW |
8 |
84,665,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4406:Adgrl1
|
UTSW |
8 |
84,656,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4445:Adgrl1
|
UTSW |
8 |
84,661,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Adgrl1
|
UTSW |
8 |
84,662,202 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4799:Adgrl1
|
UTSW |
8 |
84,662,202 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5214:Adgrl1
|
UTSW |
8 |
84,642,202 (GRCm39) |
splice site |
probably null |
|
|
R5242:Adgrl1
|
UTSW |
8 |
84,657,711 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5409:Adgrl1
|
UTSW |
8 |
84,656,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Adgrl1
|
UTSW |
8 |
84,649,704 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5607:Adgrl1
|
UTSW |
8 |
84,663,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5608:Adgrl1
|
UTSW |
8 |
84,663,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Adgrl1
|
UTSW |
8 |
84,656,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Adgrl1
|
UTSW |
8 |
84,665,230 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5919:Adgrl1
|
UTSW |
8 |
84,659,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Adgrl1
|
UTSW |
8 |
84,645,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6033:Adgrl1
|
UTSW |
8 |
84,645,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6129:Adgrl1
|
UTSW |
8 |
84,645,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6221:Adgrl1
|
UTSW |
8 |
84,664,316 (GRCm39) |
nonsense |
probably null |
|
|
R7142:Adgrl1
|
UTSW |
8 |
84,663,829 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7181:Adgrl1
|
UTSW |
8 |
84,652,878 (GRCm39) |
splice site |
probably null |
|
|
R7238:Adgrl1
|
UTSW |
8 |
84,665,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7709:Adgrl1
|
UTSW |
8 |
84,665,617 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7741:Adgrl1
|
UTSW |
8 |
84,656,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Adgrl1
|
UTSW |
8 |
84,662,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7866:Adgrl1
|
UTSW |
8 |
84,664,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8146:Adgrl1
|
UTSW |
8 |
84,657,618 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8314:Adgrl1
|
UTSW |
8 |
84,665,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Adgrl1
|
UTSW |
8 |
84,665,458 (GRCm39) |
missense |
|
|
|
R8857:Adgrl1
|
UTSW |
8 |
84,657,657 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8979:Adgrl1
|
UTSW |
8 |
84,665,015 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9204:Adgrl1
|
UTSW |
8 |
84,660,519 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9226:Adgrl1
|
UTSW |
8 |
84,656,426 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9302:Adgrl1
|
UTSW |
8 |
84,656,426 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9695:Adgrl1
|
UTSW |
8 |
84,665,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9785:Adgrl1
|
UTSW |
8 |
84,665,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Adgrl1
|
UTSW |
8 |
84,661,401 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCTCTACAAGGCCCTGGAG -3'
(R):5'- TGACCAACTGCATTTGCCC -3'
Sequencing Primer
(F):5'- AAGGCCCTGGAGGAGCC -3'
(R):5'- AACTGCATTTGCCCGTCCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation