Incidental Mutation 'R2403:Adgrl1'
| ID |
248821 |
| 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 |
040369-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2403 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84626734-84668583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84657870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 492
(M492K)
|
| 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: M497K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: M497K
| 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: ENSMUST00000131717
AA Change: M321K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: M321K
| 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: M492K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: M492K
| 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 |
noncoding transcript
Transcript: ENSMUST00000139575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141158
AA Change: M492K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: M492K
| 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: M497K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: M497K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150674
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,964,592 (GRCm39) |
E925G |
probably damaging |
Het |
| Abca9 |
T |
G |
11: 110,006,280 (GRCm39) |
Q1275P |
probably benign |
Het |
| Ankrd50 |
T |
A |
3: 38,537,234 (GRCm39) |
K3* |
probably null |
Het |
| Arl5b |
T |
C |
2: 15,079,848 (GRCm39) |
S140P |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,211,840 (GRCm39) |
|
probably benign |
Het |
| Ascc1 |
T |
C |
10: 59,840,663 (GRCm39) |
I8T |
probably benign |
Het |
| Bche |
A |
G |
3: 73,608,805 (GRCm39) |
V207A |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,627,259 (GRCm39) |
L1080P |
probably benign |
Het |
| Ceacam3 |
C |
A |
7: 16,895,779 (GRCm39) |
A583D |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,373,299 (GRCm39) |
A1193V |
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,290,046 (GRCm39) |
I827T |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,175,641 (GRCm39) |
D69G |
possibly damaging |
Het |
| Cts3 |
A |
G |
13: 61,712,806 (GRCm39) |
W305R |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,815,084 (GRCm39) |
I578T |
possibly damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,949,883 (GRCm39) |
V559M |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,016,549 (GRCm39) |
V70A |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,752,434 (GRCm39) |
V993A |
probably benign |
Het |
| Etl4 |
T |
A |
2: 20,812,117 (GRCm39) |
L1768* |
probably null |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fat3 |
T |
G |
9: 15,881,167 (GRCm39) |
D3235A |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,877,823 (GRCm39) |
F162I |
probably damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,852,897 (GRCm39) |
W200R |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,811,064 (GRCm39) |
M2461T |
possibly damaging |
Het |
| Fut1 |
A |
G |
7: 45,268,643 (GRCm39) |
Y144C |
probably benign |
Het |
| Gprin3 |
G |
A |
6: 59,331,134 (GRCm39) |
A391V |
probably benign |
Het |
| H2-Q4 |
A |
G |
17: 35,598,973 (GRCm39) |
E81G |
probably damaging |
Het |
| Hacd3 |
A |
G |
9: 64,908,311 (GRCm39) |
S162P |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,114,150 (GRCm39) |
H918Q |
probably benign |
Het |
| Lrp5 |
C |
A |
19: 3,647,430 (GRCm39) |
D1271Y |
probably damaging |
Het |
| Lsm8 |
C |
T |
6: 18,849,643 (GRCm39) |
T17I |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,958,145 (GRCm39) |
D141V |
probably damaging |
Het |
| Nckap5 |
G |
A |
1: 125,955,146 (GRCm39) |
H405Y |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or12k8 |
T |
C |
2: 36,974,986 (GRCm39) |
Y258C |
probably benign |
Het |
| Ostf1 |
T |
C |
19: 18,562,026 (GRCm39) |
K190R |
probably benign |
Het |
| Pnldc1 |
A |
T |
17: 13,118,777 (GRCm39) |
V197E |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,016,270 (GRCm39) |
S531P |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,516,973 (GRCm39) |
E3318K |
probably damaging |
Het |
| Scamp2 |
T |
C |
9: 57,484,995 (GRCm39) |
V67A |
possibly damaging |
Het |
| Serpina3g |
C |
A |
12: 104,207,421 (GRCm39) |
L195M |
probably damaging |
Het |
| Siglec1 |
G |
T |
2: 130,916,395 (GRCm39) |
T1185N |
possibly damaging |
Het |
| Sycp2 |
G |
A |
2: 178,045,528 (GRCm39) |
Q31* |
probably null |
Het |
| Tmprss15 |
T |
G |
16: 78,854,578 (GRCm39) |
T277P |
probably damaging |
Het |
| Trim34b |
C |
T |
7: 103,978,876 (GRCm39) |
S41L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,557,705 (GRCm39) |
T21507A |
possibly damaging |
Het |
| Umad1 |
T |
C |
6: 8,427,161 (GRCm39) |
V138A |
possibly damaging |
Het |
| Zfp523 |
A |
G |
17: 28,414,183 (GRCm39) |
I72M |
probably damaging |
Het |
| Zfp655 |
C |
T |
5: 145,181,356 (GRCm39) |
R405C |
probably benign |
Het |
| Zfp715 |
G |
A |
7: 42,948,692 (GRCm39) |
R423C |
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 |
|
|
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 |
|
R7547:Adgrl1
|
UTSW |
8 |
84,665,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CCCTGTGTTTGGGCACATTG -3'
(R):5'- CCCCTAGAACACCTGAGTTG -3'
Sequencing Primer
(F):5'- CCTTAGGCATGGGTGTGACC -3'
(R):5'- CCTAGAACACCTGAGTTGTTTATCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation