Incidental Mutation 'R2089:Adgrl1'
ID |
231663 |
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 |
040094-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2089 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
84626734-84668583 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84661093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 862
(I862T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115295
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045393]
[ENSMUST00000098595]
[ENSMUST00000124355]
[ENSMUST00000131717]
[ENSMUST00000132500]
[ENSMUST00000152978]
[ENSMUST00000141158]
|
AlphaFold |
Q80TR1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045393
AA Change: I862T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048422 Gene: ENSMUSG00000013033 AA Change: I862T
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 damaging
Transcript: ENSMUST00000131717
AA Change: I686T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118579 Gene: ENSMUSG00000013033 AA Change: I686T
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 damaging
Transcript: ENSMUST00000132500
AA Change: I857T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119100 Gene: ENSMUSG00000013033 AA Change: I857T
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 damaging
Transcript: ENSMUST00000152978
AA Change: I862T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115295 Gene: ENSMUSG00000013033 AA Change: I862T
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 |
probably damaging
Transcript: ENSMUST00000141158
AA Change: I857T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118452 Gene: ENSMUSG00000013033 AA Change: I857T
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 |
noncoding transcript
Transcript: ENSMUST00000141661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199528
|
Meta Mutation Damage Score |
0.8658 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
96% (51/53) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
G |
C |
2: 19,522,357 (GRCm39) |
N247K |
probably damaging |
Het |
4930402F06Rik |
T |
C |
2: 35,266,079 (GRCm39) |
K197R |
probably benign |
Het |
Agbl1 |
G |
A |
7: 76,239,248 (GRCm39) |
V583M |
probably damaging |
Het |
Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
Atg14 |
A |
T |
14: 47,780,352 (GRCm39) |
I474N |
probably damaging |
Het |
Bicdl1 |
A |
G |
5: 115,862,638 (GRCm39) |
S206P |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,042,405 (GRCm39) |
T2797I |
probably damaging |
Het |
Calhm3 |
T |
A |
19: 47,140,430 (GRCm39) |
D221V |
probably damaging |
Het |
Ccdc93 |
T |
A |
1: 121,411,071 (GRCm39) |
|
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dido1 |
A |
T |
2: 180,303,677 (GRCm39) |
V1409E |
probably benign |
Het |
Dsc2 |
G |
A |
18: 20,166,351 (GRCm39) |
T760I |
possibly damaging |
Het |
Etnk2 |
T |
G |
1: 133,304,791 (GRCm39) |
|
probably null |
Het |
Gbp7 |
A |
T |
3: 142,240,383 (GRCm39) |
I34F |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,251,316 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
A |
G |
6: 25,689,062 (GRCm39) |
S12P |
possibly damaging |
Het |
Grxcr1 |
T |
C |
5: 68,267,755 (GRCm39) |
I168T |
probably damaging |
Het |
Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
Igkv8-30 |
A |
C |
6: 70,094,070 (GRCm39) |
C114G |
probably damaging |
Het |
Lrrc4 |
T |
G |
6: 28,830,586 (GRCm39) |
D343A |
probably benign |
Het |
Mars1 |
A |
G |
10: 127,135,154 (GRCm39) |
S646P |
probably damaging |
Het |
Micu3 |
G |
A |
8: 40,761,413 (GRCm39) |
G108R |
probably benign |
Het |
Mterf1b |
A |
T |
5: 4,247,057 (GRCm39) |
T233S |
possibly damaging |
Het |
Myrf |
A |
T |
19: 10,201,964 (GRCm39) |
V171D |
possibly damaging |
Het |
Nbas |
G |
A |
12: 13,411,046 (GRCm39) |
D897N |
probably benign |
Het |
Nfx1 |
T |
C |
4: 40,977,004 (GRCm39) |
V226A |
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Ntrk2 |
A |
G |
13: 59,007,115 (GRCm39) |
H239R |
possibly damaging |
Het |
Or10g9 |
T |
C |
9: 39,912,500 (GRCm39) |
T8A |
probably benign |
Het |
Pcdhb18 |
T |
C |
18: 37,623,653 (GRCm39) |
S328P |
probably damaging |
Het |
Pigm |
T |
C |
1: 172,205,100 (GRCm39) |
Y279H |
probably damaging |
Het |
Pik3cd |
A |
G |
4: 149,737,156 (GRCm39) |
L880P |
probably damaging |
Het |
Plaat3 |
A |
G |
19: 7,556,474 (GRCm39) |
I92V |
probably damaging |
Het |
Ptger4 |
T |
A |
15: 5,272,326 (GRCm39) |
I98F |
possibly damaging |
Het |
Rasl11a |
T |
A |
5: 146,783,927 (GRCm39) |
I124N |
probably damaging |
Het |
Rest |
A |
G |
5: 77,429,126 (GRCm39) |
K515R |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,785,474 (GRCm39) |
L1746P |
probably damaging |
Het |
Ryr2 |
G |
T |
13: 11,960,863 (GRCm39) |
T25K |
probably benign |
Het |
Serpina3g |
A |
T |
12: 104,205,417 (GRCm39) |
D52V |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,703,881 (GRCm39) |
N998S |
probably benign |
Het |
Sntg1 |
T |
A |
1: 8,665,763 (GRCm39) |
T184S |
probably benign |
Het |
Ssbp1 |
A |
G |
6: 40,453,433 (GRCm39) |
Y73C |
probably null |
Het |
Suclg1 |
A |
G |
6: 73,241,259 (GRCm39) |
K193R |
probably benign |
Het |
Tnrc18 |
A |
C |
5: 142,759,396 (GRCm39) |
S813R |
unknown |
Het |
Tnrc6a |
T |
C |
7: 122,771,343 (GRCm39) |
|
probably null |
Het |
Trap1 |
A |
C |
16: 3,863,903 (GRCm39) |
Y472* |
probably null |
Het |
Trpm8 |
T |
C |
1: 88,271,048 (GRCm39) |
I446T |
probably damaging |
Het |
Tti2 |
T |
C |
8: 31,644,294 (GRCm39) |
L297P |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,190,893 (GRCm39) |
M247V |
probably benign |
Het |
Unc80 |
T |
A |
1: 66,710,874 (GRCm39) |
|
probably benign |
Het |
Zfp174 |
A |
G |
16: 3,672,506 (GRCm39) |
R352G |
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 |
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 |
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'- GTTGGTATCACAAGCCTTCCAGAG -3'
(R):5'- GTATGCCTCACCTCATACTGAG -3'
Sequencing Primer
(F):5'- AAGCCTTCCAGAGCATAAGG -3'
(R):5'- CTGAGTTTTATCTATTCCAACCAGG -3'
|
Posted On |
2014-09-18 |