Incidental Mutation 'R7181:Adgrl1'
| ID |
568633 |
| 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 |
045270-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7181 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84626734-84668583 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 84652878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045393]
[ENSMUST00000124355]
[ENSMUST00000131717]
[ENSMUST00000132500]
[ENSMUST00000141158]
[ENSMUST00000152978]
|
| AlphaFold |
Q80TR1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045393
|
| SMART Domains |
Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
| 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: 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 null
Transcript: ENSMUST00000131717
|
| SMART Domains |
Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
| 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 null
Transcript: ENSMUST00000152978
|
| SMART Domains |
Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,188,037 (GRCm39) |
N182D |
probably benign |
Het |
| Adm |
T |
C |
7: 110,228,236 (GRCm39) |
I139T |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,852 (GRCm39) |
K4045N |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,392,752 (GRCm39) |
S344R |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,306,691 (GRCm39) |
S1896G |
probably benign |
Het |
| Cd209c |
A |
G |
8: 3,995,712 (GRCm39) |
V30A |
probably benign |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
A |
T |
8: 99,825,557 (GRCm39) |
M520K |
probably benign |
Het |
| Cyp2b23 |
G |
A |
7: 26,373,828 (GRCm39) |
T306I |
probably damaging |
Het |
| Dnajc10 |
T |
G |
2: 80,149,587 (GRCm39) |
Y96* |
probably null |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Elmod1 |
A |
C |
9: 53,841,382 (GRCm39) |
|
probably null |
Het |
| Eva1b |
A |
G |
4: 126,043,446 (GRCm39) |
H162R |
possibly damaging |
Het |
| Fam222b |
A |
T |
11: 78,045,804 (GRCm39) |
N455I |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,447,146 (GRCm39) |
A626T |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,879,373 (GRCm39) |
T76A |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,788,640 (GRCm39) |
|
probably null |
Het |
| Gabrg2 |
T |
A |
11: 41,811,261 (GRCm39) |
I295F |
probably damaging |
Het |
| Gm10406 |
A |
T |
14: 7,027,359 (GRCm38) |
|
probably null |
Het |
| Gm47189 |
T |
C |
14: 41,492,059 (GRCm39) |
M73V |
probably benign |
Het |
| Gm9758 |
A |
T |
5: 14,963,667 (GRCm39) |
S54T |
probably damaging |
Het |
| Gm9857 |
A |
G |
3: 108,847,554 (GRCm39) |
S70P |
unknown |
Het |
| Gsap |
A |
T |
5: 21,458,427 (GRCm39) |
E470D |
probably damaging |
Het |
| Hesx1 |
T |
A |
14: 26,722,678 (GRCm39) |
M1K |
probably null |
Het |
| Hirip3 |
A |
G |
7: 126,463,235 (GRCm39) |
D397G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 33,983,447 (GRCm39) |
N13I |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,803,706 (GRCm39) |
S194T |
possibly damaging |
Het |
| Mrps35 |
T |
G |
6: 146,957,491 (GRCm39) |
|
probably null |
Het |
| Myrfl |
G |
T |
10: 116,697,448 (GRCm39) |
N25K |
probably damaging |
Het |
| Or51b6b |
C |
A |
7: 103,310,020 (GRCm39) |
G146C |
probably damaging |
Het |
| Or7a41 |
A |
G |
10: 78,871,287 (GRCm39) |
Y219C |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,626 (GRCm39) |
I41N |
possibly damaging |
Het |
| Phf14 |
A |
T |
6: 11,933,340 (GRCm39) |
E67D |
unknown |
Het |
| Prdm16 |
C |
T |
4: 154,613,094 (GRCm39) |
G111D |
probably damaging |
Het |
| Prex1 |
G |
A |
2: 166,412,291 (GRCm39) |
A1568V |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,214,325 (GRCm39) |
T1692I |
unknown |
Het |
| Ptprb |
C |
T |
10: 116,204,671 (GRCm39) |
S1835L |
probably damaging |
Het |
| Rbm19 |
G |
A |
5: 120,254,532 (GRCm39) |
|
probably benign |
Het |
| Rgs7bp |
T |
A |
13: 105,119,382 (GRCm39) |
H152L |
possibly damaging |
Het |
| Rmdn3 |
A |
T |
2: 118,969,849 (GRCm39) |
L404Q |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,023,144 (GRCm39) |
F1148I |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sec24c |
C |
A |
14: 20,739,401 (GRCm39) |
H559N |
probably damaging |
Het |
| Sephs2 |
T |
C |
7: 126,872,992 (GRCm39) |
S34G |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,613,203 (GRCm39) |
S366T |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,378,052 (GRCm39) |
E248D |
probably benign |
Het |
| Sesn1 |
G |
T |
10: 41,779,724 (GRCm39) |
R386L |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,602 (GRCm39) |
S430G |
unknown |
Het |
| Slc28a2 |
A |
T |
2: 122,282,462 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
T |
C |
3: 135,563,299 (GRCm39) |
F203S |
possibly damaging |
Het |
| Svip |
A |
G |
7: 51,653,177 (GRCm39) |
S46P |
possibly damaging |
Het |
| Tbx21 |
T |
A |
11: 96,989,923 (GRCm39) |
D423V |
probably benign |
Het |
| Tcirg1 |
G |
A |
19: 3,953,576 (GRCm39) |
A117V |
probably null |
Het |
| Tmem63b |
T |
A |
17: 45,984,094 (GRCm39) |
K258N |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,685,600 (GRCm39) |
N951S |
probably damaging |
Het |
| Uba2 |
G |
T |
7: 33,840,854 (GRCm39) |
D591E |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,258,893 (GRCm39) |
R1356W |
probably damaging |
Het |
| Wasf3 |
A |
G |
5: 146,403,615 (GRCm39) |
T242A |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,650,709 (GRCm39) |
L12P |
probably damaging |
Het |
| Zfp770 |
T |
C |
2: 114,027,872 (GRCm39) |
K66E |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,182 (GRCm39) |
D1431E |
probably benign |
Het |
| Zhx2 |
G |
A |
15: 57,686,746 (GRCm39) |
R705H |
probably benign |
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 |
|
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'- TGCCTGTCTGTACCATACCCAG -3'
(R):5'- AATCTTGCCCAGGCTCAGAG -3'
Sequencing Primer
(F):5'- GTCTGTACCATACCCAGTCTCTTTG -3'
(R):5'- AGAGGAGCTTCCGTGAGTATC -3'
|
| Posted On |
2019-09-05 |
Incidental Mutation