Incidental Mutation 'R6033:Adgrl1'
| ID |
480512 |
| 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 |
044205-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84626734-84668583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84645551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 58
(V58E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045393]
[ENSMUST00000124355]
[ENSMUST00000132500]
[ENSMUST00000141158]
[ENSMUST00000152978]
|
| AlphaFold |
Q80TR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045393
AA Change: V58E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: V58E
| 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 damaging
Transcript: ENSMUST00000124355
AA Change: V58E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116064
Gene: ENSMUSG00000013033
AA Change: V58E
| 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 damaging
Transcript: ENSMUST00000132500
AA Change: V58E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: V58E
| 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: ENSMUST00000141158
AA Change: V58E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: V58E
| 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 damaging
Transcript: ENSMUST00000152978
AA Change: V58E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: V58E
| 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 |
|
| Meta Mutation Damage Score |
0.5176 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.9%
- 20x: 89.0%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,118,403 (GRCm39) |
S240P |
probably damaging |
Het |
| Alox12e |
C |
T |
11: 70,206,839 (GRCm39) |
G616D |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Ccdc150 |
G |
T |
1: 54,324,787 (GRCm39) |
|
probably null |
Het |
| Chct1 |
A |
G |
11: 85,069,198 (GRCm39) |
E72G |
probably damaging |
Het |
| Cmtm8 |
T |
C |
9: 114,625,141 (GRCm39) |
T97A |
probably damaging |
Het |
| Cnmd |
T |
C |
14: 79,898,945 (GRCm39) |
S36G |
probably benign |
Het |
| Dnah3 |
A |
C |
7: 119,670,870 (GRCm39) |
N609K |
probably benign |
Het |
| Dph1 |
C |
T |
11: 75,082,023 (GRCm39) |
|
probably benign |
Het |
| Drosha |
G |
A |
15: 12,926,085 (GRCm39) |
A1225T |
probably benign |
Het |
| Eid3 |
T |
A |
10: 82,703,487 (GRCm39) |
I316K |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,530,622 (GRCm39) |
L449S |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,066 (GRCm39) |
|
probably benign |
Het |
| Glra1 |
A |
G |
11: 55,418,245 (GRCm39) |
Y250H |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,310,583 (GRCm39) |
E941G |
probably benign |
Het |
| Homer2 |
A |
C |
7: 81,268,427 (GRCm39) |
S78A |
possibly damaging |
Het |
| Ica1 |
T |
A |
6: 8,630,799 (GRCm39) |
|
probably null |
Het |
| Ifna12 |
T |
C |
4: 88,521,154 (GRCm39) |
E131G |
possibly damaging |
Het |
| Igbp1b |
T |
C |
6: 138,635,207 (GRCm39) |
Y79C |
probably damaging |
Het |
| Incenp |
C |
T |
19: 9,850,061 (GRCm39) |
V871I |
probably damaging |
Het |
| Jaml |
G |
A |
9: 45,000,008 (GRCm39) |
G60D |
probably damaging |
Het |
| Kcp |
C |
T |
6: 29,493,193 (GRCm39) |
C110Y |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,255,022 (GRCm39) |
V460A |
probably benign |
Het |
| Myrfl |
A |
T |
10: 116,685,006 (GRCm39) |
C125S |
probably benign |
Het |
| Ncan |
T |
C |
8: 70,565,240 (GRCm39) |
D229G |
probably damaging |
Het |
| Ncoa4-ps |
A |
G |
12: 119,225,475 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp10 |
A |
T |
7: 108,523,784 (GRCm39) |
D565E |
probably benign |
Het |
| Npas2 |
T |
C |
1: 39,377,261 (GRCm39) |
V541A |
probably damaging |
Het |
| Nsg2 |
G |
A |
11: 32,005,058 (GRCm39) |
V87M |
possibly damaging |
Het |
| Or5al6 |
A |
T |
2: 85,976,613 (GRCm39) |
V155E |
probably damaging |
Het |
| Prkd2 |
C |
T |
7: 16,599,639 (GRCm39) |
R701C |
probably damaging |
Het |
| Prr5 |
A |
G |
15: 84,626,126 (GRCm39) |
E67G |
probably damaging |
Het |
| Prss36 |
T |
C |
7: 127,533,739 (GRCm39) |
R22G |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,064,817 (GRCm39) |
Y950H |
probably damaging |
Het |
| Slc45a4 |
G |
A |
15: 73,453,825 (GRCm39) |
A716V |
probably damaging |
Het |
| Slc46a1 |
T |
C |
11: 78,356,833 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
C |
7: 49,609,099 (GRCm39) |
I768T |
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 97,009,041 (GRCm39) |
|
probably null |
Het |
| Taar2 |
A |
T |
10: 23,816,874 (GRCm39) |
H138L |
probably benign |
Het |
| Taf2 |
A |
C |
15: 54,922,297 (GRCm39) |
L330R |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,901,210 (GRCm39) |
|
probably null |
Het |
| Tmed4 |
A |
T |
11: 6,224,491 (GRCm39) |
Y56* |
probably null |
Het |
| Tmem156 |
A |
T |
5: 65,232,964 (GRCm39) |
F135L |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,025,713 (GRCm39) |
S65P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,557,171 (GRCm39) |
G28199R |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,447,159 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,512,419 (GRCm39) |
T110S |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,137 (GRCm39) |
V809E |
probably damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,318,599 (GRCm39) |
F476L |
probably damaging |
Het |
| Zbtb24 |
T |
C |
10: 41,340,397 (GRCm39) |
F498L |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,236,419 (GRCm39) |
L494Q |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,554,464 (GRCm39) |
S481P |
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 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation