Incidental Mutation 'R9302:Adgrl1'
ID |
705010 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9302 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
84626734-84668583 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84656426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 243
(V243A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118452
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045393]
[ENSMUST00000098595]
[ENSMUST00000124355]
[ENSMUST00000131717]
[ENSMUST00000132500]
[ENSMUST00000141158]
[ENSMUST00000152978]
|
AlphaFold |
Q80TR1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045393
AA Change: V248A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048422 Gene: ENSMUSG00000013033 AA Change: V248A
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 |
possibly damaging
Transcript: ENSMUST00000131717
AA Change: V72A
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118579 Gene: ENSMUSG00000013033 AA Change: V72A
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 |
possibly damaging
Transcript: ENSMUST00000132500
AA Change: V243A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119100 Gene: ENSMUSG00000013033 AA Change: V243A
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 |
possibly damaging
Transcript: ENSMUST00000141158
AA Change: V243A
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118452 Gene: ENSMUSG00000013033 AA Change: V243A
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 |
possibly damaging
Transcript: ENSMUST00000152978
AA Change: V248A
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115295 Gene: ENSMUSG00000013033 AA Change: V248A
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 |
0.1388 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (54/54) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aar2 |
T |
C |
2: 156,392,956 (GRCm39) |
L115P |
probably damaging |
Het |
Acsl1 |
T |
A |
8: 46,983,470 (GRCm39) |
D494E |
probably damaging |
Het |
Ak9 |
A |
T |
10: 41,196,486 (GRCm39) |
I103F |
|
Het |
Ank3 |
C |
T |
10: 69,761,849 (GRCm39) |
|
probably benign |
Het |
Ano4 |
T |
A |
10: 88,831,220 (GRCm39) |
I468L |
probably benign |
Het |
Anxa2r1 |
A |
G |
13: 120,496,626 (GRCm39) |
I81T |
probably benign |
Het |
Arhgef10l |
G |
A |
4: 140,242,548 (GRCm39) |
S959L |
probably benign |
Het |
Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
Cfap221 |
T |
C |
1: 119,853,365 (GRCm39) |
I776M |
probably benign |
Het |
Col3a1 |
C |
T |
1: 45,350,980 (GRCm39) |
Q25* |
probably null |
Het |
Crabp2 |
C |
A |
3: 87,859,833 (GRCm39) |
L100I |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,240,032 (GRCm39) |
D463G |
probably benign |
Het |
Dst |
T |
C |
1: 34,264,636 (GRCm39) |
L2602P |
probably damaging |
Het |
Dusp1 |
A |
G |
17: 26,726,148 (GRCm39) |
Y182H |
probably damaging |
Het |
Fhip1a |
C |
A |
3: 85,579,941 (GRCm39) |
D755Y |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,682,751 (GRCm39) |
C83S |
probably damaging |
Het |
Frrs1 |
G |
T |
3: 116,692,899 (GRCm39) |
|
probably null |
Het |
Gcnt3 |
A |
G |
9: 69,942,529 (GRCm39) |
L13P |
possibly damaging |
Het |
Gm8094 |
T |
C |
14: 42,932,834 (GRCm39) |
D88G |
probably benign |
Het |
Hfe |
C |
T |
13: 23,890,025 (GRCm39) |
M249I |
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,685,099 (GRCm39) |
E172G |
probably benign |
Het |
Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
Ltb4r2 |
A |
T |
14: 55,999,733 (GRCm39) |
Q118L |
probably damaging |
Het |
Ltbp4 |
A |
T |
7: 27,008,481 (GRCm39) |
C1342S |
possibly damaging |
Het |
Lyst |
A |
G |
13: 13,904,947 (GRCm39) |
D3208G |
possibly damaging |
Het |
Mbnl2 |
A |
G |
14: 120,622,950 (GRCm39) |
T163A |
probably benign |
Het |
Mre11a |
T |
A |
9: 14,696,826 (GRCm39) |
|
probably null |
Het |
Myo15b |
A |
G |
11: 115,776,238 (GRCm39) |
N610D |
possibly damaging |
Het |
Nt5c1b |
T |
C |
12: 10,430,882 (GRCm39) |
S390P |
probably damaging |
Het |
Or10ag53 |
T |
A |
2: 87,082,906 (GRCm39) |
F208L |
probably benign |
Het |
Pde3b |
A |
G |
7: 114,122,621 (GRCm39) |
T730A |
probably damaging |
Het |
Pdzd2 |
G |
T |
15: 12,374,342 (GRCm39) |
T1931N |
possibly damaging |
Het |
Pla2g15 |
C |
T |
8: 106,877,201 (GRCm39) |
A28V |
probably benign |
Het |
Pmfbp1 |
A |
T |
8: 110,268,474 (GRCm39) |
D1007V |
probably damaging |
Het |
Polr1a |
T |
A |
6: 71,901,683 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
T |
C |
6: 14,721,891 (GRCm39) |
K312E |
probably benign |
Het |
Prmt5 |
G |
A |
14: 54,749,583 (GRCm39) |
T269I |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,009,540 (GRCm39) |
S793P |
probably benign |
Het |
Rbm12b1 |
C |
A |
4: 12,146,181 (GRCm39) |
H718N |
probably benign |
Het |
Rfx1 |
T |
A |
8: 84,817,662 (GRCm39) |
M512K |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,416,789 (GRCm39) |
E1441G |
probably damaging |
Het |
Slc16a6 |
C |
T |
11: 109,350,634 (GRCm39) |
V207I |
probably benign |
Het |
Slc6a9 |
G |
A |
4: 117,706,596 (GRCm39) |
R7H |
possibly damaging |
Het |
Sptlc1 |
A |
T |
13: 53,528,047 (GRCm39) |
V39D |
probably benign |
Het |
Strc |
A |
T |
2: 121,211,336 (GRCm39) |
L3Q |
unknown |
Het |
Svep1 |
C |
T |
4: 58,120,565 (GRCm39) |
E823K |
possibly damaging |
Het |
Tat |
A |
G |
8: 110,725,031 (GRCm39) |
|
probably benign |
Het |
Thoc1 |
T |
A |
18: 9,968,800 (GRCm39) |
N190K |
possibly damaging |
Het |
Tomt |
T |
C |
7: 101,549,826 (GRCm39) |
E154G |
probably damaging |
Het |
Topaz1 |
T |
A |
9: 122,617,887 (GRCm39) |
V1228E |
possibly damaging |
Het |
Trim55 |
G |
A |
3: 19,727,153 (GRCm39) |
V407M |
probably benign |
Het |
Ttll5 |
T |
A |
12: 85,873,338 (GRCm39) |
M5K |
possibly damaging |
Het |
Ugt2a2 |
A |
C |
5: 87,609,940 (GRCm39) |
Y380* |
probably null |
Het |
Usp46 |
A |
G |
5: 74,163,922 (GRCm39) |
Y272H |
probably benign |
Het |
Vps39 |
A |
T |
2: 120,151,525 (GRCm39) |
|
probably benign |
Het |
Zfp12 |
T |
A |
5: 143,230,421 (GRCm39) |
H281Q |
probably damaging |
Het |
Zfp142 |
C |
A |
1: 74,606,302 (GRCm39) |
R1756L |
probably damaging |
Het |
Zmynd10 |
T |
A |
9: 107,426,516 (GRCm39) |
I183K |
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 |
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 |
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'- ACTGAATATGCCTCATGGGAG -3'
(R):5'- CACCATGAAGGCATTGGAGG -3'
Sequencing Primer
(F):5'- CTCATGGGAGGACTATGTAGCC -3'
(R):5'- AGCGCTTGTCATAGCCTG -3'
|
Posted On |
2022-03-25 |