Incidental Mutation 'R9204:Adgrl1'
ID |
698385 |
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 # |
R9204 (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 84660519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 792
(F792S)
|
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: F797S
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000048422 Gene: ENSMUSG00000013033 AA Change: F797S
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 benign
Transcript: ENSMUST00000131717
AA Change: F621S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000118579 Gene: ENSMUSG00000013033 AA Change: F621S
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: F792S
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000119100 Gene: ENSMUSG00000013033 AA Change: F792S
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
AA Change: F792S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000118452 Gene: ENSMUSG00000013033 AA Change: F792S
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: F797S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000115295 Gene: ENSMUSG00000013033 AA Change: F797S
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: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (52/52) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
C |
8: 60,996,566 (GRCm39) |
V389A |
possibly damaging |
Het |
Angptl2 |
A |
T |
2: 33,118,342 (GRCm39) |
I39F |
probably benign |
Het |
Aprt |
A |
G |
8: 123,303,355 (GRCm39) |
I29T |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,885,816 (GRCm39) |
S464T |
probably damaging |
Het |
Atic |
T |
C |
1: 71,603,636 (GRCm39) |
Y151H |
probably damaging |
Het |
BB014433 |
T |
C |
8: 15,092,623 (GRCm39) |
T77A |
unknown |
Het |
Boc |
C |
A |
16: 44,308,077 (GRCm39) |
C926F |
|
Het |
Brd10 |
A |
G |
19: 29,696,938 (GRCm39) |
S852P |
possibly damaging |
Het |
Cabin1 |
C |
T |
10: 75,530,550 (GRCm39) |
R1544Q |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 57,938,388 (GRCm39) |
V861A |
probably benign |
Het |
Ccdc88c |
T |
C |
12: 100,904,322 (GRCm39) |
T230A |
unknown |
Het |
Cdc42bpa |
T |
A |
1: 179,939,460 (GRCm39) |
|
probably null |
Het |
Chrnb2 |
T |
C |
3: 89,668,128 (GRCm39) |
M396V |
probably benign |
Het |
Chst2 |
A |
G |
9: 95,287,155 (GRCm39) |
V397A |
probably damaging |
Het |
Cit |
T |
A |
5: 116,126,498 (GRCm39) |
N1643K |
probably damaging |
Het |
Ckb |
T |
A |
12: 111,637,869 (GRCm39) |
D113V |
probably benign |
Het |
Cyp2c68 |
A |
T |
19: 39,727,571 (GRCm39) |
M136K |
probably damaging |
Het |
Epas1 |
G |
T |
17: 87,116,873 (GRCm39) |
R181L |
probably damaging |
Het |
Flnc |
A |
C |
6: 29,452,353 (GRCm39) |
I1726L |
possibly damaging |
Het |
Fras1 |
G |
A |
5: 96,883,022 (GRCm39) |
R2518H |
probably damaging |
Het |
Gid4 |
T |
C |
11: 60,308,654 (GRCm39) |
V58A |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,610,262 (GRCm39) |
N1469I |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,278,377 (GRCm39) |
E1693G |
probably damaging |
Het |
Irx4 |
C |
G |
13: 73,416,649 (GRCm39) |
C348W |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,387,438 (GRCm39) |
S410P |
possibly damaging |
Het |
Lsm11 |
A |
G |
11: 45,824,789 (GRCm39) |
V246A |
probably benign |
Het |
Ltbp1 |
G |
T |
17: 75,670,425 (GRCm39) |
V1489F |
probably damaging |
Het |
Mc2r |
T |
C |
18: 68,540,667 (GRCm39) |
T209A |
probably benign |
Het |
Mms22l |
T |
C |
4: 24,581,153 (GRCm39) |
L821P |
probably damaging |
Het |
Mtus2 |
A |
T |
5: 148,238,293 (GRCm39) |
E1206V |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,410,129 (GRCm39) |
H1234Q |
unknown |
Het |
Naip5 |
A |
T |
13: 100,359,008 (GRCm39) |
F743I |
probably damaging |
Het |
Nphp3 |
G |
A |
9: 103,919,305 (GRCm39) |
V1318I |
probably benign |
Het |
Or4c10b |
T |
G |
2: 89,711,482 (GRCm39) |
L104W |
probably damaging |
Het |
Or52a24 |
A |
G |
7: 103,382,056 (GRCm39) |
K308E |
possibly damaging |
Het |
Or5p60 |
A |
T |
7: 107,723,935 (GRCm39) |
N178K |
possibly damaging |
Het |
Or7g26 |
T |
C |
9: 19,229,995 (GRCm39) |
L61P |
probably damaging |
Het |
Or8b4 |
C |
A |
9: 37,830,670 (GRCm39) |
T239K |
probably damaging |
Het |
Or9k2b |
G |
C |
10: 130,016,566 (GRCm39) |
P61R |
probably damaging |
Het |
Paqr5 |
G |
A |
9: 61,868,826 (GRCm39) |
R246C |
probably benign |
Het |
Pdgfb |
T |
C |
15: 79,885,956 (GRCm39) |
Q128R |
probably damaging |
Het |
Prr3 |
T |
A |
17: 36,285,619 (GRCm39) |
I88F |
possibly damaging |
Het |
Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
R3hcc1l |
G |
A |
19: 42,552,301 (GRCm39) |
D433N |
probably benign |
Het |
Scnn1b |
A |
T |
7: 121,498,522 (GRCm39) |
T21S |
probably benign |
Het |
Smcr8 |
A |
G |
11: 60,668,857 (GRCm39) |
I2V |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,940,686 (GRCm39) |
D8G |
probably benign |
Het |
Tbc1d22a |
T |
C |
15: 86,098,803 (GRCm39) |
F10L |
probably benign |
Het |
Tmem126a |
T |
A |
7: 90,102,026 (GRCm39) |
I58F |
possibly damaging |
Het |
Ttf2 |
T |
C |
3: 100,869,880 (GRCm39) |
K398E |
probably benign |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Usp53 |
G |
T |
3: 122,741,068 (GRCm39) |
N727K |
probably benign |
Het |
Vmn2r25 |
T |
G |
6: 123,830,092 (GRCm39) |
I20L |
probably benign |
Het |
Zfp747l1 |
T |
A |
7: 126,984,332 (GRCm39) |
I257L |
unknown |
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 |
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'- ATGTGTCACCCACCTGAGAG -3'
(R):5'- TTCTCTAGAATGCCATGCAAAGC -3'
Sequencing Primer
(F):5'- ACCTGAGAGCGAGCTTCAG -3'
(R):5'- TGCCATGCAAAGCCAGGC -3'
|
Posted On |
2022-02-07 |