Incidental Mutation 'R1610:Adgrl1'
ID |
176738 |
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 |
039647-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1610 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
84626734-84668583 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84659002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 601
(M601K)
|
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: M606K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000048422 Gene: ENSMUSG00000013033 AA Change: M606K
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: ENSMUST00000131717
AA Change: M430K
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000118579 Gene: ENSMUSG00000013033 AA Change: M430K
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
AA Change: M601K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000119100 Gene: ENSMUSG00000013033 AA Change: M601K
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 benign
Transcript: ENSMUST00000141158
AA Change: M601K
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000118452 Gene: ENSMUSG00000013033 AA Change: M601K
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: M606K
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000115295 Gene: ENSMUSG00000013033 AA Change: M606K
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 |
noncoding transcript
Transcript: ENSMUST00000141661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199528
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150674
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd5 |
G |
A |
2: 22,980,563 (GRCm39) |
C312Y |
probably damaging |
Het |
Agbl4 |
G |
A |
4: 111,514,365 (GRCm39) |
E459K |
probably benign |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Casz1 |
C |
T |
4: 149,013,544 (GRCm39) |
A36V |
possibly damaging |
Het |
Cfap20dc |
G |
T |
14: 8,511,110 (GRCm38) |
H435N |
probably benign |
Het |
Chpf |
A |
G |
1: 75,453,292 (GRCm39) |
V327A |
probably damaging |
Het |
Cldn23 |
A |
G |
8: 36,293,084 (GRCm39) |
Y135H |
probably damaging |
Het |
Cobll1 |
C |
T |
2: 64,963,986 (GRCm39) |
D211N |
probably damaging |
Het |
Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,121,946 (GRCm39) |
T1374A |
probably benign |
Het |
Dpyd |
A |
G |
3: 118,858,655 (GRCm39) |
H623R |
probably benign |
Het |
Dyrk2 |
T |
C |
10: 118,695,830 (GRCm39) |
N476S |
probably benign |
Het |
Endog |
A |
T |
2: 30,063,899 (GRCm39) |
I267F |
probably damaging |
Het |
Ephb6 |
A |
T |
6: 41,591,307 (GRCm39) |
K155* |
probably null |
Het |
Far2 |
T |
C |
6: 148,058,956 (GRCm39) |
V214A |
possibly damaging |
Het |
Fat2 |
A |
G |
11: 55,169,750 (GRCm39) |
V3003A |
probably damaging |
Het |
Frg2f1 |
T |
A |
4: 119,388,485 (GRCm39) |
T5S |
possibly damaging |
Het |
Gm14496 |
A |
T |
2: 181,637,972 (GRCm39) |
T349S |
probably benign |
Het |
Golgb1 |
A |
G |
16: 36,746,463 (GRCm39) |
T2951A |
probably benign |
Het |
Hc |
G |
T |
2: 34,896,173 (GRCm39) |
D1203E |
probably benign |
Het |
Isg20 |
C |
A |
7: 78,564,257 (GRCm39) |
Q55K |
possibly damaging |
Het |
Jph4 |
G |
T |
14: 55,351,560 (GRCm39) |
A152E |
probably damaging |
Het |
Kcnq3 |
T |
C |
15: 65,897,109 (GRCm39) |
T264A |
probably damaging |
Het |
Kcnq5 |
T |
G |
1: 21,527,685 (GRCm39) |
T463P |
probably damaging |
Het |
Klra8 |
A |
G |
6: 130,095,981 (GRCm39) |
S204P |
probably damaging |
Het |
Ldlrad1 |
A |
G |
4: 107,072,072 (GRCm39) |
D98G |
probably damaging |
Het |
Lhfpl4 |
T |
C |
6: 113,171,097 (GRCm39) |
T30A |
possibly damaging |
Het |
Lig1 |
T |
A |
7: 13,019,266 (GRCm39) |
L80Q |
probably damaging |
Het |
Lmbrd2 |
A |
G |
15: 9,186,699 (GRCm39) |
Y558C |
probably benign |
Het |
Lrrn3 |
G |
T |
12: 41,502,992 (GRCm39) |
L442I |
possibly damaging |
Het |
Mc2r |
A |
G |
18: 68,540,519 (GRCm39) |
F258S |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,011,582 (GRCm39) |
T137A |
probably benign |
Het |
Nfatc2ip |
A |
T |
7: 125,986,579 (GRCm39) |
S359T |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Nup50l |
G |
T |
6: 96,142,270 (GRCm39) |
P258Q |
probably damaging |
Het |
Or10a48 |
T |
A |
7: 108,425,131 (GRCm39) |
H25L |
probably benign |
Het |
Or4c15b |
T |
C |
2: 89,113,165 (GRCm39) |
H104R |
probably damaging |
Het |
Or4s2b |
A |
T |
2: 88,508,918 (GRCm39) |
K233* |
probably null |
Het |
Or8b1b |
C |
T |
9: 38,375,927 (GRCm39) |
L197F |
probably damaging |
Het |
Pacc1 |
A |
G |
1: 191,077,262 (GRCm39) |
D195G |
probably benign |
Het |
Plagl1 |
C |
T |
10: 13,004,706 (GRCm39) |
|
probably benign |
Het |
Plxnb2 |
A |
T |
15: 89,042,696 (GRCm39) |
S1531T |
probably damaging |
Het |
Ptpn22 |
G |
A |
3: 103,809,512 (GRCm39) |
|
probably null |
Het |
Rtn1 |
T |
A |
12: 72,266,053 (GRCm39) |
Q174L |
possibly damaging |
Het |
Selenoo |
A |
G |
15: 88,984,119 (GRCm39) |
E645G |
probably benign |
Het |
Serpina1a |
A |
C |
12: 103,820,096 (GRCm39) |
D383E |
possibly damaging |
Het |
Slc6a18 |
T |
A |
13: 73,816,344 (GRCm39) |
Y345F |
probably benign |
Het |
Smbd1 |
A |
G |
16: 32,627,135 (GRCm39) |
V51A |
possibly damaging |
Het |
Tchh |
C |
T |
3: 93,352,146 (GRCm39) |
R529W |
unknown |
Het |
Tonsl |
A |
T |
15: 76,522,757 (GRCm39) |
Y165N |
probably damaging |
Het |
Trdmt1 |
G |
A |
2: 13,520,870 (GRCm39) |
T344I |
probably damaging |
Het |
Ubash3b |
C |
A |
9: 40,954,796 (GRCm39) |
R116L |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,463,995 (GRCm39) |
V765A |
probably damaging |
Het |
Zfp474 |
C |
T |
18: 52,771,437 (GRCm39) |
T30I |
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 |
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 |
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'- TGCCACCCTACAATGACCAGTGAG -3'
(R):5'- TGACATTGTCAGCCAGCAGGAAG -3'
Sequencing Primer
(F):5'- CCTACAATGACCAGTGAGGGATG -3'
(R):5'- CTCCAGGACATCTAGAAGCATGG -3'
|
Posted On |
2014-04-24 |