Incidental Mutation 'R9695:Adgrl1'
ID 729220
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) question?
Stock # R9695 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 84626734-84668583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84665060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1249 (R1249Q)
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 damaging
Transcript: ENSMUST00000045393
AA Change: R1254Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: R1254Q

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 60 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124355
SMART Domains Protein: ENSMUSP00000116064
Gene: ENSMUSG00000013033

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Gal_Lectin 48 128 1.1e-24 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000117720
Gene: ENSMUSG00000013033
AA Change: R68Q

DomainStartEndE-ValueType
Pfam:Latrophilin 1 213 9.2e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131717
AA Change: R1078Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: R1078Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000132500
AA Change: R1294Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: R1294Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000141158
AA Change: R1249Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: R1249Q

DomainStartEndE-ValueType
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: R1299Q

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: R1299Q

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,170,739 (GRCm39) T1A Het
Apeh G A 9: 107,963,483 (GRCm39) R580C probably damaging Het
Armc12 T A 17: 28,749,993 (GRCm39) C46S probably benign Het
Avpr1a C T 10: 122,284,845 (GRCm39) R46C probably damaging Het
Cbln4 C G 2: 171,879,469 (GRCm39) G140R probably damaging Het
Ccdc89 A G 7: 90,076,552 (GRCm39) N254S probably benign Het
Cd96 T A 16: 45,919,410 (GRCm39) I204F probably damaging Het
Cel G T 2: 28,450,961 (GRCm39) L101I probably damaging Het
Crtap A T 9: 114,215,378 (GRCm39) Y170* probably null Het
Ctxn3 A G 18: 57,610,185 (GRCm39) M1V probably null Het
Cwf19l1 G T 19: 44,101,425 (GRCm39) H478N probably damaging Het
Dpysl3 A T 18: 43,571,192 (GRCm39) D27E probably damaging Het
Dsg1b A G 18: 20,532,389 (GRCm39) T478A probably damaging Het
Dvl2 G A 11: 69,899,976 (GRCm39) R590Q possibly damaging Het
Elovl7 C A 13: 108,416,242 (GRCm39) Q211K probably damaging Het
Fech A G 18: 64,600,803 (GRCm39) I233T probably damaging Het
Fsip2 A T 2: 82,806,226 (GRCm39) Q848H probably benign Het
Gna15 A G 10: 81,359,752 (GRCm39) C13R probably damaging Het
Gstt4 A T 10: 75,657,072 (GRCm39) S65T probably benign Het
Heatr1 T C 13: 12,438,624 (GRCm39) V1353A probably damaging Het
Hip1r A T 5: 124,139,916 (GRCm39) K1006N possibly damaging Het
Hspg2 T A 4: 137,265,701 (GRCm39) V1804E probably damaging Het
Ifi206 T C 1: 173,301,249 (GRCm39) T810A unknown Het
Ighv1-69 T C 12: 115,586,987 (GRCm39) T49A probably benign Het
Il4i1 A T 7: 44,489,033 (GRCm39) D266V probably damaging Het
Itga3 A T 11: 94,946,520 (GRCm39) probably null Het
Itpr1 A G 6: 108,378,311 (GRCm39) N1279S probably damaging Het
Madd T C 2: 90,992,929 (GRCm39) T997A probably benign Het
Mal C T 2: 127,482,308 (GRCm39) V32I probably benign Het
Map9 T A 3: 82,284,292 (GRCm39) S289T probably benign Het
Mmp15 G T 8: 96,097,414 (GRCm39) R461L possibly damaging Het
Nelfcd T A 2: 174,266,923 (GRCm39) I395N probably benign Het
Neurog2 T A 3: 127,427,694 (GRCm39) V106E probably damaging Het
Nup160 T A 2: 90,538,486 (GRCm39) N761K probably damaging Het
Oasl1 G A 5: 115,074,054 (GRCm39) R321Q probably damaging Het
Oosp2 T C 19: 11,628,994 (GRCm39) T36A Het
Or2a52 A T 6: 43,144,510 (GRCm39) I173L probably benign Het
Or7g22 A G 9: 19,049,171 (GRCm39) N294S probably damaging Het
Or8k30 T C 2: 86,339,100 (GRCm39) V99A probably benign Het
Or9s27 A G 1: 92,516,595 (GRCm39) D181G probably benign Het
Otx2 T G 14: 48,899,952 (GRCm39) S16R probably damaging Het
Phactr2 A G 10: 13,349,908 (GRCm39) S39P unknown Het
Piwil2 A G 14: 70,627,349 (GRCm39) Y797H possibly damaging Het
Plxna4 T G 6: 32,183,056 (GRCm39) Y949S probably benign Het
Prss35 A G 9: 86,637,761 (GRCm39) Y177C probably damaging Het
Rbm19 T C 5: 120,335,986 (GRCm39) I934T probably damaging Het
Rictor T G 15: 6,816,010 (GRCm39) V1094G probably benign Het
Riok1 A G 13: 38,242,676 (GRCm39) T467A possibly damaging Het
Slc15a4 G A 5: 127,694,400 (GRCm39) R12W possibly damaging Het
Slc44a5 T A 3: 153,956,588 (GRCm39) I280K probably damaging Het
Slc9c1 T C 16: 45,368,026 (GRCm39) L205S probably benign Het
Slco2a1 A G 9: 102,962,139 (GRCm39) R604G possibly damaging Het
Slmap T A 14: 26,183,496 (GRCm39) T296S probably damaging Het
Snrk T C 9: 121,995,640 (GRCm39) V473A probably benign Het
Spart A G 3: 55,033,955 (GRCm39) T394A probably benign Het
Stil T C 4: 114,881,378 (GRCm39) S641P probably damaging Het
Syne1 A G 10: 5,268,461 (GRCm39) V2076A probably benign Het
Tcirg1 G A 19: 3,952,360 (GRCm39) A336V probably null Het
Tespa1 T C 10: 130,198,285 (GRCm39) S436P probably benign Het
Thumpd3 G T 6: 113,024,622 (GRCm39) R72L possibly damaging Het
Tmem70 A C 1: 16,735,659 (GRCm39) E43A probably benign Het
Vars1 A G 17: 35,231,564 (GRCm39) D696G possibly damaging Het
Vwa5b2 A T 16: 20,422,975 (GRCm39) H991L probably benign Het
Zfp160 A G 17: 21,245,746 (GRCm39) K99E possibly damaging Het
Zfp759 G A 13: 67,287,198 (GRCm39) V250I possibly damaging Het
Zmym6 T C 4: 127,016,340 (GRCm39) V707A probably benign Het
Other mutations in Adgrl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R9302:Adgrl1 UTSW 8 84,656,426 (GRCm39) missense possibly damaging 0.91
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'- ACACCCCTGTCAGCCTATTG -3'
(R):5'- AGTTCAATCTCTGCCCGGTC -3'

Sequencing Primer
(F):5'- AGACGCCACTGCAGCAGAG -3'
(R):5'- AATCTCTGCCCGGTCAGCAC -3'
Posted On 2022-10-06