Incidental Mutation 'R1778:Adgrl1'
ID 197243
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 039809-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1778 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 84626734-84668583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84656666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 323 (L323P)
Ref Sequence ENSEMBL: ENSMUSP00000119100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045393] [ENSMUST00000098595] [ENSMUST00000124355] [ENSMUST00000131717] [ENSMUST00000132500] [ENSMUST00000152978] [ENSMUST00000141158]
AlphaFold Q80TR1
Predicted Effect probably damaging
Transcript: ENSMUST00000045393
AA Change: L328P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: L328P

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 probably damaging
Transcript: ENSMUST00000131717
AA Change: L152P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: L152P

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: L323P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: L323P

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 noncoding transcript
Transcript: ENSMUST00000139575
Predicted Effect probably damaging
Transcript: ENSMUST00000152978
AA Change: L328P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: L328P

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
Predicted Effect probably damaging
Transcript: ENSMUST00000141158
AA Change: L323P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: L323P

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 noncoding transcript
Transcript: ENSMUST00000200106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150674
Meta Mutation Damage Score 0.7311 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency 98% (107/109)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T C 7: 29,260,131 (GRCm39) noncoding transcript Het
4930568D16Rik A G 2: 35,244,995 (GRCm39) M119T probably damaging Het
Aadacl2 A G 3: 59,924,871 (GRCm39) probably null Het
Abca9 C T 11: 110,021,542 (GRCm39) W1056* probably null Het
Adam20 A C 8: 41,249,698 (GRCm39) T603P possibly damaging Het
Afap1l2 C T 19: 56,904,638 (GRCm39) E628K possibly damaging Het
Ahctf1 A T 1: 179,580,580 (GRCm39) L1874Q possibly damaging Het
Ak8 A G 2: 28,602,333 (GRCm39) E89G probably benign Het
Aldh16a1 G A 7: 44,796,732 (GRCm39) R256C probably damaging Het
Anxa5 G A 3: 36,519,480 (GRCm39) T3M probably damaging Het
Arhgef16 T C 4: 154,372,443 (GRCm39) K210E probably benign Het
Baz2b T C 2: 59,836,480 (GRCm39) T18A unknown Het
Bub1 A C 2: 127,645,042 (GRCm39) I960M possibly damaging Het
Cbln2 G T 18: 86,731,272 (GRCm39) D27Y probably benign Het
Ces2h C A 8: 105,741,239 (GRCm39) P77Q possibly damaging Het
Cfap410 G T 10: 77,818,778 (GRCm39) A150S probably benign Het
Chga T A 12: 102,527,959 (GRCm39) M150K probably benign Het
Chmp3 A G 6: 71,554,791 (GRCm39) E162G probably benign Het
Clip3 A G 7: 29,996,861 (GRCm39) N161S probably damaging Het
Col12a1 T A 9: 79,511,867 (GRCm39) probably benign Het
Cuedc2 C T 19: 46,320,079 (GRCm39) G105D probably benign Het
Cyp2j7 A C 4: 96,087,627 (GRCm39) F428V probably damaging Het
Ddx60 A G 8: 62,427,210 (GRCm39) I762V possibly damaging Het
Def6 G A 17: 28,439,160 (GRCm39) R257Q probably benign Het
Dkkl1 A T 7: 44,860,819 (GRCm39) probably null Het
Dnah3 A G 7: 119,677,625 (GRCm39) L433P probably damaging Het
Eif2s3y C T Y: 1,011,287 (GRCm39) R33C probably benign Het
Elavl2 T A 4: 91,141,715 (GRCm39) Y269F probably damaging Het
Esco2 A G 14: 66,068,711 (GRCm39) S200P possibly damaging Het
Fcrl1 T A 3: 87,292,626 (GRCm39) probably benign Het
Fhod1 C A 8: 106,056,309 (GRCm39) D1135Y probably damaging Het
Fnbp1l T C 3: 122,383,796 (GRCm39) N41D possibly damaging Het
Folh1 A T 7: 86,410,907 (GRCm39) probably null Het
Fpr-rs7 T C 17: 20,334,277 (GRCm39) D71G probably damaging Het
Gm10271 A G 10: 116,797,844 (GRCm39) probably benign Het
Gm4841 A T 18: 60,404,020 (GRCm39) Y24* probably null Het
Greb1 G A 12: 16,740,895 (GRCm39) R1396C probably benign Het
Hectd1 C T 12: 51,800,590 (GRCm39) C2076Y probably damaging Het
Hnrnpu A G 1: 178,152,806 (GRCm39) probably benign Het
Ice2 T C 9: 69,322,930 (GRCm39) I475T probably benign Het
Ifit1bl1 T A 19: 34,571,593 (GRCm39) Q288L probably damaging Het
Ift56 T A 6: 38,386,411 (GRCm39) D377E possibly damaging Het
Ik T C 18: 36,889,871 (GRCm39) probably benign Het
Kidins220 C T 12: 25,063,445 (GRCm39) probably benign Het
Kmt2c T C 5: 25,577,972 (GRCm39) D768G probably benign Het
Kmt2e A G 5: 23,697,362 (GRCm39) T87A probably damaging Het
Lama5 G A 2: 179,837,274 (GRCm39) probably benign Het
Lmbr1l A G 15: 98,810,357 (GRCm39) S85P probably damaging Het
Lrig2 A G 3: 104,374,682 (GRCm39) probably benign Het
Lrig3 A G 10: 125,845,944 (GRCm39) D791G probably damaging Het
Lrrc2 G A 9: 110,809,908 (GRCm39) V315M probably benign Het
Lrrc4b A G 7: 44,111,823 (GRCm39) D565G probably benign Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Msrb2 T A 2: 19,388,114 (GRCm39) D87E probably benign Het
Muc20 T C 16: 32,614,511 (GRCm39) T289A possibly damaging Het
Myo15a C A 11: 60,369,238 (GRCm39) P666Q possibly damaging Het
Nfat5 C T 8: 108,088,421 (GRCm39) P579L probably damaging Het
Nipbl A C 15: 8,348,972 (GRCm39) M1920R probably damaging Het
Nuak1 T C 10: 84,210,738 (GRCm39) probably null Het
Nup210l A G 3: 90,096,793 (GRCm39) E1334G probably damaging Het
Odad2 A T 18: 7,127,388 (GRCm39) C942S probably damaging Het
Or52e8b A T 7: 104,673,370 (GRCm39) N272K probably benign Het
Or5an1c T A 19: 12,218,819 (GRCm39) I69F probably benign Het
Or6c6c T C 10: 129,541,574 (GRCm39) Y276H probably benign Het
Or9s13 G A 1: 92,548,342 (GRCm39) G238E possibly damaging Het
Or9s14 A T 1: 92,535,831 (GRCm39) N91Y possibly damaging Het
P4ha3 A T 7: 99,949,898 (GRCm39) probably null Het
Pbld2 C T 10: 62,890,150 (GRCm39) A186V probably benign Het
Pcdh18 A T 3: 49,710,083 (GRCm39) Y411N probably benign Het
Pgf A G 12: 85,218,541 (GRCm39) S70P probably benign Het
Phrf1 T A 7: 140,812,369 (GRCm39) D44E probably benign Het
Pla2g4a A G 1: 149,778,196 (GRCm39) probably benign Het
Plce1 A G 19: 38,769,234 (GRCm39) probably benign Het
Plxna2 A G 1: 194,493,278 (GRCm39) N1851S probably benign Het
Prl7a2 G A 13: 27,843,254 (GRCm39) T183I probably damaging Het
Prxl2b A T 4: 154,981,814 (GRCm39) V151D probably damaging Het
Ptger4 A T 15: 5,264,576 (GRCm39) L335H probably damaging Het
Ptgr1 A G 4: 58,984,865 (GRCm39) probably benign Het
Rdh7 A G 10: 127,720,590 (GRCm39) S261P probably benign Het
Reg3a A G 6: 78,360,269 (GRCm39) T150A probably benign Het
Rnf111 A G 9: 70,383,394 (GRCm39) S180P probably benign Het
Rnf17 A G 14: 56,759,856 (GRCm39) M1554V probably damaging Het
Rnf215 T A 11: 4,085,873 (GRCm39) Y117* probably null Het
Rnps1-ps A T 6: 7,983,124 (GRCm39) noncoding transcript Het
Rogdi T C 16: 4,828,369 (GRCm39) T165A probably benign Het
Rpe65 A G 3: 159,328,485 (GRCm39) Y431C probably damaging Het
Scube1 A G 15: 83,494,405 (GRCm39) F844S probably damaging Het
Sdr16c6 T A 4: 4,058,814 (GRCm39) E257D probably benign Het
Sim1 C A 10: 50,857,649 (GRCm39) C466* probably null Het
Spi1 T A 2: 90,929,867 (GRCm39) H46Q probably damaging Het
Sumf2 C A 5: 129,873,909 (GRCm39) probably benign Het
Tbcb A G 7: 29,931,037 (GRCm39) Y28H probably benign Het
Tecta C T 9: 42,254,927 (GRCm39) C1752Y probably damaging Het
Tep1 T C 14: 51,067,079 (GRCm39) probably benign Het
Tmem245 A T 4: 56,903,968 (GRCm39) W591R probably damaging Het
Tnxb A G 17: 34,902,548 (GRCm39) I1134V probably benign Het
Trappc14 T C 5: 138,260,739 (GRCm39) probably null Het
Trim13 G T 14: 61,843,068 (GRCm39) A362S probably benign Het
Trim47 T A 11: 116,000,646 (GRCm39) D134V probably damaging Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vnn1 G T 10: 23,775,415 (GRCm39) A222S possibly damaging Het
Wdr17 A G 8: 55,143,249 (GRCm39) W110R probably damaging Het
Wwp1 G T 4: 19,627,892 (GRCm39) Y700* probably null Het
Zbtb21 T C 16: 97,751,785 (GRCm39) S661G probably benign Het
Zfp955b A G 17: 33,521,788 (GRCm39) K419R 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
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'- AAACCGACATTGACCTGGCAGTAG -3'
(R):5'- ACTTAGTCAACAGTACCGTGACCCC -3'

Sequencing Primer
(F):5'- CATTGACCTGGCAGTAGATGAG -3'
(R):5'- AGGATGTTTGCCACAACCTG -3'
Posted On 2014-05-23