Incidental Mutation 'R7690:Adgrl2'
ID 593321
Institutional Source Beutler Lab
Gene Symbol Adgrl2
Ensembl Gene ENSMUSG00000028184
Gene Name adhesion G protein-coupled receptor L2
Synonyms Lphn2, Lphh1, Lec1
MMRRC Submission 045754-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 148521219-148696191 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148522934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 430 (L430P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106128] [ENSMUST00000168352] [ENSMUST00000195988] [ENSMUST00000196526] [ENSMUST00000197567] [ENSMUST00000198779] [ENSMUST00000199059] [ENSMUST00000199238] [ENSMUST00000199750] [ENSMUST00000200154] [ENSMUST00000200543]
AlphaFold Q8JZZ7
Predicted Effect probably benign
Transcript: ENSMUST00000106128
AA Change: L1447P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101734
Gene: ENSMUSG00000028184
AA Change: L1447P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 2.5e-26 PFAM
OLF 142 398 5.22e-140 SMART
HormR 469 534 3.14e-20 SMART
Pfam:GAIN 537 764 1.3e-58 PFAM
GPS 788 840 3.47e-25 SMART
Pfam:7tm_2 848 1108 4.6e-69 PFAM
Pfam:Latrophilin 1128 1487 6.4e-181 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168352
AA Change: L199P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132116
Gene: ENSMUSG00000028184
AA Change: L199P

DomainStartEndE-ValueType
Pfam:Latrophilin 1 239 2.5e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195988
AA Change: L1395P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143444
Gene: ENSMUSG00000028184
AA Change: L1395P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 3.3e-23 PFAM
OLF 142 398 3.3e-142 SMART
HormR 469 534 2e-22 SMART
GPS 788 840 2.1e-27 SMART
Pfam:7tm_2 848 1099 8.1e-66 PFAM
Pfam:Latrophilin 1119 1189 2.2e-28 PFAM
Pfam:Latrophilin 1184 1435 5.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196526
SMART Domains Protein: ENSMUSP00000143788
Gene: ENSMUSG00000028184

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 8.7e-24 PFAM
OLF 138 394 3.4e-142 SMART
HormR 465 530 2e-22 SMART
Pfam:GAIN 533 747 1.1e-54 PFAM
GPS 771 823 2.2e-27 SMART
Pfam:7tm_2 831 1067 6.5e-68 PFAM
Pfam:Latrophilin 1087 1158 9.9e-36 PFAM
low complexity region 1163 1173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197348
Predicted Effect probably benign
Transcript: ENSMUST00000197567
AA Change: L1447P

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143626
Gene: ENSMUSG00000028184
AA Change: L1447P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 1.9e-26 PFAM
OLF 142 398 5.22e-140 SMART
HormR 469 534 3.14e-20 SMART
Pfam:GAIN 537 764 1.1e-58 PFAM
GPS 788 840 3.47e-25 SMART
Pfam:7tm_2 848 1108 6.4e-69 PFAM
Pfam:Latrophilin 1128 1487 2.8e-181 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197925
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000198779
AA Change: L1412P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142347
Gene: ENSMUSG00000028184
AA Change: L1412P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 3.4e-23 PFAM
OLF 142 398 3.3e-142 SMART
HormR 469 534 2e-22 SMART
GPS 788 840 2.1e-27 SMART
Pfam:7tm_2 848 1084 1.8e-66 PFAM
Pfam:Latrophilin 1104 1452 7e-174 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199059
AA Change: L1427P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143150
Gene: ENSMUSG00000028184
AA Change: L1427P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 3.4e-23 PFAM
OLF 142 398 3.3e-142 SMART
HormR 469 534 2e-22 SMART
GPS 788 840 2.1e-27 SMART
Pfam:7tm_2 848 1099 8.3e-66 PFAM
Pfam:Latrophilin 1119 1467 7.1e-174 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199238
AA Change: L1438P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142405
Gene: ENSMUSG00000028184
AA Change: L1438P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 3.4e-23 PFAM
OLF 142 398 3.3e-142 SMART
HormR 469 534 2e-22 SMART
GPS 788 840 2.1e-27 SMART
Pfam:7tm_2 848 1099 8.4e-66 PFAM
Pfam:Latrophilin 1119 1478 1.6e-187 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199750
AA Change: L1301P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143320
Gene: ENSMUSG00000028184
AA Change: L1301P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 3.1e-23 PFAM
OLF 142 398 3.3e-142 SMART
HormR 403 468 1.9e-22 SMART
GPS 709 761 2.1e-27 SMART
Pfam:7tm_2 769 1005 1.6e-66 PFAM
Pfam:Latrophilin 1025 1095 2e-28 PFAM
Pfam:Latrophilin 1090 1341 4.9e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200154
SMART Domains Protein: ENSMUSP00000142865
Gene: ENSMUSG00000028184

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 2.5e-23 PFAM
OLF 138 394 3.3e-142 SMART
HormR 465 530 2e-22 SMART
GPS 771 823 2.1e-27 SMART
Pfam:7tm_2 831 1067 1.2e-66 PFAM
Pfam:Latrophilin 1087 1123 2.2e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200216
Predicted Effect probably benign
Transcript: ENSMUST00000200456
Predicted Effect probably benign
Transcript: ENSMUST00000200543
AA Change: L1363P

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142336
Gene: ENSMUSG00000028184
AA Change: L1363P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Gal_Lectin 49 129 3.2e-23 PFAM
OLF 138 394 3.3e-142 SMART
HormR 465 530 2e-22 SMART
GPS 771 823 2.1e-27 SMART
Pfam:7tm_2 831 1067 1.7e-66 PFAM
Pfam:Latrophilin 1087 1157 2.1e-28 PFAM
Pfam:Latrophilin 1152 1403 5.3e-123 PFAM
Meta Mutation Damage Score 0.4185 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
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. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice die prenatally at fetal stages. Heterozygous mice exhibit decreased locomotor activity in an open field test. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Fpgt A G 3: 154,793,467 (GRCm39) S187P probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gclm A G 3: 122,039,705 (GRCm39) N24S probably damaging Het
Gdf15 A G 8: 71,083,997 (GRCm39) I89T possibly damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Iars2 A T 1: 185,053,194 (GRCm39) L359Q probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Nlrp9b C A 7: 19,758,295 (GRCm39) P511T probably benign Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Pomt2 C A 12: 87,177,141 (GRCm39) R352L probably damaging Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Slc4a5 T C 6: 83,262,854 (GRCm39) F782S probably damaging Het
Snap91 A G 9: 86,707,031 (GRCm39) V253A possibly damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Uck1 A G 2: 32,148,184 (GRCm39) V180A probably benign Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) probably null Het
Other mutations in Adgrl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Adgrl2 APN 3 148,571,244 (GRCm39) missense probably damaging 0.99
IGL00572:Adgrl2 APN 3 148,532,134 (GRCm39) missense probably damaging 1.00
IGL01624:Adgrl2 APN 3 148,542,163 (GRCm39) missense probably damaging 1.00
IGL01796:Adgrl2 APN 3 148,564,611 (GRCm39) missense probably damaging 1.00
IGL02380:Adgrl2 APN 3 148,534,125 (GRCm39) nonsense probably null
IGL02468:Adgrl2 APN 3 148,596,116 (GRCm39) missense probably damaging 1.00
IGL02708:Adgrl2 APN 3 148,532,161 (GRCm39) missense probably damaging 0.96
IGL02869:Adgrl2 APN 3 148,596,241 (GRCm39) missense probably damaging 1.00
IGL03248:Adgrl2 APN 3 148,523,036 (GRCm39) missense probably damaging 1.00
IGL03343:Adgrl2 APN 3 148,565,016 (GRCm39) missense probably damaging 0.98
P0157:Adgrl2 UTSW 3 148,564,699 (GRCm39) missense probably damaging 1.00
PIT4382001:Adgrl2 UTSW 3 148,522,934 (GRCm39) missense
PIT4544001:Adgrl2 UTSW 3 148,596,157 (GRCm39) missense probably damaging 1.00
R0165:Adgrl2 UTSW 3 148,558,499 (GRCm39) splice site probably benign
R0242:Adgrl2 UTSW 3 148,544,821 (GRCm39) splice site probably null
R0242:Adgrl2 UTSW 3 148,544,821 (GRCm39) splice site probably null
R0344:Adgrl2 UTSW 3 148,571,231 (GRCm39) splice site probably null
R0488:Adgrl2 UTSW 3 148,552,541 (GRCm39) missense probably damaging 1.00
R0542:Adgrl2 UTSW 3 148,564,854 (GRCm39) missense probably damaging 1.00
R0630:Adgrl2 UTSW 3 148,544,880 (GRCm39) missense probably damaging 0.98
R0674:Adgrl2 UTSW 3 148,543,315 (GRCm39) missense possibly damaging 0.91
R1401:Adgrl2 UTSW 3 148,528,617 (GRCm39) missense probably damaging 0.99
R1543:Adgrl2 UTSW 3 148,564,909 (GRCm39) missense probably damaging 1.00
R1575:Adgrl2 UTSW 3 148,558,398 (GRCm39) missense probably benign 0.17
R1645:Adgrl2 UTSW 3 148,571,244 (GRCm39) missense probably damaging 1.00
R1780:Adgrl2 UTSW 3 148,558,229 (GRCm39) missense probably damaging 1.00
R1992:Adgrl2 UTSW 3 148,522,880 (GRCm39) missense possibly damaging 0.89
R2014:Adgrl2 UTSW 3 148,532,111 (GRCm39) missense probably damaging 1.00
R2130:Adgrl2 UTSW 3 148,596,124 (GRCm39) missense probably damaging 0.99
R2131:Adgrl2 UTSW 3 148,596,124 (GRCm39) missense probably damaging 0.99
R2400:Adgrl2 UTSW 3 148,557,570 (GRCm39) missense probably damaging 1.00
R2997:Adgrl2 UTSW 3 148,523,285 (GRCm39) missense probably damaging 1.00
R3161:Adgrl2 UTSW 3 148,523,187 (GRCm39) missense probably damaging 1.00
R3416:Adgrl2 UTSW 3 148,564,965 (GRCm39) missense probably damaging 1.00
R3417:Adgrl2 UTSW 3 148,564,965 (GRCm39) missense probably damaging 1.00
R3551:Adgrl2 UTSW 3 148,564,599 (GRCm39) missense probably damaging 1.00
R3760:Adgrl2 UTSW 3 148,522,871 (GRCm39) missense probably damaging 1.00
R4355:Adgrl2 UTSW 3 148,544,788 (GRCm39) missense probably damaging 1.00
R4850:Adgrl2 UTSW 3 148,564,656 (GRCm39) missense probably damaging 1.00
R4911:Adgrl2 UTSW 3 148,596,099 (GRCm39) missense probably damaging 0.99
R4945:Adgrl2 UTSW 3 148,528,672 (GRCm39) missense probably damaging 0.99
R5313:Adgrl2 UTSW 3 148,529,349 (GRCm39) missense probably damaging 1.00
R5339:Adgrl2 UTSW 3 148,523,480 (GRCm39) missense probably benign 0.01
R5540:Adgrl2 UTSW 3 148,543,198 (GRCm39) critical splice donor site probably null
R5583:Adgrl2 UTSW 3 148,564,800 (GRCm39) missense probably damaging 1.00
R5890:Adgrl2 UTSW 3 148,564,811 (GRCm39) missense probably damaging 1.00
R6170:Adgrl2 UTSW 3 148,528,645 (GRCm39) missense probably damaging 1.00
R6197:Adgrl2 UTSW 3 148,564,578 (GRCm39) missense probably damaging 1.00
R6284:Adgrl2 UTSW 3 148,532,143 (GRCm39) missense probably damaging 1.00
R6877:Adgrl2 UTSW 3 148,522,922 (GRCm39) missense probably damaging 1.00
R7048:Adgrl2 UTSW 3 148,552,565 (GRCm39) missense probably damaging 1.00
R7205:Adgrl2 UTSW 3 148,564,585 (GRCm39) missense probably damaging 1.00
R7326:Adgrl2 UTSW 3 148,552,506 (GRCm39) missense probably benign 0.00
R7348:Adgrl2 UTSW 3 148,523,402 (GRCm39) missense
R7382:Adgrl2 UTSW 3 148,522,919 (GRCm39) missense
R7486:Adgrl2 UTSW 3 148,523,330 (GRCm39) missense
R7498:Adgrl2 UTSW 3 148,564,852 (GRCm39) nonsense probably null
R7644:Adgrl2 UTSW 3 148,544,789 (GRCm39) missense probably damaging 1.00
R7742:Adgrl2 UTSW 3 148,542,064 (GRCm39) missense probably damaging 1.00
R7745:Adgrl2 UTSW 3 148,542,094 (GRCm39) missense probably damaging 1.00
R8291:Adgrl2 UTSW 3 148,556,554 (GRCm39) missense possibly damaging 0.93
R8326:Adgrl2 UTSW 3 148,533,190 (GRCm39) missense
R8343:Adgrl2 UTSW 3 148,552,542 (GRCm39) missense probably damaging 1.00
R8344:Adgrl2 UTSW 3 148,565,161 (GRCm39) missense probably damaging 0.98
R8487:Adgrl2 UTSW 3 148,565,122 (GRCm39) missense probably benign 0.06
R8748:Adgrl2 UTSW 3 148,532,026 (GRCm39) missense
R8769:Adgrl2 UTSW 3 148,522,917 (GRCm39) missense
R8804:Adgrl2 UTSW 3 148,552,652 (GRCm39) missense probably damaging 1.00
R8911:Adgrl2 UTSW 3 148,558,163 (GRCm39) intron probably benign
R8943:Adgrl2 UTSW 3 148,534,119 (GRCm39) missense probably damaging 1.00
R8977:Adgrl2 UTSW 3 148,660,223 (GRCm39) missense probably null
R9030:Adgrl2 UTSW 3 148,544,761 (GRCm39) missense possibly damaging 0.74
R9105:Adgrl2 UTSW 3 148,543,289 (GRCm39) missense possibly damaging 0.82
R9427:Adgrl2 UTSW 3 148,526,068 (GRCm39) missense
R9471:Adgrl2 UTSW 3 148,558,365 (GRCm39) missense probably benign
R9646:Adgrl2 UTSW 3 148,544,926 (GRCm39) missense probably damaging 0.96
R9742:Adgrl2 UTSW 3 148,541,986 (GRCm39) critical splice donor site probably null
RF007:Adgrl2 UTSW 3 148,544,884 (GRCm39) missense probably damaging 1.00
X0009:Adgrl2 UTSW 3 148,558,290 (GRCm39) missense probably damaging 1.00
X0019:Adgrl2 UTSW 3 148,571,230 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GCAGCGTCTCTATCAATTAATACTTGC -3'
(R):5'- GCAACAGACAGCTACGTCTC -3'

Sequencing Primer
(F):5'- AATACTTGCATGTGGCCCTAG -3'
(R):5'- AGCTACGTCTCCCAGCTGAC -3'
Posted On 2019-11-12