Incidental Mutation 'PIT4382001:Adgrl2'
ID 554671
Institutional Source Beutler Lab
Gene Symbol Adgrl2
Ensembl Gene ENSMUSG00000028184
Gene Name adhesion G protein-coupled receptor L2
Synonyms Lec1, Lphn2, Lphh1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4382001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 148815583-148990555 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148817298 bp (GRCm38)
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: 92.9%
  • 3x: 90.5%
  • 10x: 84.6%
  • 20x: 72.3%
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. 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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik G T 7: 137,376,982 (GRCm38) H144N unknown Het
Acsm4 C T 7: 119,698,575 (GRCm38) T145M probably damaging Het
Adam10 T C 9: 70,766,081 (GRCm38) L498P probably damaging Het
Alk T C 17: 71,949,921 (GRCm38) M648V probably benign Het
Arhgap35 T C 7: 16,563,869 (GRCm38) R424G possibly damaging Het
Baiap2l1 T C 5: 144,278,670 (GRCm38) K342E possibly damaging Het
Ccdc54 C T 16: 50,590,856 (GRCm38) V16M probably damaging Het
Chil3 T G 3: 106,148,659 (GRCm38) D366A probably damaging Het
Chuk A G 19: 44,098,607 (GRCm38) V151A probably damaging Het
Cpd T G 11: 76,797,788 (GRCm38) H886P probably benign Het
Cped1 T A 6: 22,222,450 (GRCm38) C736* probably null Het
Creb3l3 T C 10: 81,084,912 (GRCm38) E428G probably benign Het
Csad G A 15: 102,188,650 (GRCm38) L7F probably benign Het
Dnah1 C T 14: 31,284,455 (GRCm38) D2255N probably damaging Het
Dnajb12 T C 10: 59,892,686 (GRCm38) Y159H probably damaging Het
Dpysl4 T A 7: 139,089,578 (GRCm38) Y57* probably null Het
F2rl1 T G 13: 95,513,646 (GRCm38) N243H probably benign Het
Fhl4 T C 10: 85,098,429 (GRCm38) K163E possibly damaging Het
Flot2 T C 11: 78,053,367 (GRCm38) S46P possibly damaging Het
Fsip2 C A 2: 82,990,852 (GRCm38) T5643K possibly damaging Het
Gm853 A T 4: 130,219,161 (GRCm38) N147K possibly damaging Het
Gm8765 A T 13: 50,700,971 (GRCm38) E215V probably damaging Het
Golga4 T A 9: 118,553,453 (GRCm38) Y542N possibly damaging Het
Il17re A G 6: 113,469,077 (GRCm38) T426A probably benign Het
Kdm2a T A 19: 4,343,173 (GRCm38) M385L probably benign Het
Kdm3b T C 18: 34,809,087 (GRCm38) S744P probably damaging Het
Krtap6-3 T A 16: 89,084,160 (GRCm38) Y26* probably null Het
Lama2 T C 10: 27,204,905 (GRCm38) D974G probably damaging Het
Lipo5 A T 19: 33,465,939 (GRCm38) L159Q probably null Het
Mau2 C T 8: 70,030,652 (GRCm38) E187K possibly damaging Het
Mrpl9 T C 3: 94,447,829 (GRCm38) L236P probably benign Het
Mta1 A G 12: 113,133,250 (GRCm38) T564A probably benign Het
Mylk C T 16: 34,875,642 (GRCm38) S249L probably damaging Het
Ncor1 G T 11: 62,344,663 (GRCm38) T331K probably damaging Het
Nsun3 T A 16: 62,785,865 (GRCm38) K15N probably damaging Het
Nsun5 A G 5: 135,371,501 (GRCm38) Y132C probably benign Het
Obsl1 T A 1: 75,487,963 (GRCm38) T1605S probably benign Het
Olfr1463 T C 19: 13,234,895 (GRCm38) I215T probably damaging Het
Olfr519 A G 7: 108,894,102 (GRCm38) Y107H probably damaging Het
Olfr566 A G 7: 102,856,602 (GRCm38) Y227H probably damaging Het
Olfr574 A T 7: 102,949,449 (GRCm38) Y328F probably benign Het
Oraov1 T A 7: 144,916,444 (GRCm38) Y37N probably damaging Het
P2rx1 A G 11: 73,009,200 (GRCm38) N148D probably benign Het
Pogz T A 3: 94,879,796 (GRCm38) S1232T probably damaging Het
Polr3b C A 10: 84,684,185 (GRCm38) T655N probably damaging Het
Prss34 T C 17: 25,298,908 (GRCm38) probably null Het
Rhpn2 A G 7: 35,390,753 (GRCm38) probably null Het
Runx1 T A 16: 92,613,760 (GRCm38) D256V probably damaging Het
Shc1 C A 3: 89,427,408 (GRCm38) Q525K probably benign Het
Slc10a5 T C 3: 10,335,447 (GRCm38) D51G probably benign Het
Slc6a3 A T 13: 73,571,523 (GRCm38) N557I probably benign Het
Slmap C T 14: 26,533,431 (GRCm38) R32H probably damaging Het
Spata31d1c T C 13: 65,036,171 (GRCm38) I509T probably benign Het
Srr C A 11: 74,910,308 (GRCm38) V138F probably benign Het
Tas2r118 G A 6: 23,969,786 (GRCm38) T92I possibly damaging Het
Tcaf2 A T 6: 42,624,366 (GRCm38) *920K probably null Het
Tenm2 T A 11: 36,063,902 (GRCm38) Y1141F probably damaging Het
Thoc6 T C 17: 23,668,867 (GRCm38) N322S probably benign Het
Tlcd2 A G 11: 75,468,591 (GRCm38) I70V probably benign Het
Tmem214 A G 5: 30,871,451 (GRCm38) D128G possibly damaging Het
Trav13-4-dv7 T C 14: 53,757,781 (GRCm38) V64A probably benign Het
Tyro3 T C 2: 119,802,364 (GRCm38) W122R probably damaging Het
Ugcg A G 4: 59,213,246 (GRCm38) D144G possibly damaging Het
Uimc1 T C 13: 55,031,015 (GRCm38) D627G probably benign Het
Utp6 T C 11: 79,962,273 (GRCm38) I13V probably benign Het
Vmn2r99 A G 17: 19,394,343 (GRCm38) K775R probably damaging Het
Wdfy3 CG C 5: 101,882,961 (GRCm38) probably null Het
Zw10 C T 9: 49,071,644 (GRCm38) T525I probably benign Het
Other mutations in Adgrl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Adgrl2 APN 3 148,865,608 (GRCm38) missense probably damaging 0.99
IGL00572:Adgrl2 APN 3 148,826,498 (GRCm38) missense probably damaging 1.00
IGL01624:Adgrl2 APN 3 148,836,527 (GRCm38) missense probably damaging 1.00
IGL01796:Adgrl2 APN 3 148,858,975 (GRCm38) missense probably damaging 1.00
IGL02380:Adgrl2 APN 3 148,828,489 (GRCm38) nonsense probably null
IGL02468:Adgrl2 APN 3 148,890,480 (GRCm38) missense probably damaging 1.00
IGL02708:Adgrl2 APN 3 148,826,525 (GRCm38) missense probably damaging 0.96
IGL02869:Adgrl2 APN 3 148,890,605 (GRCm38) missense probably damaging 1.00
IGL03248:Adgrl2 APN 3 148,817,400 (GRCm38) missense probably damaging 1.00
IGL03343:Adgrl2 APN 3 148,859,380 (GRCm38) missense probably damaging 0.98
P0157:Adgrl2 UTSW 3 148,859,063 (GRCm38) missense probably damaging 1.00
PIT4544001:Adgrl2 UTSW 3 148,890,521 (GRCm38) missense probably damaging 1.00
R0165:Adgrl2 UTSW 3 148,852,863 (GRCm38) splice site probably benign
R0242:Adgrl2 UTSW 3 148,839,185 (GRCm38) splice site probably null
R0242:Adgrl2 UTSW 3 148,839,185 (GRCm38) splice site probably null
R0344:Adgrl2 UTSW 3 148,865,595 (GRCm38) splice site probably null
R0488:Adgrl2 UTSW 3 148,846,905 (GRCm38) missense probably damaging 1.00
R0542:Adgrl2 UTSW 3 148,859,218 (GRCm38) missense probably damaging 1.00
R0630:Adgrl2 UTSW 3 148,839,244 (GRCm38) missense probably damaging 0.98
R0674:Adgrl2 UTSW 3 148,837,679 (GRCm38) missense possibly damaging 0.91
R1401:Adgrl2 UTSW 3 148,822,981 (GRCm38) missense probably damaging 0.99
R1543:Adgrl2 UTSW 3 148,859,273 (GRCm38) missense probably damaging 1.00
R1575:Adgrl2 UTSW 3 148,852,762 (GRCm38) missense probably benign 0.17
R1645:Adgrl2 UTSW 3 148,865,608 (GRCm38) missense probably damaging 1.00
R1780:Adgrl2 UTSW 3 148,852,593 (GRCm38) missense probably damaging 1.00
R1992:Adgrl2 UTSW 3 148,817,244 (GRCm38) missense possibly damaging 0.89
R2014:Adgrl2 UTSW 3 148,826,475 (GRCm38) missense probably damaging 1.00
R2130:Adgrl2 UTSW 3 148,890,488 (GRCm38) missense probably damaging 0.99
R2131:Adgrl2 UTSW 3 148,890,488 (GRCm38) missense probably damaging 0.99
R2400:Adgrl2 UTSW 3 148,851,934 (GRCm38) missense probably damaging 1.00
R2997:Adgrl2 UTSW 3 148,817,649 (GRCm38) missense probably damaging 1.00
R3161:Adgrl2 UTSW 3 148,817,551 (GRCm38) missense probably damaging 1.00
R3416:Adgrl2 UTSW 3 148,859,329 (GRCm38) missense probably damaging 1.00
R3417:Adgrl2 UTSW 3 148,859,329 (GRCm38) missense probably damaging 1.00
R3551:Adgrl2 UTSW 3 148,858,963 (GRCm38) missense probably damaging 1.00
R3760:Adgrl2 UTSW 3 148,817,235 (GRCm38) missense probably damaging 1.00
R4355:Adgrl2 UTSW 3 148,839,152 (GRCm38) missense probably damaging 1.00
R4850:Adgrl2 UTSW 3 148,859,020 (GRCm38) missense probably damaging 1.00
R4911:Adgrl2 UTSW 3 148,890,463 (GRCm38) missense probably damaging 0.99
R4945:Adgrl2 UTSW 3 148,823,036 (GRCm38) missense probably damaging 0.99
R5313:Adgrl2 UTSW 3 148,823,713 (GRCm38) missense probably damaging 1.00
R5339:Adgrl2 UTSW 3 148,817,844 (GRCm38) missense probably benign 0.01
R5540:Adgrl2 UTSW 3 148,837,562 (GRCm38) critical splice donor site probably null
R5583:Adgrl2 UTSW 3 148,859,164 (GRCm38) missense probably damaging 1.00
R5890:Adgrl2 UTSW 3 148,859,175 (GRCm38) missense probably damaging 1.00
R6170:Adgrl2 UTSW 3 148,823,009 (GRCm38) missense probably damaging 1.00
R6197:Adgrl2 UTSW 3 148,858,942 (GRCm38) missense probably damaging 1.00
R6284:Adgrl2 UTSW 3 148,826,507 (GRCm38) missense probably damaging 1.00
R6877:Adgrl2 UTSW 3 148,817,286 (GRCm38) missense probably damaging 1.00
R7048:Adgrl2 UTSW 3 148,846,929 (GRCm38) missense probably damaging 1.00
R7205:Adgrl2 UTSW 3 148,858,949 (GRCm38) missense probably damaging 1.00
R7326:Adgrl2 UTSW 3 148,846,870 (GRCm38) missense probably benign 0.00
R7348:Adgrl2 UTSW 3 148,817,766 (GRCm38) missense
R7382:Adgrl2 UTSW 3 148,817,283 (GRCm38) missense
R7486:Adgrl2 UTSW 3 148,817,694 (GRCm38) missense
R7498:Adgrl2 UTSW 3 148,859,216 (GRCm38) nonsense probably null
R7644:Adgrl2 UTSW 3 148,839,153 (GRCm38) missense probably damaging 1.00
R7690:Adgrl2 UTSW 3 148,817,298 (GRCm38) missense
R7742:Adgrl2 UTSW 3 148,836,428 (GRCm38) missense probably damaging 1.00
R7745:Adgrl2 UTSW 3 148,836,458 (GRCm38) missense probably damaging 1.00
R8291:Adgrl2 UTSW 3 148,850,918 (GRCm38) missense possibly damaging 0.93
R8326:Adgrl2 UTSW 3 148,827,554 (GRCm38) missense
R8343:Adgrl2 UTSW 3 148,846,906 (GRCm38) missense probably damaging 1.00
R8344:Adgrl2 UTSW 3 148,859,525 (GRCm38) missense probably damaging 0.98
R8487:Adgrl2 UTSW 3 148,859,486 (GRCm38) missense probably benign 0.06
R8748:Adgrl2 UTSW 3 148,826,390 (GRCm38) missense
R8769:Adgrl2 UTSW 3 148,817,281 (GRCm38) missense
R8804:Adgrl2 UTSW 3 148,847,016 (GRCm38) missense probably damaging 1.00
R8911:Adgrl2 UTSW 3 148,852,527 (GRCm38) intron probably benign
R8943:Adgrl2 UTSW 3 148,828,483 (GRCm38) missense probably damaging 1.00
R8977:Adgrl2 UTSW 3 148,954,587 (GRCm38) missense probably null
R9030:Adgrl2 UTSW 3 148,839,125 (GRCm38) missense possibly damaging 0.74
R9105:Adgrl2 UTSW 3 148,837,653 (GRCm38) missense possibly damaging 0.82
R9427:Adgrl2 UTSW 3 148,820,432 (GRCm38) missense
R9471:Adgrl2 UTSW 3 148,852,729 (GRCm38) missense probably benign
R9646:Adgrl2 UTSW 3 148,839,290 (GRCm38) missense probably damaging 0.96
R9742:Adgrl2 UTSW 3 148,836,350 (GRCm38) critical splice donor site probably null
RF007:Adgrl2 UTSW 3 148,839,248 (GRCm38) missense probably damaging 1.00
X0009:Adgrl2 UTSW 3 148,852,654 (GRCm38) missense probably damaging 1.00
X0019:Adgrl2 UTSW 3 148,865,594 (GRCm38) splice site probably null
Predicted Primers PCR Primer
(F):5'- GCAGCGTCTCTATCAATTAATACTTGC -3'
(R):5'- AGGCAACAGACAGCTACGTC -3'

Sequencing Primer
(F):5'- AATACTTGCATGTGGCCCTAG -3'
(R):5'- AGCTACGTCTCCCAGCTGAC -3'
Posted On 2019-06-07