Incidental Mutation 'R3161:Adgrl2'
ID 258155
Institutional Source Beutler Lab
Gene Symbol Adgrl2
Ensembl Gene ENSMUSG00000028184
Gene Name adhesion G protein-coupled receptor L2
Synonyms Lphn2, Lphh1, Lec1
MMRRC Submission 040612-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3161 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 148521219-148696191 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 148523187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 1354 (L1354F)
Ref Sequence ENSEMBL: ENSMUSP00000142405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106128] [ENSMUST00000168352] [ENSMUST00000195988] [ENSMUST00000196526] [ENSMUST00000197567] [ENSMUST00000199238] [ENSMUST00000198779] [ENSMUST00000199059] [ENSMUST00000199750] [ENSMUST00000200543] [ENSMUST00000200154]
AlphaFold Q8JZZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000106128
AA Change: L1363F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101734
Gene: ENSMUSG00000028184
AA Change: L1363F

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 damaging
Transcript: ENSMUST00000168352
AA Change: L115F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132116
Gene: ENSMUSG00000028184
AA Change: L115F

DomainStartEndE-ValueType
Pfam:Latrophilin 1 239 2.5e-122 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195988
AA Change: L1311F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143444
Gene: ENSMUSG00000028184
AA Change: L1311F

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 damaging
Transcript: ENSMUST00000197567
AA Change: L1363F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143626
Gene: ENSMUSG00000028184
AA Change: L1363F

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 probably damaging
Transcript: ENSMUST00000199238
AA Change: L1354F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142405
Gene: ENSMUSG00000028184
AA Change: L1354F

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 damaging
Transcript: ENSMUST00000198779
AA Change: L1328F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142347
Gene: ENSMUSG00000028184
AA Change: L1328F

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 damaging
Transcript: ENSMUST00000199059
AA Change: L1343F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143150
Gene: ENSMUSG00000028184
AA Change: L1343F

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: ENSMUST00000199750
AA Change: L1217F

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143320
Gene: ENSMUSG00000028184
AA Change: L1217F

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 possibly damaging
Transcript: ENSMUST00000200543
AA Change: L1279F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142336
Gene: ENSMUSG00000028184
AA Change: L1279F

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
Predicted Effect unknown
Transcript: ENSMUST00000198139
AA Change: L346F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200023
Predicted Effect probably benign
Transcript: ENSMUST00000200216
Predicted Effect probably benign
Transcript: ENSMUST00000200456
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
Meta Mutation Damage Score 0.0758 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
1700066M21Rik T A 1: 57,422,234 (GRCm39) N203K probably benign Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Aox1 G T 1: 58,343,597 (GRCm39) V427L possibly damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
Bptf A T 11: 106,965,302 (GRCm39) D1182E probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Chct1 A G 11: 85,064,110 (GRCm39) S84G probably damaging Het
Ciz1 A G 2: 32,260,075 (GRCm39) D207G probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crabp2 A T 3: 87,859,484 (GRCm39) K45* probably null Het
Daam1 C A 12: 71,993,872 (GRCm39) T425K unknown Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dlg4 G C 11: 69,908,051 (GRCm39) R4T probably damaging Het
Fbf1 A G 11: 116,039,046 (GRCm39) I743T probably damaging Het
Fen1 A G 19: 10,177,655 (GRCm39) L263P probably damaging Het
G6pc2 A G 2: 69,050,456 (GRCm39) N27S probably damaging Het
Garnl3 A T 2: 32,924,723 (GRCm39) N246K probably damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Gpr152 A G 19: 4,192,713 (GRCm39) T85A probably benign Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Ighv1-81 C G 12: 115,883,949 (GRCm39) E101Q probably benign Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Myo9a C T 9: 59,739,598 (GRCm39) probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or5an1c T C 19: 12,218,860 (GRCm39) H55R probably benign Het
Or6d13 C T 6: 116,517,807 (GRCm39) A131V probably damaging Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Phyh T A 2: 4,942,482 (GRCm39) probably benign Het
Pkp4 G T 2: 59,138,449 (GRCm39) R233M probably damaging Het
Plcb1 A T 2: 135,177,402 (GRCm39) Q578L probably benign Het
Ppil3 A T 1: 58,473,573 (GRCm39) N92K probably benign Het
Prokr1 C T 6: 87,565,413 (GRCm39) R144H probably damaging Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Sult2a4 T C 7: 13,723,396 (GRCm39) T40A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Ttn A G 2: 76,663,581 (GRCm39) probably benign Het
Vmn2r115 T A 17: 23,575,998 (GRCm39) M532K possibly damaging Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wipf1 C T 2: 73,265,293 (GRCm39) E437K probably damaging Het
Wls G T 3: 159,603,073 (GRCm39) C162F probably damaging Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zfp868 A G 8: 70,064,736 (GRCm39) S200P probably benign 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
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
R7690:Adgrl2 UTSW 3 148,522,934 (GRCm39) missense
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'- TAGCACATGTGGAGATGGCG -3'
(R):5'- GTTAGTGCACAACAACCTCCGG -3'

Sequencing Primer
(F):5'- CCAAGGTTGGGCATACTTTTATAG -3'
(R):5'- GGGGCGGCAACAAAACCC -3'
Posted On 2015-01-23