Incidental Mutation 'R8487:Adgrl2'
ID 657778
Institutional Source Beutler Lab
Gene Symbol Adgrl2
Ensembl Gene ENSMUSG00000028184
Gene Name adhesion G protein-coupled receptor L2
Synonyms Lphn2, Lphh1, Lec1
MMRRC Submission 067930-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8487 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 148521219-148696191 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148565122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 153 (I153V)
Ref Sequence ENSEMBL: ENSMUSP00000143320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106128] [ENSMUST00000195988] [ENSMUST00000196526] [ENSMUST00000197567] [ENSMUST00000198779] [ENSMUST00000199059] [ENSMUST00000199238] [ENSMUST00000199750] [ENSMUST00000200154] [ENSMUST00000200543]
AlphaFold Q8JZZ7
Predicted Effect probably benign
Transcript: ENSMUST00000106128
AA Change: I153V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101734
Gene: ENSMUSG00000028184
AA Change: I153V

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: ENSMUST00000195988
AA Change: I153V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143444
Gene: ENSMUSG00000028184
AA Change: I153V

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
AA Change: I149V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000143788
Gene: ENSMUSG00000028184
AA Change: I149V

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: ENSMUST00000197567
AA Change: I153V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143626
Gene: ENSMUSG00000028184
AA Change: I153V

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: ENSMUST00000198779
AA Change: I153V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000142347
Gene: ENSMUSG00000028184
AA Change: I153V

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: I153V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143150
Gene: ENSMUSG00000028184
AA Change: I153V

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: I153V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142405
Gene: ENSMUSG00000028184
AA Change: I153V

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: I153V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143320
Gene: ENSMUSG00000028184
AA Change: I153V

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
AA Change: I149V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000142865
Gene: ENSMUSG00000028184
AA Change: I149V

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: ENSMUST00000200543
AA Change: I149V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000142336
Gene: ENSMUSG00000028184
AA Change: I149V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A C 2: 20,886,116 (GRCm39) S354A probably benign Het
Bcan T C 3: 87,896,516 (GRCm39) T727A probably damaging Het
Brinp1 C T 4: 68,747,692 (GRCm39) G137E probably damaging Het
Catsperd A G 17: 56,970,419 (GRCm39) Y697C probably damaging Het
Ccdc39 T A 3: 33,886,808 (GRCm39) K267* probably null Het
Ccdc47 C A 11: 106,092,971 (GRCm39) V92L possibly damaging Het
Cyp2c54 A T 19: 40,059,990 (GRCm39) I181N probably damaging Het
Ddx60 A T 8: 62,427,184 (GRCm39) D753V probably damaging Het
Dlg2 A T 7: 91,935,796 (GRCm39) K641N probably damaging Het
Eloa G A 4: 135,736,668 (GRCm39) R527C probably benign Het
Fancd2 C T 6: 113,545,187 (GRCm39) P835L probably damaging Het
Fbln2 C G 6: 91,227,846 (GRCm39) T428S probably damaging Het
Fbn2 G A 18: 58,153,462 (GRCm39) A2600V possibly damaging Het
Gbe1 A G 16: 70,233,876 (GRCm39) Y251C probably damaging Het
Gnptab T A 10: 88,268,508 (GRCm39) probably null Het
Hspa1a T A 17: 35,191,033 (GRCm39) probably benign Het
Ifi204 G A 1: 173,587,839 (GRCm39) P107S probably damaging Het
Kif6 A G 17: 49,978,164 (GRCm39) I119V probably damaging Het
Lmntd2 G A 7: 140,790,427 (GRCm39) H554Y probably benign Het
Lrrc8e C A 8: 4,284,218 (GRCm39) H148N probably damaging Het
Lrriq1 T C 10: 103,050,914 (GRCm39) N613D probably damaging Het
Map4k4 C T 1: 40,028,136 (GRCm39) T319M probably damaging Het
Mbtps1 C T 8: 120,268,413 (GRCm39) V253I probably damaging Het
Mcm4 C A 16: 15,450,042 (GRCm39) C330F probably damaging Het
Mok A G 12: 110,776,341 (GRCm39) probably null Het
Nedd4 T C 9: 72,577,321 (GRCm39) C49R probably damaging Het
Nlrp4e T C 7: 23,020,983 (GRCm39) V490A probably benign Het
Nsf A T 11: 103,819,584 (GRCm39) F27I probably damaging Het
Or10g3b A T 14: 52,586,696 (GRCm39) L269Q probably damaging Het
Or14c44 A G 7: 86,061,647 (GRCm39) S26G probably benign Het
Or4a47 T C 2: 89,665,609 (GRCm39) N227D probably benign Het
Or5p73 G T 7: 108,064,784 (GRCm39) M84I possibly damaging Het
Or6c66 A G 10: 129,461,114 (GRCm39) I272T possibly damaging Het
Pax1 A G 2: 147,206,968 (GRCm39) M1V probably null Het
Pcdhga12 A G 18: 37,900,631 (GRCm39) T488A probably damaging Het
Plekhh2 A G 17: 84,864,909 (GRCm39) D99G possibly damaging Het
Polr3h T C 15: 81,800,824 (GRCm39) T173A probably benign Het
Pramel6 C T 2: 87,339,045 (GRCm39) L82F probably damaging Het
Ralgapa2 A T 2: 146,230,463 (GRCm39) I1034N probably damaging Het
Rbfox1 G A 16: 7,042,319 (GRCm39) V58I probably damaging Het
Reln T A 5: 22,104,027 (GRCm39) I3315L probably benign Het
Rev3l T A 10: 39,682,844 (GRCm39) S321T probably damaging Het
Ryr1 T C 7: 28,740,292 (GRCm39) T3908A probably damaging Het
Secisbp2l G T 2: 125,617,502 (GRCm39) Y58* probably null Het
Sgms1 C A 19: 32,102,697 (GRCm39) V337L probably benign Het
Slc38a2 G A 15: 96,593,172 (GRCm39) Q136* probably null Het
Smarcd1 T A 15: 99,605,657 (GRCm39) V296D probably damaging Het
Smcr8 A C 11: 60,674,822 (GRCm39) H866P probably damaging Het
Spcs1 T A 14: 30,722,721 (GRCm39) I33L probably benign Het
Stxbp5 T C 10: 9,688,033 (GRCm39) R423G possibly damaging Het
Syt4 A T 18: 31,576,790 (GRCm39) M188K possibly damaging Het
Tchhl1 A G 3: 93,376,869 (GRCm39) D22G probably damaging Het
Tiparp T A 3: 65,453,655 (GRCm39) N134K probably benign Het
Topaz1 A G 9: 122,579,001 (GRCm39) D637G possibly damaging Het
Trav14d-3-dv8 A T 14: 53,316,192 (GRCm39) probably benign Het
Vmn1r19 A T 6: 57,382,166 (GRCm39) M240L probably benign Het
Vmn1r77 T A 7: 11,775,514 (GRCm39) S29T probably damaging Het
Vps13d A G 4: 144,881,817 (GRCm39) F1253L probably benign Het
Zfp407 G A 18: 84,580,895 (GRCm39) R73* probably null Het
Zfp446 T A 7: 12,716,555 (GRCm39) F334I possibly damaging Het
Zfp654 A T 16: 64,606,011 (GRCm39) Y730* 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
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
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'- CCGTCTACTCGGTTTGGAAG -3'
(R):5'- AGCCACTATGTTTGCTGGTGTC -3'

Sequencing Primer
(F):5'- CTACTCGGTTTGGAAGTTTGTATG -3'
(R):5'- ATGCGATGACTTGTGTCT -3'
Posted On 2021-01-18