Incidental Mutation 'R5522:Adgrl1'
ID 431619
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 043081-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5522 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84626734-84668583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84649704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 121 (Y121H)
Ref Sequence ENSEMBL: ENSMUSP00000116064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045393] [ENSMUST00000124355] [ENSMUST00000131717] [ENSMUST00000132500] [ENSMUST00000141158] [ENSMUST00000152978]
AlphaFold Q80TR1
Predicted Effect possibly damaging
Transcript: ENSMUST00000045393
AA Change: Y121H

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: Y121H

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 possibly damaging
Transcript: ENSMUST00000124355
AA Change: Y121H

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116064
Gene: ENSMUSG00000013033
AA Change: Y121H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Gal_Lectin 48 128 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131717
SMART Domains Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033

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 benign
Transcript: ENSMUST00000132500
AA Change: Y121H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: Y121H

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 benign
Transcript: ENSMUST00000141158
AA Change: Y121H

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: Y121H

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 probably benign
Transcript: ENSMUST00000152978
AA Change: Y121H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: Y121H

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 93.9%
  • 20x: 85.3%
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 (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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Atp13a2 T A 4: 140,731,671 (GRCm39) probably null Het
Cd69 A T 6: 129,248,379 (GRCm39) S36T probably damaging Het
Ceacam5 A T 7: 17,449,005 (GRCm39) I124L probably benign Het
Cerkl T C 2: 79,223,328 (GRCm39) H131R probably benign Het
Cfap57 A T 4: 118,453,085 (GRCm39) N539K probably benign Het
Cyp4x1 C A 4: 114,979,174 (GRCm39) W141L probably damaging Het
Dlgap1 T C 17: 70,823,993 (GRCm39) probably null Het
Dnaaf9 G A 2: 130,656,222 (GRCm39) probably benign Het
Dst T C 1: 34,296,954 (GRCm39) I5781T possibly damaging Het
Epha2 T A 4: 141,035,867 (GRCm39) V101E probably damaging Het
Exph5 T C 9: 53,285,613 (GRCm39) F898S possibly damaging Het
Fyco1 G A 9: 123,623,836 (GRCm39) R1398* probably null Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Grb10 T C 11: 11,886,746 (GRCm39) I508V probably benign Het
Igf1r C A 7: 67,833,258 (GRCm39) Q473K probably damaging Het
Ighv1-66 T A 12: 115,556,755 (GRCm39) D109V probably damaging Het
Ipmk C A 10: 71,199,304 (GRCm39) T55K probably benign Het
Kdm2b A G 5: 123,087,225 (GRCm39) Y192H probably damaging Het
Krt32 A T 11: 99,977,497 (GRCm39) probably null Het
Kti12 T A 4: 108,705,620 (GRCm39) L178Q possibly damaging Het
Mchr1 A T 15: 81,122,211 (GRCm39) K320N possibly damaging Het
Mdn1 T C 4: 32,685,783 (GRCm39) L858S probably damaging Het
Myo3a T A 2: 22,464,353 (GRCm39) F198Y probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfatc1 T C 18: 80,696,744 (GRCm39) T647A probably benign Het
Nuf2 A G 1: 169,326,453 (GRCm39) Y433H probably damaging Het
Nup210l T C 3: 90,061,972 (GRCm39) V717A probably benign Het
Or3a1b A G 11: 74,012,484 (GRCm39) Y123C probably damaging Het
Or5h17 A T 16: 58,820,268 (GRCm39) L73F probably benign Het
Or6c35 A T 10: 129,168,798 (GRCm39) D16V probably damaging Het
Pbrm1 A G 14: 30,811,520 (GRCm39) Y1210C probably damaging Het
Pcdhb6 A G 18: 37,467,402 (GRCm39) I108V probably benign Het
Plac8 T A 5: 100,710,584 (GRCm39) T6S probably benign Het
Plbd1 A T 6: 136,594,298 (GRCm39) V317E probably benign Het
Rars1 A T 11: 35,708,195 (GRCm39) Y406* probably null Het
Scamp3 T C 3: 89,084,929 (GRCm39) F11L possibly damaging Het
Sctr A G 1: 119,964,146 (GRCm39) N142S probably benign Het
Sh2d4a T C 8: 68,749,349 (GRCm39) S128P probably benign Het
Snrnp70 C T 7: 45,026,601 (GRCm39) probably benign Het
Taf3 T C 2: 9,945,816 (GRCm39) K596R probably damaging Het
Tango6 T C 8: 107,422,230 (GRCm39) probably null Het
Taok3 A G 5: 117,411,822 (GRCm39) T414A probably benign Het
Tmem104 G A 11: 115,079,149 (GRCm39) probably null Het
Tmem231 T A 8: 112,645,042 (GRCm39) S155C possibly damaging Het
Tssk3 G A 4: 129,383,343 (GRCm39) R110W possibly damaging Het
Ugt2b37 T C 5: 87,388,759 (GRCm39) T485A probably benign Het
Unc5b T C 10: 60,613,974 (GRCm39) K292E possibly damaging Het
Upf3a T A 8: 13,845,497 (GRCm39) probably null Het
Usp24 T A 4: 106,229,918 (GRCm39) V797E probably damaging Het
Vcan T C 13: 89,839,929 (GRCm39) T1872A possibly damaging Het
Vmn1r195 A G 13: 22,463,120 (GRCm39) M197V probably damaging Het
Vmn2r40 T A 7: 8,911,203 (GRCm39) T697S probably benign Het
Xab2 A T 8: 3,661,718 (GRCm39) D578E probably benign Het
Xpo7 A T 14: 70,909,090 (GRCm39) Y810* probably null Het
Zcchc2 A G 1: 105,951,426 (GRCm39) N587S probably benign Het
Zfp189 C T 4: 49,529,739 (GRCm39) R281* probably null Het
Zranb1 T C 7: 132,585,678 (GRCm39) *735R probably null 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
R1778:Adgrl1 UTSW 8 84,656,666 (GRCm39) missense probably damaging 1.00
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
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'- ATAGCACCTTCCCTTTGGACTG -3'
(R):5'- CTGTACAGTGGGATAGCAGC -3'

Sequencing Primer
(F):5'- GGACTGCGTTTGCTCTCTGAC -3'
(R):5'- TGGGATAGCAGCCACCAAATATG -3'
Posted On 2016-10-05