Incidental Mutation 'R7142:Adgrl1'
ID 553475
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 045250-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7142 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84626734-84668583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84663829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 1099 (H1099Y)
Ref Sequence ENSEMBL: ENSMUSP00000118452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045393] [ENSMUST00000098595] [ENSMUST00000124355] [ENSMUST00000131717] [ENSMUST00000132500] [ENSMUST00000141158] [ENSMUST00000152978]
AlphaFold Q80TR1
Predicted Effect probably benign
Transcript: ENSMUST00000045393
AA Change: H1104Y

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: H1104Y

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 probably benign
Transcript: ENSMUST00000098595
SMART Domains Protein: ENSMUSP00000096195
Gene: ENSMUSG00000074219

DomainStartEndE-ValueType
low complexity region 60 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124355
SMART Domains Protein: ENSMUSP00000116064
Gene: ENSMUSG00000013033

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Gal_Lectin 48 128 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131018
SMART Domains Protein: ENSMUSP00000117720
Gene: ENSMUSG00000013033

DomainStartEndE-ValueType
Pfam:Latrophilin 1 213 9.2e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131717
AA Change: H928Y

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: H928Y

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 possibly damaging
Transcript: ENSMUST00000132500
AA Change: H1099Y

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: H1099Y

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 probably benign
Transcript: ENSMUST00000141158
AA Change: H1099Y

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: H1099Y

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: H1104Y

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: H1104Y

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
Meta Mutation Damage Score 0.1656 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (63/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,903,446 (GRCm39) H290L probably damaging Het
Abca1 T A 4: 53,082,050 (GRCm39) S737C probably damaging Het
Abca14 G C 7: 119,850,406 (GRCm39) V753L possibly damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Aldh1l1 G A 6: 90,540,398 (GRCm39) D228N probably damaging Het
Cacna1e G T 1: 154,288,230 (GRCm39) Q1883K probably damaging Het
Caskin2 A G 11: 115,697,562 (GRCm39) Y125H probably benign Het
Ccdc85a A T 11: 28,527,192 (GRCm39) Y139N probably damaging Het
Cd93 C T 2: 148,283,725 (GRCm39) W540* probably null Het
Cdh3 G A 8: 107,271,860 (GRCm39) probably null Het
Chmp2b G A 16: 65,343,794 (GRCm39) Q88* probably null Het
Cpt1a T C 19: 3,425,100 (GRCm39) M489T probably benign Het
Ctsk G A 3: 95,414,259 (GRCm39) V274M possibly damaging Het
Cyp3a44 A G 5: 145,714,771 (GRCm39) V460A probably benign Het
Cypt4 C T 9: 24,536,740 (GRCm39) R77* probably null Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dnah7a A T 1: 53,452,927 (GRCm39) Y3850* probably null Het
Drosha A T 15: 12,924,232 (GRCm39) T1205S possibly damaging Het
Eif3j2 T C 18: 43,610,465 (GRCm39) E116G probably damaging Het
Ercc5 A G 1: 44,213,374 (GRCm39) E790G probably damaging Het
Fam163b C T 2: 27,003,567 (GRCm39) R29Q probably damaging Het
Fbxo44 C T 4: 148,243,269 (GRCm39) G50E unknown Het
Foxo3 T C 10: 42,150,591 (GRCm39) probably null Het
Gnal C T 18: 67,351,599 (GRCm39) P386L probably damaging Het
Gpc5 T A 14: 115,654,615 (GRCm39) H478Q probably benign Het
Grhl2 A T 15: 37,279,826 (GRCm39) D178V probably benign Het
Gtf2i C A 5: 134,273,705 (GRCm39) V755L possibly damaging Het
Hal T C 10: 93,336,513 (GRCm39) V414A possibly damaging Het
Hmx2 T C 7: 131,157,465 (GRCm39) V193A probably damaging Het
Il17a T A 1: 20,802,327 (GRCm39) M12K probably benign Het
Invs T A 4: 48,407,696 (GRCm39) I557N probably damaging Het
Kng1 T A 16: 22,898,170 (GRCm39) H523Q probably benign Het
Lrp4 T A 2: 91,325,339 (GRCm39) I1388N probably damaging Het
Mboat4 A G 8: 34,587,291 (GRCm39) I63V probably benign Het
Mcoln2 G A 3: 145,889,324 (GRCm39) probably null Het
Mgat5 A T 1: 127,339,924 (GRCm39) D435V probably damaging Het
Mri1 C A 8: 84,983,753 (GRCm39) R46L probably damaging Het
Mxra8 A T 4: 155,927,519 (GRCm39) Y409F probably benign Het
Nlrp1b T A 11: 71,062,901 (GRCm39) R720* probably null Het
Ofcc1 T C 13: 40,157,538 (GRCm39) I887V probably benign Het
Or5l13 T C 2: 87,780,056 (GRCm39) I174V probably benign Het
Otud4 T A 8: 80,399,391 (GRCm39) probably null Het
P3h1 T A 4: 119,104,358 (GRCm39) D626E probably benign Het
Pde2a A T 7: 101,153,857 (GRCm39) D485V probably damaging Het
Phldb2 G A 16: 45,577,539 (GRCm39) R1129* probably null Het
Pkn1 T C 8: 84,420,596 (GRCm39) E10G possibly damaging Het
Psd2 A G 18: 36,113,097 (GRCm39) D264G possibly damaging Het
Psg29 A G 7: 16,944,546 (GRCm39) D352G probably damaging Het
Rgs14 T C 13: 55,527,417 (GRCm39) S218P probably damaging Het
Sec14l2 T C 11: 4,048,379 (GRCm39) T380A probably benign Het
Septin12 T C 16: 4,806,226 (GRCm39) T312A unknown Het
Skint5 A T 4: 113,428,791 (GRCm39) V1075E unknown Het
Ston2 A G 12: 91,614,009 (GRCm39) S800P probably damaging Het
Tmem106b A G 6: 13,081,564 (GRCm39) N157S probably damaging Het
Tmem132b G A 5: 125,699,737 (GRCm39) G133S probably damaging Het
Tmie A T 9: 110,699,749 (GRCm39) M55K possibly damaging Het
Trpc6 A T 9: 8,653,017 (GRCm39) R608* probably null Het
Unc93a2 G A 17: 7,644,021 (GRCm39) T96I probably damaging Het
Usp35 A G 7: 96,960,754 (GRCm39) S891P probably damaging Het
Vmn1r178 A G 7: 23,593,035 (GRCm39) T28A probably damaging Het
Wnk1 T A 6: 119,926,240 (GRCm39) M1324L probably benign Het
Wrnip1 C A 13: 32,986,616 (GRCm39) S132R possibly damaging Het
Wsb1 T C 11: 79,141,814 (GRCm39) K68E probably benign Het
Zfp433 A T 10: 81,556,040 (GRCm39) K181* 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
R5522:Adgrl1 UTSW 8 84,649,704 (GRCm39) missense possibly damaging 0.93
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
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'- AAGACCACATGTGAAGGAGAATT -3'
(R):5'- TTGGCCCCAGAGAGACCT -3'

Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGGAATG -3'
(R):5'- AGACCTGGTGGATATGCCTTCC -3'
Posted On 2019-05-15