Incidental Mutation 'R5919:Adgrl1'
ID 462568
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 044116-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5919 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 84626734-84668583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 84659239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 648 (D648Y)
Ref Sequence ENSEMBL: ENSMUSP00000119100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045393] [ENSMUST00000098595] [ENSMUST00000124355] [ENSMUST00000131717] [ENSMUST00000132500] [ENSMUST00000141158] [ENSMUST00000152978]
AlphaFold Q80TR1
Predicted Effect probably damaging
Transcript: ENSMUST00000045393
AA Change: D653Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: D653Y

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 damaging
Transcript: ENSMUST00000131717
AA Change: D477Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: D477Y

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 damaging
Transcript: ENSMUST00000132500
AA Change: D648Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: D648Y

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 damaging
Transcript: ENSMUST00000141158
AA Change: D648Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: D648Y

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 damaging
Transcript: ENSMUST00000152978
AA Change: D653Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: D653Y

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141661
Meta Mutation Damage Score 0.8075 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (68/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T C 1: 151,791,249 (GRCm39) D104G probably damaging Het
6030458C11Rik A T 15: 12,823,754 (GRCm39) H40Q probably damaging Het
Abcc3 A G 11: 94,248,132 (GRCm39) V1156A possibly damaging Het
Adgrl3 C A 5: 81,794,417 (GRCm39) D547E probably benign Het
Aebp1 A T 11: 5,821,421 (GRCm39) M607L probably benign Het
Angptl1 T C 1: 156,686,116 (GRCm39) Y401H probably damaging Het
Arl4d A G 11: 101,557,962 (GRCm39) T163A probably benign Het
Bltp2 A T 11: 78,180,176 (GRCm39) N2152I probably damaging Het
Camk2b A G 11: 5,929,718 (GRCm39) S331P probably damaging Het
Ccdc15 C T 9: 37,231,692 (GRCm39) probably null Het
Ccdc168 T C 1: 44,096,146 (GRCm39) N1651D probably benign Het
Ccdc38 A T 10: 93,414,700 (GRCm39) I370F possibly damaging Het
Clstn1 A T 4: 149,719,703 (GRCm39) H416L probably damaging Het
Col12a1 C T 9: 79,509,580 (GRCm39) R3030H probably damaging Het
Cop1 T A 1: 159,147,294 (GRCm39) V540E probably damaging Het
Crebbp C T 16: 3,925,991 (GRCm39) R710H probably damaging Het
Dsel T C 1: 111,787,983 (GRCm39) I851V probably benign Het
Esrp1 A G 4: 11,344,146 (GRCm39) V642A probably damaging Het
Fanci T C 7: 79,094,486 (GRCm39) L1139P probably damaging Het
Fat1 T C 8: 45,479,910 (GRCm39) probably null Het
Fsip2 A G 2: 82,822,953 (GRCm39) N6229D possibly damaging Het
Garin5b T C 7: 4,773,385 (GRCm39) E144G possibly damaging Het
Gas2l3 G A 10: 89,252,917 (GRCm39) R243W probably damaging Het
Hectd1 G A 12: 51,815,855 (GRCm39) R1406W probably damaging Het
Hecw2 T C 1: 53,976,249 (GRCm39) H180R probably damaging Het
Ift172 T A 5: 31,418,006 (GRCm39) Q1261L possibly damaging Het
Il17rd T C 14: 26,818,001 (GRCm39) V230A probably damaging Het
Kif17 A T 4: 137,997,202 (GRCm39) I42F probably damaging Het
Kif24 T C 4: 41,394,477 (GRCm39) K799E possibly damaging Het
Lrp4 A T 2: 91,303,552 (GRCm39) I84F probably damaging Het
Mplkipl1 T C 19: 61,163,907 (GRCm39) Y176C probably damaging Het
Mroh7 T C 4: 106,551,509 (GRCm39) probably null Het
Ms4a14 C A 19: 11,291,661 (GRCm39) V13F possibly damaging Het
Muc2 T A 7: 141,281,171 (GRCm39) V445D probably damaging Het
Muc6 A T 7: 141,227,837 (GRCm39) M1317K possibly damaging Het
Myof T A 19: 38,012,818 (GRCm39) D39V possibly damaging Het
Ndufaf1 A C 2: 119,490,709 (GRCm39) V117G possibly damaging Het
Ndufs1 C G 1: 63,182,991 (GRCm39) *728S probably null Het
Nup188 A T 2: 30,229,906 (GRCm39) N1375Y probably damaging Het
Oasl1 T A 5: 115,066,329 (GRCm39) I149N probably damaging Het
Or9i16 A G 19: 13,865,209 (GRCm39) Y122H probably damaging Het
Pelo C A 13: 115,225,845 (GRCm39) C204F possibly damaging Het
Phf11d A C 14: 59,593,712 (GRCm39) probably benign Het
Rars2 T C 4: 34,657,232 (GRCm39) L526P probably damaging Het
Rrp1 A G 10: 78,241,422 (GRCm39) L177P probably damaging Het
S100a9 A G 3: 90,602,495 (GRCm39) L33P probably damaging Het
Slc4a7 A G 14: 14,791,092 (GRCm38) D1045G probably benign Het
Slc9a3 C T 13: 74,306,859 (GRCm39) T328I probably damaging Het
Spata6 A G 4: 111,636,405 (GRCm39) D232G probably damaging Het
Taar6 A T 10: 23,861,168 (GRCm39) I126N probably damaging Het
Tmeff2 C A 1: 51,171,311 (GRCm39) C182* probably null Het
Tmem178 T A 17: 81,297,187 (GRCm39) C190S probably damaging Het
Trerf1 T G 17: 47,634,208 (GRCm39) noncoding transcript Het
Trgv6 A G 13: 19,374,782 (GRCm39) Y16C probably benign Het
Ubn2 A G 6: 38,468,423 (GRCm39) I1046V possibly damaging Het
Vmn1r221 A T 13: 23,401,466 (GRCm39) noncoding transcript Het
Vmn2r2 T C 3: 64,044,723 (GRCm39) N141S probably benign Het
Zfp64 T A 2: 168,768,419 (GRCm39) N398Y probably benign Het
Zfp787 T G 7: 6,135,834 (GRCm39) Q139P probably damaging 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
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'- ACTACATCAAGGTGAGCCCAG -3'
(R):5'- CAGGCAGGACTCATGCTAAACC -3'

Sequencing Primer
(F):5'- TACATCAAGGTGAGCCCAGGAATG -3'
(R):5'- GGACTCATGCTAAACCCTGAGG -3'
Posted On 2017-02-28