Incidental Mutation 'R0964:Adgrl1'
ID 81483
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 039093-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0964 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 84626734-84668583 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 84661041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045393] [ENSMUST00000098595] [ENSMUST00000124355] [ENSMUST00000131717] [ENSMUST00000132500] [ENSMUST00000152978] [ENSMUST00000141158]
AlphaFold Q80TR1
Predicted Effect probably benign
Transcript: ENSMUST00000045393
SMART Domains Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033

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
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
SMART Domains Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033

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: ENSMUST00000152978
SMART Domains Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033

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 probably benign
Transcript: ENSMUST00000141158
SMART Domains Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033

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 noncoding transcript
Transcript: ENSMUST00000200106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141661
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 98% (55/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Acacb A T 5: 114,367,813 (GRCm39) M1604L possibly damaging Het
Acp3 A G 9: 104,204,174 (GRCm39) V40A possibly damaging Het
Alppl2 C T 1: 87,015,446 (GRCm39) V372I possibly damaging Het
Apol8 C T 15: 77,633,811 (GRCm39) S255N probably benign Het
Atp8b4 A T 2: 126,179,413 (GRCm39) F973I probably damaging Het
Bbs4 A G 9: 59,230,259 (GRCm39) *150Q probably null Het
Bltp3a A T 17: 28,106,152 (GRCm39) T893S probably damaging Het
Cacna1h A T 17: 25,597,749 (GRCm39) probably benign Het
Ccn1 C A 3: 145,353,503 (GRCm39) C353F probably damaging Het
Ccser2 C T 14: 36,630,965 (GRCm39) probably benign Het
Chd9 A G 8: 91,741,832 (GRCm39) E1607G probably benign Het
Clca4b A G 3: 144,621,337 (GRCm39) I579T probably benign Het
Col20a1 T A 2: 180,626,278 (GRCm39) probably benign Het
Creg2 T C 1: 39,664,144 (GRCm39) I205V probably benign Het
Ddx24 C T 12: 103,390,166 (GRCm39) R275H probably damaging Het
Dip2c G A 13: 9,618,699 (GRCm39) A579T probably benign Het
Dnah3 T C 7: 119,551,962 (GRCm39) probably benign Het
Dnah8 G A 17: 30,892,894 (GRCm39) probably null Het
Gckr T C 5: 31,484,259 (GRCm39) probably benign Het
Gpbp1l1 A G 4: 116,438,436 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,281,523 (GRCm39) T1913A probably benign Het
Lmo7 T C 14: 102,158,003 (GRCm39) probably benign Het
Meioc G A 11: 102,570,857 (GRCm39) V863I probably damaging Het
Myh1 A G 11: 67,096,751 (GRCm39) I341V probably benign Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Myh13 A G 11: 67,235,828 (GRCm39) T664A probably benign Het
Myo3b A C 2: 70,257,193 (GRCm39) D1269A probably damaging Het
Nckap1 A G 2: 80,378,243 (GRCm39) probably null Het
Nr3c2 A G 8: 77,635,297 (GRCm39) probably null Het
Nxpe5 T C 5: 138,238,186 (GRCm39) S249P probably damaging Het
Or52z1 C T 7: 103,436,604 (GRCm39) M293I probably benign Het
Or8k16 A G 2: 85,520,709 (GRCm39) N312S probably benign Het
Or9a4 T C 6: 40,549,139 (GRCm39) V273A probably benign Het
Pitpnm3 G A 11: 71,949,296 (GRCm39) T675I probably damaging Het
Plekhm1 C A 11: 103,285,908 (GRCm39) E176* probably null Het
Prdm11 C A 2: 92,819,567 (GRCm39) probably benign Het
Prodh2 C A 7: 30,205,706 (GRCm39) R218S probably damaging Het
Rps15a T C 7: 117,714,060 (GRCm39) D54G probably benign Het
Sbno2 G T 10: 79,920,093 (GRCm39) T46N possibly damaging Het
Sdk2 A G 11: 113,697,243 (GRCm39) probably benign Het
Sema3c T C 5: 17,926,907 (GRCm39) F567L probably damaging Het
Slc36a1 A G 11: 55,116,780 (GRCm39) probably benign Het
Spaca6 A T 17: 18,058,653 (GRCm39) E284V possibly damaging Het
Srsf3 C A 17: 29,255,412 (GRCm39) L66I probably damaging Het
Srsf3 T A 17: 29,255,413 (GRCm39) L66Q probably damaging Het
Syne1 T C 10: 4,993,652 (GRCm39) T8363A possibly damaging Het
Trmt1 T A 8: 85,423,481 (GRCm39) L298Q probably damaging Het
Uba6 T C 5: 86,267,260 (GRCm39) I923V possibly damaging Het
Vmn2r106 G A 17: 20,487,859 (GRCm39) H847Y probably benign Het
Vmn2r15 T C 5: 109,445,401 (GRCm39) T8A probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb41 T G 1: 139,366,769 (GRCm39) F583V probably damaging Het
Zfp938 T A 10: 82,061,253 (GRCm39) I456F probably benign 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
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
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'- CTTCCAGAGCATAAGGAAGTGAGCC -3'
(R):5'- TGCAGCAGTCCCGCAAAGATAG -3'

Sequencing Primer
(F):5'- AAGTGAGCCTGCACTGC -3'
(R):5'- TTATCTATTCCAACCAGGAAGAGCAG -3'
Posted On 2013-11-07