Incidental Mutation 'R6221:Adgrl1'
ID 504031
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 044432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6221 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84626734-84668583 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 84664316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 1236 (Q1236*)
Ref Sequence ENSEMBL: ENSMUSP00000115295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045393] [ENSMUST00000098595] [ENSMUST00000124355] [ENSMUST00000131717] [ENSMUST00000132500] [ENSMUST00000141158] [ENSMUST00000152978]
AlphaFold Q80TR1
Predicted Effect probably null
Transcript: ENSMUST00000045393
AA Change: Q1191*
SMART Domains Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: Q1191*

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 null
Transcript: ENSMUST00000131018
AA Change: Q11*
SMART Domains Protein: ENSMUSP00000117720
Gene: ENSMUSG00000013033
AA Change: Q11*

DomainStartEndE-ValueType
Pfam:Latrophilin 1 213 9.2e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000131717
AA Change: Q1015*
SMART Domains Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: Q1015*

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 null
Transcript: ENSMUST00000132500
AA Change: Q1231*
SMART Domains Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: Q1231*

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 null
Transcript: ENSMUST00000141158
AA Change: Q1186*
SMART Domains Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: Q1186*

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 null
Transcript: ENSMUST00000152978
AA Change: Q1236*
SMART Domains Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: Q1236*

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: ENSMUST00000141661
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 99% (66/67)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,824,874 (GRCm39) M108V probably benign Het
Adprhl1 T C 8: 13,275,634 (GRCm39) I375V probably benign Het
Bsn A G 9: 107,982,765 (GRCm39) S3663P unknown Het
Cfap44 A T 16: 44,257,549 (GRCm39) Q1028L probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Col1a2 T C 6: 4,539,490 (GRCm39) S1253P unknown Het
Dkk3 A G 7: 111,720,853 (GRCm39) Y158H probably damaging Het
Dmxl1 A G 18: 50,004,799 (GRCm39) Y949C probably damaging Het
E130311K13Rik T C 3: 63,823,152 (GRCm39) Y164C probably benign Het
Evx1 T A 6: 52,293,768 (GRCm39) V312E probably damaging Het
Fam240b T C 13: 64,629,591 (GRCm39) N75S probably benign Het
Fat2 A G 11: 55,186,898 (GRCm39) probably null Het
Fbn1 G T 2: 125,162,841 (GRCm39) D2148E probably benign Het
Fzd4 A G 7: 89,054,100 (GRCm39) H69R probably damaging Het
Fzd6 T C 15: 38,894,239 (GRCm39) V135A probably benign Het
Gimap8 T C 6: 48,635,876 (GRCm39) L547S probably damaging Het
Gnrhr G A 5: 86,333,262 (GRCm39) Q203* probably null Het
Gpaa1 T G 15: 76,218,032 (GRCm39) V341G probably benign Het
Grik3 T A 4: 125,598,916 (GRCm39) L828Q probably damaging Het
Heatr5b T C 17: 79,074,383 (GRCm39) N1568S probably benign Het
Hpf1 T A 8: 61,346,808 (GRCm39) V41E probably damaging Het
Hsd3b1 A T 3: 98,760,472 (GRCm39) M173K probably benign Het
Hsd3b6 A G 3: 98,713,849 (GRCm39) I150T probably benign Het
Ica1 C G 6: 8,644,181 (GRCm39) L369F possibly damaging Het
Inf2 T G 12: 112,570,179 (GRCm39) S293A possibly damaging Het
Klra10 T C 6: 130,246,235 (GRCm39) T247A probably benign Het
Kpna1 G A 16: 35,841,058 (GRCm39) G91D probably benign Het
Ldlrap1 C T 4: 134,484,671 (GRCm39) E108K probably damaging Het
Ltb4r2 C T 14: 55,999,540 (GRCm39) R54W probably damaging Het
Mki67 A G 7: 135,299,643 (GRCm39) F1797S probably benign Het
Mlh3 C A 12: 85,315,192 (GRCm39) Q331H possibly damaging Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Odad1 T C 7: 45,596,903 (GRCm39) L410P probably damaging Het
Or5b124 T A 19: 13,610,830 (GRCm39) Y118* probably null Het
Oxct2b T C 4: 123,010,601 (GRCm39) Y174H probably damaging Het
Pakap C T 4: 57,855,618 (GRCm39) Q559* probably null Het
Pclo G A 5: 14,725,327 (GRCm39) R1395Q unknown Het
Ppara A G 15: 85,661,881 (GRCm39) I41V probably benign Het
Ppip5k2 A T 1: 97,657,753 (GRCm39) I766K probably damaging Het
Ppm1j A G 3: 104,693,092 (GRCm39) N483S possibly damaging Het
Prex2 T C 1: 11,336,236 (GRCm39) I1478T probably benign Het
Ror2 T C 13: 53,267,253 (GRCm39) Y394C probably damaging Het
Rsl1d1 A G 16: 11,019,175 (GRCm39) V121A probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Slc15a1 T C 14: 121,702,316 (GRCm39) Q610R probably null Het
Slc1a6 A G 10: 78,635,910 (GRCm39) E325G probably damaging Het
Slc7a13 A G 4: 19,839,305 (GRCm39) I303V probably benign Het
Smc3 T A 19: 53,630,362 (GRCm39) V1123E probably damaging Het
Smco1 G A 16: 32,092,023 (GRCm39) V34I probably benign Het
Spag1 A G 15: 36,197,949 (GRCm39) R304G probably benign Het
Spata31f1e A T 4: 42,793,153 (GRCm39) N326K probably benign Het
Spta1 A G 1: 174,009,342 (GRCm39) D293G probably damaging Het
Sspo C A 6: 48,440,639 (GRCm39) P1751Q probably damaging Het
Syt14 A T 1: 192,612,908 (GRCm39) Y631N probably damaging Het
Taar3 A G 10: 23,825,970 (GRCm39) N172S possibly damaging Het
Tank A G 2: 61,480,427 (GRCm39) E321G probably damaging Het
Tcstv5 T G 13: 120,411,534 (GRCm39) H24P probably damaging Het
Thbs1 C A 2: 117,950,478 (GRCm39) L704M probably damaging Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Togaram1 A T 12: 65,013,320 (GRCm39) E190D probably damaging Het
Traf1 A C 2: 34,838,313 (GRCm39) V175G probably benign Het
Trib3 A T 2: 152,180,528 (GRCm39) C222S probably damaging Het
Tsen34 T A 7: 3,698,543 (GRCm39) I229N probably damaging Het
Ttc28 A G 5: 111,419,114 (GRCm39) D1370G probably benign Het
Ugt1a5 G A 1: 88,093,964 (GRCm39) R64H probably benign Het
Vdac2 G A 14: 21,895,246 (GRCm39) G265R possibly damaging Het
Vdac3 A G 8: 23,078,759 (GRCm39) V17A possibly damaging Het
Yif1b C T 7: 28,945,207 (GRCm39) T220I possibly damaging Het
Zfp846 T G 9: 20,504,591 (GRCm39) H150Q possibly damaging Het
Zwilch A T 9: 64,068,665 (GRCm39) H181Q 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
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
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'- TGGCAGGTGACATCAACAGC -3'
(R):5'- TGTAGCTTCCTGTAGACGCC -3'

Sequencing Primer
(F):5'- GGTGACATCAACAGCACCCC -3'
(R):5'- TTCCTGTAGACGCCAGCCC -3'
Posted On 2018-02-28