Incidental Mutation 'R5652:Adgrl1'
ID 441487
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 043298-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5652 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84626734-84668583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84656444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 254 (Y254C)
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 damaging
Transcript: ENSMUST00000045393
AA Change: Y254C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: Y254C

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: Y78C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: Y78C

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: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: Y249C

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: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: Y249C

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: Y254C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: Y254C

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: ENSMUST00000200106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150674
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,856,339 (GRCm39) I334V probably benign Het
Adamts5 C T 16: 85,696,156 (GRCm39) A334T probably damaging Het
Adcy4 G C 14: 56,010,900 (GRCm39) F672L probably benign Het
Adnp2 A G 18: 80,174,065 (GRCm39) S115P probably damaging Het
Aox1 A T 1: 58,134,356 (GRCm39) S1110C probably damaging Het
Arhgap44 G T 11: 64,915,064 (GRCm39) N401K probably damaging Het
Atp23 A T 10: 126,735,494 (GRCm39) N63K possibly damaging Het
Atp8b1 G C 18: 64,664,453 (GRCm39) I1238M probably benign Het
Ccdc38 A T 10: 93,391,448 (GRCm39) probably null Het
Celsr2 T C 3: 108,304,051 (GRCm39) D2364G probably null Het
Celsr3 G A 9: 108,715,671 (GRCm39) D2116N probably benign Het
Cenpf A G 1: 189,389,279 (GRCm39) S1518P probably damaging Het
Clcn3 C A 8: 61,372,387 (GRCm39) V758L possibly damaging Het
Cmklr2 A G 1: 63,222,626 (GRCm39) V203A probably benign Het
Ctsf T C 19: 4,908,505 (GRCm39) L288P probably damaging Het
Cwh43 A G 5: 73,575,484 (GRCm39) T334A probably damaging Het
Cyp3a57 A T 5: 145,286,135 (GRCm39) probably null Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Dennd1a A G 2: 37,691,138 (GRCm39) I260T probably benign Het
Dgkh T C 14: 78,865,201 (GRCm39) H47R probably damaging Het
Dync1h1 G A 12: 110,632,422 (GRCm39) V4514I possibly damaging Het
Dync2h1 A T 9: 7,116,638 (GRCm39) M66K probably benign Het
Fam186a T G 15: 99,843,253 (GRCm39) Y997S possibly damaging Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fat4 C T 3: 39,057,117 (GRCm39) T4271I probably damaging Het
Fdxacb1 T A 9: 50,679,705 (GRCm39) L41Q probably damaging Het
Fgfr2 C T 7: 129,863,593 (GRCm39) V18M probably damaging Het
Gpa33 A C 1: 165,992,714 (GRCm39) probably null Het
Gpr107 A G 2: 31,075,601 (GRCm39) I371V probably benign Het
H1f6 A G 13: 23,880,219 (GRCm39) K124R probably benign Het
Hectd2 T C 19: 36,581,720 (GRCm39) V420A probably damaging Het
Iglc3 A G 16: 18,884,420 (GRCm39) probably benign Het
Igtp A G 11: 58,097,455 (GRCm39) T209A probably benign Het
Itgb7 T A 15: 102,124,638 (GRCm39) N793I possibly damaging Het
Kansl1 G A 11: 104,228,992 (GRCm39) R870C probably damaging Het
Kcnh6 C T 11: 105,899,811 (GRCm39) R27C probably damaging Het
Kif2b T A 11: 91,466,656 (GRCm39) E542D possibly damaging Het
Klhl24 C A 16: 19,938,997 (GRCm39) Y517* probably null Het
Klhl25 A G 7: 75,515,895 (GRCm39) D267G probably benign Het
Krr1 C A 10: 111,813,288 (GRCm39) F195L possibly damaging Het
Lsr C T 7: 30,658,456 (GRCm39) G95D probably damaging Het
Matcap2 A G 9: 22,335,786 (GRCm39) T135A probably benign Het
Med15 A T 16: 17,473,055 (GRCm39) I504N probably damaging Het
Mug1 A G 6: 121,817,140 (GRCm39) R70G probably benign Het
Mypn T A 10: 62,971,580 (GRCm39) Q820L probably damaging Het
Nlrp4f A T 13: 65,330,803 (GRCm39) H863Q probably benign Het
Nudt9 G A 5: 104,207,646 (GRCm39) V213M probably benign Het
Or5ak4 T A 2: 85,161,717 (GRCm39) N175I probably damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or7g16 A G 9: 18,726,922 (GRCm39) S223P probably damaging Het
Or8c13 T C 9: 38,092,111 (GRCm39) T3A probably benign Het
Orc2 A G 1: 58,505,231 (GRCm39) F475L probably damaging Het
Oxa1l T A 14: 54,604,289 (GRCm39) L183* probably null Het
Pcdh20 T C 14: 88,704,760 (GRCm39) T847A probably damaging Het
Pcdha6 G A 18: 37,101,889 (GRCm39) probably null Het
Pip5k1a T C 3: 94,974,750 (GRCm39) N376S probably benign Het
Pkd1l1 T C 11: 8,859,889 (GRCm39) E573G probably benign Het
Pkp1 T A 1: 135,810,335 (GRCm39) probably null Het
Pum1 T C 4: 130,491,438 (GRCm39) I643T possibly damaging Het
Rapgef3 A G 15: 97,656,318 (GRCm39) S328P probably benign Het
Raver1 A G 9: 21,001,608 (GRCm39) V75A probably damaging Het
Rbm28 T C 6: 29,135,408 (GRCm39) E511G probably damaging Het
Satb1 T A 17: 52,049,823 (GRCm39) T544S probably damaging Het
Sdcbp2 T C 2: 151,431,135 (GRCm39) V248A probably benign Het
Sema7a A G 9: 57,867,942 (GRCm39) D506G probably damaging Het
Septin8 A G 11: 53,428,044 (GRCm39) E286G probably damaging Het
Sh3pxd2b A G 11: 32,372,812 (GRCm39) I660V probably damaging Het
Stk38l G T 6: 146,674,826 (GRCm39) D364Y possibly damaging Het
Sycp2 T C 2: 178,000,498 (GRCm39) probably null Het
Tbc1d31 T A 15: 57,815,062 (GRCm39) S580T probably damaging Het
Tcerg1l G A 7: 137,881,775 (GRCm39) R305C probably damaging Het
Tek T A 4: 94,743,561 (GRCm39) Y859N probably damaging Het
Tjp1 A T 7: 64,962,191 (GRCm39) probably null Het
Tmem132d A T 5: 127,861,859 (GRCm39) I754N possibly damaging Het
Togaram1 G A 12: 65,063,424 (GRCm39) V1580I probably benign Het
Troap A G 15: 98,980,145 (GRCm39) T442A probably benign Het
Ttn A T 2: 76,712,097 (GRCm39) probably benign Het
Twnk T A 19: 44,995,732 (GRCm39) V55E possibly damaging Het
Uggt1 A T 1: 36,255,234 (GRCm39) Y225* probably null Het
Vmn2r109 A G 17: 20,760,781 (GRCm39) *859Q probably null Het
Vmn2r17 A T 5: 109,577,430 (GRCm39) I494L probably benign Het
Vmn2r88 T C 14: 51,656,029 (GRCm39) V746A probably damaging Het
Yae1d1 A G 13: 18,166,291 (GRCm39) L57P probably damaging Het
Zfp26 G A 9: 20,349,137 (GRCm39) R476* probably null Het
Zmynd8 T A 2: 165,649,618 (GRCm39) Q816L probably damaging Het
Zswim8 A T 14: 20,763,495 (GRCm39) H414L possibly 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
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'- TGACTGAATATGCCTCATGGGAG -3'
(R):5'- ACCATGAAGGCATTGGAGGC -3'

Sequencing Primer
(F):5'- CTCATGGGAGGACTATGTAGCC -3'
(R):5'- CGAGCGCTTGTCATAGCCTG -3'
Posted On 2016-11-08