Incidental Mutation 'R8256:Lsamp'
ID 640578
Institutional Source Beutler Lab
Gene Symbol Lsamp
Ensembl Gene ENSMUSG00000061080
Gene Name limbic system-associated membrane protein
Synonyms B130007O04Rik, D930023J12Rik, Lam, Lamp
MMRRC Submission 067682-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8256 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 39804723-42002042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41965007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 305 (Y305F)
Ref Sequence ENSEMBL: ENSMUSP00000139667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078873] [ENSMUST00000099761] [ENSMUST00000187695]
AlphaFold Q8BLK3
Predicted Effect probably damaging
Transcript: ENSMUST00000078873
AA Change: Y288F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077913
Gene: ENSMUSG00000061080
AA Change: Y288F

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 38 129 1.81e-10 SMART
IGc2 144 204 3.7e-16 SMART
IGc2 230 297 2.12e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099761
AA Change: Y288F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097349
Gene: ENSMUSG00000061080
AA Change: Y288F

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
IG 38 129 1.81e-10 SMART
IGc2 144 204 3.7e-16 SMART
IGc2 230 297 2.12e-16 SMART
transmembrane domain 313 335 N/A INTRINSIC
Predicted Effect
Predicted Effect
SMART Domains Protein: ENSMUSP00000115823
Gene: ENSMUSG00000061080
AA Change: Y65F

DomainStartEndE-ValueType
IGc2 8 75 2.12e-16 SMART
transmembrane domain 114 136 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187695
AA Change: Y305F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
AA Change: Y305F

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 55 146 7.6e-13 SMART
IGc2 161 221 1.5e-18 SMART
IGc2 247 314 8.6e-19 SMART
transmembrane domain 330 352 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (41/41)
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 immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for mutations in this gene are hyperresponsive to novel environments. Mice homozygous for another knock-out allele exhibit reduced barbering, whisker trimming, anxiety, dominance, and aggression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 30,958,287 (GRCm39) probably null Het
Acsbg1 A T 9: 54,525,345 (GRCm39) M402K probably damaging Het
Adamts2 T C 11: 50,683,583 (GRCm39) V955A probably benign Het
Adcy2 C T 13: 68,768,880 (GRCm39) E1083K probably damaging Het
Adgrb2 G A 4: 129,901,921 (GRCm39) A484T probably damaging Het
Adgrv1 G T 13: 81,727,679 (GRCm39) D320E probably damaging Het
Arf4 T C 14: 26,377,126 (GRCm39) S178P probably benign Het
Atg9a G A 1: 75,163,563 (GRCm39) T179I possibly damaging Het
Atp13a2 A C 4: 140,722,922 (GRCm39) Q225P possibly damaging Het
Axdnd1 T C 1: 156,158,236 (GRCm39) T1105A unknown Het
Bltp2 T A 11: 78,167,979 (GRCm39) D1471E probably benign Het
Ccdc68 G T 18: 70,072,018 (GRCm39) E32* probably null Het
Chd9 T C 8: 91,660,129 (GRCm39) V363A unknown Het
Cmya5 C T 13: 93,229,986 (GRCm39) E1701K possibly damaging Het
Def8 T C 8: 124,186,368 (GRCm39) F369S probably damaging Het
Dhx8 C T 11: 101,631,588 (GRCm39) P394S possibly damaging Het
Fbxo3 A G 2: 103,864,008 (GRCm39) R88G probably damaging Het
Gstm4 A G 3: 107,951,667 (GRCm39) probably null Het
Hira A G 16: 18,744,443 (GRCm39) T387A probably benign Het
Hspbap1 A G 16: 35,590,879 (GRCm39) T12A probably benign Het
Lipi G A 16: 75,370,950 (GRCm39) A89V probably benign Het
Ltbp1 T A 17: 75,622,236 (GRCm39) probably benign Het
Mphosph9 C T 5: 124,393,169 (GRCm39) D1116N probably damaging Het
Mylip T C 13: 45,561,833 (GRCm39) C277R probably damaging Het
Mylk4 T C 13: 32,904,522 (GRCm39) D204G probably damaging Het
Ncf2 G A 1: 152,692,851 (GRCm39) probably null Het
Or2n1e T G 17: 38,586,411 (GRCm39) L250V probably damaging Het
Plekhg3 T C 12: 76,609,041 (GRCm39) L138P probably damaging Het
Pramel27 A G 4: 143,578,255 (GRCm39) R172G probably benign Het
Ptk6 T A 2: 180,837,633 (GRCm39) K429* probably null Het
Rasgrp4 T C 7: 28,842,500 (GRCm39) V258A probably damaging Het
Rp1l1 T C 14: 64,265,602 (GRCm39) L396S probably benign Het
Samd8 A T 14: 21,833,745 (GRCm39) probably null Het
Spock1 T A 13: 57,588,257 (GRCm39) I269F probably damaging Het
Tap2 A G 17: 34,435,006 (GRCm39) D683G probably benign Het
Terb1 T C 8: 105,199,579 (GRCm39) D455G possibly damaging Het
Tnfaip8l3 A G 9: 53,934,528 (GRCm39) V149A probably benign Het
Ubr7 T A 12: 102,736,170 (GRCm39) M364K probably damaging Het
Vmn1r121 T G 7: 20,831,679 (GRCm39) N254H probably benign Het
Zfp804a A G 2: 81,884,193 (GRCm39) N20S probably damaging Het
Zhx1 T C 15: 57,916,359 (GRCm39) K629R probably benign Het
Other mutations in Lsamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01665:Lsamp APN 16 41,964,375 (GRCm39) nonsense probably null
IGL02869:Lsamp APN 16 41,965,078 (GRCm39) missense probably benign 0.00
R0930:Lsamp UTSW 16 41,709,327 (GRCm39) missense probably benign 0.25
R1147:Lsamp UTSW 16 41,994,499 (GRCm39) splice site probably benign
R1170:Lsamp UTSW 16 41,971,592 (GRCm39) intron probably benign
R1649:Lsamp UTSW 16 41,775,661 (GRCm39) missense probably benign 0.00
R1656:Lsamp UTSW 16 41,775,682 (GRCm39) missense probably damaging 1.00
R1976:Lsamp UTSW 16 41,709,430 (GRCm39) missense probably damaging 0.99
R3613:Lsamp UTSW 16 41,775,686 (GRCm39) missense probably benign 0.03
R3732:Lsamp UTSW 16 41,964,935 (GRCm39) missense probably damaging 1.00
R3734:Lsamp UTSW 16 41,965,133 (GRCm39) missense probably benign
R3838:Lsamp UTSW 16 41,954,675 (GRCm39) missense possibly damaging 0.54
R3890:Lsamp UTSW 16 39,805,054 (GRCm39) missense probably benign 0.01
R3891:Lsamp UTSW 16 39,805,054 (GRCm39) missense probably benign 0.01
R4554:Lsamp UTSW 16 41,964,438 (GRCm39) missense probably damaging 1.00
R4672:Lsamp UTSW 16 41,775,697 (GRCm39) missense probably damaging 1.00
R5151:Lsamp UTSW 16 41,954,792 (GRCm39) missense probably damaging 1.00
R5617:Lsamp UTSW 16 41,954,786 (GRCm39) missense probably damaging 1.00
R6075:Lsamp UTSW 16 41,954,788 (GRCm39) missense probably benign 0.19
R6217:Lsamp UTSW 16 41,954,675 (GRCm39) missense possibly damaging 0.54
R6477:Lsamp UTSW 16 41,988,528 (GRCm39) intron probably benign
R6637:Lsamp UTSW 16 41,353,743 (GRCm39) missense possibly damaging 0.86
R8970:Lsamp UTSW 16 41,994,528 (GRCm39) missense possibly damaging 0.95
R9606:Lsamp UTSW 16 41,709,292 (GRCm39) missense probably benign 0.30
X0024:Lsamp UTSW 16 41,964,921 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- ACTCCAGCGTAAAGATGAGG -3'
(R):5'- TGGCCCTTACATTACCCCAG -3'

Sequencing Primer
(F):5'- GGAAGAGACCACAAAGTCATGCC -3'
(R):5'- TACCCCAGTTTCTTAAAGAGGC -3'
Posted On 2020-07-28