Incidental Mutation 'R9606:Lsamp'
ID 723901
Institutional Source Beutler Lab
Gene Symbol Lsamp
Ensembl Gene ENSMUSG00000061080
Gene Name limbic system-associated membrane protein
Synonyms B130007O04Rik, D930023J12Rik, Lam, Lamp
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R9606 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 39804723-42002042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41709292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 74 (D74G)
Ref Sequence ENSEMBL: ENSMUSP00000139667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078873] [ENSMUST00000099761] [ENSMUST00000187695]
AlphaFold Q8BLK3
Predicted Effect probably benign
Transcript: ENSMUST00000078873
AA Change: D57G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077913
Gene: ENSMUSG00000061080
AA Change: D57G

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 benign
Transcript: ENSMUST00000099761
AA Change: D57G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097349
Gene: ENSMUSG00000061080
AA Change: D57G

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 probably benign
Transcript: ENSMUST00000187695
AA Change: D74G

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
AA Change: D74G

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: 99.7%
  • 20x: 99.1%
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 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,880,706 (GRCm39) Y286C probably damaging Het
Cacna1c T C 6: 118,587,455 (GRCm39) T1657A Het
Ccs A T 19: 4,882,897 (GRCm39) D151E probably benign Het
Cfap74 A G 4: 155,509,133 (GRCm39) T295A Het
Chmp4c A T 3: 10,432,222 (GRCm39) E44V probably damaging Het
Crybg2 A T 4: 133,801,383 (GRCm39) K539* probably null Het
Dgkg T C 16: 22,441,011 (GRCm39) M1V probably null Het
E2f2 T A 4: 135,911,743 (GRCm39) Y251* probably null Het
Fat2 T C 11: 55,180,093 (GRCm39) Y1416C probably damaging Het
Fgl2 T C 5: 21,577,991 (GRCm39) S93P possibly damaging Het
Hivep3 C T 4: 119,989,786 (GRCm39) T2079I probably damaging Het
Igfl3 A C 7: 17,913,920 (GRCm39) K90T possibly damaging Het
Mmrn2 C A 14: 34,119,654 (GRCm39) T211K possibly damaging Het
Mov10 A T 3: 104,707,664 (GRCm39) V570D probably benign Het
Mrc1 A T 2: 14,313,517 (GRCm39) Y916F probably benign Het
Myo10 CAGGTATAAAG CAG 15: 25,776,401 (GRCm39) probably null Het
Ndc1 T A 4: 107,246,686 (GRCm39) C370S probably damaging Het
Nln TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC 13: 104,186,924 (GRCm39) probably null Het
Nrcam A T 12: 44,609,240 (GRCm39) N455I probably damaging Het
Nrp1 G A 8: 129,229,029 (GRCm39) E836K probably benign Het
Or2t29 C T 11: 58,433,753 (GRCm39) C196Y probably damaging Het
Or5b120 A T 19: 13,479,943 (GRCm39) K79* probably null Het
Or6c216 A T 10: 129,678,625 (GRCm39) C95* probably null Het
Or8b1d A G 9: 38,558,620 (GRCm39) S67P probably damaging Het
Pcca T C 14: 122,901,717 (GRCm39) S287P probably damaging Het
Pitpnm3 T A 11: 71,955,069 (GRCm39) T482S probably benign Het
Pld2 C T 11: 70,445,893 (GRCm39) R676* probably null Het
Ppm1k T C 6: 57,491,057 (GRCm39) Y286C possibly damaging Het
Rb1 T C 14: 73,517,573 (GRCm39) N278D probably damaging Het
Sema3g T C 14: 30,943,783 (GRCm39) L221P probably damaging Het
Skint2 C T 4: 112,483,147 (GRCm39) T184I probably benign Het
Slc38a2 A G 15: 96,591,172 (GRCm39) F232S probably damaging Het
Snx6 T C 12: 54,814,811 (GRCm39) N170S probably benign Het
Sox9 T A 11: 112,673,416 (GRCm39) N2K probably damaging Het
Sp140l1 G C 1: 85,075,344 (GRCm39) probably null Het
Srpk2 T C 5: 23,729,604 (GRCm39) E345G probably benign Het
Tbc1d21 T C 9: 58,268,487 (GRCm39) M291V possibly damaging Het
Tekt2 T C 4: 126,218,693 (GRCm39) N20S probably benign Het
Tnxb T G 17: 34,914,578 (GRCm39) I1888S possibly damaging Het
Tsnaxip1 G A 8: 106,566,685 (GRCm39) E174K probably damaging Het
Ttc28 G A 5: 111,433,140 (GRCm39) R2058Q probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ttyh2 T A 11: 114,601,667 (GRCm39) D430E probably benign Het
Ubr2 C T 17: 47,245,020 (GRCm39) G1669R probably damaging Het
Vcan A T 13: 89,853,491 (GRCm39) S490T probably damaging Het
Vmn1r86 T A 7: 12,836,741 (GRCm39) D45V probably damaging Het
Wdr12 A G 1: 60,127,226 (GRCm39) V143A possibly damaging Het
Zbtb18 T A 1: 177,274,989 (GRCm39) Y116* probably null Het
Zdbf2 C T 1: 63,342,536 (GRCm39) T305I possibly damaging Het
Zfp384 T A 6: 125,007,802 (GRCm39) M244K possibly damaging Het
Zfp423 A T 8: 88,414,595 (GRCm39) V1241D probably damaging Het
Zfp574 A G 7: 24,780,640 (GRCm39) Y554C probably damaging Het
Zfp616 T C 11: 73,976,220 (GRCm39) S830P probably damaging Het
Zfp839 A G 12: 110,834,776 (GRCm39) Y677C 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
R8256:Lsamp UTSW 16 41,965,007 (GRCm39) missense probably damaging 1.00
R8970:Lsamp UTSW 16 41,994,528 (GRCm39) missense possibly damaging 0.95
X0024:Lsamp UTSW 16 41,964,921 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- ATACACTGGGTGCTGACTGG -3'
(R):5'- AAACTTGGGAGGTCTTGGGC -3'

Sequencing Primer
(F):5'- TGCTGACTGGCTCTTAAAGGAAATG -3'
(R):5'- CTCATGCTGTGTCTGAACTGAGC -3'
Posted On 2022-09-12