Incidental Mutation 'R3838:Lsamp'
ID 277028
Institutional Source Beutler Lab
Gene Symbol Lsamp
Ensembl Gene ENSMUSG00000061080
Gene Name limbic system-associated membrane protein
Synonyms B130007O04Rik, D930023J12Rik, Lam, Lamp
MMRRC Submission 040779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R3838 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 39804723-42002042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41954675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 174 (E174V)
Ref Sequence ENSEMBL: ENSMUSP00000097349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078873] [ENSMUST00000099761] [ENSMUST00000187695]
AlphaFold Q8BLK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000078873
AA Change: E174V

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077913
Gene: ENSMUSG00000061080
AA Change: E174V

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 possibly damaging
Transcript: ENSMUST00000099761
AA Change: E174V

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097349
Gene: ENSMUSG00000061080
AA Change: E174V

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: E191V

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
AA Change: E191V

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
Meta Mutation Damage Score 0.0793 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,993,041 (GRCm39) Y213H probably damaging Het
Alg8 C T 7: 97,037,752 (GRCm39) H379Y probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
Arid4a A G 12: 71,122,559 (GRCm39) E980G possibly damaging Het
Aspm C T 1: 139,405,792 (GRCm39) H1560Y probably benign Het
Atg10 A T 13: 91,085,499 (GRCm39) I150K probably damaging Het
Bud13 A C 9: 46,201,490 (GRCm39) Q387P possibly damaging Het
Champ1 A G 8: 13,929,939 (GRCm39) Y699C probably damaging Het
Clstn1 A G 4: 149,722,790 (GRCm39) E476G probably damaging Het
Col2a1 T C 15: 97,886,857 (GRCm39) D345G unknown Het
Col2a1 A T 15: 97,898,462 (GRCm39) probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Dock4 G T 12: 40,844,623 (GRCm39) probably null Het
Epx A T 11: 87,765,656 (GRCm39) L101Q probably damaging Het
F13a1 A T 13: 37,231,398 (GRCm39) N21K probably damaging Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Foxj3 T A 4: 119,473,821 (GRCm39) H215Q possibly damaging Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmcn2 T C 2: 31,303,419 (GRCm39) L3020P probably damaging Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Ighmbp2 T C 19: 3,321,658 (GRCm39) Y367C probably benign Het
Lrrc14b A G 13: 74,511,664 (GRCm39) C139R possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msn C A X: 95,203,805 (GRCm39) Q303K probably damaging Het
Myh7b A G 2: 155,474,909 (GRCm39) K1816E probably damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Nme2 T A 11: 93,840,803 (GRCm39) E252D probably benign Het
Ntpcr G A 8: 126,464,111 (GRCm39) V79M probably damaging Het
Ogdh C T 11: 6,288,627 (GRCm39) R235* probably null Het
Or10d1 A G 9: 39,484,267 (GRCm39) V96A probably benign Het
Or10w1 A G 19: 13,632,321 (GRCm39) D176G probably benign Het
Or9k2 C A 10: 129,998,275 (GRCm39) E307* probably null Het
P3r3urf A G 4: 116,030,718 (GRCm39) T41A probably benign Het
Pcdh20 T C 14: 88,705,899 (GRCm39) N467S probably benign Het
Pkhd1 G A 1: 20,604,853 (GRCm39) T1154I possibly damaging Het
Polq G T 16: 36,898,711 (GRCm39) R2157I probably damaging Het
Reep6 C A 10: 80,171,723 (GRCm39) A533E probably damaging Het
Senp2 T C 16: 21,828,485 (GRCm39) S32P probably damaging Het
Septin11 T A 5: 93,296,258 (GRCm39) I52N probably damaging Het
Shld2 T C 14: 33,967,325 (GRCm39) D77G probably benign Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Spdye4b C T 5: 143,178,084 (GRCm39) T11I probably benign Het
Srrt C T 5: 137,300,387 (GRCm39) probably null Het
Sspo T A 6: 48,457,754 (GRCm39) C3085S probably damaging Het
Stim1 C T 7: 102,060,503 (GRCm39) T182I possibly damaging Het
Thbs2 C A 17: 14,908,113 (GRCm39) V217L probably benign Het
Thpo G A 16: 20,547,498 (GRCm39) R38C probably damaging Het
Tmem210 A G 2: 25,178,444 (GRCm39) E35G possibly damaging Het
Trim12c T A 7: 103,990,075 (GRCm39) probably benign Het
Tvp23b A G 11: 62,774,455 (GRCm39) H33R possibly damaging Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r73 A G 7: 85,507,258 (GRCm39) W685R probably benign Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T probably benign Het
Zfp715 A G 7: 42,949,180 (GRCm39) V260A 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
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
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'- AAAGGGCCAAGTCAGCATTG -3'
(R):5'- GAATCTGTAGAGCTCACTGGG -3'

Sequencing Primer
(F):5'- GCCAAGTCAGCATTGTTTCTAGAG -3'
(R):5'- CTGGGAGTGGAAGCGTGC -3'
Posted On 2015-04-06