Incidental Mutation 'R6217:Lsamp'
ID 503805
Institutional Source Beutler Lab
Gene Symbol Lsamp
Ensembl Gene ENSMUSG00000061080
Gene Name limbic system-associated membrane protein
Synonyms B130007O04Rik, D930023J12Rik, Lam, Lamp
MMRRC Submission 044350-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6217 (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 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (59/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
Adamts20 T C 15: 94,236,596 (GRCm39) D808G probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arsk T A 13: 76,239,935 (GRCm39) Q46L unknown Het
Asnsd1 A G 1: 53,387,187 (GRCm39) F147L probably benign Het
Atp5f1a T A 18: 77,869,056 (GRCm39) S427T probably benign Het
Atp6v1b2 A C 8: 69,562,530 (GRCm39) probably null Het
AU021092 T A 16: 5,030,050 (GRCm39) T322S possibly damaging Het
Bcl7c A T 7: 127,307,698 (GRCm39) M1K probably null Het
Cacna1i T C 15: 80,273,333 (GRCm39) V1673A probably damaging Het
Ccdc146 A T 5: 21,522,900 (GRCm39) probably null Het
Cdc7 A G 5: 107,120,660 (GRCm39) D122G probably damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Chd3 T A 11: 69,236,361 (GRCm39) Q1950L probably damaging Het
Cutc T C 19: 43,748,436 (GRCm39) L111S probably damaging Het
Cyp2j6 A G 4: 96,406,398 (GRCm39) F458L probably damaging Het
Ddhd1 T C 14: 45,856,971 (GRCm39) probably null Het
Dstyk T C 1: 132,387,677 (GRCm39) S804P probably damaging Het
Ech1 A G 7: 28,531,261 (GRCm39) D283G possibly damaging Het
Exosc10 A G 4: 148,666,768 (GRCm39) probably null Het
Fancg A C 4: 43,010,084 (GRCm39) V5G probably benign Het
Fbxo11 A G 17: 88,316,332 (GRCm39) V394A probably benign Het
Fcmr C T 1: 130,806,060 (GRCm39) R339W probably damaging Het
Fhip2b T C 14: 70,829,198 (GRCm39) probably null Het
Fsip2 T A 2: 82,818,762 (GRCm39) L4832M possibly damaging Het
Gab1 A G 8: 81,518,237 (GRCm39) V125A possibly damaging Het
Gabrr1 A T 4: 33,149,026 (GRCm39) probably null Het
Gon4l T C 3: 88,799,968 (GRCm39) V871A possibly damaging Het
Hspg2 A G 4: 137,267,559 (GRCm39) T2056A probably damaging Het
Lrrc3 T A 10: 77,736,843 (GRCm39) T198S probably benign Het
Ltbr C T 6: 125,284,417 (GRCm39) V342M probably damaging Het
Muc16 A T 9: 18,566,742 (GRCm39) S1926T unknown Het
Ntn1 C A 11: 68,104,158 (GRCm39) V497F possibly damaging Het
Or2ag18 A T 7: 106,405,279 (GRCm39) L130Q probably damaging Het
Or5k17 T C 16: 58,746,877 (GRCm39) D19G probably benign Het
Or8g22 A T 9: 38,958,039 (GRCm39) *270R probably null Het
Osmr T C 15: 6,853,047 (GRCm39) Y615C probably damaging Het
Pcdhgb2 T C 18: 37,823,054 (GRCm39) V15A possibly damaging Het
Pkd2l2 A G 18: 34,547,733 (GRCm39) N162S probably benign Het
Ppp1r12a G A 10: 108,076,045 (GRCm39) probably null Het
Prss59 G A 6: 40,903,019 (GRCm39) P118S possibly damaging Het
Prtg C T 9: 72,812,076 (GRCm39) P899S probably damaging Het
Ptprn A T 1: 75,224,810 (GRCm39) S912R probably damaging Het
Rex2 A G 4: 147,141,931 (GRCm39) T140A possibly damaging Het
Ryr2 T G 13: 11,848,964 (GRCm39) D339A probably damaging Het
Sf3b1 C T 1: 55,046,677 (GRCm39) R289H probably damaging Het
Slc17a9 A G 2: 180,379,455 (GRCm39) D309G probably benign Het
Slc4a10 A G 2: 62,134,295 (GRCm39) R1004G probably benign Het
Sprr2f A T 3: 92,273,366 (GRCm39) Q55L unknown Het
Syne1 C T 10: 5,243,761 (GRCm39) G2801D probably benign Het
Tenm3 A T 8: 48,746,700 (GRCm39) V1026D probably damaging Het
Ticam1 A T 17: 56,577,730 (GRCm39) I455N probably damaging Het
Tmem161b A G 13: 84,399,363 (GRCm39) I6M possibly damaging Het
Ubn1 A G 16: 4,895,096 (GRCm39) E714G probably damaging Het
Ush2a T G 1: 188,475,651 (GRCm39) probably null Het
Usp19 G A 9: 108,377,343 (GRCm39) V874M probably damaging Het
Vmn2r106 T C 17: 20,488,501 (GRCm39) T633A probably benign Het
Vmn2r75 A T 7: 85,815,375 (GRCm39) probably benign Het
Zfyve27 T C 19: 42,178,016 (GRCm39) V386A probably damaging Het
Zscan20 A T 4: 128,498,327 (GRCm39) W24R probably damaging 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
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'- AAGGGCCAAGTCAGCATTG -3'
(R):5'- TAATGGAATCTGTAGAGCTCACTG -3'

Sequencing Primer
(F):5'- GCCAAGTCAGCATTGTTTCTAGAG -3'
(R):5'- CTGGGAGTGGAAGCGTGC -3'
Posted On 2018-02-27