Incidental Mutation 'R3838:Lsamp'
ID277028
Institutional Source Beutler Lab
Gene Symbol Lsamp
Ensembl Gene ENSMUSG00000061080
Gene Namelimbic system-associated membrane protein
SynonymsLamp, D930023J12Rik, Lam, B130007O04Rik
MMRRC Submission 040779-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #R3838 (G1)
Quality Score225
Status Not validated
Chromosome16
Chromosomal Location39984361-42181679 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 42134312 bp
ZygosityHeterozygous
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]
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
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
1700042G07Rik A G 4: 116,173,521 T41A probably benign Het
4930486L24Rik A G 13: 60,845,227 Y213H probably damaging Het
Alg8 C T 7: 97,388,545 H379Y probably damaging Het
Arhgef25 T C 10: 127,189,736 T12A probably benign Het
Arid4a A G 12: 71,075,785 E980G possibly damaging Het
Aspm C T 1: 139,478,054 H1560Y probably benign Het
Atg10 A T 13: 90,937,380 I150K probably damaging Het
Bud13 A C 9: 46,290,192 Q387P possibly damaging Het
Champ1 A G 8: 13,879,939 Y699C probably damaging Het
Clstn1 A G 4: 149,638,333 E476G probably damaging Het
Col2a1 T C 15: 97,988,976 D345G unknown Het
Col2a1 A T 15: 98,000,581 probably benign Het
Col9a2 C G 4: 121,054,258 R599G probably damaging Het
Dnajb2 G A 1: 75,241,480 probably null Het
Dock4 G T 12: 40,794,624 probably null Het
Epx A T 11: 87,874,830 L101Q probably damaging Het
F13a1 A T 13: 37,047,424 N21K probably damaging Het
Fam13c C T 10: 70,542,648 S336L probably damaging Het
Fam35a T C 14: 34,245,368 D77G probably benign Het
Foxj3 T A 4: 119,616,624 H215Q possibly damaging Het
Gcnt4 A T 13: 96,947,014 R273* probably null Het
Gpam T C 19: 55,080,458 N450S probably benign Het
Hivep2 C A 10: 14,128,969 T437K probably benign Het
Hmcn2 T C 2: 31,413,407 L3020P probably damaging Het
Hmgcr A G 13: 96,659,089 I324T probably benign Het
Ighmbp2 T C 19: 3,271,658 Y367C probably benign Het
Lrrc14b A G 13: 74,363,545 C139R possibly damaging Het
Mid1ip1 T C X: 10,718,381 V51A possibly damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Msn C A X: 96,160,199 Q303K probably damaging Het
Myh7b A G 2: 155,632,989 K1816E probably damaging Het
Nap1l1 T A 10: 111,495,322 probably null Het
Nme2 T A 11: 93,949,977 E252D probably benign Het
Ntpcr G A 8: 125,737,372 V79M probably damaging Het
Ogdh C T 11: 6,338,627 R235* probably null Het
Olfr1490 A G 19: 13,654,957 D176G probably benign Het
Olfr825 C A 10: 130,162,406 E307* probably null Het
Olfr959 A G 9: 39,572,971 V96A probably benign Het
Pcdh20 T C 14: 88,468,463 N467S probably benign Het
Pkhd1 G A 1: 20,534,629 T1154I possibly damaging Het
Polq G T 16: 37,078,349 R2157I probably damaging Het
Reep6 C A 10: 80,335,889 A533E probably damaging Het
Senp2 T C 16: 22,009,735 S32P probably damaging Het
Sept11 T A 5: 93,148,399 I52N probably damaging Het
Slc17a4 C T 13: 23,901,769 R387H probably benign Het
Spdye4b C T 5: 143,192,329 T11I probably benign Het
Srrt C T 5: 137,302,125 probably null Het
Sspo T A 6: 48,480,820 C3085S probably damaging Het
Stim1 C T 7: 102,411,296 T182I possibly damaging Het
Thbs2 C A 17: 14,687,851 V217L probably benign Het
Thpo G A 16: 20,728,748 R38C probably damaging Het
Tmem210 A G 2: 25,288,432 E35G possibly damaging Het
Trim12c T A 7: 104,340,868 probably benign Het
Tvp23b A G 11: 62,883,629 H33R possibly damaging Het
Usp14 A G 18: 10,024,532 probably null Het
Vmn2r73 A G 7: 85,858,050 W685R probably benign Het
Zfp618 G A 4: 63,133,564 A861T probably benign Het
Zfp715 A G 7: 43,299,756 V260A probably benign Het
Other mutations in Lsamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01665:Lsamp APN 16 42144012 nonsense probably null
IGL02869:Lsamp APN 16 42144715 missense probably benign 0.00
R0930:Lsamp UTSW 16 41888964 missense probably benign 0.25
R1147:Lsamp UTSW 16 42174136 splice site probably benign
R1170:Lsamp UTSW 16 42151229 intron probably benign
R1649:Lsamp UTSW 16 41955298 missense probably benign 0.00
R1656:Lsamp UTSW 16 41955319 missense probably damaging 1.00
R1976:Lsamp UTSW 16 41889067 missense probably damaging 0.99
R3613:Lsamp UTSW 16 41955323 missense probably benign 0.03
R3732:Lsamp UTSW 16 42144572 missense probably damaging 1.00
R3734:Lsamp UTSW 16 42144770 missense probably benign
R3890:Lsamp UTSW 16 39984692 missense probably benign 0.01
R3891:Lsamp UTSW 16 39984692 missense probably benign 0.01
R4554:Lsamp UTSW 16 42144075 missense probably damaging 1.00
R4672:Lsamp UTSW 16 41955334 missense probably damaging 1.00
R5151:Lsamp UTSW 16 42134429 missense probably damaging 1.00
R5617:Lsamp UTSW 16 42134423 missense probably damaging 1.00
R6075:Lsamp UTSW 16 42134425 missense probably benign 0.19
R6217:Lsamp UTSW 16 42134312 missense possibly damaging 0.54
R6477:Lsamp UTSW 16 42168165 intron probably benign
R6637:Lsamp UTSW 16 41533381 missense possibly damaging 0.86
R8256:Lsamp UTSW 16 42144644 missense probably damaging 1.00
X0024:Lsamp UTSW 16 42144558 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 On2015-04-06