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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |