Incidental Mutation 'R6637:Lsamp'
| ID |
525558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lsamp
|
| Ensembl Gene |
ENSMUSG00000061080 |
| Gene Name |
limbic system-associated membrane protein |
| Synonyms |
B130007O04Rik, D930023J12Rik, Lam, Lamp |
| MMRRC Submission |
044758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6637 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
39804723-42002042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41353743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 2
(V2D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078873]
[ENSMUST00000099761]
[ENSMUST00000187185]
[ENSMUST00000187695]
|
| AlphaFold |
Q8BLK3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078873
AA Change: V2D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077913
Gene: ENSMUSG00000061080
AA Change: V2D
| 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 |
possibly damaging
Transcript: ENSMUST00000099761
AA Change: V2D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097349
Gene: ENSMUSG00000061080
AA Change: V2D
| 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 |
noncoding transcript
Transcript: ENSMUST00000187185
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187695
|
| SMART Domains |
Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
| 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 |
|
| Meta Mutation Damage Score |
0.0894 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Adh1 |
T |
A |
3: 137,988,231 (GRCm39) |
C98* |
probably null |
Het |
| Alms1 |
A |
G |
6: 85,596,716 (GRCm39) |
H514R |
possibly damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,386,890 (GRCm39) |
T234I |
probably damaging |
Het |
| Cxadr |
C |
T |
16: 78,130,391 (GRCm39) |
T186M |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fbxo16 |
A |
G |
14: 65,533,210 (GRCm39) |
|
probably null |
Het |
| Fign |
A |
G |
2: 63,858,252 (GRCm39) |
|
probably benign |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,416,203 (GRCm39) |
|
probably null |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Kcnk5 |
A |
C |
14: 20,194,789 (GRCm39) |
M183R |
probably null |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Lrrc8b |
A |
C |
5: 105,628,137 (GRCm39) |
D161A |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,057,293 (GRCm39) |
F169Y |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or5t15 |
T |
G |
2: 86,681,784 (GRCm39) |
K86T |
probably benign |
Het |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Ston2 |
G |
C |
12: 91,680,886 (GRCm39) |
T126S |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tbr1 |
A |
G |
2: 61,641,974 (GRCm39) |
D150G |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Ubxn4 |
C |
A |
1: 128,204,824 (GRCm39) |
Q505K |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,053,200 (GRCm39) |
E405G |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,650 (GRCm39) |
I742F |
probably damaging |
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 |
|
|
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'- GGGCTTTGTTAAATCCCAGAGG -3'
(R):5'- TCCTGGCTAAATCTTCAAGTCG -3'
Sequencing Primer
(F):5'- CCAGAGGGAAAAGAGACTAAGC -3'
(R):5'- GGCAGCTGGAGTTCACTATTACAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation