Incidental Mutation 'R6075:Lsamp'
| ID |
482720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lsamp
|
| Ensembl Gene |
ENSMUSG00000061080 |
| Gene Name |
limbic system-associated membrane protein |
| Synonyms |
B130007O04Rik, D930023J12Rik, Lam, Lamp |
| MMRRC Submission |
044236-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R6075 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
39804723-42002042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41954788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 229
(K229E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078873]
[ENSMUST00000099761]
[ENSMUST00000187695]
|
| AlphaFold |
Q8BLK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078873
AA Change: K212E
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000077913
Gene: ENSMUSG00000061080
AA Change: K212E
| 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 benign
Transcript: ENSMUST00000099761
AA Change: K212E
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097349
Gene: ENSMUSG00000061080
AA Change: K212E
| 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 |
probably benign
Transcript: ENSMUST00000187695
AA Change: K229E
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139667
Gene: ENSMUSG00000061080
AA Change: K229E
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,291,456 (GRCm39) |
K133M |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,091,689 (GRCm39) |
D1076E |
possibly damaging |
Het |
| Barhl1 |
T |
C |
2: 28,805,231 (GRCm39) |
Y154C |
probably damaging |
Het |
| BC048507 |
A |
G |
13: 68,011,823 (GRCm39) |
T67A |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,307,491 (GRCm39) |
I1746F |
probably damaging |
Het |
| Ccdc34 |
T |
C |
2: 109,874,580 (GRCm39) |
I313T |
possibly damaging |
Het |
| Cma1 |
T |
A |
14: 56,179,771 (GRCm39) |
I138F |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,542,008 (GRCm39) |
S23P |
unknown |
Het |
| Csmd2 |
C |
A |
4: 128,380,658 (GRCm39) |
S2071R |
probably benign |
Het |
| Cyp2j11 |
T |
G |
4: 96,233,322 (GRCm39) |
N125H |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,262,368 (GRCm39) |
R2879G |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 118,068,586 (GRCm39) |
C1591S |
probably damaging |
Het |
| Dock9 |
C |
T |
14: 121,783,385 (GRCm39) |
R2038H |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo21 |
G |
A |
5: 118,126,948 (GRCm39) |
R233H |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,805,656 (GRCm39) |
Y316C |
probably damaging |
Het |
| Gm6526 |
A |
G |
14: 43,986,331 (GRCm39) |
I86V |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,042,384 (GRCm39) |
V5E |
probably benign |
Het |
| Hat1 |
A |
T |
2: 71,240,585 (GRCm39) |
D93V |
probably benign |
Het |
| Kctd21 |
T |
A |
7: 96,996,614 (GRCm39) |
L29Q |
probably damaging |
Het |
| Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,840,825 (GRCm39) |
D210G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,689,581 (GRCm39) |
V930A |
possibly damaging |
Het |
| Megf6 |
T |
A |
4: 154,347,056 (GRCm39) |
C652* |
probably null |
Het |
| Nae1 |
A |
T |
8: 105,251,001 (GRCm39) |
L196H |
possibly damaging |
Het |
| Ncor1 |
G |
T |
11: 62,208,675 (GRCm39) |
D156E |
probably damaging |
Het |
| Nop14 |
A |
T |
5: 34,817,235 (GRCm39) |
V52E |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Parp14 |
A |
T |
16: 35,677,389 (GRCm39) |
C860S |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,692,866 (GRCm39) |
Y161C |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,968,430 (GRCm39) |
M590K |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,361,621 (GRCm39) |
I2130T |
probably damaging |
Het |
| Pudp |
C |
A |
18: 50,701,299 (GRCm39) |
G145W |
probably damaging |
Het |
| Pxk |
A |
G |
14: 8,150,964 (GRCm38) |
K423R |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,786,863 (GRCm39) |
S1584P |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,845 (GRCm39) |
R518H |
probably damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,447,092 (GRCm39) |
L200P |
probably damaging |
Het |
| Sntg1 |
T |
A |
1: 8,749,338 (GRCm39) |
*72Y |
probably null |
Het |
| Speer4f1 |
A |
C |
5: 17,684,482 (GRCm39) |
Q170P |
possibly damaging |
Het |
| Taar7d |
A |
C |
10: 23,903,558 (GRCm39) |
I147L |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,177,196 (GRCm39) |
K1284E |
possibly damaging |
Het |
| Trpm2 |
A |
C |
10: 77,770,877 (GRCm39) |
|
probably null |
Het |
| Washc2 |
T |
A |
6: 116,204,327 (GRCm39) |
S412T |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,340,628 (GRCm39) |
V82A |
possibly 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 |
|
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'- AAGGGCCAAGTCAGCATTG -3'
(R):5'- AAATTCAAAGGCCAAGTCTCG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation