Incidental Mutation 'R2039:Lman2l'
| ID |
225373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lman2l
|
| Ensembl Gene |
ENSMUSG00000001143 |
| Gene Name |
lectin, mannose-binding 2-like |
| Synonyms |
A630028F14Rik, VIP36-like |
| MMRRC Submission |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.810)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36458952-36484352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36467535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 171
(F171S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001171]
[ENSMUST00000115011]
[ENSMUST00000123583]
[ENSMUST00000125304]
|
| AlphaFold |
P59481 |
| Predicted Effect |
silent
Transcript: ENSMUST00000001171
|
| SMART Domains |
Protein: ENSMUSP00000137028
Gene: ENSMUSG00000001143
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Lectin_leg-like
|
48 |
146 |
1.5e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115011
AA Change: F182S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110663
Gene: ENSMUSG00000001143
AA Change: F182S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Lectin_leg-like
|
48 |
286 |
2e-84 |
PFAM |
|
transmembrane domain
|
324 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123583
|
| SMART Domains |
Protein: ENSMUSP00000137344
Gene: ENSMUSG00000001143
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125304
AA Change: F171S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117200
Gene: ENSMUSG00000001143
AA Change: F171S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Lectin_leg-like
|
48 |
275 |
3.2e-88 |
PFAM |
|
transmembrane domain
|
313 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134594
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152088
|
| SMART Domains |
Protein: ENSMUSP00000119798
Gene: ENSMUSG00000001143
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_leg-like
|
1 |
76 |
1.3e-22 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000192969
AA Change: F50S
|
| Meta Mutation Damage Score |
0.5211 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
probably damaging |
Het |
|
| Other mutations in Lman2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Lman2l
|
APN |
1 |
36,477,915 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02301:Lman2l
|
APN |
1 |
36,482,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03288:Lman2l
|
APN |
1 |
36,482,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03295:Lman2l
|
APN |
1 |
36,477,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Lman2l
|
UTSW |
1 |
36,463,945 (GRCm39) |
nonsense |
probably null |
|
|
R0130:Lman2l
|
UTSW |
1 |
36,463,945 (GRCm39) |
nonsense |
probably null |
|
|
R0981:Lman2l
|
UTSW |
1 |
36,484,314 (GRCm39) |
start codon destroyed |
unknown |
|
|
R2010:Lman2l
|
UTSW |
1 |
36,484,262 (GRCm39) |
nonsense |
probably null |
|
|
R2343:Lman2l
|
UTSW |
1 |
36,467,190 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4195:Lman2l
|
UTSW |
1 |
36,464,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4394:Lman2l
|
UTSW |
1 |
36,478,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4526:Lman2l
|
UTSW |
1 |
36,477,844 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5747:Lman2l
|
UTSW |
1 |
36,464,038 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6156:Lman2l
|
UTSW |
1 |
36,477,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Lman2l
|
UTSW |
1 |
36,477,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7013:Lman2l
|
UTSW |
1 |
36,482,599 (GRCm39) |
unclassified |
probably benign |
|
|
R9189:Lman2l
|
UTSW |
1 |
36,478,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9356:Lman2l
|
UTSW |
1 |
36,467,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Lman2l
|
UTSW |
1 |
36,467,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lman2l
|
UTSW |
1 |
36,467,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGTCAGGCCACAGGAG -3'
(R):5'- AGAGTTCCTAACATCCAGTGTG -3'
Sequencing Primer
(F):5'- AGTGCAGACCACCAGCTG -3'
(R):5'- TCCAGTGTGGAGCCCATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation