Incidental Mutation 'R0045:Lcn5'
| ID |
18549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcn5
|
| Ensembl Gene |
ENSMUSG00000026937 |
| Gene Name |
lipocalin 5 |
| Synonyms |
MEP10, mE-RABP, Erabp |
| MMRRC Submission |
038339-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R0045 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25547964-25551989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25550710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 133
(S133P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028306]
[ENSMUST00000038482]
[ENSMUST00000100312]
[ENSMUST00000100313]
|
| AlphaFold |
A2AJB7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028306
AA Change: S133P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028306
Gene: ENSMUSG00000026937
AA Change: S133P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
41 |
180 |
1.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038482
|
| SMART Domains |
Protein: ENSMUSP00000043902
Gene: ENSMUSG00000036449
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
33 |
159 |
2.9e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100312
AA Change: S133P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097887
Gene: ENSMUSG00000026937
AA Change: S133P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
41 |
180 |
1.6e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100313
AA Change: S133P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097888
Gene: ENSMUSG00000026937
AA Change: S133P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
41 |
180 |
2.5e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143401
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 81.3%
- 3x: 72.5%
- 10x: 50.2%
- 20x: 29.9%
|
| Validation Efficiency |
92% (56/61) |
| MGI Phenotype |
FUNCTION: This gene encodes a small secreted protein that is expressed in the epididymis and binds retinoic acid. The precursor protein is processed into both a longer major form and a shorter minor form. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,235,998 (GRCm39) |
S791G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
| Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
| Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
C |
3: 106,478,133 (GRCm39) |
V155A |
possibly damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,773 (GRCm39) |
|
probably null |
Het |
| Htra1 |
T |
A |
7: 130,563,262 (GRCm39) |
S164R |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
| Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,622 (GRCm39) |
I1032T |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,363,584 (GRCm39) |
D340N |
probably benign |
Het |
| Vars1 |
A |
T |
17: 35,229,595 (GRCm39) |
H404L |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
Het |
|
| Other mutations in Lcn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01093:Lcn5
|
APN |
2 |
25,550,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02093:Lcn5
|
APN |
2 |
25,548,462 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0009:Lcn5
|
UTSW |
2 |
25,551,417 (GRCm39) |
intron |
probably benign |
|
|
R0045:Lcn5
|
UTSW |
2 |
25,550,710 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0356:Lcn5
|
UTSW |
2 |
25,550,705 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0733:Lcn5
|
UTSW |
2 |
25,551,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Lcn5
|
UTSW |
2 |
25,548,053 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4628:Lcn5
|
UTSW |
2 |
25,548,075 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4963:Lcn5
|
UTSW |
2 |
25,551,426 (GRCm39) |
missense |
probably benign |
|
|
R5437:Lcn5
|
UTSW |
2 |
25,548,023 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7624:Lcn5
|
UTSW |
2 |
25,551,426 (GRCm39) |
missense |
probably benign |
|
|
R9696:Lcn5
|
UTSW |
2 |
25,550,142 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation