Incidental Mutation 'IGL01913:Lcn2'
| ID |
179864 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lcn2
|
| Ensembl Gene |
ENSMUSG00000026822 |
| Gene Name |
lipocalin 2 |
| Synonyms |
24p3, neu-related lipocalin, NGAL, NRL |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01913
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32274649-32277751 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32277157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 139
(V139A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050785]
[ENSMUST00000192241]
|
| AlphaFold |
P11672 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050785
AA Change: V53A
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000053962
Gene: ENSMUSG00000026822
AA Change: V53A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
48 |
195 |
2.2e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155830
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192241
AA Change: V139A
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141430
Gene: ENSMUSG00000026822
AA Change: V139A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
Pfam:Lipocalin
|
134 |
271 |
5.3e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the lipocalin family. Members of this family transport small hydrophobic molecules such as lipids, steroid hormones and retinoids. The protein encoded by this gene is a neutrophil gelatinase-associated lipocalin and plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores. The presence of this protein in blood and urine is an early biomarker of acute kidney injury. This protein is thought to be be involved in multiple cellular processes, including maintenance of skin homeostasis, and suppression of invasiveness and metastasis. Mice lacking this gene are more susceptible to bacterial infection than wild type mice. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutants are more susceptible to infection with bacteria that utilize enterochelin-type siderophores to acquire iron and impaired thermogenesis. Mice homozygous for another knock-out allele exhibit apoptotic defects in hematopoietic cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,789,625 (GRCm39) |
E456G |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,983,428 (GRCm39) |
K1571* |
probably null |
Het |
| Arhgef2 |
G |
A |
3: 88,539,226 (GRCm39) |
V58M |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,309,652 (GRCm39) |
|
probably null |
Het |
| C3 |
T |
C |
17: 57,520,767 (GRCm39) |
N1163S |
probably null |
Het |
| Cbfa2t2 |
A |
G |
2: 154,359,693 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,313,899 (GRCm39) |
V1905A |
possibly damaging |
Het |
| Dsg1a |
C |
T |
18: 20,455,293 (GRCm39) |
R86C |
probably damaging |
Het |
| Fastkd1 |
A |
T |
2: 69,538,845 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,910,086 (GRCm39) |
D1972G |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,637 (GRCm39) |
T163A |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H6pd |
A |
T |
4: 150,078,920 (GRCm39) |
|
probably benign |
Het |
| Klhdc2 |
T |
G |
12: 69,349,132 (GRCm39) |
S90A |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,204,365 (GRCm39) |
E1417G |
probably benign |
Het |
| Or4a77 |
T |
G |
2: 89,487,684 (GRCm39) |
I34L |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,294 (GRCm39) |
C96S |
probably damaging |
Het |
| Or5t17 |
A |
T |
2: 86,833,164 (GRCm39) |
M284L |
possibly damaging |
Het |
| Pcdh18 |
C |
A |
3: 49,709,698 (GRCm39) |
S539I |
possibly damaging |
Het |
| Stat1 |
T |
C |
1: 52,165,716 (GRCm39) |
I104T |
probably benign |
Het |
| Tmem151a |
G |
A |
19: 5,131,920 (GRCm39) |
R429C |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdpcp |
A |
G |
11: 21,698,931 (GRCm39) |
D570G |
probably damaging |
Het |
| Zbtb47 |
T |
C |
9: 121,593,035 (GRCm39) |
C452R |
probably damaging |
Het |
| Zfp429 |
T |
C |
13: 67,544,793 (GRCm39) |
Y27C |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,012,138 (GRCm39) |
V1368A |
probably benign |
Het |
|
| Other mutations in Lcn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00935:Lcn2
|
APN |
2 |
32,277,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01327:Lcn2
|
APN |
2 |
32,276,030 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02108:Lcn2
|
APN |
2 |
32,277,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02215:Lcn2
|
APN |
2 |
32,274,877 (GRCm39) |
makesense |
probably null |
|
|
IGL02577:Lcn2
|
APN |
2 |
32,277,101 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03129:Lcn2
|
APN |
2 |
32,277,716 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0302:Lcn2
|
UTSW |
2 |
32,274,901 (GRCm39) |
unclassified |
probably benign |
|
|
R1864:Lcn2
|
UTSW |
2 |
32,275,434 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1865:Lcn2
|
UTSW |
2 |
32,275,434 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4093:Lcn2
|
UTSW |
2 |
32,277,728 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4621:Lcn2
|
UTSW |
2 |
32,274,655 (GRCm39) |
unclassified |
probably benign |
|
|
R5236:Lcn2
|
UTSW |
2 |
32,275,973 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5716:Lcn2
|
UTSW |
2 |
32,275,825 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6785:Lcn2
|
UTSW |
2 |
32,277,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7059:Lcn2
|
UTSW |
2 |
32,277,608 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7514:Lcn2
|
UTSW |
2 |
32,277,861 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7596:Lcn2
|
UTSW |
2 |
32,275,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7694:Lcn2
|
UTSW |
2 |
32,278,042 (GRCm39) |
missense |
unknown |
|
|
R7778:Lcn2
|
UTSW |
2 |
32,277,927 (GRCm39) |
missense |
probably benign |
|
|
R8913:Lcn2
|
UTSW |
2 |
32,277,158 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2014-05-07 |
Incidental Mutation