Incidental Mutation 'IGL02476:Neu2'
| ID |
294956 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Neu2
|
| Ensembl Gene |
ENSMUSG00000079434 |
| Gene Name |
neuraminidase 2 |
| Synonyms |
brain sialidase, MTS, cystolic sialidase, MSS, MBS |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87501749-87525567 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87524674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 220
(W220R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070898]
[ENSMUST00000163606]
[ENSMUST00000164128]
[ENSMUST00000165109]
[ENSMUST00000166055]
[ENSMUST00000166259]
[ENSMUST00000172222]
|
| AlphaFold |
Q9JMH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070898
AA Change: W206R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065439
Gene: ENSMUSG00000079434
AA Change: W206R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
32 |
345 |
4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163606
|
| SMART Domains |
Protein: ENSMUSP00000127777
Gene: ENSMUSG00000079434
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2F27|B
|
15 |
90 |
1e-31 |
PDB |
|
SCOP:d1eur__
|
19 |
90 |
1e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164128
AA Change: W212R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127913
Gene: ENSMUSG00000079434
AA Change: W212R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
38 |
351 |
1.3e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165109
AA Change: W206R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126509
Gene: ENSMUSG00000079434
AA Change: W206R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
32 |
345 |
4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166055
|
| SMART Domains |
Protein: ENSMUSP00000132099
Gene: ENSMUSG00000079434
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
32 |
110 |
8e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166259
AA Change: W206R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132513
Gene: ENSMUSG00000079434
AA Change: W206R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
32 |
345 |
4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172222
AA Change: W220R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131409
Gene: ENSMUSG00000079434
AA Change: W220R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
46 |
359 |
1.2e-43 |
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 belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
A |
1: 74,320,683 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 75,003,386 (GRCm39) |
E4752G |
possibly damaging |
Het |
| Chd1 |
C |
T |
17: 15,954,535 (GRCm39) |
P468S |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,661,067 (GRCm39) |
D556G |
probably benign |
Het |
| Csnk1d |
A |
G |
11: 120,863,338 (GRCm39) |
Y201H |
probably damaging |
Het |
| Dhtkd1 |
A |
G |
2: 5,935,717 (GRCm39) |
S132P |
possibly damaging |
Het |
| Dhx58 |
G |
T |
11: 100,593,090 (GRCm39) |
Q206K |
probably benign |
Het |
| Dio1 |
C |
A |
4: 107,149,574 (GRCm39) |
V195F |
probably damaging |
Het |
| Dio3 |
T |
C |
12: 110,245,916 (GRCm39) |
V84A |
probably benign |
Het |
| Dnai4 |
T |
A |
4: 102,944,545 (GRCm39) |
I3L |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,314,693 (GRCm39) |
K163R |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,950 (GRCm39) |
S375T |
probably damaging |
Het |
| Fbrs |
A |
G |
7: 127,086,841 (GRCm39) |
D73G |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,390,393 (GRCm39) |
|
probably benign |
Het |
| Frmpd4 |
A |
G |
X: 166,280,851 (GRCm39) |
V343A |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,468 (GRCm39) |
D283G |
probably benign |
Het |
| Ghr |
T |
C |
15: 3,349,528 (GRCm39) |
D550G |
probably damaging |
Het |
| Glycam1 |
G |
A |
15: 103,471,307 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,369,417 (GRCm39) |
S1374P |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,565,197 (GRCm39) |
M1037K |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,945,242 (GRCm39) |
L438P |
probably damaging |
Het |
| Ifi205 |
G |
T |
1: 173,842,627 (GRCm39) |
N356K |
probably damaging |
Het |
| Ifi206 |
A |
G |
1: 173,309,132 (GRCm39) |
L288P |
probably benign |
Het |
| Ift57 |
T |
C |
16: 49,584,252 (GRCm39) |
V291A |
probably benign |
Het |
| Kif13a |
A |
C |
13: 46,938,772 (GRCm39) |
C166G |
probably damaging |
Het |
| Lypd6 |
A |
G |
2: 50,080,740 (GRCm39) |
T143A |
possibly damaging |
Het |
| Mtus2 |
G |
A |
5: 148,014,748 (GRCm39) |
A514T |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,377,612 (GRCm39) |
S155G |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,505,015 (GRCm39) |
E286G |
probably damaging |
Het |
| Onecut3 |
A |
G |
10: 80,349,724 (GRCm39) |
E406G |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,921,799 (GRCm39) |
D236E |
probably benign |
Het |
| Pck1 |
A |
G |
2: 173,000,075 (GRCm39) |
H502R |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,102,188 (GRCm39) |
Y313C |
probably damaging |
Het |
| Rhox3f |
A |
T |
X: 36,763,192 (GRCm39) |
|
probably benign |
Het |
| Rpl34 |
A |
G |
3: 130,520,613 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,595,031 (GRCm39) |
K31E |
probably damaging |
Het |
| Septin11 |
T |
C |
5: 93,296,443 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
T |
A |
18: 36,668,498 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
A |
2: 127,059,408 (GRCm39) |
S434T |
probably benign |
Het |
| Snx13 |
A |
T |
12: 35,136,940 (GRCm39) |
I134F |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,675,369 (GRCm39) |
S407P |
probably benign |
Het |
| Tbc1d19 |
T |
C |
5: 54,046,755 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
G |
T |
10: 56,074,638 (GRCm39) |
Q192K |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,148,560 (GRCm39) |
C1681* |
probably null |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,043 (GRCm39) |
I148F |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,162,781 (GRCm39) |
V187A |
possibly damaging |
Het |
|
| Other mutations in Neu2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03143:Neu2
|
APN |
1 |
87,524,698 (GRCm39) |
nonsense |
probably null |
|
|
R0083:Neu2
|
UTSW |
1 |
87,524,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Neu2
|
UTSW |
1 |
87,525,188 (GRCm39) |
missense |
probably benign |
|
|
R0097:Neu2
|
UTSW |
1 |
87,525,188 (GRCm39) |
missense |
probably benign |
|
|
R1109:Neu2
|
UTSW |
1 |
87,524,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Neu2
|
UTSW |
1 |
87,525,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2897:Neu2
|
UTSW |
1 |
87,522,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2898:Neu2
|
UTSW |
1 |
87,522,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5395:Neu2
|
UTSW |
1 |
87,524,397 (GRCm39) |
splice site |
probably null |
|
|
R5867:Neu2
|
UTSW |
1 |
87,524,478 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5868:Neu2
|
UTSW |
1 |
87,524,478 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6468:Neu2
|
UTSW |
1 |
87,524,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6544:Neu2
|
UTSW |
1 |
87,524,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Neu2
|
UTSW |
1 |
87,524,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6831:Neu2
|
UTSW |
1 |
87,524,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Neu2
|
UTSW |
1 |
87,524,297 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8061:Neu2
|
UTSW |
1 |
87,524,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8172:Neu2
|
UTSW |
1 |
87,524,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Neu2
|
UTSW |
1 |
87,524,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Neu2
|
UTSW |
1 |
87,524,965 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation