Incidental Mutation 'R0097:Neu2'
ID |
17340 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neu2
|
Ensembl Gene |
ENSMUSG00000079434 |
Gene Name |
neuraminidase 2 |
Synonyms |
brain sialidase, MTS, cystolic sialidase, MSS, MBS |
MMRRC Submission |
038383-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R0097 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
87501749-87525567 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87525188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 391
(D391G)
|
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 benign
Transcript: ENSMUST00000070898
AA Change: D377G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000065439 Gene: ENSMUSG00000079434 AA Change: D377G
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 benign
Transcript: ENSMUST00000164128
AA Change: D383G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127913 Gene: ENSMUSG00000079434 AA Change: D383G
Domain | Start | End | E-Value | Type |
Pfam:BNR_2
|
38 |
351 |
1.3e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165109
AA Change: D377G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126509 Gene: ENSMUSG00000079434 AA Change: D377G
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 benign
Transcript: ENSMUST00000166259
AA Change: D377G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132513 Gene: ENSMUSG00000079434 AA Change: D377G
Domain | Start | End | E-Value | Type |
Pfam:BNR_2
|
32 |
345 |
4e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172222
AA Change: D391G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131409 Gene: ENSMUSG00000079434 AA Change: D391G
Domain | Start | End | E-Value | Type |
Pfam:BNR_2
|
46 |
359 |
1.2e-43 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 89.4%
- 3x: 86.4%
- 10x: 78.0%
- 20x: 64.9%
|
Validation Efficiency |
86% (56/65) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,206,129 (GRCm39) |
I353K |
probably benign |
Het |
Albfm1 |
T |
A |
5: 90,732,795 (GRCm39) |
S535R |
probably benign |
Het |
Arfgap2 |
T |
A |
2: 91,105,160 (GRCm39) |
V422E |
probably benign |
Het |
Baz1b |
T |
C |
5: 135,227,113 (GRCm39) |
S105P |
probably benign |
Het |
Cacna1s |
T |
A |
1: 136,028,360 (GRCm39) |
M899K |
possibly damaging |
Het |
Ccnd2 |
G |
A |
6: 127,123,015 (GRCm39) |
A180V |
probably benign |
Het |
Ciao3 |
T |
C |
17: 25,995,976 (GRCm39) |
S67P |
possibly damaging |
Het |
Dmrta1 |
A |
T |
4: 89,577,109 (GRCm39) |
R188S |
probably benign |
Het |
Eml3 |
T |
A |
19: 8,914,015 (GRCm39) |
F465L |
probably benign |
Het |
Gm9938 |
T |
A |
19: 23,701,828 (GRCm39) |
|
probably benign |
Het |
Gpr87 |
G |
A |
3: 59,086,506 (GRCm39) |
T333I |
probably damaging |
Het |
Lzic |
A |
G |
4: 149,572,533 (GRCm39) |
E41G |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,649,317 (GRCm39) |
L1007Q |
possibly damaging |
Het |
Mtfr2 |
T |
A |
10: 20,224,122 (GRCm39) |
S19T |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,393,198 (GRCm39) |
M3121K |
probably damaging |
Het |
Myocd |
T |
A |
11: 65,069,840 (GRCm39) |
M667L |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,094,906 (GRCm39) |
N4882S |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,882,021 (GRCm38) |
|
probably benign |
Het |
Nol4 |
C |
A |
18: 22,852,198 (GRCm39) |
A456S |
probably benign |
Het |
Or5m13 |
T |
C |
2: 85,749,184 (GRCm39) |
V305A |
probably benign |
Het |
Padi6 |
C |
T |
4: 140,458,268 (GRCm39) |
V513M |
probably benign |
Het |
Prss38 |
A |
G |
11: 59,266,434 (GRCm39) |
L8S |
possibly damaging |
Het |
Rab5b |
A |
T |
10: 128,518,809 (GRCm39) |
F108I |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,630,400 (GRCm39) |
D2157G |
probably damaging |
Het |
Secisbp2l |
T |
C |
2: 125,613,376 (GRCm39) |
D206G |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,353,978 (GRCm39) |
I182N |
probably damaging |
Het |
Slc3a1 |
A |
T |
17: 85,340,288 (GRCm39) |
I237F |
probably damaging |
Het |
St6galnac6 |
T |
C |
2: 32,489,814 (GRCm39) |
L8P |
probably damaging |
Het |
T |
A |
T |
17: 8,658,733 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,542,133 (GRCm39) |
D1882V |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,403,451 (GRCm39) |
L283* |
probably null |
Het |
Ubp1 |
T |
C |
9: 113,802,575 (GRCm39) |
|
probably benign |
Het |
Ushbp1 |
C |
T |
8: 71,843,357 (GRCm39) |
C314Y |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,189,374 (GRCm39) |
|
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,996,625 (GRCm39) |
M298V |
probably benign |
Het |
Zmpste24 |
A |
T |
4: 120,952,740 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Neu2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02476:Neu2
|
APN |
1 |
87,524,674 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
2013-01-20 |