Incidental Mutation 'R8426:Neu2'
| ID |
653455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neu2
|
| Ensembl Gene |
ENSMUSG00000079434 |
| Gene Name |
neuraminidase 2 |
| Synonyms |
brain sialidase, MTS, cystolic sialidase, MSS, MBS |
| MMRRC Submission |
067820-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87501749-87525567 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87524387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 124
(S124L)
|
| 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: S110L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065439
Gene: ENSMUSG00000079434
AA Change: S110L
| 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: S116L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127913
Gene: ENSMUSG00000079434
AA Change: S116L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
38 |
351 |
1.3e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165109
AA Change: S110L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126509
Gene: ENSMUSG00000079434
AA Change: S110L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
32 |
345 |
4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166055
AA Change: S110L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132099
Gene: ENSMUSG00000079434
AA Change: S110L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
32 |
110 |
8e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166259
AA Change: S110L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132513
Gene: ENSMUSG00000079434
AA Change: S110L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
32 |
345 |
4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172222
AA Change: S124L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131409
Gene: ENSMUSG00000079434
AA Change: S124L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
46 |
359 |
1.2e-43 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,155,606 (GRCm39) |
H32R |
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,911,632 (GRCm39) |
|
probably null |
Het |
| Aicda |
A |
T |
6: 122,538,150 (GRCm39) |
N103Y |
probably damaging |
Het |
| Bsn |
T |
C |
9: 108,003,772 (GRCm39) |
E211G |
probably damaging |
Het |
| Casp9 |
T |
C |
4: 141,540,936 (GRCm39) |
Y435H |
probably damaging |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,493,266 (GRCm39) |
V763A |
possibly damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,639,071 (GRCm39) |
N31S |
probably benign |
Het |
| Elapor1 |
G |
A |
3: 108,378,742 (GRCm39) |
A352V |
probably damaging |
Het |
| Gm17728 |
A |
G |
17: 9,641,231 (GRCm39) |
T114A |
probably benign |
Het |
| Gnao1 |
A |
T |
8: 94,622,857 (GRCm39) |
|
probably null |
Het |
| Iffo2 |
A |
T |
4: 139,342,291 (GRCm39) |
Y451F |
probably damaging |
Het |
| Ints4 |
G |
A |
7: 97,150,239 (GRCm39) |
W258* |
probably null |
Het |
| Ipo11 |
T |
C |
13: 106,978,678 (GRCm39) |
D834G |
possibly damaging |
Het |
| Kif5a |
T |
C |
10: 127,067,358 (GRCm39) |
D853G |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,979,487 (GRCm39) |
E1655G |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,671,841 (GRCm39) |
S955N |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,388,318 (GRCm39) |
I550V |
|
Het |
| Mov10l1 |
T |
A |
15: 88,881,608 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,852,294 (GRCm39) |
D798E |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,799,576 (GRCm39) |
I1380V |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,119,870 (GRCm39) |
I543V |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 88,762,097 (GRCm39) |
R48H |
possibly damaging |
Het |
| Ogn |
C |
T |
13: 49,774,567 (GRCm39) |
R237C |
possibly damaging |
Het |
| Or10aa3 |
T |
C |
1: 173,878,146 (GRCm39) |
L69P |
probably damaging |
Het |
| Or8b46 |
A |
T |
9: 38,450,620 (GRCm39) |
Y143F |
probably damaging |
Het |
| Phf24 |
C |
T |
4: 42,933,785 (GRCm39) |
Q19* |
probably null |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ptch2 |
G |
T |
4: 116,965,369 (GRCm39) |
S318I |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,769 (GRCm39) |
M356T |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,382,105 (GRCm39) |
N529D |
probably benign |
Het |
| Smchd1 |
A |
C |
17: 71,755,598 (GRCm39) |
D261E |
probably damaging |
Het |
| Tcerg1 |
G |
A |
18: 42,681,466 (GRCm39) |
V538I |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,530,131 (GRCm39) |
M1746K |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,733,654 (GRCm39) |
I234V |
probably benign |
Het |
| Tm9sf4 |
G |
A |
2: 153,045,736 (GRCm39) |
G536D |
probably damaging |
Het |
| Tmprss11c |
G |
T |
5: 86,379,677 (GRCm39) |
N410K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Unc5d |
G |
T |
8: 29,210,016 (GRCm39) |
S440Y |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,470 (GRCm39) |
D72G |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,382 (GRCm39) |
N239D |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,577,239 (GRCm39) |
H412Q |
possibly damaging |
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 |
|
|
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 |
|
R9051:Neu2
|
UTSW |
1 |
87,524,965 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCAGCAATCTCAAGCTTGTG -3'
(R):5'- TTTCCGGTAGGCATAAGCAG -3'
Sequencing Primer
(F):5'- AGCAATCTCAAGCTTGTGTTTCTC -3'
(R):5'- TAAGCAGGTACCAGCAGGCTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation