Incidental Mutation 'R6610:Neu2'
| ID |
525860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neu2
|
| Ensembl Gene |
ENSMUSG00000079434 |
| Gene Name |
neuraminidase 2 |
| Synonyms |
brain sialidase, MTS, cystolic sialidase, MSS, MBS |
| MMRRC Submission |
044733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6610 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87501749-87525567 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87524407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 131
(T131S)
|
| 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: T117S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000065439
Gene: ENSMUSG00000079434
AA Change: T117S
| 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: T123S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000127913
Gene: ENSMUSG00000079434
AA Change: T123S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
38 |
351 |
1.3e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165109
AA Change: T117S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126509
Gene: ENSMUSG00000079434
AA Change: T117S
| 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: T117S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132513
Gene: ENSMUSG00000079434
AA Change: T117S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
32 |
345 |
4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172222
AA Change: T131S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000131409
Gene: ENSMUSG00000079434
AA Change: T131S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
46 |
359 |
1.2e-43 |
PFAM |
|
| Meta Mutation Damage Score |
0.0754 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| AB124611 |
A |
T |
9: 21,437,561 (GRCm39) |
M1L |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,974,190 (GRCm39) |
K271E |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,694,246 (GRCm39) |
I914T |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,612,013 (GRCm39) |
R396G |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,104,505 (GRCm39) |
K2173E |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,915,036 (GRCm39) |
D51G |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 57,976,419 (GRCm39) |
T532S |
possibly damaging |
Het |
| Ccnt1 |
T |
C |
15: 98,462,982 (GRCm39) |
I63M |
probably damaging |
Het |
| Cdc20b |
C |
T |
13: 113,200,796 (GRCm39) |
T172I |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Ces2f |
T |
G |
8: 105,676,738 (GRCm39) |
|
probably null |
Het |
| Cfh |
A |
T |
1: 140,029,486 (GRCm39) |
C597* |
probably null |
Het |
| Cntnap2 |
A |
T |
6: 45,992,191 (GRCm39) |
T373S |
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,941,470 (GRCm39) |
C64G |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 43,995,520 (GRCm39) |
F416L |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Eif4e1b |
A |
G |
13: 54,932,128 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
A |
G |
4: 56,758,236 (GRCm39) |
V1227A |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,718,180 (GRCm39) |
R256K |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,643,707 (GRCm39) |
L1054P |
possibly damaging |
Het |
| Grik1 |
A |
G |
16: 87,831,200 (GRCm39) |
I190T |
probably damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,696,857 (GRCm39) |
N438S |
probably benign |
Het |
| Igkv15-103 |
A |
T |
6: 68,414,617 (GRCm39) |
R19* |
probably null |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Lhcgr |
A |
T |
17: 89,077,307 (GRCm39) |
I93K |
possibly damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Mymk |
G |
T |
2: 26,957,405 (GRCm39) |
S29R |
possibly damaging |
Het |
| Nab2 |
A |
T |
10: 127,500,207 (GRCm39) |
I295N |
probably damaging |
Het |
| Pdcd7 |
T |
A |
9: 65,261,965 (GRCm39) |
M129K |
possibly damaging |
Het |
| Ptar1 |
A |
G |
19: 23,695,208 (GRCm39) |
H225R |
probably benign |
Het |
| Pygb |
T |
A |
2: 150,665,886 (GRCm39) |
|
probably null |
Het |
| Rpap3 |
T |
C |
15: 97,586,049 (GRCm39) |
D314G |
probably benign |
Het |
| Scara3 |
A |
G |
14: 66,168,670 (GRCm39) |
S316P |
probably damaging |
Het |
| Sec24a |
C |
T |
11: 51,587,483 (GRCm39) |
V1051I |
probably benign |
Het |
| Setdb1 |
G |
T |
3: 95,235,888 (GRCm39) |
A841D |
probably damaging |
Het |
| Stk32b |
G |
A |
5: 37,606,022 (GRCm39) |
T407I |
probably benign |
Het |
| Tcte2 |
G |
A |
17: 13,948,250 (GRCm39) |
Q10* |
probably null |
Het |
| Tgm2 |
C |
A |
2: 157,985,020 (GRCm39) |
E29* |
probably null |
Het |
| Trim32 |
G |
A |
4: 65,533,308 (GRCm39) |
V622M |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Vmn1r123 |
A |
G |
7: 20,896,515 (GRCm39) |
N136D |
probably benign |
Het |
| Vmn2r31 |
A |
T |
7: 7,387,588 (GRCm39) |
V661E |
probably damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,261,838 (GRCm39) |
F166L |
probably damaging |
Het |
| Zfp426 |
T |
C |
9: 20,384,389 (GRCm39) |
K98R |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCAGCAATCTCAAGCTTG -3'
(R):5'- TTTCCGGTAGGCATAAGCAG -3'
Sequencing Primer
(F):5'- AGCAATCTCAAGCTTGTGTTTC -3'
(R):5'- TAAGCAGGTACCAGCAGGCTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation