Incidental Mutation 'R5868:Neu2'
| ID |
454255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neu2
|
| Ensembl Gene |
ENSMUSG00000079434 |
| Gene Name |
neuraminidase 2 |
| Synonyms |
brain sialidase, MTS, cystolic sialidase, MSS, MBS |
| MMRRC Submission |
044076-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87501749-87525567 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87524478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 154
(Q154H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070898]
[ENSMUST00000163606]
[ENSMUST00000164128]
[ENSMUST00000165109]
[ENSMUST00000166055]
[ENSMUST00000166259]
[ENSMUST00000172222]
|
| AlphaFold |
Q9JMH3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070898
AA Change: Q140H
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065439
Gene: ENSMUSG00000079434
AA Change: Q140H
| 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: Q146H
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127913
Gene: ENSMUSG00000079434
AA Change: Q146H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
38 |
351 |
1.3e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165109
AA Change: Q140H
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126509
Gene: ENSMUSG00000079434
AA Change: Q140H
| 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 |
possibly damaging
Transcript: ENSMUST00000166259
AA Change: Q140H
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132513
Gene: ENSMUSG00000079434
AA Change: Q140H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
32 |
345 |
4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172222
AA Change: Q154H
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131409
Gene: ENSMUSG00000079434
AA Change: Q154H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
46 |
359 |
1.2e-43 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.8%
|
| Validation Efficiency |
95% (58/61) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
C |
A |
11: 69,788,401 (GRCm39) |
K394N |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 114,504,380 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,609,439 (GRCm39) |
K69N |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| BC035947 |
T |
A |
1: 78,474,960 (GRCm39) |
N524I |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,985,796 (GRCm39) |
N37S |
unknown |
Het |
| Cfap91 |
T |
A |
16: 38,152,604 (GRCm39) |
D202V |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,760,473 (GRCm39) |
D648E |
probably benign |
Het |
| Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
| Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,804,011 (GRCm39) |
S1117P |
probably benign |
Het |
| Dnaaf8 |
T |
C |
16: 4,791,932 (GRCm39) |
|
noncoding transcript |
Het |
| Elmo2 |
A |
T |
2: 165,136,192 (GRCm39) |
M618K |
possibly damaging |
Het |
| Fggy |
A |
G |
4: 95,585,225 (GRCm39) |
T35A |
probably damaging |
Het |
| Gad2 |
G |
A |
2: 22,575,079 (GRCm39) |
|
probably null |
Het |
| Gtf3c2 |
A |
C |
5: 31,325,425 (GRCm39) |
F455V |
possibly damaging |
Het |
| H4c16 |
C |
T |
6: 136,781,292 (GRCm39) |
G29D |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,341,873 (GRCm39) |
A311S |
probably damaging |
Het |
| Kat6b |
G |
A |
14: 21,684,547 (GRCm39) |
D611N |
probably damaging |
Het |
| Kifap3 |
T |
C |
1: 163,693,041 (GRCm39) |
I611T |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,226,911 (GRCm39) |
Y683C |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,427,399 (GRCm39) |
N413S |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,078,518 (GRCm39) |
D691E |
possibly damaging |
Het |
| Mzf1 |
A |
T |
7: 12,787,116 (GRCm39) |
F64I |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,663,742 (GRCm39) |
|
probably null |
Het |
| Nod1 |
C |
A |
6: 54,916,312 (GRCm39) |
K128N |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,270,976 (GRCm39) |
Q215L |
possibly damaging |
Het |
| Npat |
A |
G |
9: 53,481,424 (GRCm39) |
E1044G |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,366,800 (GRCm39) |
|
probably benign |
Het |
| Pdcd6 |
T |
C |
13: 74,452,133 (GRCm39) |
D169G |
probably damaging |
Het |
| Pld3 |
G |
T |
7: 27,237,093 (GRCm39) |
T262N |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,299,704 (GRCm39) |
|
probably benign |
Het |
| Prh1 |
A |
G |
6: 132,549,174 (GRCm39) |
Q227R |
unknown |
Het |
| Prtg |
C |
A |
9: 72,716,999 (GRCm39) |
Y113* |
probably null |
Het |
| Rbm27 |
T |
A |
18: 42,433,450 (GRCm39) |
V242E |
possibly damaging |
Het |
| Ripor1 |
T |
C |
8: 106,342,636 (GRCm39) |
L198P |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,410,360 (GRCm39) |
|
probably null |
Het |
| Serpinf2 |
T |
C |
11: 75,324,065 (GRCm39) |
T321A |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,326,119 (GRCm39) |
D129G |
probably damaging |
Het |
| Slc12a2 |
C |
A |
18: 58,077,068 (GRCm39) |
P1189Q |
probably damaging |
Het |
| Slc16a9 |
T |
C |
10: 70,118,320 (GRCm39) |
M213T |
probably benign |
Het |
| Spata31f3 |
A |
T |
4: 42,871,711 (GRCm39) |
D221E |
probably damaging |
Het |
| Svil |
G |
A |
18: 5,056,854 (GRCm39) |
|
probably null |
Het |
| Synpo |
A |
G |
18: 60,737,118 (GRCm39) |
L37P |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,718,580 (GRCm39) |
H87R |
probably benign |
Het |
| Tmtc1 |
A |
T |
6: 148,139,353 (GRCm39) |
L885Q |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,586,128 (GRCm39) |
S811P |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,689,901 (GRCm39) |
V259A |
probably benign |
Het |
| Wwox |
T |
A |
8: 115,406,586 (GRCm39) |
H192Q |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCATGAATCCATGTCCC -3'
(R):5'- GAGTTTTCAGCCACAAAGTTGC -3'
Sequencing Primer
(F):5'- ATGAATCCATGTCCCTTGTATGAC -3'
(R):5'- AGCCACAAAGTTGCCTAGTTTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation