Incidental Mutation 'IGL03217:Nyap2'
| ID |
413504 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nyap2
|
| Ensembl Gene |
ENSMUSG00000054976 |
| Gene Name |
neuronal tyrosine-phophorylated phosphoinositide 3-kinase adaptor 2 |
| Synonyms |
Jr6, 9430031J16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
81076950-81341764 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81087322 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 17
(D17G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068275]
[ENSMUST00000113494]
[ENSMUST00000123285]
[ENSMUST00000123720]
[ENSMUST00000137862]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068275
AA Change: D17G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: D17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
44 |
447 |
1.5e-139 |
PFAM |
|
Pfam:NYAP_C
|
496 |
709 |
5.2e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113494
AA Change: D17G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: D17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
43 |
416 |
1.4e-134 |
PFAM |
|
Pfam:NYAP_C
|
420 |
647 |
7.7e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123285
AA Change: D17G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: D17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
43 |
416 |
1.9e-134 |
PFAM |
|
Pfam:NYAP_C
|
420 |
716 |
6.3e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123720
AA Change: D17G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: D17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
43 |
448 |
1.9e-127 |
PFAM |
|
low complexity region
|
489 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
662 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137862
AA Change: D17G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: D17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
43 |
416 |
1.4e-134 |
PFAM |
|
Pfam:NYAP_C
|
420 |
647 |
7.7e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Triple KO of Nyap1, Nyap2 and Myo16 results in decreased brain weight and cortex and striatum size and reduced neurite length in cortical neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,349,995 |
I29T |
probably damaging |
Het |
| Adam2 |
G |
A |
14: 66,034,813 |
P640L |
possibly damaging |
Het |
| Ccl4 |
T |
C |
11: 83,662,678 |
S6P |
unknown |
Het |
| Cd300lf |
T |
A |
11: 115,124,291 |
T151S |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 132,018,040 |
T219A |
probably benign |
Het |
| Eml1 |
G |
T |
12: 108,534,942 |
E680D |
probably benign |
Het |
| Gm9755 |
T |
C |
8: 67,514,383 |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
T |
1: 150,743,667 |
I1232N |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,619,999 |
S170P |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,817,703 |
M536K |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,426,832 |
A559T |
possibly damaging |
Het |
| Nxf2 |
T |
C |
X: 134,955,532 |
I287V |
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,419,566 |
C270R |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 155,573,959 |
D750G |
probably damaging |
Het |
| Rrn3 |
G |
A |
16: 13,809,011 |
E490K |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,586,252 |
G519D |
possibly damaging |
Het |
| Sox5 |
A |
G |
6: 143,907,497 |
S352P |
probably damaging |
Het |
| Spg20 |
G |
T |
3: 55,128,491 |
|
probably benign |
Het |
| Sult1e1 |
T |
C |
5: 87,590,088 |
T45A |
possibly damaging |
Het |
| Tat |
G |
A |
8: 109,995,186 |
V242I |
probably benign |
Het |
| Zfp442 |
A |
G |
2: 150,409,794 |
|
probably benign |
Het |
|
| Other mutations in Nyap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00466:Nyap2
|
APN |
1 |
81191980 |
missense |
probably damaging |
0.99 |
|
IGL01660:Nyap2
|
APN |
1 |
81191927 |
missense |
probably damaging |
0.99 |
|
IGL02379:Nyap2
|
APN |
1 |
81087430 |
missense |
probably damaging |
1.00 |
|
IGL02652:Nyap2
|
APN |
1 |
81241720 |
missense |
probably damaging |
1.00 |
|
IGL03410:Nyap2
|
APN |
1 |
81241441 |
missense |
possibly damaging |
0.95 |
|
R0001:Nyap2
|
UTSW |
1 |
81192107 |
missense |
probably benign |
0.03 |
|
R0014:Nyap2
|
UTSW |
1 |
81241951 |
missense |
probably damaging |
0.99 |
|
R0506:Nyap2
|
UTSW |
1 |
81087312 |
missense |
probably damaging |
0.99 |
|
R1512:Nyap2
|
UTSW |
1 |
81241851 |
missense |
probably damaging |
0.98 |
|
R1914:Nyap2
|
UTSW |
1 |
81191887 |
missense |
probably damaging |
1.00 |
|
R2018:Nyap2
|
UTSW |
1 |
81191872 |
missense |
probably benign |
0.03 |
|
R2078:Nyap2
|
UTSW |
1 |
81191981 |
missense |
probably damaging |
1.00 |
|
R2139:Nyap2
|
UTSW |
1 |
81241268 |
missense |
probably damaging |
1.00 |
|
R2915:Nyap2
|
UTSW |
1 |
81087471 |
nonsense |
probably null |
|
|
R2972:Nyap2
|
UTSW |
1 |
81191770 |
nonsense |
probably null |
|
|
R2974:Nyap2
|
UTSW |
1 |
81191770 |
nonsense |
probably null |
|
|
R3076:Nyap2
|
UTSW |
1 |
81241971 |
critical splice donor site |
probably null |
|
|
R4066:Nyap2
|
UTSW |
1 |
81241835 |
missense |
probably damaging |
1.00 |
|
R4134:Nyap2
|
UTSW |
1 |
81241193 |
missense |
probably damaging |
0.99 |
|
R4298:Nyap2
|
UTSW |
1 |
81241096 |
missense |
probably damaging |
1.00 |
|
R4652:Nyap2
|
UTSW |
1 |
81336729 |
missense |
probably damaging |
0.98 |
|
R4788:Nyap2
|
UTSW |
1 |
81269397 |
missense |
probably benign |
|
|
R4816:Nyap2
|
UTSW |
1 |
81241313 |
missense |
probably damaging |
1.00 |
|
R5211:Nyap2
|
UTSW |
1 |
81087274 |
start codon destroyed |
probably null |
0.77 |
|
R5327:Nyap2
|
UTSW |
1 |
81192041 |
missense |
possibly damaging |
0.77 |
|
R5453:Nyap2
|
UTSW |
1 |
81192142 |
missense |
probably benign |
0.01 |
|
R7337:Nyap2
|
UTSW |
1 |
81336515 |
missense |
possibly damaging |
0.50 |
|
R7558:Nyap2
|
UTSW |
1 |
81269373 |
missense |
probably benign |
0.01 |
|
R8078:Nyap2
|
UTSW |
1 |
81241057 |
missense |
possibly damaging |
0.95 |
|
R8231:Nyap2
|
UTSW |
1 |
81192131 |
missense |
probably benign |
|
|
R8482:Nyap2
|
UTSW |
1 |
81241637 |
missense |
probably damaging |
1.00 |
|
R9047:Nyap2
|
UTSW |
1 |
81298088 |
missense |
possibly damaging |
0.95 |
|
R9056:Nyap2
|
UTSW |
1 |
81336599 |
missense |
probably benign |
0.15 |
|
R9193:Nyap2
|
UTSW |
1 |
81297997 |
missense |
probably damaging |
0.97 |
|
R9210:Nyap2
|
UTSW |
1 |
81241327 |
missense |
probably damaging |
1.00 |
|
R9260:Nyap2
|
UTSW |
1 |
81087118 |
intron |
probably benign |
|
|
X0067:Nyap2
|
UTSW |
1 |
81269319 |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2016-08-02 |
Incidental Mutation