Incidental Mutation 'R5453:Nyap2'
| ID |
432611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nyap2
|
| Ensembl Gene |
ENSMUSG00000054976 |
| Gene Name |
neuronal tyrosine-phophorylated phosphoinositide 3-kinase adaptor 2 |
| Synonyms |
Jr6, 9430031J16Rik |
| MMRRC Submission |
043017-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
81054667-81319479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 81169857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 205
(I205L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065468
(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: I205L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: I205L
| 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 benign
Transcript: ENSMUST00000113494
|
| SMART Domains |
Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
| 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 benign
Transcript: ENSMUST00000123285
|
| SMART Domains |
Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
| 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 benign
Transcript: ENSMUST00000123720
AA Change: I205L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: I205L
| 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 benign
Transcript: ENSMUST00000137862
|
| SMART Domains |
Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,223,969 (GRCm39) |
E1253G |
possibly damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,256,647 (GRCm39) |
F640S |
probably damaging |
Het |
| Anxa1 |
C |
T |
19: 20,357,703 (GRCm39) |
|
probably null |
Het |
| Babam2 |
A |
G |
5: 32,164,590 (GRCm39) |
E288G |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,289,500 (GRCm39) |
A406V |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,925,706 (GRCm39) |
D358V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,131 (GRCm39) |
I45V |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 133,806,147 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,599,099 (GRCm39) |
D1818G |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,250,013 (GRCm39) |
K758R |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,908,160 (GRCm39) |
V2614A |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,003,972 (GRCm39) |
I190T |
possibly damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,235,480 (GRCm39) |
S136P |
probably damaging |
Het |
| Hras |
A |
C |
7: 140,772,768 (GRCm39) |
V29G |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,192,877 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
G |
16: 16,681,558 (GRCm39) |
|
probably null |
Het |
| Insr |
G |
A |
8: 3,205,694 (GRCm39) |
T1365I |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,923,247 (GRCm39) |
W187R |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,540,728 (GRCm39) |
F940L |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,172,249 (GRCm39) |
R725K |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Mrps35 |
A |
G |
6: 146,972,115 (GRCm39) |
S253G |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,438,837 (GRCm39) |
E2015K |
probably damaging |
Het |
| Or12d13 |
T |
C |
17: 37,647,953 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or6k14 |
A |
G |
1: 173,927,033 (GRCm39) |
K3R |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,211,555 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
A |
G |
5: 66,184,525 (GRCm39) |
V26A |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,151,989 (GRCm39) |
I190N |
probably damaging |
Het |
| Spmip4 |
A |
G |
6: 50,572,776 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,133,905 (GRCm39) |
N1150K |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,689 (GRCm39) |
G427W |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,475,722 (GRCm39) |
E138G |
possibly damaging |
Het |
|
| Other mutations in Nyap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00466:Nyap2
|
APN |
1 |
81,169,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01660:Nyap2
|
APN |
1 |
81,169,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02379:Nyap2
|
APN |
1 |
81,065,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02652:Nyap2
|
APN |
1 |
81,219,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03217:Nyap2
|
APN |
1 |
81,065,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Nyap2
|
APN |
1 |
81,219,156 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0001:Nyap2
|
UTSW |
1 |
81,169,822 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0014:Nyap2
|
UTSW |
1 |
81,219,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0506:Nyap2
|
UTSW |
1 |
81,065,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1512:Nyap2
|
UTSW |
1 |
81,219,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1914:Nyap2
|
UTSW |
1 |
81,169,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Nyap2
|
UTSW |
1 |
81,169,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2078:Nyap2
|
UTSW |
1 |
81,169,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Nyap2
|
UTSW |
1 |
81,218,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Nyap2
|
UTSW |
1 |
81,065,188 (GRCm39) |
nonsense |
probably null |
|
|
R2972:Nyap2
|
UTSW |
1 |
81,169,485 (GRCm39) |
nonsense |
probably null |
|
|
R2974:Nyap2
|
UTSW |
1 |
81,169,485 (GRCm39) |
nonsense |
probably null |
|
|
R3076:Nyap2
|
UTSW |
1 |
81,219,686 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4066:Nyap2
|
UTSW |
1 |
81,219,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Nyap2
|
UTSW |
1 |
81,218,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4298:Nyap2
|
UTSW |
1 |
81,218,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Nyap2
|
UTSW |
1 |
81,314,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4788:Nyap2
|
UTSW |
1 |
81,247,112 (GRCm39) |
missense |
probably benign |
|
|
R4816:Nyap2
|
UTSW |
1 |
81,219,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5211:Nyap2
|
UTSW |
1 |
81,064,991 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R5327:Nyap2
|
UTSW |
1 |
81,169,756 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7337:Nyap2
|
UTSW |
1 |
81,314,230 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7558:Nyap2
|
UTSW |
1 |
81,247,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8078:Nyap2
|
UTSW |
1 |
81,218,772 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8231:Nyap2
|
UTSW |
1 |
81,169,846 (GRCm39) |
missense |
probably benign |
|
|
R8482:Nyap2
|
UTSW |
1 |
81,219,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9047:Nyap2
|
UTSW |
1 |
81,275,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9056:Nyap2
|
UTSW |
1 |
81,314,314 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9193:Nyap2
|
UTSW |
1 |
81,275,712 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9210:Nyap2
|
UTSW |
1 |
81,219,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Nyap2
|
UTSW |
1 |
81,064,835 (GRCm39) |
intron |
probably benign |
|
|
X0067:Nyap2
|
UTSW |
1 |
81,247,034 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTGGATCACGAAGACAAC -3'
(R):5'- AGTTTATACATTGCCTTGCCTGG -3'
Sequencing Primer
(F):5'- GCGAGACCCCAGCACTAAG -3'
(R):5'- ATACATTGCCTTGCCTGGTTTTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation