Incidental Mutation 'R4066:Nyap2'
| ID |
316095 |
| 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 |
040973-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4066 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
81054667-81319479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81219550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 524
(Y524C)
|
| 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 damaging
Transcript: ENSMUST00000068275
AA Change: Y524C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: Y524C
| 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: Y492C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: Y492C
| 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: Y492C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: Y492C
| 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: Y524C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: Y524C
| 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: Y492C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: Y492C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NYAP_N
|
43 |
416 |
1.4e-134 |
PFAM |
|
Pfam:NYAP_C
|
420 |
647 |
7.7e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.0938 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
96% (50/52) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
A |
T |
1: 63,602,584 (GRCm39) |
H582L |
probably damaging |
Het |
| Ankrd13d |
C |
T |
19: 4,320,388 (GRCm39) |
A118T |
probably benign |
Het |
| Arhgap30 |
C |
T |
1: 171,235,891 (GRCm39) |
T755I |
probably benign |
Het |
| Cab39l |
A |
G |
14: 59,784,454 (GRCm39) |
H285R |
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Dspp |
T |
A |
5: 104,325,060 (GRCm39) |
N474K |
unknown |
Het |
| Fanci |
T |
C |
7: 79,062,505 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
| Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
| Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
| Gm8220 |
A |
T |
14: 44,523,095 (GRCm39) |
R12* |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
| Hnrnpr |
C |
A |
4: 136,066,657 (GRCm39) |
|
probably benign |
Het |
| Htt |
C |
T |
5: 35,036,191 (GRCm39) |
T2046I |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,174,967 (GRCm39) |
D259G |
possibly damaging |
Het |
| Klra9 |
T |
C |
6: 130,165,707 (GRCm39) |
T103A |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,755,165 (GRCm39) |
E147G |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,698,259 (GRCm39) |
I373V |
probably benign |
Het |
| Ltb4r1 |
G |
T |
14: 56,004,952 (GRCm39) |
W85L |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Myl10 |
A |
G |
5: 136,724,304 (GRCm39) |
K70E |
probably damaging |
Het |
| Nptx2 |
G |
T |
5: 144,493,122 (GRCm39) |
W403L |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,523 (GRCm39) |
L182F |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,911 (GRCm39) |
C189R |
probably damaging |
Het |
| Or8b1 |
T |
A |
9: 38,399,778 (GRCm39) |
M151K |
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,662,812 (GRCm39) |
*64W |
probably null |
Het |
| Ppp2r5b |
T |
C |
19: 6,279,360 (GRCm39) |
Y379C |
probably damaging |
Het |
| Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,590,027 (GRCm39) |
Y673H |
probably damaging |
Het |
| Rnps1-ps |
T |
A |
6: 7,983,009 (GRCm39) |
|
noncoding transcript |
Het |
| Shcbp1 |
A |
G |
8: 4,798,716 (GRCm39) |
I401T |
probably damaging |
Het |
| Shd |
A |
T |
17: 56,278,581 (GRCm39) |
D48V |
probably damaging |
Het |
| Slc14a1 |
A |
G |
18: 78,154,592 (GRCm39) |
W209R |
probably damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,640,692 (GRCm39) |
K6E |
probably benign |
Het |
| Slco6d1 |
A |
G |
1: 98,391,571 (GRCm39) |
|
probably benign |
Het |
| Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,464,283 (GRCm39) |
S156P |
possibly damaging |
Het |
| Stmn2 |
T |
C |
3: 8,574,668 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
C |
A |
17: 72,023,233 (GRCm39) |
|
probably benign |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
| Xpo4 |
G |
T |
14: 57,825,511 (GRCm39) |
H939N |
probably benign |
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 |
|
|
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 |
|
R5453:Nyap2
|
UTSW |
1 |
81,169,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TGTACAGAACCCAGTCTCCC -3'
(R):5'- TTGGTTTTGAGACCTGTACCAG -3'
Sequencing Primer
(F):5'- GAACCCAGTCTCCCCATGG -3'
(R):5'- TGAGACCTGTACCAGACTAGATTGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation