Incidental Mutation 'R8482:Nyap2'
| ID |
657553 |
| 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 |
067926-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
81054667-81319479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81219352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 458
(Y458F)
|
| 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: Y458F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: Y458F
| 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 |
possibly damaging
Transcript: ENSMUST00000113494
AA Change: Y426F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: Y426F
| 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: Y426F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: Y426F
| 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 |
possibly damaging
Transcript: ENSMUST00000123720
AA Change: Y458F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: Y458F
| 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 |
possibly damaging
Transcript: ENSMUST00000137862
AA Change: Y426F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: Y426F
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (49/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,746,492 (GRCm39) |
V711I |
probably benign |
Het |
| Adprh |
A |
T |
16: 38,267,871 (GRCm39) |
M138K |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,591,107 (GRCm39) |
|
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,870 (GRCm39) |
T410M |
probably damaging |
Het |
| Atxn1 |
A |
T |
13: 45,721,426 (GRCm39) |
S156R |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,934,524 (GRCm39) |
T2850A |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,414,427 (GRCm39) |
D109G |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,441,147 (GRCm39) |
R196* |
probably null |
Het |
| Clec4a2 |
T |
C |
6: 123,100,630 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,720,477 (GRCm39) |
I317T |
probably damaging |
Het |
| D630003M21Rik |
G |
T |
2: 158,058,852 (GRCm39) |
S349R |
probably benign |
Het |
| Eml5 |
C |
A |
12: 98,842,560 (GRCm39) |
L179F |
probably damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Ets2 |
A |
T |
16: 95,516,019 (GRCm39) |
M200L |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,158,263 (GRCm39) |
T1116A |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,751,616 (GRCm38) |
V24A |
probably benign |
Het |
| Gm6685 |
T |
C |
11: 28,289,195 (GRCm39) |
N207S |
probably benign |
Het |
| Hdc |
G |
A |
2: 126,436,125 (GRCm39) |
T582M |
probably benign |
Het |
| Hmgxb4 |
G |
A |
8: 75,756,222 (GRCm39) |
C575Y |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,090,527 (GRCm39) |
S1164T |
probably benign |
Het |
| Ldb1 |
C |
A |
19: 46,024,709 (GRCm39) |
D5Y |
probably null |
Het |
| Lpcat1 |
G |
A |
13: 73,659,044 (GRCm39) |
R320H |
probably benign |
Het |
| Lrfn4 |
T |
C |
19: 4,664,333 (GRCm39) |
D67G |
probably damaging |
Het |
| Myo15b |
C |
T |
11: 115,774,083 (GRCm39) |
Q550* |
probably null |
Het |
| Myo18b |
C |
A |
5: 113,019,489 (GRCm39) |
E43* |
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,241,719 (GRCm39) |
C271R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,532,827 (GRCm39) |
S690G |
probably damaging |
Het |
| Ngly1 |
T |
C |
14: 16,310,377 (GRCm38) |
S501P |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 70,999,901 (GRCm39) |
|
probably null |
Het |
| Npw |
A |
G |
17: 24,876,396 (GRCm39) |
W172R |
probably benign |
Het |
| Nudt8 |
T |
C |
19: 4,050,849 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
G |
A |
2: 87,139,726 (GRCm39) |
V198I |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,258,731 (GRCm39) |
T280S |
probably benign |
Het |
| Pex1 |
A |
T |
5: 3,662,923 (GRCm39) |
I505F |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,029,864 (GRCm39) |
E756G |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,558,166 (GRCm39) |
I282V |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,330,410 (GRCm39) |
S321P |
probably benign |
Het |
| Prxl2a |
C |
T |
14: 40,719,723 (GRCm39) |
E164K |
probably benign |
Het |
| Qdpr |
G |
T |
5: 45,596,688 (GRCm39) |
Q159K |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,206 (GRCm39) |
M45V |
probably benign |
Het |
| Rnaset2b |
G |
A |
17: 7,263,908 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
A |
11: 114,563,114 (GRCm39) |
*71R |
probably null |
Het |
| Sacs |
G |
T |
14: 61,440,404 (GRCm39) |
V817L |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,495,889 (GRCm39) |
F133S |
probably damaging |
Het |
| Sgcg |
G |
A |
14: 61,477,856 (GRCm39) |
L78F |
probably damaging |
Het |
| Slc19a1 |
A |
G |
10: 76,885,497 (GRCm39) |
R466G |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,309,451 (GRCm39) |
T1736A |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,674,511 (GRCm39) |
I1854V |
probably benign |
Het |
| Zfp652 |
T |
C |
11: 95,643,719 (GRCm39) |
S306P |
probably damaging |
Het |
| Zfp998 |
C |
T |
13: 66,579,797 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
|
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'- CTGGAGGTCACAAAGCTTCCTG -3'
(R):5'- TATTCACCGCAGCATTGACC -3'
Sequencing Primer
(F):5'- CAAAGCTTCCTGTGTTGGAAAACG -3'
(R):5'- CGCAGCATTGACCATCTTGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation