Incidental Mutation 'R2078:Nyap2'
| ID |
229252 |
| 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 |
040083-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2078 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
81054667-81319479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81169696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 151
(L151P)
|
| 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: L151P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: L151P
| 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: L151P
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: L151P
| 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: L151P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: L151P
| 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: L151P
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: L151P
| 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: L151P
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: L151P
| 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: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
C |
A |
1: 75,148,780 (GRCm39) |
G55C |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,802,902 (GRCm39) |
T448A |
possibly damaging |
Het |
| Atxn7 |
A |
G |
14: 14,052,975 (GRCm38) |
N138D |
probably damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,315,077 (GRCm39) |
D869V |
probably benign |
Het |
| Cps1 |
T |
G |
1: 67,196,965 (GRCm39) |
Y339D |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,234,424 (GRCm39) |
I937T |
possibly damaging |
Het |
| Dlgap4 |
T |
C |
2: 156,604,746 (GRCm39) |
S261P |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,686 (GRCm39) |
Y45H |
probably damaging |
Het |
| Ebag9 |
A |
G |
15: 44,500,200 (GRCm39) |
N157S |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,887,522 (GRCm39) |
D770G |
probably benign |
Het |
| Ezr |
A |
G |
17: 7,050,041 (GRCm39) |
M1T |
probably null |
Het |
| Fat4 |
A |
G |
3: 38,943,822 (GRCm39) |
N905S |
probably damaging |
Het |
| Fcrlb |
C |
G |
1: 170,735,650 (GRCm39) |
R208P |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,927,466 (GRCm38) |
V1892A |
probably damaging |
Het |
| Gas2 |
G |
A |
7: 51,547,073 (GRCm39) |
V75M |
probably benign |
Het |
| Gda |
T |
A |
19: 21,378,036 (GRCm39) |
D267V |
probably damaging |
Het |
| Gper1 |
A |
T |
5: 139,411,888 (GRCm39) |
I78F |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,795,325 (GRCm39) |
I2368S |
probably damaging |
Het |
| Katna1 |
C |
T |
10: 7,619,333 (GRCm39) |
P114S |
probably benign |
Het |
| Lce3c |
G |
A |
3: 92,852,758 (GRCm39) |
S73N |
unknown |
Het |
| Lrfn3 |
A |
T |
7: 30,059,879 (GRCm39) |
D115E |
possibly damaging |
Het |
| Lrrc47 |
C |
A |
4: 154,103,888 (GRCm39) |
T505K |
probably damaging |
Het |
| Mertk |
C |
T |
2: 128,636,378 (GRCm39) |
T784I |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,245,662 (GRCm39) |
I195F |
possibly damaging |
Het |
| Mff |
T |
C |
1: 82,719,642 (GRCm39) |
S207P |
probably damaging |
Het |
| Mtmr6 |
A |
G |
14: 60,529,436 (GRCm39) |
|
probably null |
Het |
| Myh9 |
T |
C |
15: 77,648,112 (GRCm39) |
K1788R |
probably benign |
Het |
| Narf |
A |
G |
11: 121,136,220 (GRCm39) |
T199A |
probably benign |
Het |
| Neurod6 |
A |
G |
6: 55,655,954 (GRCm39) |
S228P |
probably benign |
Het |
| Notch4 |
A |
T |
17: 34,787,689 (GRCm39) |
|
probably null |
Het |
| Or5b21 |
T |
A |
19: 12,839,751 (GRCm39) |
V204E |
probably benign |
Het |
| P2ry1 |
A |
G |
3: 60,911,118 (GRCm39) |
I86V |
probably damaging |
Het |
| Pafah1b2 |
G |
T |
9: 45,880,127 (GRCm39) |
D183E |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,619,276 (GRCm39) |
E179G |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,250,791 (GRCm39) |
E436G |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,163 (GRCm39) |
I1514V |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,609,364 (GRCm39) |
S948P |
probably benign |
Het |
| Rfc5 |
A |
G |
5: 117,518,868 (GRCm39) |
V296A |
probably benign |
Het |
| Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,868,839 (GRCm39) |
D626G |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,593,171 (GRCm39) |
D346G |
possibly damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,160,728 (GRCm39) |
F289I |
possibly damaging |
Het |
| Terf2ip |
A |
G |
8: 112,742,035 (GRCm39) |
N243S |
probably benign |
Het |
| Tmed5 |
A |
T |
5: 108,272,471 (GRCm39) |
V209E |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,974,462 (GRCm39) |
S603P |
possibly damaging |
Het |
| Tomm20 |
T |
C |
8: 127,663,822 (GRCm39) |
M121V |
possibly damaging |
Het |
| Tspan33 |
G |
A |
6: 29,709,970 (GRCm39) |
V45I |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
| Vsig8 |
C |
A |
1: 172,390,856 (GRCm39) |
D301E |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,145,597 (GRCm39) |
H91Q |
probably 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 |
|
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 |
|
|
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'- TTCATGACGATGCCTGCACC -3'
(R):5'- ATACTCCTGCAAGCATTCTGC -3'
Sequencing Primer
(F):5'- TGCACCTCAGGACAGACTC -3'
(R):5'- ACAATGCCTCCTACCCTTGATG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation