Incidental Mutation 'R2974:Nyap2'
| ID |
255304 |
| 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 |
040527-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2974 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
81054667-81319479 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 81169485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 81
(R81*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068275]
[ENSMUST00000113494]
[ENSMUST00000123285]
[ENSMUST00000123720]
[ENSMUST00000137862]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068275
AA Change: R81*
|
| SMART Domains |
Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: R81*
| 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 null
Transcript: ENSMUST00000113494
AA Change: R81*
|
| SMART Domains |
Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: R81*
| 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 null
Transcript: ENSMUST00000123285
AA Change: R81*
|
| SMART Domains |
Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: R81*
| 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 null
Transcript: ENSMUST00000123720
AA Change: R81*
|
| SMART Domains |
Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: R81*
| 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 null
Transcript: ENSMUST00000137862
AA Change: R81*
|
| SMART Domains |
Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: R81*
| 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 |
0.9717 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (38/39) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,152,499 (GRCm39) |
H583R |
possibly damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,325,074 (GRCm39) |
|
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,091,361 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,582,806 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
G |
1: 123,339,434 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Gse1 |
C |
A |
8: 121,297,636 (GRCm39) |
|
probably benign |
Het |
| Med15 |
T |
C |
16: 17,470,575 (GRCm39) |
Y744C |
probably damaging |
Het |
| Nlrp4d |
A |
G |
7: 10,112,367 (GRCm39) |
|
probably benign |
Het |
| Or4p21 |
A |
T |
2: 88,276,918 (GRCm39) |
C121* |
probably null |
Het |
| Or8g30 |
T |
C |
9: 39,230,292 (GRCm39) |
N206S |
probably damaging |
Het |
| Phax |
T |
A |
18: 56,706,134 (GRCm39) |
M8K |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,558,957 (GRCm39) |
T476S |
probably damaging |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Simc1 |
A |
G |
13: 54,698,274 (GRCm39) |
D397G |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,964,262 (GRCm39) |
N203D |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tnip1 |
C |
T |
11: 54,824,809 (GRCm39) |
|
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ube2d2a |
T |
A |
18: 35,933,225 (GRCm39) |
D87E |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
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 |
|
|
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'- TGCCATTTAAGACTGGTCTGAAC -3'
(R):5'- ACGAAGTGCTAAGCTTAGTGC -3'
Sequencing Primer
(F):5'- TTTAAGACTGGTCTGAACGCTAACCC -3'
(R):5'- CTTAGTGCTGGGGTCTCGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation