Incidental Mutation 'R2915:Nyap2'
ID |
254825 |
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 |
040502-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2915 (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 81065188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 67
(R67*)
|
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: R67*
|
SMART Domains |
Protein: ENSMUSP00000065468 Gene: ENSMUSG00000054976 AA Change: R67*
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: R67*
|
SMART Domains |
Protein: ENSMUSP00000109122 Gene: ENSMUSG00000054976 AA Change: R67*
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: R67*
|
SMART Domains |
Protein: ENSMUSP00000122935 Gene: ENSMUSG00000054976 AA Change: R67*
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: R67*
|
SMART Domains |
Protein: ENSMUSP00000117661 Gene: ENSMUSG00000054976 AA Change: R67*
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: R67*
|
SMART Domains |
Protein: ENSMUSP00000120767 Gene: ENSMUSG00000054976 AA Change: R67*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (50/51) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Arhgap11a |
A |
G |
2: 113,663,853 (GRCm39) |
V810A |
probably damaging |
Het |
B3gnt6 |
T |
C |
7: 97,842,800 (GRCm39) |
N387D |
probably benign |
Het |
Col5a2 |
C |
G |
1: 45,452,656 (GRCm39) |
G358R |
probably damaging |
Het |
Cracr2a |
A |
G |
6: 127,588,468 (GRCm39) |
K209R |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,464,741 (GRCm39) |
N32S |
unknown |
Het |
Dusp13b |
T |
A |
14: 21,790,205 (GRCm39) |
N47I |
probably damaging |
Het |
Elmo2 |
A |
G |
2: 165,139,573 (GRCm39) |
|
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,591,172 (GRCm39) |
F110L |
probably damaging |
Het |
Gabrb2 |
T |
A |
11: 42,482,734 (GRCm39) |
N197K |
probably benign |
Het |
Gdnf |
T |
A |
15: 7,845,130 (GRCm39) |
V41E |
possibly damaging |
Het |
Gm21915 |
A |
G |
9: 40,582,083 (GRCm39) |
I59V |
possibly damaging |
Het |
Gprin2 |
C |
T |
14: 33,917,038 (GRCm39) |
G244D |
possibly damaging |
Het |
Grin2d |
T |
C |
7: 45,482,781 (GRCm39) |
|
probably benign |
Het |
Ice2 |
A |
G |
9: 69,318,122 (GRCm39) |
D241G |
probably benign |
Het |
Mios |
C |
T |
6: 8,214,935 (GRCm39) |
R44C |
possibly damaging |
Het |
Nlrp5-ps |
T |
C |
7: 14,320,636 (GRCm39) |
|
noncoding transcript |
Het |
Or4d6 |
G |
A |
19: 12,085,989 (GRCm39) |
P81L |
probably benign |
Het |
Or4f14 |
G |
T |
2: 111,743,064 (GRCm39) |
D70E |
probably damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,389 (GRCm39) |
V76E |
probably damaging |
Het |
Or5t9 |
T |
C |
2: 86,659,570 (GRCm39) |
I158T |
probably benign |
Het |
Or8g19 |
G |
T |
9: 39,055,762 (GRCm39) |
R122L |
possibly damaging |
Het |
Otop2 |
G |
A |
11: 115,219,972 (GRCm39) |
A271T |
probably benign |
Het |
Otulin |
A |
G |
15: 27,619,716 (GRCm39) |
|
probably benign |
Het |
Pax1 |
A |
G |
2: 147,210,348 (GRCm39) |
Y361C |
probably damaging |
Het |
Pcdhb12 |
A |
T |
18: 37,570,693 (GRCm39) |
N613I |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,534,925 (GRCm39) |
K173E |
probably damaging |
Het |
Plin4 |
T |
A |
17: 56,411,389 (GRCm39) |
T881S |
probably damaging |
Het |
Poli |
A |
G |
18: 70,655,771 (GRCm39) |
|
probably null |
Het |
Prex2 |
T |
A |
1: 11,240,077 (GRCm39) |
F898I |
probably damaging |
Het |
Prr14l |
A |
T |
5: 32,987,112 (GRCm39) |
H794Q |
probably benign |
Het |
Prss1 |
A |
T |
6: 41,439,545 (GRCm39) |
I93F |
probably benign |
Het |
Ptpro |
C |
T |
6: 137,391,239 (GRCm39) |
|
probably benign |
Het |
Rad1 |
T |
C |
15: 10,486,728 (GRCm39) |
C42R |
probably damaging |
Het |
Rnf20 |
A |
G |
4: 49,638,769 (GRCm39) |
E197G |
probably benign |
Het |
Setx |
A |
G |
2: 29,062,336 (GRCm39) |
E2260G |
probably damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Six2 |
A |
G |
17: 85,992,616 (GRCm39) |
S296P |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,810,102 (GRCm39) |
|
probably benign |
Het |
Spred2 |
T |
C |
11: 19,948,215 (GRCm39) |
V41A |
probably damaging |
Het |
Ssu2 |
A |
T |
6: 112,354,566 (GRCm39) |
C219* |
probably null |
Het |
Tbc1d9b |
T |
A |
11: 50,040,563 (GRCm39) |
V360D |
possibly damaging |
Het |
Tdrd9 |
G |
A |
12: 112,006,895 (GRCm39) |
D920N |
probably damaging |
Het |
Tyrp1 |
A |
G |
4: 80,755,692 (GRCm39) |
T154A |
possibly damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Wac |
A |
C |
18: 7,926,131 (GRCm39) |
M596L |
possibly damaging |
Het |
Zfhx2 |
G |
T |
14: 55,302,014 (GRCm39) |
P1990Q |
probably damaging |
Het |
Zfp853 |
T |
C |
5: 143,275,332 (GRCm39) |
E96G |
unknown |
Het |
Zzef1 |
G |
A |
11: 72,801,152 (GRCm39) |
|
probably null |
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 |
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'- AGTGCTAATCCTGAAGAAGACCC -3'
(R):5'- TAACGAAGGCCAGGATCTGTC -3'
Sequencing Primer
(F):5'- TCCTGAAGAAGACCCTCTGG -3'
(R):5'- TCAGCAGGATAGATGAGCTTTC -3'
|
Posted On |
2014-12-29 |