Incidental Mutation 'IGL02652:Nyap2'
ID 302178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nyap2
Ensembl Gene ENSMUSG00000054976
Gene Name neuronal tyrosine-phophorylated phosphoinositide 3-kinase adaptor 2
Synonyms Jr6, 9430031J16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02652
Quality Score
Status
Chromosome 1
Chromosomal Location 81054667-81319479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81219435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 486 (Y486H)
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: Y486H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: Y486H

DomainStartEndE-ValueType
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: Y454H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: Y454H

DomainStartEndE-ValueType
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: Y454H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: Y454H

DomainStartEndE-ValueType
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: Y486H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: Y486H

DomainStartEndE-ValueType
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: Y454H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: Y454H

DomainStartEndE-ValueType
Pfam:NYAP_N 43 416 1.4e-134 PFAM
Pfam:NYAP_C 420 647 7.7e-17 PFAM
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Nyap2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16