Incidental Mutation 'R0001:Nyap2'
ID 32209
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 038297-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0001 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 81054667-81319479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81169822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 193 (H193L)
Ref Sequence ENSEMBL: ENSMUSP00000117661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068275] [ENSMUST00000113494] [ENSMUST00000123285] [ENSMUST00000123720] [ENSMUST00000137862]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068275
AA Change: H193L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: H193L

DomainStartEndE-ValueType
Pfam:NYAP_N 44 447 1.5e-139 PFAM
Pfam:NYAP_C 496 709 5.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113494
SMART Domains Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976

DomainStartEndE-ValueType
Pfam:NYAP_N 43 416 1.4e-134 PFAM
Pfam:NYAP_C 420 647 7.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123285
SMART Domains Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976

DomainStartEndE-ValueType
Pfam:NYAP_N 43 416 1.9e-134 PFAM
Pfam:NYAP_C 420 716 6.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123720
AA Change: H193L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: H193L

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 benign
Transcript: ENSMUST00000137862
SMART Domains Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976

DomainStartEndE-ValueType
Pfam:NYAP_N 43 416 1.4e-134 PFAM
Pfam:NYAP_C 420 647 7.7e-17 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 99% (76/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,288,534 (GRCm39) probably benign Het
A4galt A G 15: 83,112,490 (GRCm39) F98L probably benign Het
Abca4 T G 3: 121,874,660 (GRCm39) probably benign Het
Acacb C T 5: 114,342,894 (GRCm39) probably benign Het
Agbl1 A T 7: 76,069,611 (GRCm39) H367L probably damaging Het
Apoa4 C A 9: 46,154,190 (GRCm39) Q264K probably benign Het
Camsap2 A T 1: 136,210,626 (GRCm39) probably benign Het
Cdan1 C A 2: 120,554,232 (GRCm39) R939L probably benign Het
Ceacam18 G A 7: 43,286,300 (GRCm39) V58I possibly damaging Het
Ciita A T 16: 10,332,297 (GRCm39) probably benign Het
Clk4 T A 11: 51,159,592 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,507,105 (GRCm39) D215G probably benign Het
Col11a2 T C 17: 34,280,586 (GRCm39) S1218P probably benign Het
Col20a1 T C 2: 180,626,205 (GRCm39) probably benign Het
Ctsb A G 14: 63,373,071 (GRCm39) E76G probably benign Het
Ctu2 T C 8: 123,205,659 (GRCm39) C161R probably benign Het
Dhx29 T C 13: 113,101,090 (GRCm39) L1211P probably damaging Het
Dhx9 G T 1: 153,338,382 (GRCm39) T759K probably damaging Het
Dmxl1 T C 18: 50,021,964 (GRCm39) probably benign Het
Dpysl3 C T 18: 43,491,440 (GRCm39) E226K possibly damaging Het
Eif2d A T 1: 131,095,864 (GRCm39) K453* probably null Het
Epha7 T C 4: 28,961,279 (GRCm39) probably benign Het
Fat3 T C 9: 16,289,169 (GRCm39) D118G probably damaging Het
Fhip2a T A 19: 57,370,188 (GRCm39) H477Q probably benign Het
Foxn4 T A 5: 114,398,931 (GRCm39) Q159L probably damaging Het
Frs2 G T 10: 116,910,781 (GRCm39) H194N possibly damaging Het
Fut8 A T 12: 77,522,089 (GRCm39) *576L probably null Het
Galns T C 8: 123,322,622 (GRCm39) probably benign Het
Gamt G A 10: 80,094,895 (GRCm39) probably benign Het
Gpn1 T A 5: 31,652,961 (GRCm39) probably benign Het
Ipcef1 G T 10: 6,850,600 (GRCm39) H330Q probably damaging Het
Itga4 A C 2: 79,156,931 (GRCm39) Y1024S probably damaging Het
Jak2 A G 19: 29,259,787 (GRCm39) I229V probably benign Het
Katnal1 A G 5: 148,858,085 (GRCm39) S42P probably damaging Het
Kcnu1 A T 8: 26,349,298 (GRCm39) D142V probably damaging Het
Lig3 C T 11: 82,681,417 (GRCm39) R470W probably damaging Het
Mgat4c A G 10: 102,224,817 (GRCm39) S344G probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mipol1 C T 12: 57,507,625 (GRCm39) probably benign Het
Mki67 C T 7: 135,300,901 (GRCm39) V1378M probably damaging Het
Mki67 T A 7: 135,302,748 (GRCm39) D762V probably damaging Het
Mmp9 A G 2: 164,790,303 (GRCm39) T43A probably benign Het
Muc6 T C 7: 141,227,841 (GRCm39) T1316A possibly damaging Het
Naip5 A G 13: 100,351,158 (GRCm39) probably null Het
Naip5 C A 13: 100,359,622 (GRCm39) S538I probably benign Het
Nek3 A T 8: 22,648,628 (GRCm39) probably benign Het
Nlrp1b A G 11: 71,052,585 (GRCm39) S948P probably damaging Het
Or52h1 T A 7: 103,828,680 (GRCm39) K312* probably null Het
Or9s23 A G 1: 92,501,183 (GRCm39) K97E possibly damaging Het
Patl2 G A 2: 121,956,191 (GRCm39) probably benign Het
Pcdhb11 A T 18: 37,557,042 (GRCm39) R791W probably benign Het
Pkd1l3 C A 8: 110,355,265 (GRCm39) probably benign Het
Pkn2 A T 3: 142,534,749 (GRCm39) V73D probably benign Het
Pknox1 A T 17: 31,818,610 (GRCm39) H281L probably damaging Het
Polr3a A G 14: 24,502,257 (GRCm39) probably benign Het
Prss38 A G 11: 59,264,006 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,585,416 (GRCm39) F783S probably damaging Het
Rbm5 T C 9: 107,619,623 (GRCm39) R125G probably damaging Het
Rnpep A G 1: 135,200,223 (GRCm39) probably benign Het
Slc1a5 T A 7: 16,527,562 (GRCm39) probably null Het
Slc22a4 G A 11: 53,918,829 (GRCm39) probably benign Het
Spink12 T C 18: 44,240,763 (GRCm39) C50R probably damaging Het
Spmip5 G A 19: 58,777,603 (GRCm39) A61V probably damaging Het
Svep1 G A 4: 58,066,460 (GRCm39) T3208I possibly damaging Het
Tgm5 G T 2: 120,908,127 (GRCm39) D16E probably damaging Het
Tpp2 A G 1: 44,010,886 (GRCm39) N558D probably benign Het
Trappc9 A T 15: 72,835,511 (GRCm39) L507Q probably damaging Het
Trpm3 A T 19: 22,692,695 (GRCm39) Q262L possibly damaging Het
Ttn A G 2: 76,607,316 (GRCm39) probably benign Het
Ttn G A 2: 76,662,433 (GRCm39) probably benign Het
Ubr4 T A 4: 139,179,099 (GRCm39) L3316Q probably damaging Het
Uckl1 T A 2: 181,216,448 (GRCm39) Y136F probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps39 A G 2: 120,148,534 (GRCm39) V870A probably benign Het
Zdhhc25 A G 15: 88,485,112 (GRCm39) D149G probably benign Het
Zfp648 C T 1: 154,081,032 (GRCm39) T397M probably damaging Het
Zic2 C A 14: 122,716,369 (GRCm39) T435K probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCATGACGATGCCTGCACCTC -3'
(R):5'- TCCTGCAAGCATTCTGCTGCTG -3'

Sequencing Primer
(F):5'- TGTGGATCACGAAGACAACC -3'
(R):5'- AAGCATTCTGCTGCTGTACTATATC -3'
Posted On 2013-05-09