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) question?
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

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 null
Transcript: ENSMUST00000137862
AA Change: R67*
SMART Domains Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: R67*

DomainStartEndE-ValueType
Pfam:NYAP_N 43 416 1.4e-134 PFAM
Pfam:NYAP_C 420 647 7.7e-17 PFAM
Meta Mutation Damage Score 0.9755 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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