Incidental Mutation 'R0180:Nyap1'
ID23810
Institutional Source Beutler Lab
Gene Symbol Nyap1
Ensembl Gene ENSMUSG00000045348
Gene Nameneuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1
Synonyms6430598A04Rik, Nyap1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock #R0180 (G1)
Quality Score179
Status Validated (trace)
Chromosome5
Chromosomal Location137729899-137741607 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 137738021 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 68 (E68G)
Ref Sequence ENSEMBL: ENSMUSP00000114694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061789] [ENSMUST00000118326] [ENSMUST00000149512] [ENSMUST00000212152]
Predicted Effect probably damaging
Transcript: ENSMUST00000061789
AA Change: E68G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: E68G

DomainStartEndE-ValueType
Pfam:NYAP_N 15 411 1.5e-127 PFAM
low complexity region 431 452 N/A INTRINSIC
Pfam:NYAP_C 528 833 1.7e-180 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118326
AA Change: E68G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: E68G

DomainStartEndE-ValueType
Pfam:NYAP_N 15 411 1.5e-127 PFAM
low complexity region 431 452 N/A INTRINSIC
Pfam:NYAP_C 528 833 1.7e-180 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119498
AA Change: E68G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112894
Gene: ENSMUSG00000045348
AA Change: E68G

DomainStartEndE-ValueType
Pfam:NYAP_N 1 410 1.2e-104 PFAM
low complexity region 431 452 N/A INTRINSIC
Pfam:NYAP_C 571 833 4e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149512
AA Change: E68G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348
AA Change: E68G

DomainStartEndE-ValueType
Pfam:NYAP_N 15 411 7.1e-128 PFAM
low complexity region 431 452 N/A INTRINSIC
Pfam:NYAP_C 528 771 1.9e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212152
AA Change: E68G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 89.5%
Validation Efficiency 77% (53/69)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T A 19: 21,652,639 N24Y probably damaging Het
2810408A11Rik A T 11: 69,898,876 M311K probably benign Het
Ackr2 T C 9: 121,908,916 I119T probably benign Het
Adamtsl3 A G 7: 82,575,990 M336V probably benign Het
Adhfe1 T A 1: 9,563,857 F374I probably benign Het
Apob C T 12: 8,008,285 Q2256* probably null Het
Arg1 T C 10: 24,916,830 I169V probably benign Het
Atxn1 A G 13: 45,557,548 V636A probably damaging Het
B3gnt5 T A 16: 19,769,100 I23K possibly damaging Het
Casc1 A G 6: 145,183,218 probably benign Het
Catsperg1 A T 7: 29,190,431 probably null Het
Celf3 T A 3: 94,485,340 F115L probably damaging Het
Cep192 T A 18: 67,835,488 H984Q probably damaging Het
Col18a1 A G 10: 77,096,517 V493A probably benign Het
Col5a2 C T 1: 45,411,460 G376S probably damaging Het
Colec12 A G 18: 9,848,890 H356R probably damaging Het
Colec12 C T 18: 9,858,921 P568L unknown Het
Cracr2a T C 6: 127,604,074 probably null Het
Ctsr T C 13: 61,162,745 H62R probably damaging Het
Cyp4f40 G T 17: 32,659,667 W61L probably benign Het
Dnah9 T G 11: 66,147,290 H140P probably damaging Het
Dnm1 T G 2: 32,327,993 I464L probably damaging Het
Dnmt1 G A 9: 20,908,620 T1409I probably damaging Het
Dock1 G A 7: 135,098,837 D1109N probably damaging Het
Efhc1 A G 1: 20,967,489 M297V probably benign Het
Emcn A T 3: 137,418,994 probably null Het
Ephb1 A T 9: 101,927,504 M905K probably damaging Het
Fbxw10 A G 11: 62,853,096 Y276C probably benign Het
Fermt3 C A 19: 7,002,343 S474I possibly damaging Het
Frg1 T A 8: 41,399,068 probably null Het
Gbf1 T C 19: 46,285,722 S1732P probably benign Het
Gbp8 A C 5: 105,031,276 L119R probably damaging Het
Gldc C T 19: 30,100,817 A927T possibly damaging Het
Gm8836 T A 6: 70,260,405 probably benign Het
Grhl3 C T 4: 135,554,530 V344I probably benign Het
Hhipl1 T A 12: 108,328,070 L745H probably damaging Het
Ido1 T C 8: 24,593,140 I90V possibly damaging Het
Itpr2 T A 6: 146,501,909 probably benign Het
Kif1b T G 4: 149,213,659 S1029R probably damaging Het
Kmt2a G A 9: 44,826,851 probably benign Het
Limk1 T C 5: 134,669,261 N215D probably damaging Het
Lims2 A G 18: 31,956,315 K144E probably benign Het
Mfsd6l A T 11: 68,556,545 Q74L possibly damaging Het
Mroh1 T A 15: 76,428,250 S546T probably damaging Het
Ncbp3 T A 11: 73,064,978 probably null Het
Nlrx1 G A 9: 44,255,459 H776Y possibly damaging Het
Nptxr T C 15: 79,794,403 M228V probably benign Het
Nsf T A 11: 103,930,780 L13F probably damaging Het
Olfr550 A G 7: 102,579,032 Y179C probably damaging Het
Olfr9 A T 10: 128,990,834 R307S possibly damaging Het
Pcdhb9 A G 18: 37,402,254 N434D probably damaging Het
Pgm5 T C 19: 24,815,763 D313G probably damaging Het
Pkdcc G A 17: 83,221,870 probably null Het
Pkp1 T C 1: 135,886,800 K261R probably benign Het
Pnpla6 A G 8: 3,524,250 probably null Het
Polr3b A G 10: 84,622,515 T17A probably benign Het
Ppt2 A T 17: 34,626,503 M98K probably damaging Het
Rasal3 T C 17: 32,399,405 D142G probably benign Het
Rbm17 G A 2: 11,587,779 S295L probably benign Het
Rhbdf1 A T 11: 32,210,042 V153D possibly damaging Het
Slc6a3 C T 13: 73,562,336 T355M probably damaging Het
Snrnp35 A T 5: 124,490,820 probably benign Het
Sorcs2 A T 5: 36,153,845 I37N probably damaging Het
Tecta G T 9: 42,366,813 P1133Q probably benign Het
Tmem145 A G 7: 25,314,699 I413V probably benign Het
Trappc11 G T 8: 47,527,974 T144K possibly damaging Het
Triml2 A T 8: 43,190,309 I223L probably benign Het
Ube2g2 T A 10: 77,630,739 N19K possibly damaging Het
Ubqln3 A G 7: 104,141,840 Y348H probably damaging Het
Wfs1 A G 5: 36,967,028 F840L probably damaging Het
Zc3h11a T C 1: 133,621,611 I771V probably benign Het
Zdhhc23 G A 16: 43,973,703 P203S probably benign Het
Zfp106 T G 2: 120,533,875 T684P probably damaging Het
Zfp217 A T 2: 170,120,137 L90Q probably damaging Het
Other mutations in Nyap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Nyap1 APN 5 137738084 missense probably damaging 1.00
IGL02211:Nyap1 APN 5 137739675 missense probably damaging 0.99
IGL02658:Nyap1 APN 5 137735484 missense probably damaging 0.99
IGL03493:Nyap1 APN 5 137735016 missense probably damaging 1.00
R0731:Nyap1 UTSW 5 137735298 missense probably damaging 1.00
R1215:Nyap1 UTSW 5 137735133 nonsense probably null
R1741:Nyap1 UTSW 5 137733125 missense probably damaging 1.00
R1953:Nyap1 UTSW 5 137735032 missense probably benign 0.01
R2006:Nyap1 UTSW 5 137735691 missense possibly damaging 0.81
R2131:Nyap1 UTSW 5 137733681 intron probably null
R2244:Nyap1 UTSW 5 137735314 missense probably damaging 1.00
R4581:Nyap1 UTSW 5 137736022 missense probably damaging 1.00
R4857:Nyap1 UTSW 5 137735578 missense probably damaging 0.98
R5151:Nyap1 UTSW 5 137736114 missense probably damaging 0.99
R5533:Nyap1 UTSW 5 137735464 missense probably benign 0.15
R5695:Nyap1 UTSW 5 137734984 missense probably damaging 1.00
R7201:Nyap1 UTSW 5 137736262 missense probably damaging 1.00
R7210:Nyap1 UTSW 5 137737982 missense probably damaging 1.00
R7374:Nyap1 UTSW 5 137735529 missense probably damaging 1.00
R7434:Nyap1 UTSW 5 137736268 missense probably damaging 1.00
R7658:Nyap1 UTSW 5 137732974 missense probably benign
R7870:Nyap1 UTSW 5 137735396 nonsense probably null
R7913:Nyap1 UTSW 5 137734969 missense probably damaging 1.00
R8278:Nyap1 UTSW 5 137731815 missense probably damaging 1.00
R8422:Nyap1 UTSW 5 137735821 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCCCTGAATGAACCCTCCCAGAG -3'
(R):5'- TTCAGATATCCCTAACCCAGGCTCC -3'

Sequencing Primer
(F):5'- GGATGGATGTCTCACCTGC -3'
(R):5'- TATCTCCTCCTGAGATGGAAGAC -3'
Posted On2013-04-16