Incidental Mutation 'R7201:Nyap1'
ID 560293
Institutional Source Beutler Lab
Gene Symbol Nyap1
Ensembl Gene ENSMUSG00000045348
Gene Name neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1
Synonyms 6430598A04Rik, Nyap1
MMRRC Submission 045279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R7201 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137729144-137739430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137734524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 170 (S170T)
Ref Sequence ENSEMBL: ENSMUSP00000113397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061789] [ENSMUST00000118326] [ENSMUST00000149512] [ENSMUST00000212152]
AlphaFold Q6PFX7
Predicted Effect probably damaging
Transcript: ENSMUST00000061789
AA Change: S170T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: S170T

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: S170T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: S170T

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: ENSMUST00000149512
AA Change: S170T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348
AA Change: S170T

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: S170T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.0814 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (80/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,153,300 (GRCm39) T903A probably benign Het
Acin1 A T 14: 54,902,356 (GRCm39) S479T possibly damaging Het
Actr6 A T 10: 89,548,374 (GRCm39) D370E probably benign Het
Adgrl3 T C 5: 81,872,069 (GRCm39) F921S probably damaging Het
Ankmy1 A T 1: 92,814,546 (GRCm39) H320Q possibly damaging Het
Arhgef5 C T 6: 43,250,166 (GRCm39) Q306* probably null Het
Art4 A T 6: 136,831,547 (GRCm39) V198E probably benign Het
Asph G A 4: 9,474,917 (GRCm39) R686W probably damaging Het
Atg7 A G 6: 114,754,018 (GRCm39) H724R probably damaging Het
BC034090 A G 1: 155,117,680 (GRCm39) V146A probably damaging Het
Bcl2a1d T A 9: 88,613,639 (GRCm39) Q45L probably damaging Het
Bmal1 T A 7: 112,884,349 (GRCm39) M122K probably damaging Het
Cd28 G T 1: 60,802,332 (GRCm39) E84* probably null Het
Ceacam3 G A 7: 16,892,163 (GRCm39) W302* probably null Het
Cerkl T C 2: 79,163,934 (GRCm39) N462S probably benign Het
Cisd2 A T 3: 135,116,974 (GRCm39) L39H probably damaging Het
Col11a1 C A 3: 113,883,806 (GRCm39) T225K unknown Het
Col15a1 A T 4: 47,307,752 (GRCm39) Y1178F possibly damaging Het
Cul4a T C 8: 13,192,991 (GRCm39) S630P probably damaging Het
Cyp2c38 T A 19: 39,390,220 (GRCm39) I327F probably damaging Het
Cyp3a25 A C 5: 145,928,257 (GRCm39) S263A probably benign Het
Cyp3a25 T A 5: 145,939,868 (GRCm39) L46F probably benign Het
Dmrta1 T A 4: 89,580,408 (GRCm39) L456* probably null Het
Dnah12 T C 14: 26,536,579 (GRCm39) L2165P probably benign Het
Dsg1a C A 18: 20,461,368 (GRCm39) S253R probably damaging Het
Egln2 A C 7: 26,859,744 (GRCm39) I323S probably damaging Het
Fam171b A G 2: 83,708,574 (GRCm39) T359A probably damaging Het
Fcgr2b G T 1: 170,790,966 (GRCm39) Q276K probably benign Het
Fcrl2 C T 3: 87,159,934 (GRCm39) C440Y probably damaging Het
Fmnl2 T C 2: 52,963,666 (GRCm39) V266A unknown Het
Glo1 A T 17: 30,816,828 (GRCm39) D109E probably benign Het
Grin3b A G 10: 79,809,912 (GRCm39) R473G possibly damaging Het
Ica1 G A 6: 8,644,015 (GRCm39) L425F probably damaging Het
Iho1 A T 9: 108,281,974 (GRCm39) D571E probably damaging Het
Ilrun A C 17: 28,013,044 (GRCm39) probably null Het
Kcnq5 T C 1: 21,473,099 (GRCm39) E716G possibly damaging Het
Klra17 A T 6: 129,850,306 (GRCm39) I48K possibly damaging Het
Lrrc66 G T 5: 73,787,240 (GRCm39) Q37K probably benign Het
Ly6a T A 15: 74,868,325 (GRCm39) T55S probably benign Het
Lyst T A 13: 13,883,885 (GRCm39) Y2924* probably null Het
Lyzl6 A G 11: 103,522,177 (GRCm39) Y140H probably benign Het
Mak T C 13: 41,204,916 (GRCm39) I141V possibly damaging Het
Mapk7 A G 11: 61,379,998 (GRCm39) I789T probably benign Het
Mgat4f A G 1: 134,318,206 (GRCm39) D326G possibly damaging Het
Mrpl4 T C 9: 20,918,634 (GRCm39) I123T probably benign Het
Mup18 G C 4: 61,591,573 (GRCm39) probably null Het
Myef2 T C 2: 124,938,082 (GRCm39) probably null Het
Myh7 T C 14: 55,228,402 (GRCm39) T235A possibly damaging Het
Myo18b C T 5: 112,863,325 (GRCm39) C2171Y probably damaging Het
Nat8 A T 6: 85,807,877 (GRCm39) Y85* probably null Het
Ogfr AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,887 (GRCm39) probably benign Het
Or10ah1-ps1 A G 5: 143,123,553 (GRCm39) Y157H probably damaging Het
Or1e32 A G 11: 73,705,167 (GRCm39) V247A probably benign Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Papss1 T C 3: 131,305,687 (GRCm39) L244P probably damaging Het
Pibf1 A T 14: 99,433,844 (GRCm39) D597V probably damaging Het
Pmpcb T A 5: 21,942,177 (GRCm39) M1K probably null Het
Ppwd1 G A 13: 104,343,680 (GRCm39) P575L probably damaging Het
Pramel17 T A 4: 101,695,338 (GRCm39) probably null Het
Prc1 A G 7: 79,960,837 (GRCm39) Q457R possibly damaging Het
Prdm10 T C 9: 31,227,602 (GRCm39) V69A possibly damaging Het
Prkdc A G 16: 15,516,667 (GRCm39) I1014V probably benign Het
Rab3gap2 A G 1: 184,999,388 (GRCm39) Y999C probably damaging Het
Robo3 G A 9: 37,335,626 (GRCm39) Q539* probably null Het
Rps12 A G 10: 23,661,129 (GRCm39) Y127H probably benign Het
Sar1b A G 11: 51,679,079 (GRCm39) D116G probably benign Het
Selenbp2 C T 3: 94,609,664 (GRCm39) P294L probably benign Het
Slc6a2 T C 8: 93,722,300 (GRCm39) Y516H probably damaging Het
Slit2 A G 5: 48,394,627 (GRCm39) N673S probably null Het
Snap91 A T 9: 86,672,199 (GRCm39) probably null Het
Spata31h1 T C 10: 82,127,461 (GRCm39) M1850V probably benign Het
Srpk2 A G 5: 23,712,626 (GRCm39) F653L possibly damaging Het
Supt5 A T 7: 28,016,213 (GRCm39) S824T probably benign Het
Taar7a A G 10: 23,868,358 (GRCm39) V341A probably benign Het
Tmem52 G A 4: 155,554,778 (GRCm39) G134R probably damaging Het
Ush2a A G 1: 188,606,951 (GRCm39) T3949A probably benign Het
Usp32 GAACAAGTCCACAACAA GAACAA 11: 84,913,681 (GRCm39) probably null Het
Vmn1r173 A T 7: 23,401,583 (GRCm39) probably benign Het
Vmn2r118 G A 17: 55,915,496 (GRCm39) R485* probably null Het
Vwce A G 19: 10,615,479 (GRCm39) E120G possibly damaging Het
Zfp143 T C 7: 109,692,287 (GRCm39) V566A possibly damaging Het
Other mutations in Nyap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Nyap1 APN 5 137,736,346 (GRCm39) missense probably damaging 1.00
IGL02211:Nyap1 APN 5 137,737,937 (GRCm39) missense probably damaging 0.99
IGL02658:Nyap1 APN 5 137,733,746 (GRCm39) missense probably damaging 0.99
IGL03493:Nyap1 APN 5 137,733,278 (GRCm39) missense probably damaging 1.00
R0180:Nyap1 UTSW 5 137,736,283 (GRCm39) missense probably damaging 1.00
R0731:Nyap1 UTSW 5 137,733,560 (GRCm39) missense probably damaging 1.00
R1215:Nyap1 UTSW 5 137,733,395 (GRCm39) nonsense probably null
R1741:Nyap1 UTSW 5 137,731,387 (GRCm39) missense probably damaging 1.00
R1953:Nyap1 UTSW 5 137,733,294 (GRCm39) missense probably benign 0.01
R2006:Nyap1 UTSW 5 137,733,953 (GRCm39) missense possibly damaging 0.81
R2131:Nyap1 UTSW 5 137,731,943 (GRCm39) intron probably null
R2244:Nyap1 UTSW 5 137,733,576 (GRCm39) missense probably damaging 1.00
R4581:Nyap1 UTSW 5 137,734,284 (GRCm39) missense probably damaging 1.00
R4857:Nyap1 UTSW 5 137,733,840 (GRCm39) missense probably damaging 0.98
R5151:Nyap1 UTSW 5 137,734,376 (GRCm39) missense probably damaging 0.99
R5533:Nyap1 UTSW 5 137,733,726 (GRCm39) missense probably benign 0.15
R5695:Nyap1 UTSW 5 137,733,246 (GRCm39) missense probably damaging 1.00
R7210:Nyap1 UTSW 5 137,736,244 (GRCm39) missense probably damaging 1.00
R7374:Nyap1 UTSW 5 137,733,791 (GRCm39) missense probably damaging 1.00
R7434:Nyap1 UTSW 5 137,734,530 (GRCm39) missense probably damaging 1.00
R7658:Nyap1 UTSW 5 137,731,236 (GRCm39) missense probably benign
R7870:Nyap1 UTSW 5 137,733,658 (GRCm39) nonsense probably null
R7913:Nyap1 UTSW 5 137,733,231 (GRCm39) missense probably damaging 1.00
R8278:Nyap1 UTSW 5 137,730,077 (GRCm39) missense probably damaging 1.00
R8422:Nyap1 UTSW 5 137,734,083 (GRCm39) missense probably benign 0.01
R9145:Nyap1 UTSW 5 137,736,175 (GRCm39) missense probably benign
R9367:Nyap1 UTSW 5 137,734,248 (GRCm39) missense probably damaging 1.00
R9441:Nyap1 UTSW 5 137,733,194 (GRCm39) missense probably benign 0.02
R9568:Nyap1 UTSW 5 137,733,394 (GRCm39) nonsense probably null
R9680:Nyap1 UTSW 5 137,733,840 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAGAGGAGGTCCCGCCAG -3'
(R):5'- AAAAGCTGGGGATGTATTTCTAAGTT -3'

Sequencing Primer
(F):5'- AGGCCTCCTCCACTTCG -3'
(R):5'- GTAGTTGAGCCCCTGCCTAGAATC -3'
Posted On 2019-06-26