Incidental Mutation 'R8482:Nyap2'
ID 657553
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8482 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 81076950-81341764 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81241637 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 458 (Y458F)
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: Y458F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: Y458F

DomainStartEndE-ValueType
Pfam:NYAP_N 44 447 1.5e-139 PFAM
Pfam:NYAP_C 496 709 5.2e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113494
AA Change: Y426F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: Y426F

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: Y426F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: Y426F

DomainStartEndE-ValueType
Pfam:NYAP_N 43 416 1.9e-134 PFAM
Pfam:NYAP_C 420 716 6.3e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123720
AA Change: Y458F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: Y458F

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 possibly damaging
Transcript: ENSMUST00000137862
AA Change: Y426F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: Y426F

DomainStartEndE-ValueType
Pfam:NYAP_N 43 416 1.4e-134 PFAM
Pfam:NYAP_C 420 647 7.7e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (49/49)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik C T 13: 66,431,738 probably benign Het
Acan G A 7: 79,096,744 V711I probably benign Het
Adprh A T 16: 38,447,509 M138K probably damaging Het
Ahctf1 A G 1: 179,763,542 probably benign Het
Atg9a G A 1: 75,186,226 T410M probably damaging Het
Atxn1 A T 13: 45,567,950 S156R possibly damaging Het
Bptf T C 11: 107,043,698 T2850A probably benign Het
Cc2d2a A T 5: 43,695,239 Y386F probably damaging Het
Ccdc97 T C 7: 25,715,002 D109G probably damaging Het
Chd5 C T 4: 152,356,690 R196* probably null Het
Clec4a2 T C 6: 123,123,671 probably null Het
Col13a1 A G 10: 61,884,698 I317T probably damaging Het
D630003M21Rik G T 2: 158,216,932 S349R probably benign Het
Eml5 C A 12: 98,876,301 L179F probably damaging Het
Ets2 A T 16: 95,714,975 M200L probably benign Het
Fam189a2 T A 19: 23,988,502 N211I probably damaging Het
Fam213a C T 14: 40,997,766 E164K probably benign Het
Fat3 T C 9: 16,246,967 T1116A probably benign Het
Fhit A G 14: 10,751,616 V24A probably benign Het
Gm6685 T C 11: 28,339,195 N207S probably benign Het
Hdc G A 2: 126,594,205 T582M probably benign Het
Hmgxb4 G A 8: 75,029,594 C575Y probably damaging Het
Kidins220 T A 12: 25,040,528 S1164T probably benign Het
Ldb1 C A 19: 46,036,270 D5Y probably null Het
Lpcat1 G A 13: 73,510,925 R320H probably benign Het
Lrfn4 T C 19: 4,614,305 D67G probably damaging Het
Myo15b C T 11: 115,883,257 Q550* probably null Het
Myo18b C A 5: 112,871,623 E43* probably null Het
Neurl1a T C 19: 47,253,280 C271R probably damaging Het
Nfasc T C 1: 132,605,089 S690G probably damaging Het
Ngly1 T C 14: 16,310,377 S501P probably benign Het
Nlrp1a A T 11: 71,109,075 probably null Het
Npw A G 17: 24,657,422 W172R probably benign Het
Nudt8 T C 19: 4,000,849 probably null Het
Olfr1118 G A 2: 87,309,382 V198I probably benign Het
Osbpl5 T A 7: 143,704,994 T280S probably benign Het
Pex1 A T 5: 3,612,923 I505F probably benign Het
Pfkm A G 15: 98,131,983 E756G probably benign Het
Pkd2l2 A G 18: 34,425,113 I282V possibly damaging Het
Pnpla8 T C 12: 44,283,627 S321P probably benign Het
Qdpr G T 5: 45,439,346 Q159K probably benign Het
Rac2 T C 15: 78,566,006 M45V probably benign Het
Rnaset2b G A 17: 6,996,509 probably null Het
Rpl38 T A 11: 114,672,288 *71R probably null Het
Sacs G T 14: 61,202,955 V817L probably benign Het
Selenot T C 3: 58,588,468 F133S probably damaging Het
Sgcg G A 14: 61,240,407 L78F probably damaging Het
Slc19a1 A G 10: 77,049,663 R466G probably benign Het
Tpr A G 1: 150,433,700 T1736A probably damaging Het
Zfhx3 A G 8: 108,947,879 I1854V probably benign Het
Zfp652 T C 11: 95,752,893 S306P probably damaging Het
Other mutations in Nyap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Nyap2 APN 1 81191980 missense probably damaging 0.99
IGL01660:Nyap2 APN 1 81191927 missense probably damaging 0.99
IGL02379:Nyap2 APN 1 81087430 missense probably damaging 1.00
IGL02652:Nyap2 APN 1 81241720 missense probably damaging 1.00
IGL03217:Nyap2 APN 1 81087322 missense probably damaging 1.00
IGL03410:Nyap2 APN 1 81241441 missense possibly damaging 0.95
R0001:Nyap2 UTSW 1 81192107 missense probably benign 0.03
R0014:Nyap2 UTSW 1 81241951 missense probably damaging 0.99
R0506:Nyap2 UTSW 1 81087312 missense probably damaging 0.99
R1512:Nyap2 UTSW 1 81241851 missense probably damaging 0.98
R1914:Nyap2 UTSW 1 81191887 missense probably damaging 1.00
R2018:Nyap2 UTSW 1 81191872 missense probably benign 0.03
R2078:Nyap2 UTSW 1 81191981 missense probably damaging 1.00
R2139:Nyap2 UTSW 1 81241268 missense probably damaging 1.00
R2915:Nyap2 UTSW 1 81087471 nonsense probably null
R2972:Nyap2 UTSW 1 81191770 nonsense probably null
R2974:Nyap2 UTSW 1 81191770 nonsense probably null
R3076:Nyap2 UTSW 1 81241971 critical splice donor site probably null
R4066:Nyap2 UTSW 1 81241835 missense probably damaging 1.00
R4134:Nyap2 UTSW 1 81241193 missense probably damaging 0.99
R4298:Nyap2 UTSW 1 81241096 missense probably damaging 1.00
R4652:Nyap2 UTSW 1 81336729 missense probably damaging 0.98
R4788:Nyap2 UTSW 1 81269397 missense probably benign
R4816:Nyap2 UTSW 1 81241313 missense probably damaging 1.00
R5211:Nyap2 UTSW 1 81087274 start codon destroyed probably null 0.77
R5327:Nyap2 UTSW 1 81192041 missense possibly damaging 0.77
R5453:Nyap2 UTSW 1 81192142 missense probably benign 0.01
R7337:Nyap2 UTSW 1 81336515 missense possibly damaging 0.50
R7558:Nyap2 UTSW 1 81269373 missense probably benign 0.01
R8078:Nyap2 UTSW 1 81241057 missense possibly damaging 0.95
R8231:Nyap2 UTSW 1 81192131 missense probably benign
R9047:Nyap2 UTSW 1 81298088 missense possibly damaging 0.95
R9056:Nyap2 UTSW 1 81336599 missense probably benign 0.15
R9193:Nyap2 UTSW 1 81297997 missense probably damaging 0.97
R9210:Nyap2 UTSW 1 81241327 missense probably damaging 1.00
R9260:Nyap2 UTSW 1 81087118 intron probably benign
X0067:Nyap2 UTSW 1 81269319 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CTGGAGGTCACAAAGCTTCCTG -3'
(R):5'- TATTCACCGCAGCATTGACC -3'

Sequencing Primer
(F):5'- CAAAGCTTCCTGTGTTGGAAAACG -3'
(R):5'- CGCAGCATTGACCATCTTGG -3'
Posted On 2021-01-18