Incidental Mutation 'R1660:Nos1ap'
ID 186634
Institutional Source Beutler Lab
Gene Symbol Nos1ap
Ensembl Gene ENSMUSG00000038473
Gene Name nitric oxide synthase 1 (neuronal) adaptor protein
Synonyms 6330408P19Rik
MMRRC Submission 039696-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1660 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 170143039-170417371 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170342206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 52 (V52A)
Ref Sequence ENSEMBL: ENSMUSP00000125251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160456] [ENSMUST00000160466] [ENSMUST00000161485] [ENSMUST00000161966]
AlphaFold Q9D3A8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159665
Predicted Effect possibly damaging
Transcript: ENSMUST00000160456
AA Change: V52A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125251
Gene: ENSMUSG00000038473
AA Change: V52A

DomainStartEndE-ValueType
PTB 27 173 3.59e-42 SMART
low complexity region 266 313 N/A INTRINSIC
low complexity region 316 330 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160466
SMART Domains Protein: ENSMUSP00000125687
Gene: ENSMUSG00000038473

DomainStartEndE-ValueType
Pfam:PID 1 116 4e-25 PFAM
low complexity region 212 231 N/A INTRINSIC
low complexity region 236 268 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161485
SMART Domains Protein: ENSMUSP00000124169
Gene: ENSMUSG00000038473

DomainStartEndE-ValueType
Pfam:PID 1 121 3e-26 PFAM
low complexity region 213 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161966
AA Change: V52A

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124240
Gene: ENSMUSG00000038473
AA Change: V52A

DomainStartEndE-ValueType
PTB 27 173 3.59e-42 SMART
low complexity region 266 285 N/A INTRINSIC
low complexity region 290 322 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C A 19: 31,870,507 (GRCm39) S3* probably null Het
Adgrv1 C T 13: 81,624,750 (GRCm39) V3740I probably benign Het
Aida T C 1: 183,079,127 (GRCm39) F22S probably damaging Het
Ankrd65 A T 4: 155,876,528 (GRCm39) D220V probably damaging Het
Antxr2 A T 5: 98,123,209 (GRCm39) C279* probably null Het
Ap3b1 T C 13: 94,545,320 (GRCm39) V191A probably damaging Het
Arhgef28 T C 13: 98,117,884 (GRCm39) K595E probably benign Het
Atp12a A G 14: 56,608,305 (GRCm39) T98A probably benign Het
Cdcp1 A T 9: 123,014,427 (GRCm39) S116T probably benign Het
Chrm1 T C 19: 8,656,582 (GRCm39) F429S possibly damaging Het
Ckap5 C A 2: 91,393,303 (GRCm39) Q395K possibly damaging Het
Cntn4 T A 6: 106,656,258 (GRCm39) I853K probably benign Het
Cyp2g1 G A 7: 26,509,107 (GRCm39) probably null Het
Dhx57 C T 17: 80,553,157 (GRCm39) V1257I possibly damaging Het
Disp1 A T 1: 182,869,306 (GRCm39) V1038D probably damaging Het
Dmxl2 A T 9: 54,358,314 (GRCm39) S462T possibly damaging Het
Dnaaf10 A T 11: 17,177,183 (GRCm39) E180D probably benign Het
Exoc3l A G 8: 106,019,692 (GRCm39) probably null Het
Fam210a T C 18: 68,409,167 (GRCm39) T48A probably benign Het
Fbxw5 G A 2: 25,393,286 (GRCm39) probably null Het
Fkbp9 T C 6: 56,850,434 (GRCm39) C437R probably damaging Het
Gpc5 A G 14: 115,636,691 (GRCm39) K458R probably benign Het
Grik2 C A 10: 49,120,439 (GRCm39) G56* probably null Het
Igsf10 T C 3: 59,238,706 (GRCm39) T492A probably damaging Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Lrrc51 T C 7: 101,562,645 (GRCm39) Y145C probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mapkbp1 A T 2: 119,849,029 (GRCm39) I682F possibly damaging Het
Mttp A T 3: 137,808,954 (GRCm39) V718D probably damaging Het
Myt1l T A 12: 29,945,272 (GRCm39) D1012E unknown Het
Nbn G A 4: 15,971,771 (GRCm39) G301D probably benign Het
Ncstn T A 1: 171,894,339 (GRCm39) S677C possibly damaging Het
Nod1 C A 6: 54,921,218 (GRCm39) probably null Het
Or51f2 T G 7: 102,526,863 (GRCm39) Y179D probably damaging Het
Or52z14 T A 7: 103,252,882 (GRCm39) L7* probably null Het
Or5b98 T A 19: 12,931,055 (GRCm39) I34N probably damaging Het
Or5h23 T A 16: 58,906,706 (GRCm39) I47F probably benign Het
Phf13 T C 4: 152,076,962 (GRCm39) I77V probably benign Het
Pias2 A G 18: 77,207,825 (GRCm39) K230E probably damaging Het
Poli A G 18: 70,642,535 (GRCm39) L469P probably damaging Het
Prag1 A T 8: 36,607,177 (GRCm39) T973S possibly damaging Het
Prpf40b C A 15: 99,203,442 (GRCm39) H101Q probably damaging Het
Prss50 T C 9: 110,691,557 (GRCm39) V287A possibly damaging Het
Rbm25 C T 12: 83,714,924 (GRCm39) probably benign Het
Rcor2 T C 19: 7,246,337 (GRCm39) V4A probably damaging Het
Rnf180 T C 13: 105,407,499 (GRCm39) T17A probably benign Het
Robo3 A T 9: 37,340,440 (GRCm39) V179E probably damaging Het
Sacs T A 14: 61,446,458 (GRCm39) S2835T probably damaging Het
Serpinb3c T A 1: 107,199,432 (GRCm39) H363L probably damaging Het
Setd1a T C 7: 127,395,841 (GRCm39) probably benign Het
Skp2 A C 15: 9,125,201 (GRCm39) V126G probably benign Het
Snph G A 2: 151,436,398 (GRCm39) Q108* probably null Het
Snrpa1 T A 7: 65,719,246 (GRCm39) V144E probably damaging Het
Tifab T C 13: 56,324,248 (GRCm39) E65G probably damaging Het
Tmem201 A T 4: 149,804,032 (GRCm39) Y468N probably damaging Het
Tpcn1 T C 5: 120,687,580 (GRCm39) N388S possibly damaging Het
Tssk4 A G 14: 55,888,029 (GRCm39) Q75R probably null Het
Tuba4a T C 1: 75,192,547 (GRCm39) N356D probably benign Het
Ugt2b5 T A 5: 87,287,477 (GRCm39) D230V probably benign Het
Ush2a T C 1: 188,648,261 (GRCm39) V4622A probably benign Het
Vmn2r11 T G 5: 109,201,724 (GRCm39) Y260S possibly damaging Het
Vmn2r89 C A 14: 51,693,693 (GRCm39) H348N possibly damaging Het
Vmn2r96 A T 17: 18,817,988 (GRCm39) M714L probably benign Het
Zbtb18 T C 1: 177,275,329 (GRCm39) S221P probably benign Het
Zfp418 A G 7: 7,184,789 (GRCm39) T251A probably benign Het
Zmynd15 A G 11: 70,354,328 (GRCm39) Y267C probably damaging Het
Other mutations in Nos1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Nos1ap APN 1 170,342,175 (GRCm39) splice site probably benign
IGL01151:Nos1ap APN 1 170,416,845 (GRCm39) missense probably damaging 1.00
IGL02056:Nos1ap APN 1 170,146,192 (GRCm39) missense possibly damaging 0.93
IGL02712:Nos1ap APN 1 170,156,820 (GRCm39) missense possibly damaging 0.93
IGL03177:Nos1ap APN 1 170,218,299 (GRCm39) critical splice donor site probably null
R0096:Nos1ap UTSW 1 170,156,816 (GRCm39) missense probably damaging 1.00
R0096:Nos1ap UTSW 1 170,156,816 (GRCm39) missense probably damaging 1.00
R0621:Nos1ap UTSW 1 170,146,150 (GRCm39) missense probably damaging 0.99
R1332:Nos1ap UTSW 1 170,177,001 (GRCm39) missense probably damaging 1.00
R1523:Nos1ap UTSW 1 170,165,687 (GRCm39) missense probably benign 0.03
R1704:Nos1ap UTSW 1 170,165,781 (GRCm39) missense probably damaging 1.00
R1764:Nos1ap UTSW 1 170,146,447 (GRCm39) missense possibly damaging 0.83
R1905:Nos1ap UTSW 1 170,146,127 (GRCm39) missense possibly damaging 0.70
R2056:Nos1ap UTSW 1 170,155,215 (GRCm39) missense probably damaging 1.00
R2140:Nos1ap UTSW 1 170,156,735 (GRCm39) missense probably damaging 0.97
R2141:Nos1ap UTSW 1 170,156,735 (GRCm39) missense probably damaging 0.97
R3890:Nos1ap UTSW 1 170,177,025 (GRCm39) missense probably damaging 1.00
R3891:Nos1ap UTSW 1 170,177,025 (GRCm39) missense probably damaging 1.00
R3892:Nos1ap UTSW 1 170,177,025 (GRCm39) missense probably damaging 1.00
R4109:Nos1ap UTSW 1 170,146,237 (GRCm39) missense probably benign
R5305:Nos1ap UTSW 1 170,176,968 (GRCm39) missense probably damaging 1.00
R5306:Nos1ap UTSW 1 170,176,968 (GRCm39) missense probably damaging 1.00
R5412:Nos1ap UTSW 1 170,176,968 (GRCm39) missense probably damaging 1.00
R5414:Nos1ap UTSW 1 170,176,968 (GRCm39) missense probably damaging 1.00
R5444:Nos1ap UTSW 1 170,202,820 (GRCm39) missense probably damaging 1.00
R5636:Nos1ap UTSW 1 170,176,968 (GRCm39) missense probably damaging 1.00
R5637:Nos1ap UTSW 1 170,176,968 (GRCm39) missense probably damaging 1.00
R5638:Nos1ap UTSW 1 170,176,968 (GRCm39) missense probably damaging 1.00
R5753:Nos1ap UTSW 1 170,176,968 (GRCm39) missense probably damaging 1.00
R5754:Nos1ap UTSW 1 170,176,968 (GRCm39) missense probably damaging 1.00
R5787:Nos1ap UTSW 1 170,146,141 (GRCm39) missense probably benign 0.41
R7060:Nos1ap UTSW 1 170,165,694 (GRCm39) missense possibly damaging 0.87
R8161:Nos1ap UTSW 1 170,218,328 (GRCm39) missense probably damaging 1.00
R8397:Nos1ap UTSW 1 170,155,194 (GRCm39) missense unknown
RF009:Nos1ap UTSW 1 170,146,150 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGCTGCTATTCAGCCGCAACC -3'
(R):5'- ACAAGGAGCCTTTCTGATTCAGACG -3'

Sequencing Primer
(F):5'- ATTCAGCCGCAACCTTTGG -3'
(R):5'- CAGATGATAGcccttgggattg -3'
Posted On 2014-05-09