Incidental Mutation 'IGL01774:Nrarp'
ID 154049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrarp
Ensembl Gene ENSMUSG00000078202
Gene Name Notch-regulated ankyrin repeat protein
Synonyms 2700054M22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # IGL01774
Quality Score
Status
Chromosome 2
Chromosomal Location 25070770-25073351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25071298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
Ref Sequence ENSEMBL: ENSMUSP00000100615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104999]
AlphaFold Q91ZA8
Predicted Effect possibly damaging
Transcript: ENSMUST00000104999
AA Change: V59A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100615
Gene: ENSMUSG00000078202
AA Change: V59A

DomainStartEndE-ValueType
ANK 50 79 3.01e-4 SMART
ANK 83 112 5.37e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195193
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit delayed retinal vascularization due to increased vascular regression. Mice homozygous for a different knock-out allele exhibit vertebral and rib fusions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,077,058 (GRCm39) D708G probably damaging Het
Abca16 T C 7: 120,021,024 (GRCm39) probably benign Het
Abcc5 T C 16: 20,197,207 (GRCm39) D674G probably damaging Het
Abr A G 11: 76,355,125 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,619,363 (GRCm39) I4T possibly damaging Het
Btla A G 16: 45,070,911 (GRCm39) N290S possibly damaging Het
Catip C A 1: 74,407,642 (GRCm39) R325S probably damaging Het
Cep120 A G 18: 53,839,902 (GRCm39) L786P possibly damaging Het
Cnot8 A G 11: 58,006,133 (GRCm39) I221V probably benign Het
Eloc A T 1: 16,716,013 (GRCm39) D37E probably benign Het
Fabp12 A C 3: 10,312,754 (GRCm39) N89K probably benign Het
Ficd G T 5: 113,877,073 (GRCm39) R416L probably damaging Het
Frmd3 T C 4: 74,106,075 (GRCm39) Y574H probably damaging Het
Frmd4a T C 2: 4,540,047 (GRCm39) probably benign Het
Gatc G A 5: 115,479,076 (GRCm39) Q45* probably null Het
Gm5414 T C 15: 101,535,410 (GRCm39) D225G probably benign Het
Itpkc G T 7: 26,911,795 (GRCm39) A592E probably benign Het
Kl G T 5: 150,911,948 (GRCm39) V566L probably benign Het
Lpin1 T A 12: 16,608,477 (GRCm39) D545V probably damaging Het
Mtcl1 T C 17: 66,692,880 (GRCm39) Y483C probably damaging Het
Neb C T 2: 52,112,982 (GRCm39) W67* probably null Het
Nuf2 G A 1: 169,333,641 (GRCm39) T345M probably benign Het
Or52n20 T C 7: 104,320,149 (GRCm39) I80T probably benign Het
Pacs2 T A 12: 113,020,462 (GRCm39) H278Q probably benign Het
Pot1a T C 6: 25,753,276 (GRCm39) K420R probably benign Het
Rag2 A G 2: 101,460,392 (GRCm39) Y234C probably damaging Het
Ralgds C T 2: 28,440,554 (GRCm39) Q88* probably null Het
Rictor T C 15: 6,799,258 (GRCm39) S365P probably damaging Het
Slco1a1 G A 6: 141,871,339 (GRCm39) Q276* probably null Het
Tas2r134 C T 2: 51,518,160 (GRCm39) T213I probably benign Het
Tecpr1 A G 5: 144,148,358 (GRCm39) I349T probably damaging Het
Tnxb T C 17: 34,907,813 (GRCm39) S1286P probably damaging Het
Trafd1 A G 5: 121,513,113 (GRCm39) V375A possibly damaging Het
Vmn2r110 T A 17: 20,803,889 (GRCm39) I229L probably benign Het
Vnn1 T C 10: 23,776,608 (GRCm39) Y320H probably benign Het
Zfp990 T C 4: 145,263,518 (GRCm39) V172A probably benign Het
Other mutations in Nrarp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2273:Nrarp UTSW 2 25,071,421 (GRCm39) missense possibly damaging 0.92
R2275:Nrarp UTSW 2 25,071,421 (GRCm39) missense possibly damaging 0.92
R6816:Nrarp UTSW 2 25,071,319 (GRCm39) missense probably damaging 0.99
R7818:Nrarp UTSW 2 25,071,250 (GRCm39) missense possibly damaging 0.95
Posted On 2014-02-04