Incidental Mutation 'IGL01774:Nrarp'
ID154049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrarp
Ensembl Gene ENSMUSG00000078202
Gene NameNotch-regulated ankyrin repeat protein
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.837) question?
Stock #IGL01774
Quality Score
Status
Chromosome2
Chromosomal Location25180758-25183339 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25181286 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
Ref Sequence ENSEMBL: ENSMUSP00000100615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104999]
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: 120,477,835 D708G probably damaging Het
Abca16 T C 7: 120,421,801 probably benign Het
Abcc5 T C 16: 20,378,457 D674G probably damaging Het
Abr A G 11: 76,464,299 probably benign Het
Arfgef3 A G 10: 18,743,615 I4T possibly damaging Het
Btla A G 16: 45,250,548 N290S possibly damaging Het
Catip C A 1: 74,368,483 R325S probably damaging Het
Cep120 A G 18: 53,706,830 L786P possibly damaging Het
Cnot8 A G 11: 58,115,307 I221V probably benign Het
Eloc A T 1: 16,645,789 D37E probably benign Het
Fabp12 A C 3: 10,247,694 N89K probably benign Het
Ficd G T 5: 113,739,012 R416L probably damaging Het
Frmd3 T C 4: 74,187,838 Y574H probably damaging Het
Frmd4a T C 2: 4,535,236 probably benign Het
Gatc G A 5: 115,341,017 Q45* probably null Het
Gm5414 T C 15: 101,626,975 D225G probably benign Het
Itpkc G T 7: 27,212,370 A592E probably benign Het
Kl G T 5: 150,988,483 V566L probably benign Het
Lpin1 T A 12: 16,558,476 D545V probably damaging Het
Mtcl1 T C 17: 66,385,885 Y483C probably damaging Het
Neb C T 2: 52,222,970 W67* probably null Het
Nuf2 G A 1: 169,506,072 T345M probably benign Het
Olfr659 T C 7: 104,670,942 I80T probably benign Het
Pacs2 T A 12: 113,056,842 H278Q probably benign Het
Pot1a T C 6: 25,753,277 K420R probably benign Het
Rag2 A G 2: 101,630,047 Y234C probably damaging Het
Ralgds C T 2: 28,550,542 Q88* probably null Het
Rictor T C 15: 6,769,777 S365P probably damaging Het
Slco1a1 G A 6: 141,925,613 Q276* probably null Het
Tas2r134 C T 2: 51,628,148 T213I probably benign Het
Tecpr1 A G 5: 144,211,540 I349T probably damaging Het
Tnxb T C 17: 34,688,839 S1286P probably damaging Het
Trafd1 A G 5: 121,375,050 V375A possibly damaging Het
Vmn2r110 T A 17: 20,583,627 I229L probably benign Het
Vnn1 T C 10: 23,900,710 Y320H probably benign Het
Zfp990 T C 4: 145,536,948 V172A probably benign Het
Other mutations in Nrarp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2273:Nrarp UTSW 2 25181409 missense possibly damaging 0.92
R2275:Nrarp UTSW 2 25181409 missense possibly damaging 0.92
R6816:Nrarp UTSW 2 25181307 missense probably damaging 0.99
R7818:Nrarp UTSW 2 25181238 missense possibly damaging 0.95
Posted On2014-02-04