Incidental Mutation 'IGL03127:Nrsn1'
ID410193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrsn1
Ensembl Gene ENSMUSG00000048978
Gene Nameneurensin 1
SynonymsNeurensin-1, Neuro-p24, Vmp
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.589) question?
Stock #IGL03127
Quality Score
Status
Chromosome13
Chromosomal Location25252040-25270502 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25253717 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 76 (L76P)
Ref Sequence ENSEMBL: ENSMUSP00000128979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057866] [ENSMUST00000167305]
Predicted Effect probably damaging
Transcript: ENSMUST00000057866
AA Change: L76P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055048
Gene: ENSMUSG00000048978
AA Change: L76P

DomainStartEndE-ValueType
Pfam:Neurensin 24 154 2.3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156448
Predicted Effect probably damaging
Transcript: ENSMUST00000167305
AA Change: L76P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128979
Gene: ENSMUSG00000048978
AA Change: L76P

DomainStartEndE-ValueType
Pfam:Neurensin 24 159 3.6e-57 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Amdhd2 A G 17: 24,157,738 probably null Het
Apol7c A G 15: 77,525,906 M280T probably benign Het
Atl2 T C 17: 79,852,854 M264V probably damaging Het
Ccdc141 C T 2: 77,029,235 probably null Het
Dtx4 T C 19: 12,486,500 probably benign Het
Dyrk4 G A 6: 126,897,171 T152I possibly damaging Het
F5 T A 1: 164,193,538 I1194N probably benign Het
Gadl1 C T 9: 115,948,664 T126M probably damaging Het
Gcnt7 A T 2: 172,454,411 C110* probably null Het
H2-M9 C T 17: 36,640,822 V254M possibly damaging Het
Hadha A T 5: 30,134,186 Het
Kit T C 5: 75,641,188 M621T probably benign Het
Krt73 T C 15: 101,795,840 M422V probably benign Het
Neil2 T C 14: 63,191,808 H12R probably benign Het
Olfr1393 T G 11: 49,280,772 V208G possibly damaging Het
Olfr906 C A 9: 38,488,586 Q186K probably benign Het
Olfr924 T A 9: 38,848,209 Y32N probably damaging Het
Pot1a G A 6: 25,794,616 A23V probably benign Het
Ppp1r14d A G 2: 119,218,360 *147Q probably null Het
Ptger2 T C 14: 45,002,005 probably benign Het
Syne3 A T 12: 104,943,428 D716E probably benign Het
Tbc1d9 A G 8: 83,249,473 N554D probably damaging Het
Ushbp1 T A 8: 71,394,376 Q204L possibly damaging Het
Other mutations in Nrsn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02839:Nrsn1 APN 13 25253544 missense probably damaging 0.97
R0549:Nrsn1 UTSW 13 25262258 missense probably benign 0.01
R3076:Nrsn1 UTSW 13 25253559 missense probably benign 0.12
R4804:Nrsn1 UTSW 13 25253597 missense probably benign 0.40
R6020:Nrsn1 UTSW 13 25253372 missense probably damaging 1.00
Posted On2016-08-02