Incidental Mutation 'IGL01731:Nepn'
ID 105509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nepn
Ensembl Gene ENSMUSG00000038624
Gene Name nephrocan
Synonyms periolin, Npn, 5730521E12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01731
Quality Score
Status
Chromosome 10
Chromosomal Location 52265068-52280721 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 52276660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 132 (R132L)
Ref Sequence ENSEMBL: ENSMUSP00000070130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067085] [ENSMUST00000219730]
AlphaFold Q9CQ76
Predicted Effect probably benign
Transcript: ENSMUST00000067085
AA Change: R132L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: R132L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 20 51 1.11e1 SMART
LRR 94 117 7.79e0 SMART
LRR 139 162 2.67e-1 SMART
LRR 163 183 3.27e2 SMART
LRR 185 208 5.72e-1 SMART
LRR 209 232 5.88e0 SMART
LRR 254 275 2.47e1 SMART
LRR_TYP 276 299 4.4e-2 SMART
LRR 321 344 2.84e1 SMART
low complexity region 346 360 N/A INTRINSIC
LRR_TYP 390 413 6.23e-2 SMART
Blast:LRRCT 425 474 3e-28 BLAST
low complexity region 480 497 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160539
AA Change: R71L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124257
Gene: ENSMUSG00000038624
AA Change: R71L

DomainStartEndE-ValueType
LRR 33 56 7.79e0 SMART
LRR 78 101 2.67e-1 SMART
LRR 102 122 3.27e2 SMART
LRR 124 147 5.72e-1 SMART
LRR 148 171 5.88e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000219730
AA Change: R71L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430093F15Rik T A 19: 10,762,711 (GRCm39) probably benign Het
Abca13 T C 11: 9,199,749 (GRCm39) probably benign Het
Abcc6 G A 7: 45,652,034 (GRCm39) P611L possibly damaging Het
Acsl6 A G 11: 54,241,385 (GRCm39) E547G probably benign Het
Aldh1b1 T C 4: 45,803,472 (GRCm39) F337L possibly damaging Het
Alg1 C T 16: 5,062,383 (GRCm39) R422C probably benign Het
Ankrd23 A G 1: 36,573,147 (GRCm39) L75S probably damaging Het
Arid5b T C 10: 67,933,439 (GRCm39) H578R probably damaging Het
Atp10a G T 7: 58,447,310 (GRCm39) W684L probably benign Het
Bzw2 T C 12: 36,157,647 (GRCm39) probably null Het
C2cd2 A T 16: 97,671,372 (GRCm39) I509K probably damaging Het
Card11 T C 5: 140,868,057 (GRCm39) T864A possibly damaging Het
Ces1f A G 8: 93,993,948 (GRCm39) S278P possibly damaging Het
Chd8 T C 14: 52,450,111 (GRCm39) I208V probably benign Het
Cstf2t T C 19: 31,061,738 (GRCm39) S425P probably benign Het
Cxcl1 A G 5: 91,039,436 (GRCm39) T60A probably benign Het
Diaph1 G T 18: 37,986,762 (GRCm39) probably benign Het
Dnai4 T C 4: 102,919,632 (GRCm39) I139V probably benign Het
Exoc3l T G 8: 106,019,587 (GRCm39) K394T probably benign Het
Fabp4 T C 3: 10,270,293 (GRCm39) probably benign Het
Fam234b T A 6: 135,188,903 (GRCm39) F169L possibly damaging Het
Hectd1 C A 12: 51,849,593 (GRCm39) D204Y possibly damaging Het
Hephl1 A T 9: 14,981,066 (GRCm39) Y789N probably damaging Het
Igfbp6 C A 15: 102,053,252 (GRCm39) N90K probably benign Het
Khdrbs1 A T 4: 129,619,462 (GRCm39) D226E probably benign Het
Lipo4 T A 19: 33,490,013 (GRCm39) Q163L probably damaging Het
Med13l T C 5: 118,880,472 (GRCm39) I1188T probably benign Het
Mki67 T C 7: 135,298,278 (GRCm39) E2252G probably benign Het
Nlrp9b T A 7: 19,757,342 (GRCm39) L193* probably null Het
Ntn1 A G 11: 68,276,244 (GRCm39) S235P probably damaging Het
Nup210l G T 3: 90,061,873 (GRCm39) R684L probably damaging Het
Obi1 T C 14: 104,716,738 (GRCm39) D545G probably damaging Het
Obp2b A G 2: 25,629,293 (GRCm39) S154G possibly damaging Het
Or10ag59 A G 2: 87,406,282 (GRCm39) T285A probably benign Het
Or4f57 A G 2: 111,790,980 (GRCm39) V146A probably benign Het
Or51b6b T A 7: 103,310,053 (GRCm39) T135S probably benign Het
Or5p1 A T 7: 107,916,682 (GRCm39) I194F probably benign Het
Polr3b A T 10: 84,467,704 (GRCm39) R95* probably null Het
Prelid2 C T 18: 42,070,714 (GRCm39) V40M probably benign Het
Ptprb T G 10: 116,208,781 (GRCm39) L2205R probably damaging Het
R3hcc1l T C 19: 42,551,240 (GRCm39) V79A probably benign Het
Stam2 A G 2: 52,598,162 (GRCm39) I259T probably damaging Het
Tdpoz4 A T 3: 93,704,189 (GRCm39) N162I possibly damaging Het
Tuba3a A G 6: 125,259,721 (GRCm39) V75A possibly damaging Het
Vmn2r73 A T 7: 85,506,757 (GRCm39) *852K probably null Het
Zfp7 C T 15: 76,772,505 (GRCm39) Q69* probably null Het
Zfp865 G T 7: 5,032,875 (GRCm39) A287S probably benign Het
Zmpste24 T A 4: 120,955,081 (GRCm39) Q39L probably benign Het
Other mutations in Nepn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Nepn APN 10 52,267,911 (GRCm39) missense probably damaging 1.00
R0099:Nepn UTSW 10 52,277,181 (GRCm39) missense probably damaging 0.96
R0123:Nepn UTSW 10 52,276,533 (GRCm39) missense probably damaging 0.96
R0134:Nepn UTSW 10 52,276,533 (GRCm39) missense probably damaging 0.96
R0225:Nepn UTSW 10 52,276,533 (GRCm39) missense probably damaging 0.96
R0613:Nepn UTSW 10 52,277,353 (GRCm39) missense probably damaging 1.00
R1482:Nepn UTSW 10 52,276,512 (GRCm39) missense probably damaging 1.00
R2969:Nepn UTSW 10 52,276,983 (GRCm39) nonsense probably null
R3731:Nepn UTSW 10 52,280,110 (GRCm39) missense probably damaging 1.00
R3790:Nepn UTSW 10 52,276,626 (GRCm39) missense probably damaging 1.00
R3958:Nepn UTSW 10 52,276,804 (GRCm39) missense probably benign
R4423:Nepn UTSW 10 52,267,911 (GRCm39) missense probably damaging 1.00
R5002:Nepn UTSW 10 52,267,850 (GRCm39) missense probably benign
R5294:Nepn UTSW 10 52,276,896 (GRCm39) missense probably benign 0.02
R5580:Nepn UTSW 10 52,280,398 (GRCm39) missense probably damaging 0.98
R5607:Nepn UTSW 10 52,277,233 (GRCm39) missense probably benign 0.10
R5986:Nepn UTSW 10 52,280,168 (GRCm39) missense probably damaging 1.00
R7135:Nepn UTSW 10 52,267,815 (GRCm39) missense probably damaging 1.00
R7256:Nepn UTSW 10 52,277,089 (GRCm39) missense probably benign 0.01
R7713:Nepn UTSW 10 52,277,274 (GRCm39) missense probably benign 0.16
R8213:Nepn UTSW 10 52,267,855 (GRCm39) missense probably benign 0.00
R8432:Nepn UTSW 10 52,267,880 (GRCm39) missense probably benign 0.15
R8463:Nepn UTSW 10 52,276,896 (GRCm39) missense probably benign 0.23
R9315:Nepn UTSW 10 52,267,869 (GRCm39) missense probably benign 0.02
R9684:Nepn UTSW 10 52,276,801 (GRCm39) missense probably benign 0.34
Posted On 2014-01-21