Incidental Mutation 'IGL00466:Nln'
ID 5915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nln
Ensembl Gene ENSMUSG00000021710
Gene Name neurolysin (metallopeptidase M3 family)
Synonyms 4930472G13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL00466
Quality Score
Status
Chromosome 13
Chromosomal Location 104159565-104246122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 104172153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 641 (V641G)
Ref Sequence ENSEMBL: ENSMUSP00000153227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109315] [ENSMUST00000224945]
AlphaFold Q91YP2
Predicted Effect probably damaging
Transcript: ENSMUST00000109315
AA Change: V641G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104938
Gene: ENSMUSG00000021710
AA Change: V641G

DomainStartEndE-ValueType
Pfam:Peptidase_M3 251 701 1.8e-158 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224475
Predicted Effect probably damaging
Transcript: ENSMUST00000224945
AA Change: V641G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000225324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225704
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit increased glucose tolerance, insulin sensitivity, and gluconeogensis. Mice also show decreased body weight and run less in a low intensity regime to exhaustion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,056,618 (GRCm39) A359T probably damaging Het
Atm A G 9: 53,410,412 (GRCm39) probably benign Het
Ccdc59 G A 10: 105,683,035 (GRCm39) S240N probably benign Het
Ccdc59 A T 10: 105,683,034 (GRCm39) S240C probably benign Het
Chrm1 A T 19: 8,655,438 (GRCm39) I48F probably benign Het
Col28a1 T C 6: 8,022,081 (GRCm39) probably benign Het
Gys2 G A 6: 142,409,016 (GRCm39) Q80* probably null Het
Hck A T 2: 152,978,653 (GRCm39) T289S probably benign Het
Il1rapl2 A G X: 137,735,292 (GRCm39) D403G probably damaging Het
Kif16b A T 2: 142,689,955 (GRCm39) L319* probably null Het
Kit T C 5: 75,771,479 (GRCm39) I212T probably benign Het
Mroh5 G A 15: 73,664,638 (GRCm39) probably benign Het
Muc6 T C 7: 141,232,169 (GRCm39) Y986C possibly damaging Het
Nyap2 C A 1: 81,169,695 (GRCm39) L151I probably damaging Het
Plce1 A G 19: 38,709,473 (GRCm39) Y1109C probably damaging Het
Slc10a4 T C 5: 73,169,263 (GRCm39) I296T probably damaging Het
Slc35c1 T A 2: 92,284,703 (GRCm39) I304F probably benign Het
Stxbp2 C T 8: 3,684,065 (GRCm39) A124V probably benign Het
Stxbp5 A G 10: 9,675,694 (GRCm39) Y642H probably damaging Het
Tecta T C 9: 42,243,844 (GRCm39) T2003A probably damaging Het
Zfp804a C A 2: 81,884,219 (GRCm39) L29I probably benign Het
Other mutations in Nln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Nln APN 13 104,198,249 (GRCm39) splice site probably null
R0025:Nln UTSW 13 104,173,399 (GRCm39) missense probably damaging 0.98
R0294:Nln UTSW 13 104,189,087 (GRCm39) missense probably damaging 1.00
R1396:Nln UTSW 13 104,198,261 (GRCm39) missense probably benign 0.01
R1657:Nln UTSW 13 104,173,455 (GRCm39) missense possibly damaging 0.94
R2087:Nln UTSW 13 104,173,877 (GRCm39) missense probably damaging 0.96
R2847:Nln UTSW 13 104,161,533 (GRCm39) missense probably damaging 1.00
R3034:Nln UTSW 13 104,173,947 (GRCm39) missense possibly damaging 0.91
R5576:Nln UTSW 13 104,195,338 (GRCm39) missense probably damaging 1.00
R5585:Nln UTSW 13 104,161,569 (GRCm39) missense possibly damaging 0.73
R5882:Nln UTSW 13 104,196,006 (GRCm39) missense probably benign 0.08
R6763:Nln UTSW 13 104,172,163 (GRCm39) missense probably damaging 1.00
R7209:Nln UTSW 13 104,209,406 (GRCm39) nonsense probably null
R7347:Nln UTSW 13 104,187,355 (GRCm39) missense probably damaging 0.96
R7417:Nln UTSW 13 104,173,478 (GRCm39) missense probably damaging 1.00
R7467:Nln UTSW 13 104,161,530 (GRCm39) missense possibly damaging 0.75
R7491:Nln UTSW 13 104,205,831 (GRCm39) missense probably damaging 1.00
R7553:Nln UTSW 13 104,186,924 (GRCm39) frame shift probably null
R7842:Nln UTSW 13 104,189,137 (GRCm39) missense probably benign
R8842:Nln UTSW 13 104,209,486 (GRCm39) missense probably benign 0.24
R9295:Nln UTSW 13 104,186,924 (GRCm39) frame shift probably null
R9512:Nln UTSW 13 104,198,274 (GRCm39) missense possibly damaging 0.89
R9544:Nln UTSW 13 104,198,356 (GRCm39) missense probably benign 0.31
R9606:Nln UTSW 13 104,186,924 (GRCm39) frame shift probably null
X0020:Nln UTSW 13 104,198,318 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20