Incidental Mutation 'R1657:Nln'
ID 186485
Institutional Source Beutler Lab
Gene Symbol Nln
Ensembl Gene ENSMUSG00000021710
Gene Name neurolysin (metallopeptidase M3 family)
Synonyms 4930472G13Rik
MMRRC Submission 039693-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R1657 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 104159565-104246122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104173455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 584 (V584I)
Ref Sequence ENSEMBL: ENSMUSP00000153227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109315] [ENSMUST00000224945]
AlphaFold Q91YP2
Predicted Effect possibly damaging
Transcript: ENSMUST00000109315
AA Change: V584I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104938
Gene: ENSMUSG00000021710
AA Change: V584I

Pfam:Peptidase_M3 251 701 1.8e-158 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224475
Predicted Effect possibly damaging
Transcript: ENSMUST00000224945
AA Change: V584I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000225324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225704
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,154,910 (GRCm39) D988E probably benign Het
Als2 A G 1: 59,219,760 (GRCm39) V1185A probably damaging Het
Amdhd2 A G 17: 24,375,029 (GRCm39) V391A probably damaging Het
Armh4 G C 14: 50,011,017 (GRCm39) T230S probably damaging Het
Caprin1 A T 2: 103,599,851 (GRCm39) V608E probably damaging Het
Celsr3 T A 9: 108,720,151 (GRCm39) C2512* probably null Het
Cfl1 A T 19: 5,543,583 (GRCm39) R187W probably damaging Het
Cgnl1 C T 9: 71,633,226 (GRCm39) V42I probably damaging Het
Chd2 A G 7: 73,130,178 (GRCm39) Y826H probably damaging Het
Col9a2 C A 4: 120,898,171 (GRCm39) P28T unknown Het
Cyp3a44 G A 5: 145,716,553 (GRCm39) P346S probably damaging Het
Dact2 A G 17: 14,418,252 (GRCm39) V151A probably benign Het
Dhx29 T C 13: 113,089,377 (GRCm39) I716T probably damaging Het
Entrep1 C A 19: 23,952,999 (GRCm39) C437F probably damaging Het
Esam T C 9: 37,448,917 (GRCm39) S342P probably damaging Het
Fer1l4 A G 2: 155,877,518 (GRCm39) V1053A possibly damaging Het
Grk3 A G 5: 113,114,848 (GRCm39) F124S probably damaging Het
H2-DMa G A 17: 34,356,373 (GRCm39) probably null Het
Hsd3b5 T A 3: 98,527,036 (GRCm39) I137F possibly damaging Het
Itgav A T 2: 83,632,123 (GRCm39) I902F probably benign Het
Itsn1 G T 16: 91,706,111 (GRCm39) C179F probably damaging Het
Kcnh8 G A 17: 53,146,153 (GRCm39) R347H probably damaging Het
Kif9 T C 9: 110,319,034 (GRCm39) M166T possibly damaging Het
Kmt5c C T 7: 4,749,453 (GRCm39) Q324* probably null Het
Lcn9 G A 2: 25,714,722 (GRCm39) E154K probably benign Het
Mfge8 A T 7: 78,791,521 (GRCm39) L227Q probably benign Het
Mroh2b A T 15: 4,960,525 (GRCm39) R753* probably null Het
Mtif2 G A 11: 29,490,721 (GRCm39) R475Q probably benign Het
Nr2e3 T C 9: 59,856,050 (GRCm39) E129G probably benign Het
Ocstamp T C 2: 165,239,436 (GRCm39) D250G probably damaging Het
Or1a1 A T 11: 74,086,722 (GRCm39) H131L probably damaging Het
Or52n4b T C 7: 108,144,584 (GRCm39) I284T possibly damaging Het
Or8k27 A C 2: 86,275,562 (GRCm39) L255V probably damaging Het
Pld1 A T 3: 28,125,336 (GRCm39) I417L probably benign Het
Polr1a A T 6: 71,918,519 (GRCm39) K692N probably damaging Het
Qsox2 A T 2: 26,110,759 (GRCm39) Y152* probably null Het
Rpap1 T C 2: 119,614,259 (GRCm39) D46G possibly damaging Het
Rpe65 A G 3: 159,320,085 (GRCm39) T246A probably damaging Het
Scn5a T C 9: 119,391,446 (GRCm39) D82G probably damaging Het
Sema3d A G 5: 12,634,941 (GRCm39) E669G possibly damaging Het
Serpinb6c T C 13: 34,064,209 (GRCm39) N282S probably benign Het
Snap47 A T 11: 59,319,596 (GRCm39) S181T probably benign Het
Snx9 A C 17: 5,968,711 (GRCm39) T336P possibly damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Terb1 A T 8: 105,215,123 (GRCm39) D284E possibly damaging Het
Tmem266 C T 9: 55,325,292 (GRCm39) A153V probably damaging Het
Trappc2b T C 11: 51,576,505 (GRCm39) Q131R probably benign Het
Ttn T C 2: 76,573,148 (GRCm39) E25915G possibly damaging Het
Tubal3 A G 13: 3,983,011 (GRCm39) T264A possibly damaging Het
Vldlr G A 19: 27,223,070 (GRCm39) R747Q probably benign Het
Zc3h8 G T 2: 128,771,877 (GRCm39) probably benign Het
Zfp184 C T 13: 22,143,443 (GRCm39) T383M probably damaging Het
Zfp455 T C 13: 67,346,703 (GRCm39) F38S possibly damaging Het
Zfp746 A G 6: 48,059,108 (GRCm39) V167A possibly damaging Het
Zfp985 T A 4: 147,668,567 (GRCm39) N478K probably benign Het
Other mutations in Nln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Nln APN 13 104,172,153 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09