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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |