Incidental Mutation 'R5882:Nln'
| ID |
454486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nln
|
| Ensembl Gene |
ENSMUSG00000021710 |
| Gene Name |
neurolysin (metallopeptidase M3 family) |
| Synonyms |
4930472G13Rik |
| MMRRC Submission |
043236-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5882 (G1)
|
| Quality Score |
180 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104159565-104246122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 104196006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 60
(D60E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109315]
[ENSMUST00000224945]
|
| AlphaFold |
Q91YP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109315
AA Change: D210E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000104938
Gene: ENSMUSG00000021710
AA Change: D210E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M3
|
251 |
701 |
1.8e-158 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224945
AA Change: D210E
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225324
AA Change: D60E
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.5%
- 20x: 86.5%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
T |
A |
15: 77,602,447 (GRCm39) |
H348Q |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,350,645 (GRCm39) |
E400V |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,839 (GRCm39) |
K176N |
probably benign |
Het |
| Dcaf4 |
T |
C |
12: 83,586,203 (GRCm39) |
V377A |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,851,675 (GRCm39) |
L71P |
probably damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,777,498 (GRCm39) |
R117S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,903,453 (GRCm39) |
V382A |
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,730,057 (GRCm39) |
R107* |
probably null |
Het |
| Kif16b |
C |
T |
2: 142,549,178 (GRCm39) |
|
probably null |
Het |
| Lrrc69 |
A |
G |
4: 14,708,690 (GRCm39) |
F218S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,760,422 (GRCm39) |
Y1158C |
probably damaging |
Het |
| Myom1 |
G |
C |
17: 71,417,717 (GRCm39) |
A1307P |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,548,568 (GRCm39) |
V1389I |
possibly damaging |
Het |
| Nit2 |
T |
C |
16: 56,979,829 (GRCm39) |
D132G |
probably benign |
Het |
| Oas1f |
G |
A |
5: 120,986,316 (GRCm39) |
E90K |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,893 (GRCm39) |
V82A |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,484 (GRCm39) |
V76E |
probably damaging |
Het |
| Or8b12 |
C |
T |
9: 37,657,928 (GRCm39) |
T166I |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,230 (GRCm39) |
Q727L |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 42,863,327 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
T |
19: 31,563,097 (GRCm39) |
N116K |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,366,581 (GRCm39) |
S593C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,494 (GRCm39) |
N85S |
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,596,965 (GRCm39) |
T93A |
probably benign |
Het |
| St7 |
T |
C |
6: 17,846,248 (GRCm39) |
L121P |
probably damaging |
Het |
| Stoml2 |
G |
C |
4: 43,031,003 (GRCm39) |
R57G |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,837,371 (GRCm39) |
R532C |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,254,142 (GRCm39) |
N660S |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,339,731 (GRCm39) |
H233R |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,269,777 (GRCm39) |
V304A |
possibly damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,368 (GRCm39) |
M275I |
probably damaging |
Het |
| Zfp882 |
A |
T |
8: 72,667,303 (GRCm39) |
|
probably null |
Het |
| Zim1 |
A |
T |
7: 6,685,737 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nln |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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
(F):5'- ACACCAGTGTACTTTACCAAGAAG -3'
(R):5'- CATGGATAACTGAAACATGCTGC -3'
Sequencing Primer
(F):5'- CCATATAGGTGATGGGAATCAAACCC -3'
(R):5'- GTCTTCCTTCTCTTCAGGAAAT -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation