Incidental Mutation 'R3034:Nln'
| ID |
264794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nln
|
| Ensembl Gene |
ENSMUSG00000021710 |
| Gene Name |
neurolysin (metallopeptidase M3 family) |
| Synonyms |
4930472G13Rik |
| MMRRC Submission |
040550-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3034 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
104159565-104246122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104173947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 525
(V525I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109315]
[ENSMUST00000224945]
|
| AlphaFold |
Q91YP2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109315
AA Change: V525I
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104938
Gene: ENSMUSG00000021710
AA Change: V525I
| 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 |
possibly damaging
Transcript: ENSMUST00000224945
AA Change: V525I
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225704
|
| Meta Mutation Damage Score |
0.7643 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
T |
C |
11: 70,207,079 (GRCm39) |
I576V |
probably benign |
Het |
| Apol7a |
T |
G |
15: 77,273,923 (GRCm39) |
I180L |
probably benign |
Het |
| Aptx |
T |
C |
4: 40,694,994 (GRCm39) |
N114S |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,113,720 (GRCm39) |
D1297E |
probably damaging |
Het |
| Cd40 |
T |
A |
2: 164,904,235 (GRCm39) |
S65R |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,244,789 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
G |
A |
16: 4,450,155 (GRCm39) |
R565W |
probably damaging |
Het |
| Cpt1a |
C |
T |
19: 3,428,390 (GRCm39) |
T588M |
probably damaging |
Het |
| Defb23 |
A |
G |
2: 152,301,189 (GRCm39) |
S128P |
possibly damaging |
Het |
| Dgki |
G |
A |
6: 37,064,605 (GRCm39) |
H250Y |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,725,807 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
T |
C |
4: 62,225,129 (GRCm39) |
|
probably null |
Het |
| Gpr137c |
C |
T |
14: 45,457,733 (GRCm39) |
S95L |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
| Krt1 |
C |
A |
15: 101,759,068 (GRCm39) |
R32L |
unknown |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mrps28 |
T |
A |
3: 8,988,675 (GRCm39) |
D61V |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,336,244 (GRCm39) |
K299E |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,812,406 (GRCm39) |
Y738H |
possibly damaging |
Het |
| Myo5c |
A |
G |
9: 75,193,859 (GRCm39) |
T1205A |
probably benign |
Het |
| Nfatc2 |
C |
T |
2: 168,376,940 (GRCm39) |
G317S |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,352,437 (GRCm39) |
E549G |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,957,446 (GRCm39) |
Y259N |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,909,121 (GRCm39) |
D275G |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,264,970 (GRCm39) |
D294E |
possibly damaging |
Het |
| Ovch2 |
A |
G |
7: 107,384,699 (GRCm39) |
S473P |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,359,275 (GRCm39) |
Y16F |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,247,553 (GRCm39) |
|
probably null |
Het |
| Pmvk |
T |
C |
3: 89,375,824 (GRCm39) |
V74A |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,390,881 (GRCm39) |
T202S |
unknown |
Het |
| Rheb |
C |
T |
5: 25,008,721 (GRCm39) |
E166K |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,822,332 (GRCm39) |
V39A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,513,152 (GRCm39) |
Y1168C |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,611 (GRCm39) |
I139T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,274 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,330,901 (GRCm39) |
S13T |
possibly damaging |
Het |
| Tmem62 |
C |
T |
2: 120,809,605 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,341,912 (GRCm39) |
D790G |
probably damaging |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,219 (GRCm39) |
K152R |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,343,364 (GRCm39) |
A581E |
probably damaging |
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 |
|
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
(F):5'- GAAGGAGCTGCCAGGAATTCTG -3'
(R):5'- CACACAGTAGACAACGTTCTGC -3'
Sequencing Primer
(F):5'- GCTGCCAGGAATTCTGCATTTAAC -3'
(R):5'- GTAGACAACGTTCTGCCAGTTAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation