Incidental Mutation 'IGL03366:Nprl3'
ID |
420104 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nprl3
|
Ensembl Gene |
ENSMUSG00000020289 |
Gene Name |
nitrogen permease regulator-like 3 |
Synonyms |
Mare, HS-26, Prox1, Phg, -14 gene, HS-40, m(alpha)RE |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
IGL03366
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
32181963-32217707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32200256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 20
(I20T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122231
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020530]
[ENSMUST00000109389]
[ENSMUST00000124640]
[ENSMUST00000129010]
[ENSMUST00000149526]
[ENSMUST00000136903]
[ENSMUST00000137950]
[ENSMUST00000141859]
|
AlphaFold |
Q8VIJ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020530
AA Change: I139T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020530 Gene: ENSMUSG00000020289 AA Change: I139T
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
77 |
3e-27 |
BLAST |
Pfam:NPR3
|
104 |
418 |
1.8e-44 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109389
AA Change: I114T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105016 Gene: ENSMUSG00000020289 AA Change: I114T
Domain | Start | End | E-Value | Type |
Pfam:NPR3
|
63 |
108 |
8.3e-15 |
PFAM |
Pfam:NPR3
|
104 |
395 |
3.1e-80 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109390
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123411
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124640
|
SMART Domains |
Protein: ENSMUSP00000122085 Gene: ENSMUSG00000020289
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
68 |
2e-30 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127657
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000129010
AA Change: I152T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123219 Gene: ENSMUSG00000020289 AA Change: I152T
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
59 |
3e-29 |
BLAST |
Pfam:NPR3
|
76 |
131 |
3e-16 |
PFAM |
Pfam:NPR3
|
114 |
182 |
3.7e-16 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149526
AA Change: I20T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122231 Gene: ENSMUSG00000020289 AA Change: I20T
Domain | Start | End | E-Value | Type |
Pfam:NPR3
|
8 |
72 |
2.7e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137950
|
SMART Domains |
Protein: ENSMUSP00000115594 Gene: ENSMUSG00000020289
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
68 |
2e-30 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141859
|
SMART Domains |
Protein: ENSMUSP00000120341 Gene: ENSMUSG00000020289
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
59 |
2e-30 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of the encoded protein is not known. [provided by RefSeq, Aug 2011] PHENOTYPE: This gene is deleted in the Hbath-J mutation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2a2 |
T |
A |
7: 141,209,186 (GRCm39) |
S793T |
probably benign |
Het |
Btnl6 |
T |
C |
17: 34,727,153 (GRCm39) |
D459G |
probably damaging |
Het |
Cacna1g |
C |
A |
11: 94,347,977 (GRCm39) |
D704Y |
probably damaging |
Het |
Cby2 |
A |
G |
14: 75,820,829 (GRCm39) |
S299P |
probably benign |
Het |
Cry2 |
A |
G |
2: 92,244,060 (GRCm39) |
I371T |
probably damaging |
Het |
Dock3 |
A |
T |
9: 106,882,632 (GRCm39) |
F384I |
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,187,301 (GRCm39) |
|
probably null |
Het |
Hecw1 |
G |
T |
13: 14,552,382 (GRCm39) |
D72E |
probably damaging |
Het |
Htt |
T |
A |
5: 35,064,924 (GRCm39) |
W3046R |
probably damaging |
Het |
Hydin |
A |
T |
8: 110,993,995 (GRCm39) |
N10Y |
unknown |
Het |
Ighv8-8 |
T |
A |
12: 115,257,760 (GRCm39) |
T94S |
probably benign |
Het |
Igkv4-58 |
A |
G |
6: 69,477,538 (GRCm39) |
S20P |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,486,919 (GRCm39) |
|
probably benign |
Het |
Kif13a |
A |
T |
13: 46,918,099 (GRCm39) |
S403T |
probably benign |
Het |
Klhl40 |
T |
C |
9: 121,612,446 (GRCm39) |
L616P |
probably damaging |
Het |
Krt7 |
T |
C |
15: 101,325,491 (GRCm39) |
L440P |
possibly damaging |
Het |
Lpin1 |
A |
G |
12: 16,594,678 (GRCm39) |
L755P |
probably damaging |
Het |
Magee2 |
C |
A |
X: 103,899,134 (GRCm39) |
E506* |
probably null |
Het |
Mast3 |
G |
A |
8: 71,234,207 (GRCm39) |
R143* |
probably null |
Het |
Med12 |
T |
A |
X: 100,321,695 (GRCm39) |
H459Q |
probably benign |
Het |
Mmp3 |
T |
C |
9: 7,450,149 (GRCm39) |
S294P |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,234,349 (GRCm39) |
Y714C |
probably damaging |
Het |
Myh2 |
T |
C |
11: 67,074,349 (GRCm39) |
L662S |
probably damaging |
Het |
Notch4 |
G |
T |
17: 34,791,542 (GRCm39) |
C567F |
probably damaging |
Het |
Or10ag2 |
A |
T |
2: 87,248,587 (GRCm39) |
D65V |
possibly damaging |
Het |
Pcdhb19 |
A |
G |
18: 37,631,665 (GRCm39) |
T487A |
possibly damaging |
Het |
Phlpp2 |
A |
G |
8: 110,667,467 (GRCm39) |
E1332G |
probably benign |
Het |
Pick1 |
T |
C |
15: 79,125,481 (GRCm39) |
S113P |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,507,178 (GRCm39) |
E1023G |
probably damaging |
Het |
Rspry1 |
A |
C |
8: 95,376,962 (GRCm39) |
I382L |
probably benign |
Het |
Sf3b3 |
A |
C |
8: 111,566,586 (GRCm39) |
V248G |
probably damaging |
Het |
Smg5 |
T |
A |
3: 88,253,759 (GRCm39) |
Y126* |
probably null |
Het |
Spin1 |
T |
C |
13: 51,281,973 (GRCm39) |
V22A |
probably benign |
Het |
Stab1 |
C |
T |
14: 30,872,220 (GRCm39) |
R1189Q |
possibly damaging |
Het |
Sytl5 |
A |
G |
X: 9,829,939 (GRCm39) |
D538G |
probably damaging |
Het |
Taar7e |
T |
A |
10: 23,913,813 (GRCm39) |
M101K |
probably damaging |
Het |
Taf4 |
A |
G |
2: 179,576,847 (GRCm39) |
V578A |
probably damaging |
Het |
Tmem266 |
G |
T |
9: 55,344,517 (GRCm39) |
C383F |
probably benign |
Het |
Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
Vmn2r104 |
T |
C |
17: 20,249,866 (GRCm39) |
T802A |
probably damaging |
Het |
Vmn2r32 |
A |
C |
7: 7,467,029 (GRCm39) |
I833S |
probably damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,262,328 (GRCm39) |
D137G |
probably benign |
Het |
Vps13c |
C |
T |
9: 67,853,308 (GRCm39) |
S2467L |
probably benign |
Het |
|
Other mutations in Nprl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02410:Nprl3
|
APN |
11 |
32,217,539 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
IGL03055:Nprl3
|
APN |
11 |
32,198,230 (GRCm39) |
intron |
probably benign |
|
R0114:Nprl3
|
UTSW |
11 |
32,189,784 (GRCm39) |
unclassified |
probably benign |
|
R0555:Nprl3
|
UTSW |
11 |
32,183,118 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0620:Nprl3
|
UTSW |
11 |
32,184,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R2008:Nprl3
|
UTSW |
11 |
32,182,973 (GRCm39) |
missense |
probably damaging |
0.97 |
R2172:Nprl3
|
UTSW |
11 |
32,184,894 (GRCm39) |
missense |
probably benign |
0.00 |
R2884:Nprl3
|
UTSW |
11 |
32,198,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R3713:Nprl3
|
UTSW |
11 |
32,205,464 (GRCm39) |
missense |
probably damaging |
0.98 |
R3836:Nprl3
|
UTSW |
11 |
32,183,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4354:Nprl3
|
UTSW |
11 |
32,184,906 (GRCm39) |
missense |
probably benign |
0.00 |
R6052:Nprl3
|
UTSW |
11 |
32,205,453 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6056:Nprl3
|
UTSW |
11 |
32,217,432 (GRCm39) |
missense |
probably damaging |
0.98 |
R6307:Nprl3
|
UTSW |
11 |
32,189,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R6553:Nprl3
|
UTSW |
11 |
32,184,812 (GRCm39) |
missense |
probably benign |
|
R6585:Nprl3
|
UTSW |
11 |
32,184,812 (GRCm39) |
missense |
probably benign |
|
R6774:Nprl3
|
UTSW |
11 |
32,187,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R6806:Nprl3
|
UTSW |
11 |
32,217,509 (GRCm39) |
missense |
probably damaging |
0.99 |
R7746:Nprl3
|
UTSW |
11 |
32,198,150 (GRCm39) |
nonsense |
probably null |
|
R7980:Nprl3
|
UTSW |
11 |
32,187,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8483:Nprl3
|
UTSW |
11 |
32,213,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R8712:Nprl3
|
UTSW |
11 |
32,187,334 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8827:Nprl3
|
UTSW |
11 |
32,184,742 (GRCm39) |
missense |
probably benign |
0.00 |
R9264:Nprl3
|
UTSW |
11 |
32,183,948 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |