Incidental Mutation 'IGL03055:Nprl3'
| ID |
409218 |
| 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: 0.224)
|
| Stock # |
IGL03055 (G1)
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
32181963-32217707 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 32198230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020530]
[ENSMUST00000109389]
[ENSMUST00000124640]
[ENSMUST00000129010]
[ENSMUST00000137950]
[ENSMUST00000141859]
[ENSMUST00000136903]
[ENSMUST00000149526]
|
| AlphaFold |
Q8VIJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020530
|
| SMART Domains |
Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSPc
|
1 |
77 |
3e-27 |
BLAST |
|
Pfam:NPR3
|
104 |
418 |
1.8e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109389
|
| SMART Domains |
Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
| 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 benign
Transcript: ENSMUST00000129010
|
| SMART Domains |
Protein: ENSMUSP00000123219
Gene: ENSMUSG00000020289
| 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 |
noncoding transcript
Transcript: ENSMUST00000146890
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149526
|
| SMART Domains |
Protein: ENSMUSP00000122231
Gene: ENSMUSG00000020289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPR3
|
8 |
72 |
2.7e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900041M22Rik |
T |
A |
11: 117,503,072 (GRCm39) |
|
noncoding transcript |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A430005L14Rik |
T |
A |
4: 154,045,092 (GRCm39) |
S40R |
probably benign |
Het |
| Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,345,882 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,837,516 (GRCm39) |
M406K |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,817,054 (GRCm39) |
D102E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Clec16a |
T |
A |
16: 10,559,645 (GRCm39) |
S973T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,145,515 (GRCm39) |
Y1471H |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,594,697 (GRCm39) |
Y3489C |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,191,211 (GRCm39) |
E464G |
probably damaging |
Het |
| Enpp2 |
C |
A |
15: 54,729,481 (GRCm39) |
|
probably null |
Het |
| Erich2 |
G |
T |
2: 70,339,529 (GRCm39) |
C28F |
possibly damaging |
Het |
| Fam135b |
A |
T |
15: 71,493,883 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Gfral |
T |
A |
9: 76,115,831 (GRCm39) |
T48S |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,557,836 (GRCm39) |
E293G |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,288,792 (GRCm39) |
N3691K |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nefm |
T |
C |
14: 68,360,358 (GRCm39) |
T371A |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,778,308 (GRCm39) |
C3F |
probably benign |
Het |
| Nol4l |
G |
C |
2: 153,278,190 (GRCm39) |
|
silent |
Het |
| Or52p1 |
A |
T |
7: 104,267,413 (GRCm39) |
I176F |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,523,069 (GRCm39) |
|
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,071,879 (GRCm39) |
K128R |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,375,533 (GRCm39) |
L1329P |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,647,370 (GRCm39) |
|
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,172,732 (GRCm39) |
I46V |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,103,187 (GRCm39) |
T481I |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,104,971 (GRCm39) |
L524P |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,902 (GRCm39) |
|
silent |
Het |
| Ssh2 |
C |
T |
11: 77,299,021 (GRCm39) |
Q123* |
probably null |
Het |
| St18 |
G |
T |
1: 6,872,959 (GRCm39) |
L231F |
probably damaging |
Het |
| Stk11 |
A |
C |
10: 79,963,920 (GRCm39) |
D96A |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,615 (GRCm39) |
T1918A |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
C |
A |
5: 65,083,939 (GRCm39) |
V213F |
probably benign |
Het |
| Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
G |
A |
1: 74,822,013 (GRCm39) |
R198H |
probably damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,019 (GRCm39) |
V98E |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,515 (GRCm39) |
T248A |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,293,251 (GRCm39) |
|
probably null |
Het |
| Zfp697 |
T |
G |
3: 98,332,810 (GRCm39) |
C79G |
possibly damaging |
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 |
|
IGL03366:Nprl3
|
APN |
11 |
32,200,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation